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Sample records for arnold-chiari malformation

  1. Acute Porphyria in a Patient with Arnold Chiari Malformation

    OpenAIRE

    Shen, Jianbin; O’Keefe, Kevin; Webb, Lisa B.; DeGirolamo, Angela

    2015-01-01

    Patient: Female, 33 Final Diagnosis: Acute porphyria Symptoms: Abdominal pain • alternating bowel habits Medication: Metronidazole • bactrim • oxybutynin Clinical Procedure: EMG • porhyria workup Specialty: Neurology Objective: Rare disease Background: Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be mi...

  2. Unusual association of Arnold-Chiari malformation and vitamin B12 deficiency

    OpenAIRE

    Verma, Rajesh; Praharaj, Heramba Narayan

    2012-01-01

    Arnold-Chiari malformations are a group of congenital or acquired defects associated with the displacement of cerebellar tonsils into the spinal canal. First described by Chiari (1891), this has various grades of severity and involves various parts of neuraxis, for example, cerebellum and its outputs, neuro-otological system, lower cranial nerves, spinal sensory and motor pathways. The symptomatology of Arnold-Chiari malformations may mimic multiple sclerosis, primary headache syndromes, spin...

  3. Clinical and radiological findings in arnold chiari malformation

    International Nuclear Information System (INIS)

    Background: The Chiari Malformation I (CMI) is a disorder of uncertain origin that has been traditionally defined as downward herniation of the cerebellar tonsils through the foramen magnum. The anomaly is a leading cause of syringomyelia and occurs in association with osseous abnormalities at the cranio vertebral junction. In contrast to other Chiari malformations, CMI tends to present in the second or third decade of life and is sometimes referred to as the 'adult-type' Chiari malformation. The objective was to document clinical and radiological findings in Arnold Chiari Malformation-I. Method: This was a descriptive study carried out in Ayub Teaching Hospital Abbottabad at Neurosurgery Department during July 2008 - July 2010. We examined a prospective cohort of 60 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine. Results: There were 40 female and 20 male patients. The age of onset was 24.9 +- 15.8 years. Common associated radiological problems included syringomyelia (60%), scoliosis (25%), and basilar invagination (12%), increased cervical lordosis 5 (8.5%), and Klippel Feil syndrome 2 (3.3%). The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (70% patients), tonsillar herniation of at least 5 mm (100% patients), and varying degrees of post fossa anomalies. Linical manifestations were headaches, pseudotumor-like episodes, a Meniere's disease-like syndrome, lower cranial nerve signs, and spinal cord disturbances in the absence of syringomyelia. Conclusion: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterised by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible

  4. The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.

    Science.gov (United States)

    Mittler, Joel E.

    1986-01-01

    The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education…

  5. Surgical treatment of Arnold-Chiari malformation type I in an adult patient

    OpenAIRE

    Marković Marko; Berisavac Iva; Bojović Vladimir; Kostić Bojan; Đulejić Vuk

    2008-01-01

    Background. Herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal with obliteration of the cerebellomedullary cistern is the primary feature of Arnold-Chiari type I malformation (ACM I). It is considered to be congenital malformation, although there have been reported cases of an acquired form. Case report. We presented a female patient, 45-year old, with ACM I without syringomyelia as a rare and unusual clinical image, as well as the effect of decompr...

  6. Arnold-Chiari Malformation Type III With Meningoencephalocele: A Case Report

    OpenAIRE

    Jeong, Dae Ho; Kim, Chang Hwan.; Kim, Myeong Ok; Chung, Hyung; Kim, Tae Hyun; Jung, Han Young

    2014-01-01

    Arnold-Chiari malformation type III (CM III) is an extremely rare anomaly with poor prognosis. An encephalocele with brain anomalies as seen in CM II, and herniation of posterior fossa contents like the cerebellum are found in CM III. The female infant was a twin, born at 33 weeks, weighing 1.7 kg with a huge hydrocele on the craniocervical junction. After operations were performed, she was referred to the department of rehabilitation medicine for poor motor development, swallowing dysfunctio...

  7. Surgical treatment of Arnold-Chiari malformation type I in an adult patient

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    Marković Marko

    2008-01-01

    Full Text Available Background. Herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal with obliteration of the cerebellomedullary cistern is the primary feature of Arnold-Chiari type I malformation (ACM I. It is considered to be congenital malformation, although there have been reported cases of an acquired form. Case report. We presented a female patient, 45-year old, with ACM I without syringomyelia as a rare and unusual clinical image, as well as the effect of decompressive surgery in the treatment of this malformation. The patient was admitted to the Department of Neurosurgery with clinical signs of truncal ataxia worsening during the last six years. Moderate quadriparesis with predominant lower extremity involvement and the signs of the cranial nerves damages occured during the last seven months before admission, with progressive clinical course up to the date of admission. Neurosurgical treatment that included suboccipital medial craniectomy with resection of posterior arch C1 vertebrae and C2 laminectomy resulted in a significant clinical improvement and a much better quality of life. Conclusion. Posterior craniovertebral decompression with microsurgical reduction of the cerebellar tonsils and placement of an artificial dural graft is a treatment of choice in severe forms of ACM I without syringomyelia. .

  8. Arnold-Chiari畸形手术中眼内压的变化%Changes of intraocular pressure in surgical treatment of Arnold-Chiari malformation

    Institute of Scientific and Technical Information of China (English)

    董媛媛; 蒋忠; 周路阳; 马正良

    2011-01-01

    目的 观察Arnold-Chiari畸形手术中眼内压的变化.方法 选择20例择期行Arnold-Chiari畸形手术的患者,分别于全身麻醉后5 min(T0)、俯卧位后5 min(T1)、俯卧位后30 min(T2)、俯卧位后60 min(T3)、手术结束前俯卧位(T4)、恢复平卧位5 min(T)、平卧位后30 min(T6)测量眼内压,同时记录各时间点平均动脉压(MAP)、心率(HR)、呼气末二氧化碳分压(PETCO2)的变化.俯卧位时,患者头部均采用颅骨钉固定于头架上.结果 术中各时间点MAP、HR、PETCO2比较差异均无统计学意义(P>0.05);患者T1[(20.9±2.5)mm Hg(1mm Hg =0.133 kPa)]、T2[(17.7±1.7)mm Hg]、T3[(23.9±2.4)mm Hg]、T4[(26.3±1.0)mm Hg]眼内压较T0[(9.5±1.5)mm Hg]明显升高(P<0.05),T3较T2明显升高(P<0.05),T4较T3明显升高(P< 0.05);T5(18.6±1.8)mm Hg]较T4明显降低(P<0.05),但相对T0仍明显升高(P< 0.05);T6[(10.3±1.7)mm Hg]基本恢复到T0水平;颅骨钉的置入可能有一过性加剧眼内压升高的可能,T1眼内压较T2明显升高(P<0.05).结论 ArnoldChiari畸形手术中随着体位改变患者眼内压逐渐升高,颅骨钉的置入可使眼内压一过性升高.%Objective To observe the changes of intraocular pressure(IOP)in surgical treatment of Arnold-Chiari malformation.Methods The IOP of 20 patients who underwent surgical treatment of ArnoldChiari malformation were detected by Tono-Pen tonometer at 5 min utes after general anesthesia(T0),5 minutes after prone position(T1),30 minutes after prone position(T2),60 minutes after prone position(T3),prone position before the end of operation(T4),5 minutes after recovery prostration position(Ts)and 30 minutes after prostration position(T6),mean aortic pressure(MAP),heart rate(HR)and partial pressure of carbon dioxide in end tidal(PETCO2)were recorded at the same time.With the prone position,head was fixed bead-holder with skull pin.Results There was no statistical difference in MAP,HR,PEtCO2 at each time point(P> 0

  9. Difficult intubation in a parturient with syringomyelia and Arnold–Chiari malformation: Use of Airtraq™ laryngoscope

    OpenAIRE

    Bensghir Mustapha; Chkoura, K.; Elhassani, M.; R Ahtil; Azendour, H.; N Drissi Kamili

    2011-01-01

    Anesthetic technique in parturient with syringomyelia and Arnold-Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted. Different devices have been used to manage the difficult intubation in pregnant women. We report the use of Airtraq™ laryngoscope after failed standard laryngoscopy in a parturient with syringomyelia and Arnold-Chiari type I malformation.

  10. Selected aspects of social cognition in patient with total agenesis of the corpus callosum (ACC and Arnold-Chiari desease – case study

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    Daniluk, Beata

    2013-06-01

    Full Text Available Aim. The goal of the research was a characteristic of emotional-social competencies and communicative abilities in a 16-years old patient with ACC and Arnold-Chiari disease and higher than average intelligence. Method. RHLB-PL was applied. Results. Total score in RHLB-PL suggested language and communication impairment. The greatest problems were observed in the field of behavioral self-control and discourse abilities. The patient had difficulties in the topic of the discourse maintaining, resisting from production of unconnected topics and comments, interject inappropriate remarks. Problems in humor comprehension and the dissociation between relative high level of written metaphors analysis abilities and low level of Picture Metaphors perception and explanation were observed. Linguistic Prosody was average. Conclusion. Patient M.J. with agenesis of corpus callosum presented high number of deficits typical in right hemisphere damage patients. It is possible to explain that fact in the context of interhemispheric transfer disorders, specially when complex material was processed.

  11. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

    OpenAIRE

    Marzuillo, Pierluigi; Grandone, Anna; Coppola, Ruggero; Cozzolino, Domenico; Festa, Adalgisa; Messa, Federica; Luongo, Caterina; del Giudice, Emanuele Miraglia; Perrone, Laura

    2013-01-01

    Background Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%). Case presentation We descr...

  12. Dexmedetomidine for an awake fiber-optic intubation of a parturient with Klippel-Feil syndrome, Type I Arnold Chiari malformation and status post released tethered spinal cord presenting for repeat cesarean section

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    Tanmay H. Shah

    2011-08-01

    Full Text Available Patients with Klippel-Feil Syndrome (KFS have congenital fusion of their cervical vertebrae due to a failure in the normal segmentation of the cervical vertebrae during the early weeks of gestation and also have myriad of other associated anomalies. Because of limited neck mobility, airway management in these patients can be a challenge for the anesthesiologist. We describe a unique case in which a dexmedetomidine infusion was used as sedation for an awake fiber-optic intubation in a parturient with Klippel-Feil Syndrome, who presented for elective cesarean delivery. A 36-yearold female, G2P1A0 with KFS (fusion of cervical vertebrae who had prior cesarean section for breech presentation with difficult airway management was scheduled for repeat cesarean delivery. After obtaining an informed consent, patient was taken in the operating room and non-invasive monitors were applied. Dexmedetomidine infusion was started and after adequate sedation, an awake fiberoptic intubation was performed. General anesthetic was administered after intubation and dexmedetomidine infusion was continued on maintenance dose until extubation. Klippel-Feil Syndrome (KFS is a rare congenital disorder for which the true incidence is unknown, which makes it even rare to see a parturient with this disease. Patients with KFS usually have other congenital abnormalities as well, sometimes including the whole thoraco-lumbar spine (Type III precluding the use of neuraxial anesthesia for these patients. Obstetric patients with KFS can present unique challenges in administering anesthesia and analgesia, primarily as it relates to the airway and dexmedetomidine infusion has shown promising result to manage the airway through awake fiberoptic intubation without any adverse effects on mother and fetus.

  13. ANAESTHETIC MANAGEMENT IN A PATIENT WITH ARNOLD-CHI ARI MALFORMATION TYPE I AND SYRINGOMYELIA

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    Kartika

    2013-04-01

    Full Text Available ABSTRACT: Syringomyelia is an unusual neurological condition characterised by the the presence of cystic cavity in the spinal cord resultin g in neurological manifestations. Here, we report a safe anesthetic management of patient with Arnold-Ch iari malformation type I and syringomyelia posted for foramen magnum decompression . INTRODUCTION: Arnold-Chiari malformation (ACM is a developmental malformation characterised by downward displacement of cerebellar tonsils into spinal canal due to reduced capacity of the posterior fossa. ACM may be complicate d by other malformations like Platybasia, basilar invagination and occipitalization although S yringomyelia (SM is most commonly seen. [1] There are four types of ACM; types I – IV. Type I ACM manifests with headaches, neck pain, and mild co-ordination problems mostly asymptomatic a nd discovered on brain or cervical spine MRI scans. It has adult onset characterised by downward displacement of cerebellar tonsils and medulla through the foramen magnum. [2] Syringomyelia is an unusual neurological condition characterised by the presence of fluid filled cystic cavity or syrinx within the spin al cord. Ollivies d’ Angers (1827 coined the term syringomyelia from two greek words meaning “ch annel” and “marroin”. [3] It has a prevalence of 8.4 per 100,000 and occurs more frequen tly in men than in women in the third or fourth decade of life. Rarely, it may develop in chi ldhood or late adulthood. [4

  14. Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases

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    Amauri Batista da Silva

    1972-03-01

    Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a diminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados.Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapearing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

  15. Syringomyelia with Chiari I malformation presenting as hip charcot arthropathy: a case report and literature review.

    Science.gov (United States)

    Memarpour, Roya; Tashtoush, Basheer; Issac, Lydia; Gonzalez-Ibarra, Fernando

    2015-01-01

    Neuroarthropathy (neuropathic osteoarthropathy), also known as Charcot joint, is a condition characterized by a progressive articular surface destruction in the setting of impaired nociceptive and proprioceptive innervation of the involved joint. It is seen most commonly in the foot and ankle secondary to peripheral neuropathy associated with diabetes mellitus. Cases of hip (Charcot) neuroarthropathy are rare and almost exclusively reported in patients with neurosyphilis (tabes dorsalis). We report a case of a 36-year-old man who presented to the emergency department complaining of right hip pain. On physical examination, pain and thermal sensory deficits were noted in the upper torso with a cape-like distribution, as well as signs of an upper motor neuron lesion in the left upper and lower extremities. A magnetic resonance imaging study (MRI) of the right hip showed evidence of early articular surface destruction and periarticular edema consistent with hip Charcot arthropathy. An MRI of the spine revealed an Arnold-Chiari type I malformation with extensive syringohydromyelia of the cervical and thoracic spine. PMID:25692057

  16. Chiari Malformation

    Science.gov (United States)

    ... Order Brochures News From NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS Chiari Malformation Fact Sheet See a list of all NINDS Disorders Get Web page suited for printing Email this to a friend ...

  17. Brain Malformations

    Science.gov (United States)

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  18. Gastrointestinal malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen;

    2007-01-01

    risk of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital......The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the study was 14 population-based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs...

  19. Amphibian malformations and inbreeding

    OpenAIRE

    Williams, Rod N.; Bos, David H; Gopurenko, David; DeWoody, J. Andrew

    2008-01-01

    Inbreeding may lead to morphological malformations in a wide variety of taxa. We used genetic markers to evaluate whether malformed urodeles were more inbred and/or had less genetic diversity than normal salamanders. We captured 687 adult and 1259 larval tiger salamanders (Ambystoma tigrinum tigrinum), assessed each individual for gross malformations, and surveyed genetic variation among malformed and normal individuals using both cytoplasmic and nuclear markers. The most common malformations...

  20. Chronic tonsillar herniation: an attempt at classifying chronic hernitations at the foramen magnum.

    Science.gov (United States)

    Friede, R L; Roessmann, U

    1976-03-30

    A system is presented for the classification of chronic herniations of the cerebellar tonsils in the absence of space-occupying intracranial lesions, based on a survey of the literature and 13 own cases. The Arnold-Chiari malformation in adults typically involves herniation of the cerebellar tonsils instead of herniation of the vermis as is typical when it occurs in infancy. Identification of chronic tonsillar herniation with the Arnold-Chiari malformation in adults was thought to require at least one other sign of the Arnold-Chiari complex, e.g. a medullary deformity. Cases for which chronic herniation and sclerosis of the cerebellar tonsils present as the only nervous lesion are classified as "chronic tonsillar herniation". Such cases may manifest with neurological symptoms during adult life, or they may be found incidentally at autopsy. Attention is drawn to the occurrence of chronic tonsillar herniation in 7 infants and children where it apparently represents a cause of sudden unexpected death. The overlap between chronic tonsillar herniation and the Arnold-Chiari malformation of adults is discussed in regard to the frequence of associated osseous anomalies, hydrocephalus and syringomyelia. PMID:1266580

  1. Management of Vascular Malformations

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    Sadanori Akita, MD, PhD

    2014-03-01

    Conclusions: Treatment of vascular malformations is an integral part of multidisciplinary approaches. Venous malformations are more frequent in combination surgery, and if there are fewer complications, the patients’ satisfaction increases.

  2. Posterior fossa craniectomy and C1/C2 laminectomy for Arnold-Chiari II decompression of syrinx

    OpenAIRE

    Zammit, Daniela; Iles, Kelly

    2013-01-01

    This patient was diagnosed shortly after birth with right-sided facial palsy as a result of lower motor neuron facial nerve involvement, together with spinal abnormalities and hearing impairment (patient currently uses hearing aids). He also has 13 ribs on his left side and 11 ribs on the right, hemi-vertebra at T2/T3 and T8/T9 and fused vertebral bodies at C2/C3 and C6/C7. As a result, clinically he has a short neck with restriction of all neck movements, particularly rotation. Patient is al...

  3. Aortic arch malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kellenberger, Christian J. [University Children' s Hospital, Department of Diagnostic Imaging, Zuerich (Switzerland)

    2010-06-15

    Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

  4. Split Cord Malformations

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    Yurdal Gezercan

    2015-06-01

    Full Text Available Split cord malformations are rare form of occult spinal dysraphism in children. Split cord malformations are characterized by septum that cleaves the spinal canal in sagittal plane within the single or duplicated thecal sac. Although their precise incidence is unknown, split cord malformations are exceedingly rare and represent %3.8-5 of all congenital spinal anomalies. Characteristic neurological, urological, orthopedic clinical manifestations are variable and asymptomatic course is possible. Earlier diagnosis and surgical intervention for split cord malformations is associated with better long-term fuctional outcome. For this reason, diagnostic imaging is indicated for children with associated cutaneous and orthopedic signs. Additional congenital anomalies usually to accompany the split cord malformations. Earlier diagnosis, meticuolus surgical therapy and interdisciplinary careful evaluation and follow-up should be made for good prognosis. [Cukurova Med J 2015; 40(2.000: 199-207

  5. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.)

  6. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge;

    2007-01-01

    were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  7. Causes of Congenital Malformations

    OpenAIRE

    J Gordon Millichap

    2002-01-01

    The genetic epidemiology of congenital malformations (CMs) and interaction with environmental causes are reviewed from the Arkansas Center for Birth Defects, Arkansas Children’s Hospital, Little Rock, AS.

  8. Supratentorial CNS malformations

    International Nuclear Information System (INIS)

    Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the

  9. Cefalea en paciente con neurofibromatosis tipo 1

    OpenAIRE

    Herrero Valverde, A; Moiron Simões, R; Mera Campillo, J; Palma, T.

    2007-01-01

    INTRODUCTION: Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome due to a mutation in chromosome 17 (at 17q11.2). The association of NF-1 with Arnold-Chiari I malformation has been previously described. CASE REPORT: A 23 year-old woman diagnosed of NF-1 based on the presence of cutaneous lesions and a familiar background consistent with this was referred to the neurologist due to oppressive frontooccipital bilateral headache that irradiated to both shoulders....

  10. Reconstruction of middle ear malformations

    OpenAIRE

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid ...

  11. Spinal vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Krings, Timo [University Hospital Aachen, Department of Neuroradiology, Aachen (Germany); University Hospital Aachen, Department of Neurosurgery, Aachen (Germany); Mull, Michael; Thron, Armin [University Hospital Aachen, Department of Neuroradiology, Aachen (Germany); Gilsbach, Joachim M. [University Hospital Aachen, Department of Neurosurgery, Aachen (Germany)

    2005-02-01

    Spinal vascular malformations are rare diseases that consist of true inborn cavernomas and arteriovenous malformations (including perimedullary fistulae, glomerular and juvenile AVMs) and presumably acquired dural arteriovenous fistulae. This review article gives an overview of the imaging features both on MRI and angiography, the differential diagnoses, the clinical symptomatology and the potential therapeutic approaches to these diseases. It is concluded that MRI is the diagnostic modality of first choice in suspected spinal vascular malformation and should be complemented by selective spinal angiography. Treatment in symptomatic patients offers an improvement in the prognosis, but should be performed in specialized centers. Patients with spinal cord cavernomas and perimedullary fistulae type I are surgical candidates. Dural arteriovenous fistulae can either be operated upon or can be treated by an endovascular approach, the former being a simple, quick and secure approach to obliterate the fistula, while the latter is technically demanding. In spinal arteriovenous malformations, the endovascular approach is the method of first choice; in selected cases, a combined therapy might be sensible. (orig.)

  12. Spinal vascular malformations

    International Nuclear Information System (INIS)

    Spinal vascular malformations are rare diseases that consist of true inborn cavernomas and arteriovenous malformations (including perimedullary fistulae, glomerular and juvenile AVMs) and presumably acquired dural arteriovenous fistulae. This review article gives an overview of the imaging features both on MRI and angiography, the differential diagnoses, the clinical symptomatology and the potential therapeutic approaches to these diseases. It is concluded that MRI is the diagnostic modality of first choice in suspected spinal vascular malformation and should be complemented by selective spinal angiography. Treatment in symptomatic patients offers an improvement in the prognosis, but should be performed in specialized centers. Patients with spinal cord cavernomas and perimedullary fistulae type I are surgical candidates. Dural arteriovenous fistulae can either be operated upon or can be treated by an endovascular approach, the former being a simple, quick and secure approach to obliterate the fistula, while the latter is technically demanding. In spinal arteriovenous malformations, the endovascular approach is the method of first choice; in selected cases, a combined therapy might be sensible. (orig.)

  13. Cerebral malformations without antenatal diagnosis

    International Nuclear Information System (INIS)

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  14. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

    2010-06-15

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  15. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  16. Classification and diagnosis of ear malformations

    OpenAIRE

    Bartel-Friedrich, Sylva; Wulke, Cornelia

    2008-01-01

    In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90%) and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations) or acquired in nature. Malformations can affect the outer ear (pinna and externa...

  17. Treatment of congenital malformations.

    Science.gov (United States)

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  18. Systemic to pulmonary vascular malformation.

    Science.gov (United States)

    Pouwels, H M; Janevski, B K; Penn, O C; Sie, H T; ten Velde, G P

    1992-11-01

    A case is reported of life-threatening haemoptysis as a result of an anomalous communication between a bronchial artery and pulmonary vein, demonstrated by angiography. The patient recovered following bilobectomy of the right lower and middle lobes. When a systemic artery is involved in an arteriovenous malformation of the lung, haemodynamics are different compared with those present in malformations fed by the pulmonary artery. This implicates other clinical features, options for surgical intervention and prognosis. In reviewing the literature, a relationship with Rendu-Osler-Weber disease is absent in these specific malformations. PMID:1486979

  19. Cerebellar Malformations and Cognitive Disdorders

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-10-01

    Full Text Available The behavioral developmental profile of 27 children and adults (17 males and 10 females with congenital cerebellar malformations was determined in a clinical, neuroradiological and neuropsychological study at the Scientific Institute 'E Medea', University of Milano, Italy.

  20. Anencephaly and its Associated Malformations

    OpenAIRE

    Gole, Ravikiran Ashok; Meshram, Pritee Madan; Hattangdi, Shanta Sunil

    2014-01-01

    Introduction: Anencephaly is a serious neural tube defect in which parts of the brain and skull are not developed. But apart from this it is also associated with other malformations which are not related to neural tube in development.

  1. Anorectal malformations in neonates

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2011-01-01

    Full Text Available Background : Anorectal malformations (ARM are associated with congenital anomalies and other risk factors, yielding a poor prognosis, especially in neonatal life. Objectives: This study was performed to identify the congenital anomalies as a factor of poor prognosis (mortality in such patients. Settings: Department of Pediatric surgery, The Children′s Hospital and The Institute of Child Health, Lahore. Design: Prospective observational study, with statistical support. Materials and Methods: The information on the demography, clinical features, investigations, management performed, and outcome was entered in the designed proforma and analysed with the help of statistical software EpiInfo version 3.5.1. Statistical test: Chi-square test was used to determine statistical significance of the results. Results : Of 100 neonates with ARM, 77 were male and 23, female (3.4:1. The mean age at presentation was 3.4 days (range, 12 hrs to 28 days. In 60 patients (60%, the presentation was imperforate anus without a clinically identified fistula. In 28 patients (28%, associated anomalies were present. The common associated anomalies were urogenital (10%, cardiovascular (8%, and gastrointestinal (6%. Down′s syndrome was present in 8 (8% patients. A total of 15 (15% deaths occurred in this study. In patients having associated congenital anomalies, 11 deaths occurred, whereas, 4 deaths were in patients without associated anomalies (P < 0.5. Conclusion : The mortality is higher in neonates with ARM having associated congenital anomalies.

  2. Pulmonary arteriovenous malformations.

    Science.gov (United States)

    Shovlin, Claire L

    2014-12-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  3. Vascular malformations of the spine

    International Nuclear Information System (INIS)

    The vascular malformations of the spine and spinal cord are rare diseases. Possible symptoms may consist in a transient neurological deficit, a progressive sensorimotor transverse lesion or an acute para- or tetraplegia. Damage to the spinal cord occurs by bleeding, space-occupying effects and venous congestion, rarely by steal effects. Classification of the true inborn malformations differentiates between arteriovenous malformations (AVMs), cavernomas and capillary teleangiectasias. The more frequent spinal dural arteriovenous fistula (SDAVF) of the elderly patient is a probably acquired lesion which is presented in a separate paper. Capillary teleangiectasias are mostly incidental findings but may cause differential diagnostic problems. Cavernomas are important causes of hemorrhage and may initially be obscured within the bleeding. MRI is the most relevant imaging procedure in the early diagnostic workup. In case of an AVM selective spinal angiography is required to define the type of the lesion and to decide about the appropriate therapy which may be endovascular-interventional, neurosurgical, combined or attentive. (orig.)

  4. Evolutionary origin of cardiac malformations.

    Science.gov (United States)

    Taussig, H B

    1988-10-01

    The author has proposed in previous publications that isolated cardiac malformations have an evolutionary origin. This is partly supported by the fact that isolated cardiac malformations found in humans occur also in other placental mammals as well as in birds. External gross examination of the heart in just over 5,000 birds was carried out during a 3 year period. Anomalies included one instance of duplicate hearts, two specimens in which no heart could be identified and in a fourth, a yellow-rumped warbler, the heart lay in the neck outside of the thoracic cavity. Published reports of similar occurrences of an ectopically placed heart concern birds, cattle and humans. The fact that various species of both placental mammals and birds show evidence of heritability for heart defects, and that these species cannot interbreed, combined with the fact that birds and mammals have many similar malformations, points to either a common external causative factor or a common origin. Genes that code the malformed heart must be transmitted with that part of the genetic makeup common to all birds and mammals. Malformations caused by teratogens produce widespread organ injury to a potentially normal embryo whereas the evolutionary malformation is an organ-specific anomaly in an otherwise normal mammal or bird and occurs in widely separated species. The implications of this theory are important for parents of children with an isolated congenital heart defect who may have ingested one or another drug or chemical or have been exposed to toxins or infectious agents before or after conception of the affected offspring. PMID:3047192

  5. Arteriovenous Malformation of the Pancreas

    Directory of Open Access Journals (Sweden)

    Alexandros Charalabopoulos

    2011-01-01

    Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

  6. Spinal vascular malformations; Spinale Gefaessmalformationen

    Energy Technology Data Exchange (ETDEWEB)

    Yilmaz, U. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany)

    2012-05-15

    Spinal vascular malformations are a group of rare diseases with different clinical presentations ranging from incidental asymptomatic findings to progressive tetraplegia. This article provides an overview about imaging features as well as clinical and therapeutic aspects of spinal arteriovenous malformations, cavernomas and capillary telangiectasia. (orig.) [German] Spinale Gefaessmalformationen sind eine Gruppe seltener Erkrankungen mit unterschiedlichen klinischen Praesentationen, die vom asymptomatischen Zufallsbefund bis zur progredienten Tetraparese reichen. Dieser Artikel gibt einen Ueberblick ueber radiologische Befunde sowie klinische und therapeutische Aspekte von spinalen arteriovenoesen Malformationen, Kavernomen und kapillaeren Teleangiektasien. (orig.)

  7. Pediatric central nervous system vascular malformations

    International Nuclear Information System (INIS)

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  8. Pediatric central nervous system vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)

    2015-09-15

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  9. Ectrodactyly/split hand feet malformation

    OpenAIRE

    Jindal Geetanjali; Parmar Veena; Gupta Vipul

    2009-01-01

    Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

  10. Abernethy malformation: a case report

    Directory of Open Access Journals (Sweden)

    Pathak Ashish

    2012-05-01

    Full Text Available Abstract Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

  11. Arteriovenous Malformation: A Case Report

    International Nuclear Information System (INIS)

    The present case illustrates an arteriovenous malformation of the cheek in a 25-year-old male. The clinical presentation, radiographic findings, differential diagnosis, treatment and histopathologic description are presented. Diagnosis of the lesion was confirmed by angiography, and the lesion was treated by angiographically controlled vascular embolization followed by complete surgical excision.

  12. Reconstruction of middle ear malformations

    Directory of Open Access Journals (Sweden)

    Schwager, Konrad

    2007-01-01

    Full Text Available Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients.

  13. CLINICAL STUDY OF ANORECTAL MALFORMATIONS

    OpenAIRE

    Umesh; Sowmya,

    2015-01-01

    BACKGROUND: A norectal malformations are relatively encountered anomalies. Presentations may vary from mild to severe and bowel control is t he main concern. AIM: To study the modes of presentation , types of anomalies , associated anomalies , reliability of clinical signs and radiological investigations in the diagnosis and the prognosis and continence in the post - operative in relation to type of anomaly and associated anomaly (s)...

  14. Classification and diagnosis of ear malformations

    Directory of Open Access Journals (Sweden)

    Bartel-Friedrich, Sylva

    2007-01-01

    Full Text Available In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90% and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations or acquired in nature. Malformations can affect the outer ear (pinna and external auditory canal, EAC, middle ear and inner ear, not infrequently in combination. Formal classification is advisable in order to be able to predict the prognosis and compare treatment schedules. Various classifications have been proposed: pinna and EAC malformations according to Weerda [1], middle ear malformations according to Kösling [2], and inner ear malformations according to Jackler [3], [4], to Marangos [5] and to Sennaroglu [6]. Additionally, we describe Altmann’s classification of atresia auris congenita [7] and the Siegert-Mayer-Weerda score [8] for EAC and middle ear malformations, systems of great practicability that are in widespread clinical use. The diagnostic steps include clinical examination, audiological testing, genetic analysis and, especially, CT and MRI. These imaging methods are most usefully employed in combination. Precise description of the malformations by means of CT and MRI is indispensable for the planning and successful outcome of operative ear reconstruction and rehabilitation procedures, including cochlear implantation.

  15. Intraneural Venous Malformations of the Median Nerve

    Science.gov (United States)

    González Rodríguez, Alba; Midón Míguez, José

    2016-01-01

    Venous malformations arising from the peripheral nerve are a rare type of vascular malformation. We present the first case of an intraneural venous malformation of the median nerve to be reported in a child and review the previous two cases of median nerve compression due to a venous malformation that have been reported. These cases presented with painless masses in the volar aspect of the wrist or with symptoms suggestive of carpal tunnel syndrome. Clinical suspicion should lead to the use of Doppler ultrasonography as the first-line diagnostic tool. Magnetic resonance imaging and histopathology can confirm the diagnosis, as phleboliths are pathognomonic of venous malformations. Surgical treatment appears to be the only modality capable of successfully controlling the growth of an intraneural malformation. Sclerotherapy and radiotherapy have never been used to treat this type of malformation.

  16. Perinatal risk factors including malformation

    International Nuclear Information System (INIS)

    The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG)

  17. CLINICAL STUDY OF ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Umesh

    2015-01-01

    Full Text Available BACKGROUND: A norectal malformations are relatively encountered anomalies. Presentations may vary from mild to severe and bowel control is t he main concern. AIM: To study the modes of presentation , types of anomalies , associated anomalies , reliability of clinical signs and radiological investigations in the diagnosis and the prognosis and continence in the post - operative in relation to type of anomaly and associated anomaly (s. MATERIAL AND METHODS: 50 cases of anorectal malformations admit ted to Department of Paediatric Surgery , in Medical Coll ege and Research Institute , were included in the study. Data related to the objectives of the study were collected. RESULTS: Commonest mode of presentation was failure to pass meconium 50%. 59% of mal es had high anomalies , while 53% females had intermediate anomalies. The diagnosis of low anomaly was made clinically , while high and intermediate anomalies needed further investigations. Associated anomalies were noted in 46.6% of the cases. 71.42% of the se patients had either a high or intermediate ARM. All patients with high anomalies underwent a 3 stage procedure , while low anomalies underwent a single stage procedure followed by anal dilatations. Rectal mucosal prolapse (2 cases , wound infection (4 ca ses , stenosis (3 cases , retraction of neo anus (1 case was seen. All the patients with low anomalies had a good functional result post operatively , while 57% and 28% of patients with intermediate and high anomalies had good results. CONCLUSION : Anorectal malformations are common congenital anomalies. Males are more commonly affected (1.3:1. Low anomalies are the commonest lesions noted in both the sexes (36.67%. High anomalies are more frequent in males. Invertogram offer an accurate diagnosis for planning management in patients with anorectal malformations. Low anomalies have a better outcome following surgery. For intermediate and high anomalies a staged repair offers better results

  18. MR imaging evaluation of tethered spinal cord

    International Nuclear Information System (INIS)

    Seven cases of tethered cord underwent magnetic resonance imaging. The associated findings included the following: case 1: caudal regression, inperforated anus, cutaneovesical fistula, and diverticulum of the bladder; case 2: Arnold-Chiari malformation, hydromyelia, and urinary reflux; case 3; lipoma; case 4: postoperative syringomyelia and residual lipoma; case 5: diastematomyelia and spinal bifida; case 6: dysraphism, diastematomyelia, and myelomeningocele; and case 7: postoperative split cord T1-weighted axial and sagittal images are sufficient for evaluation of tethered cord and associated anomalies and are also useful for postoperative follow-up and the detection of possible complications

  19. Ectrodactyly/split hand feet malformation

    Directory of Open Access Journals (Sweden)

    Jindal Geetanjali

    2009-01-01

    Full Text Available Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

  20. Spontaneous ileal perforation complicating low anorectal malformation

    Directory of Open Access Journals (Sweden)

    TiJesuni Olatunji

    2015-01-01

    Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

  1. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

    International Nuclear Information System (INIS)

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in those with Chiari 1 malformation

  2. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2014-11-15

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in

  3. Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity?

    Science.gov (United States)

    Kalani, M Yashar S; Zabramski, Joseph M; Martirosyan, Nikolay L; Spetzler, Robert F

    2016-03-01

    Vascular malformations of the central nervous system are thought to originate from abnormal developmental processes during embryogenesis. Reports have cited the dynamic nature of these lesions and their "maturation" into other types of malformations. Herein we report on three patients with vascular malformations who exhibited dynamic alterations with stepwise progression of their lesions. These cases lend support to the hypothesis that these malformations may constitute the spectrum of a single disease caused by alterations in a common developmental program and that accumulating injury (e.g., by radiation) may allow one malformation type to mature into another. This concept warrants further investigation. PMID:26743915

  4. Subfascial involvement in glomuvenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shaikh, Raja; Alomari, Ahmad I.; Chaudry, Gulraiz [Boston Children' s Hospital, Division of Interventional Radiology, Boston, MA (United States); Mulliken, John B. [Boston Children' s Hospital, Division of Plastic Surgery, Boston, MA (United States); Fishman, Steven J. [Boston Children' s Hospital, Department of Surgery, Boston, MA (United States); Kozakewich, Harry P.W. [Boston Children' s Hospital, Department of Pathology, Boston, MA (United States)

    2014-07-15

    Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

  5. Cerebellar arteriovenous malformations in children

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)

    1998-05-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

  6. Cerebellar arteriovenous malformations in children

    International Nuclear Information System (INIS)

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.)

  7. Subfascial involvement in glomuvenous malformation

    International Nuclear Information System (INIS)

    Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

  8. Megadolicho vascular malformation of the intracranial arteries.

    Science.gov (United States)

    Lodder, J; Janevski, B; van der Lugt, P J

    1981-01-01

    A patient is presented suffering a hemiparesis. Megadolicho-vascular malformation of the intracranial part of the internal carotid arteries and some of its branches and of the basilar artery was suggested by CT and confirmed by angiography. The value of CT compared with angiography in relation to intracranial megadolicho vascular malformations is discussed. PMID:6273040

  9. Skeletal malformations in fetuses with Meckel syndrome

    DEFF Research Database (Denmark)

    Kjaer, K W; Fischer Hansen, B; Keeling, J W;

    1999-01-01

    one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included in the...

  10. Renal tract malformations: perspectives for nephrologists.

    NARCIS (Netherlands)

    Kerecuk, L.; Schreuder, M.F.; Woolf, A.S.

    2008-01-01

    Renal tract malformations are congenital anomalies of the kidneys and/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dyspl

  11. Congenital malformations in multiple births

    Directory of Open Access Journals (Sweden)

    Sharada B. Menasinkai

    2013-06-01

    Full Text Available Objective: The present study was done to know and compare the incidence of congenital malformations in singleton and multiple births in our hospital & compare with other studies. Methods: A retrospective study done by collecting the data from parturition register from Jan 2008 to Dec 2011 (4yrs from Cheluvamba Hospital attached to Mysore Medical College and Research Institute. Total number of the live births, still births, and abortions> 20 wks were collected. Details of multiple births such as maternal age, gestational age, sex & birth weight of the babies, U/S reports and congenital anomalies (CA were noted. Results: The total number of singleton births were 48700 and number of babies who had congenital malformations were 235 (48.25/10,000 births.Total number of multiple births were 579 including 10 triplets and number of babies who had CA were 11 (189.98/10,000 births, P<0.0001. In the present study sex of the babies were noted in all multiple births and zygosity could not be recorded. Among 579 multiple births 404 were of the Same Sex (SS and 165 were of Opposite Sex (OS in twins and 6 were of the same sex and 4 were of opposite sex in triplets. According to Weinberg formula 50% of same sex (SS twins are monozygotic and 50% are dizygotic twins. Among the 11 babies with CA, 4 monozygotic twins had anomalies related to twinning such as Acardia with TRAP sequence (3 twins, and Thoracophagus (1 twin.5 babies had CNS anomalies, 1 with cystic hygroma, 1 baby with multiple system affected. Conclusion: The incidence of birth defects is more in multiple births and especially in monozygotic twins. In the present days increase in twinning rate due to advanced maternal age, hereditary factors and use of ovulation inducing drugs, which results in premature and low birth wt babies associated with poor lung maturity. [Int J Res Med Sci 2013; 1(3.000: 216-221

  12. Characterization of Live Birth with Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Carlos Acosta Batista

    2015-06-01

    Full Text Available Background: the congenital malformations constitute the first cause of infantile death in developed countries, as well as the second cause of death in Cuba, in younger children of an elderly year. Objective: characterizing the live birth newborns with congenital malformations at Marianao municipality during the year 2011. Methods: descriptive, cross-section study of 30- live birth with congenital malformations at Marianao municipality in Havana, during the year 2011. Some of analyzed variables were: sex, affected system, congenital malformation, type of malformation, severity, birth weight, gestational age, prenatal diagnosis, family history of congenital malformation, maternal age, among others. Results: the masculine sex was the more affected, with 18 cases that represented the 60 %. The Polydactyl was the malformation further frequent, with 23.3 %, followed by the pre-aural appendix, with 10 %. The 20 % was born pre-term and only in the 10 % of the cases was obtained a positive result in the tests of prenatal diagnosis. Conclusions: the live birth with MC were characterized to be males with isolated MC and less severe, full term, normopeso, without family history of the aforementioned affection and with a negative prenatal diagnosis. The majority of mothers belonged to 20-35's age group years, they suffered from hypertension and during pregnancy, the principal diseases that they presented were the sepsis and anemia.

  13. Advanced Imaging of Chiari 1 Malformations.

    Science.gov (United States)

    Fakhri, Akbar; Shah, Manish N; Goyal, Manu S

    2015-10-01

    Type I Chiari malformations are congenital deformities involving cerebellar tonsillar herniation downward through the foramen magnum. Structurally, greater than 5 mm of tonsillar descent in adults and more than 6 mm in children is consistent with type I Chiari malformations. However, the radiographic severity of the tonsillar descent does not always correlate well with the clinical symptomatology. Advanced imaging can help clinically correlate imaging to symptoms. Specifically, cerebrospinal fluid (CSF) flow abnormalities are seen in patients with type I Chiari malformation. Advanced MRI involving cardiac-gated and phase-contrast MRI affords a view of such CSF flow abnormalities. PMID:26408061

  14. Ultrasound evaluation of female genital system malformations

    International Nuclear Information System (INIS)

    An anatomical study of uterine malformation has become quite frequent in obstetrics and gynaecology because of the increasing use of corrective surgery. More than 100 cases were reviewed and the authors discuss some examples in order to present all kinds of uterine malformations which can be detected by ultrasound together with hysterosalpingography. A comparison of the diagnostic data obtained with the two methods shows US to be able to solve several cases. Hysterosalpingography is mandatory in famale infertility when there is a need for examining Fallopian tube patency in addition to the morphological characteristics of the uterine cavity. The results obtained with the two methods in the syudy of uterine malformations allow the formulation of a diagnostic protocol concerning the study of infertile women. First of all, US must be performed, in order to exclude some causes of overian infertility and major uterine malformations. Hysterosalpingography should be performed when US does not prove to be totally reliable

  15. Update on the management of anorectal malformations.

    Science.gov (United States)

    Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

    2013-09-01

    Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period. PMID:23913263

  16. What Is an Arteriovenous Malformation (AVM)?

    Science.gov (United States)

    ... T. Quiz 5 Things to Know About Stroke What Is an Arteriovenous Malformation (AVM)? Updated:Jun 20, ... About AVMs Symptoms and Bleeding Diagnosis and Treatment What is a brain AVM? Normally, arteries carry blood ...

  17. Malformed frog survey Dahomey NWR - 2001

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report contains field data sheets assoicated with malformed frog survey on Dahomey NWR in 2001. Work was done in support of regional sampling on refuges for...

  18. Genetics Home Reference: cerebral cavernous malformation

    Science.gov (United States)

    ... Awad IA. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance. Neurosurgery. 2004 Jul;55(1): ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  19. Human malformations induced by environmental noxae

    International Nuclear Information System (INIS)

    The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals. (MG)

  20. Neuraxis Cavernous Malformations: a Four Cases Report

    OpenAIRE

    Yandy Prieto Leyras; José Ramón Tejera del Valle; Mary Juliette Bonilla López; Néstor Pulido Ríos

    2013-01-01

    Cavernous malformations are benign vascular tumors, with a raspberry-like morphology, commonly described as part of the group of the so called cryptic vascular malformations, which are rare neurological presentations. They are considered to be a controversial chapter in neuroscience due to the clinical-topographic variability of their presentation. Their management remains controversial. We present the cases of four patients with neuraxis cavernomas who are characterization from clinical and ...

  1. Terminal hemimyelocystocele associated with Chiari II malformation

    Directory of Open Access Journals (Sweden)

    Umamaheswara Reddy V.

    2014-06-01

    Full Text Available Terminal myelocystocele (TMC results from failure of embryonic CSF to drain outside the neural tube creating CSF reservoir within a dorsal meningocele. Association of Chiari II malformation with diastematomyelia and myelocystocele is extremely rare. Myelocystoceles do not have neural tissue so they have good prognosis after treatment, however when associated with hydromelia and Chiari malformation they present with neurological deficits. We present details of a 2 year old female who presented to us with this rare anomaly.

  2. Congenital vascular malformations in scintigraphic evaluation

    OpenAIRE

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies a...

  3. Animal Models in Studying Cerebral Arteriovenous Malformation

    OpenAIRE

    Ming Xu; Hongzhi Xu; Zhiyong Qin

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal ...

  4. Lymphangiosarcoma complicating extensive congenital mixed vascular malformations.

    Science.gov (United States)

    Al Dhaybi, Rola; Agoumi, Mehdi; Powell, Julie; Dubois, Josée; Kokta, Victor

    2010-09-01

    Pediatric hepatic angiosarcoma is a very rare malignant vascular tumor. A few cases have shown pediatric hepatic angiosarcoma occurring on a background of preexisting vascular lesions. We report the case of a newborn girl who presented extensive limbs and upper trunk cutaneous mixed vascular malformations at birth. These malformations were associated with thrombocytopenia. Cutaneous biopsies revealed complex vascular malformations with a significant lymphatic component. Compressive body suit therapy led to regression of the limbs' cutaneous vascular malformations. At the age of 9 months, the patient presented multiple heterogeneous hepatosplenic nodules. Aggressive treatment with prednisone, vincristine, and hepatosplenic embolizations resulted in initial improvement of the hepatosplenic lesions for few months, followed by an increase of the lesions with failure of response to treatment despite adding alpha-interferon-2b to treatment. The patient died at the age of 19 months. The autopsy's pathological examination revealed a hepatic-based angiosarcoma with plurimetastatic dissemination to the spleen, lungs, peritoneum, pleura, mesenteric linings as well as the serosa of the stomach and small intestine. Multiple cutaneous and visceral complex capillaro-lymphatico-venous malformations were also identified. We hypothesize that these multiple extensive mixed vascular malformations were associated with chronic lymphedema which probably predisposed to the development of the angiosarcoma in our patient. PMID:20863270

  5. Management of intracranial arteriovenous malformations

    International Nuclear Information System (INIS)

    Intracranial arteriovenous malformations (AVMs) are congenital lesions that can cause serious neurological deficits or even death. They can manifest as intracranial hemorrhage, epileptic seizure, or other symptoms such as headache or tinnitus. They are detected by computed tomography or magnetic resonance imaging. Recently there have been significant developments in the management of AVMs. In this paper, the authors represent an overview of the epidemiology of AVMs and the existing treatment strategies. AVMs are ideally excised by standard microsurgical techniques. The grading scale which was proposed by Spetzler and Martin is widely used to estimate the risk of direct surgery. Stereotactic radiosurgery such as that using a gamma knife is very useful for small lesions located in eloquent areas. Technological advances in endovascular surgery have provided new alternatives in the treatment of AVMs. Currently indications for embolization can be divided into presurgical embolization in large AVMs to occlude deep arterial feeding vessels and embolization before stereotactic radiosurgery to reduce the size of the nidus. Palliative embolization can be also applied for patients with large, inoperable AVMs who are suffering from progressive neurological deficits secondary to venous hypertension and/or arterial steal phenomenon. (author)

  6. Ethanol sclerotherapy of peripheral venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

    2004-12-01

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

  7. Spectrum of urorectal septum malformation sequence.

    Science.gov (United States)

    Shah, Krupa; Nayak, Shalini S; Shukla, Anju; Girisha, Katta M

    2016-05-01

    Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob-like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS. PMID:26663027

  8. Ethanol sclerotherapy of peripheral venous malformations

    International Nuclear Information System (INIS)

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur

  9. Sex hormone exposure during pregnancy and malformations.

    Science.gov (United States)

    Briggs, M H; Briggs, M

    1979-01-01

    This general review of the effects of exposure to sex hormones during pregnancy and subsequent fetal malformation presents summaries of animal studies, develops the data indicating virilization and feminization in humans, documents chromosome abnormalities, and presents data on the connection of steroid exposure in utero and somatic malformations. Fetal exposure can occur 3 different ways, through hormonal pregnancy test, via obstetrical use of hormones, or because of continued maternal use of oral contraceptives after conception. In the latter case, an ongoing prospective study indicates that accidental ingestion of oral contraceptives after conception is not harmful to the fetus if taken during early pregnancy. Tables present summaries of numerous large surveys and retrospective studies linking particular sex hormones (exogenous) to particular fetal malformations including neural tube defects and other constellations of developmental problems. The question of exogenous hormone effects on the personality of infants who were exposed in utero is addressed. PMID:400321

  10. Neuraxis Cavernous Malformations: a Four Cases Report

    Directory of Open Access Journals (Sweden)

    Yandy Prieto Leyras

    2013-04-01

    Full Text Available Cavernous malformations are benign vascular tumors, with a raspberry-like morphology, commonly described as part of the group of the so called cryptic vascular malformations, which are rare neurological presentations. They are considered to be a controversial chapter in neuroscience due to the clinical-topographic variability of their presentation. Their management remains controversial. We present the cases of four patients with neuraxis cavernomas who are characterization from clinical and imaging standpoint, up to their final outcome. Early detection, understanding, and better management of the neuraxis cavernous malformations are the result of contemporary technological advances. The historical review on the subject shows the difference between the few cases that could be clinically diagnosed through conventional radiology and the largest number of lesions detected at autopsy or during surgery.

  11. Interventional treatment of pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high...... risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries...... the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT....

  12. VASCULAR MALFORMATION OF CHEEK: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Faiz

    2015-02-01

    Full Text Available Vascular lesions are among the most common congenital and neonatal abnormalities. Most of the congenital vascular malformations are often misdiagnosed and left untreated. These lesions are the result of an embryonic abnormality of the vascular system. This is a case report of 13 year male patient who came with a chief complaint of swelling on the right side of face since birth. It was diagnosed as vascular malformations of buccal mucosa of right side. It is emphasized that the management of these cases requ ires a multidisciplinary approach. Laser therapy, embolization followed by surgical excision is the favourable treatment modalities.

  13. Total knee arthroplasty in vascular malformation

    Directory of Open Access Journals (Sweden)

    Harish Bhende

    2015-01-01

    Full Text Available In Klippel–Trenaunay syndrome, vascular malformations are not only in skin and superficial soft tissues but also in deep tissues like muscles bones and joints. It is well documemted that these recurrent intraarticular bleeds can cause early arthritis and joint pain. Performing arthroplasty in such patients is difficult and fraught with complications. We describe such a case where navigated total knee arthroplasty was performed with success to avoid the problems of intra medullary alignment used in the presence of intra medullary vascular malformations. We also suggest certain measures when knee arthroplasty is considered in such patients.

  14. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    International Nuclear Information System (INIS)

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  15. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  16. Arteriovenous malformation in the cerebellopontine angle presenting as trigeminal neuralgia

    Directory of Open Access Journals (Sweden)

    Paulo C. Figueiredo

    1989-03-01

    Full Text Available A case of arteriovenous malformation of the left cerebellopontine angle causing symptoms of ipsilateral trigeminal neuralgia is reported. Pain relief followed microsurgical removal of the malformation. The authors review the literature on the subject.

  17. Effect of Pingyangmycin on human venous malformation endothelial cells

    Institute of Scientific and Technical Information of China (English)

    Yi Fang Zhao; Zhi Jun Sun; Yu Lin Jia; Jun Jia; Ya Meng Si; Ji Hong Zhao; Wen Feng Zhang

    2008-01-01

    @@ Purpose: Venous malformations are common vascular anomalies with a propensity of the head and neck. Intralesional injection of Pingyangmycin (PYM, bleomycin A5 hydrochloride) is a widely used sclerotherapy method for the treatment of venous malformation.

  18. Combined Lymphedema and Capillary Malformation of the Lower Extremity

    OpenAIRE

    Maclellan, Reid A.; Chaudry, Gulraiz; Greene, Arin K.

    2016-01-01

    Background: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel–Trenaunay and Parkes Weber). Methods: Our Vascular Anomalies Center and Lymphedema Program databases were searched for patients with both ...

  19. Acquired pulmonary arteriovenous malformation secondary to hydatid cyst operation.

    Science.gov (United States)

    Gezer, S; Turut, H; Oz, G; Demirag, F; Tastepe, I

    2007-10-01

    Pulmonary arteriovenous malformations are abnormal communications between pulmonary arteries and pulmonary veins. The majority of the cases are congenital in origin, and acquired pulmonary arteriovenous malformations are very rare. We present a case here, which - to the best of our knowledge - is the first acquired pulmonary arteriovenous malformation secondary to a hydatid cyst operation in the literature, and we discuss the etiology, clinical presentation, diagnostic modalities and treatment of acquired pulmonary arteriovenous malformations. PMID:17902072

  20. [Lymphatic malformations in the head and neck area].

    Science.gov (United States)

    Wiegand, S; Werner, J A

    2016-02-01

    Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies. PMID:26820157

  1. A STUDY OF POSTERIOR FOSSA MALFORMATIONS: MR IMAGING

    Directory of Open Access Journals (Sweden)

    Ravi

    2015-02-01

    Full Text Available AIMS AND OBJECTIVES: The aim of our study is to describe the imaging findings of various posterior fossa malformations and to evaluate the supratentorial abnormalities associated with posterior fossa malformations. MATERIALS AND METHODS: MR images of 30 patients wi th posterior fossa malformations detected in the department of Radiodiagnosis, BMCRI over a period of two years, from December 2012 to December 2014 were evaluated retrospectively. The various posterior fossa malformations were evaluated. Associated suprat entorial abnormalities were noted. RESULTS: 30 patients with posterior fossa malformations were included in the study. The age group of patients ranged from 1year to 53years. There were 18 males and 12 females. The various posterior fossa malformations det ected were Dandy Walker malformation (1 case, Dandy Walker variant (2 cases, mega cisterna magna (8 cases, arachnoid cysts (5 cases, Chiari 1 malformation (5 cases, Chairi 2 malformation (2 cases, Joubert malformation (1 case, lipoma (2 cases, verm ian and/or cerebellar hypoplasia without posterior fossa CSF collection or cyst (4 cases. Associated supratentorial abnormalities were seen in 8 cases . CONCLUSION: MRI is the imaging modality of choice in the evaluation of posterior fossa malformations. I t is very important to know the imaging findings of these malformations and to have knowledge about the various supratentorial and spinal abnormalities associated with them so as to provide an accurate diagnosis which is very essential for predicting the p rognosis and planning further management.

  2. Communicating bronchopulmonary foregut malformation: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Chang Yeol; Goo Hyun Woo; Kim, Hyun Joo; Choi, Soo Jung; Cho, Yong Soo; Lee, Jean Hwa; Yoon, Chong Hyun; Lim, Tae Hwan [Asan Medical Center, College of Medicine, University of Ulsan, Seoul (Korea, Republic of)

    2000-07-01

    Communicating bronchopulmonary foregut malformations are rare tracheobronchial anomalies characterized by a fistula between an isolated portion of respiratory tissue and the esophagus or stomach. We describe a case of CBFM in which chest radiography revealed total haziness in the right lung field. The diagnosis was confirmed by esophagography. (author)

  3. Communicating bronchopulmonary foregut malformation: a case report

    International Nuclear Information System (INIS)

    Communicating bronchopulmonary foregut malformations are rare tracheobronchial anomalies characterized by a fistula between an isolated portion of respiratory tissue and the esophagus or stomach. We describe a case of CBFM in which chest radiography revealed total haziness in the right lung field. The diagnosis was confirmed by esophagography. (author)

  4. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

    Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

  5. Do cerebral arteriovenous malformations increase in size?

    OpenAIRE

    Mendelow, A D; Erfurth, A.; Grossart, K; MacPherson, P.

    1987-01-01

    Six patients are reported with cerebral arteriovenous malformations which have enlarged over follow up periods of from 4 to 20 years. The frequency of spontaneous enlargement is estimated to range from 0.2% to 2.8% per annum. This rate of enlargement should be considered when treatment options are reviewed in individual patients, and should be added to the risk of haemorrhage.

  6. Congenital spinal malformations; Kongenitale spinale Malformationen

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

  7. Dural Sinus Malformation with Dural Arteriovenous Fistula

    OpenAIRE

    Yau, C.Kwong; Alvarez, H.; Lasjaunias, P.

    2001-01-01

    A rare case of dural sinus malformation with dural arteriovenous fistula in an infant is presented. Presenting symptom was progressive macrocrania without hydrocephalus. A high flow arteriovenous of the sigmoid sinus associated with jugular bulb diaphragm was demonstrated. Reflux in the intracranial sinus was present. The shunt was successfully occluded by transarterial embolization. The natural history and treatment strategy are discussed.

  8. Spontaneous pneumothorax in cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Spontaneous pneumothorax as the initial manifestation of cystic adenomatoid malformation of the lung is rare. Only four cases have been reported in the English literature. We add one more case, and review the clinical and roentgenographic findings. All the patients presented later in infancy or childhood and the cyst type appear to belong to Madewell's dominant cyst type. (orig.)

  9. Spontaneous pneumothorax in cystic adenomatoid malformation

    Energy Technology Data Exchange (ETDEWEB)

    Gaisie, G.; Sang Oh, K.

    1983-07-01

    Spontaneous pneumothorax as the initial manifestation of cystic adenomatoid malformation of the lung is rare. Only four cases have been reported in the English literature. We add one more case, and review the clinical and roentgenographic findings. All the patients presented later in infancy or childhood and the cyst type appear to belong to Madewell's dominant cyst type.

  10. Fetal MRI clues to diagnose cloacal malformations

    International Nuclear Information System (INIS)

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  11. Coexistent arteriovenous malformation and hippocampal sclerosis.

    Science.gov (United States)

    Prayson, Richard A; O'Toole, Elizabeth E

    2016-06-01

    Cavernous angiomas or cavernomas have been occasionally described in patients presenting with medically intractable epilepsy. Reports of cavernomas associated with a second pathology potentially causative of seizures have rarely been documented; most commonly, the second pathology is focal cortical dysplasia or less frequently, hippocampal sclerosis. To our knowledge, cases of arteriovenous malformation arising in this clinical setting and associated with hippocampal sclerosis have not been previously described. We report a 56-year-old woman who initially presented at age 24years with staring spells. Imaging studies revealed an arteriovenous malformation in the right parietal lobe. At age 51years, she represented with signs and symptoms related to a hemorrhage from the malformation. The patient underwent Gamma Knife radiosurgery (Elekta AB, Stockholm, Sweden) of the lesion. She subsequently developed seizures, refractory to medical management. MRI studies showed atrophy in the right hippocampus. She underwent resection of the right parietal lobe and hippocampus. Histopathologic examination of the right parietal lesion revealed an arteriovenous malformation marked by focally prominent vascular sclerosis, calcification and adjacent hemosiderin deposition. The hippocampus was marked by prominent neuronal loss and gliosis in the CA1 region, consistent with CA1 sclerosis or hippocampal sclerosis International League Against Epilepsy type 2. PMID:26899356

  12. MR findings of congenital anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  13. Lymphatic malformations: a proposed management algorithm.

    LENUS (Irish Health Repository)

    Oosthuizen, J C

    2012-02-01

    OBJECTIVE: The aim of this study was to develop a management algorithm for cervicofacial lymphatic malformations, based on the authors\\' experience in managing these lesions as well as current literature on the subject. STUDY DESIGN AND METHODS: A retrospective medical record review of all the patients treated for lymphatic malformations at our institution during a 10-year period (1998-2008) was performed. DATA COLLECTED: age at diagnosis, location and type of lesion, radiologic investigation performed, presenting symptoms, treatment modality used, complications and results achieved. RESULTS: 14 patients were identified. Eight (57%) male and six (43%) female. There was an equal distribution between the left and right sides. The majority (71%) of cases were diagnosed within the first year of life. The majority of lesions were located in the suprahyoid region. The predominant reason for referral was an asymptomatic mass in 7 cases (50%) followed by airway compromise (36%) and dysphagia (14%). Management options employed included: observation, OK-432 injection, surgical excision and laser therapy. In 5 cases (36%) a combination of these were used. CONCLUSION: Historically surgical excision has been the management option of choice for lymphatic malformations. However due to the morbidity and high complication rate associated this is increasingly being questioned. Recent advances in sclerotherapy e.g. OK-432 injection have also shown significant promise. Based on experience in managing these lesions as well as current literature the authors of this paper have developed an algorithm for the management of cervicofacial lymphatic malformations.

  14. Idiopathic hepatic arterial malformation: a case report

    Institute of Scientific and Technical Information of China (English)

    郑蔚巍; 周康荣; 王佩芬; 陈祖望

    2003-01-01

    @@ Hepatic arterial malformation is a rare disorder which either origi nates idiopathically or may be associated with hereditary hemorrhagic telangiect asia (also known as Osler-Weber-Rendu disease). Although previous reports presented only descriptions of sonographic and angiographic findings,1-6 we present a case of splenic infarct caused by this disorder with CT and CTA findi ngs.

  15. New concepts on posterior fossa malformations

    Energy Technology Data Exchange (ETDEWEB)

    Jaspan, Tim [Imaging Centre, University Hospital, Nottingham (United Kingdom)

    2008-06-15

    A full description of the embryology of the posterior fossa (PF) is beyond the scope of this review; several recent publications are recommended. Specific aspects of the processes involved are, however, reviewed as a background to malformations that involve defects or errors occurring at critical stages during the embryogenesis of the PF structures. (orig.)

  16. Congenital vascular malformations in scintigraphic evaluation

    International Nuclear Information System (INIS)

    Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression

  17. Genetic animal models of malformations of cortical development and epilepsy.

    Science.gov (United States)

    Wong, Michael; Roper, Steven N

    2016-02-15

    Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, heterotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis. PMID:25911067

  18. Arteriovenous Malformation Detected by Small Bowel Endoscopy

    Directory of Open Access Journals (Sweden)

    Takaaki Fujii

    2014-10-01

    Full Text Available Gastrointestinal bleeding that originates in the small intestine is often difficult to diagnose. When successful diagnosis reveals a lesion that can be localized preoperatively, the laparoscopic approach is an appropriate and beneficial treatment modality for small bowel resection. A 69-year-old man presented with a 6-month history of gastrointestinal bleeding and symptomatic transfusion-dependent anemia. Upper and lower endoscopy were normal. Double-balloon endoscopy established the source of the bleeding as a 0.5-cm polypoid mass appearing as a submucosal tumor with redness and pulsation in the lower ileum, suggesting a vascular lesion. Laparoscopic small bowel resection was successful in removing the mass in the ileum. Histological evaluation of the mass revealed an arteriovenous malformation. Preoperative small bowel endoscopy can be useful for diagnosing the cause and localization of arteriovenous malformation in the small intestine.

  19. Animal Models in Studying Cerebral Arteriovenous Malformation

    Directory of Open Access Journals (Sweden)

    Ming Xu

    2015-01-01

    Full Text Available Brain arteriovenous malformation (AVM is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected.

  20. Stereotactic linac radiosurgery for arteriovenous malformations.

    OpenAIRE

    Kenny, B G; Hitchcock, E. R.; Kitchen, G.; Dalton, A E; Yates, D A; Chavda, S V

    1992-01-01

    Stereotactic linear accelerator (linac) radiosurgery has been in operation in the West Midlands since 1987, the first of its kind in the United Kingdom. Forty two patients with high-flow cerebral arteriovenous malformations have been treated, 26 of whom have been followed up. Angiography one year after treatment showed that five lesions were obliterated, 11 were reduced in size and/or flow rate and 10 were unchanged. Overall results show that nine out of 10 patients reviewed at 24 months had ...

  1. Management of arteriovenous malformations: A surgical perspective

    Directory of Open Access Journals (Sweden)

    Nakaji Peter

    2005-01-01

    Full Text Available The management strategies for arteriovenous malformations (AVMs continue to evolve, spurred by advancing technology and improved understanding of the natural history of these lesions. In general, intervention is reserved for Spetzler-Martin Grade I-III lesions or for those with certain high-risk features. Grade IV-V AVMs, in contrast, are usually managed conservatively. Although multimodality therapy incorporating endovascular and/or radiosurgical techniques is increasingly common, microsurgical removal remains the definitive form of treatment.

  2. PULMONARY ARTERIOVENOUS MALFORMATION: STILL A SURGICAL CONSIDERATION

    Directory of Open Access Journals (Sweden)

    S. Shahidnoorai M.Rahbar

    1998-08-01

    Full Text Available Pulmonary arteriovenous malformations are rare clinical entities thai are associated with right to left shunts, and are often clinically presented by the triad of dyspnea, cyanosis, and digital clubbing. Currently, transcatheter embolization of fistula is gaining increasing popularity as the superior therapeutic option. In certain situations, however, surgery is preferred. Two cases of direct pulmonary artery ■ left atrial fistulas are described who, were treated simply by surgery with no recurrence.

  3. Cerebral Arteriovenous Malformation Associated with Moyamoya Disease

    OpenAIRE

    Noh, Jung-Hoon; Yeon, Je Young; Park, Jae-Han; Shin, Hyung Jin

    2014-01-01

    The coexistence of moyamoya disease (MMD) with an arteriovenous malformation (AVM) is exceedingly rare. We report two cases of AVM associated with MMD. The first case was an incidental AVM diagnosed simultaneously with MMD. This AVM was managed expectantly after encephalo-duro-arterio-synangiosis (EDAS) as the main feeders stemmed from the internal carotid artery, which we believed would be obliterated with the progression of MMD. However, the AVM persisted with replacement of the internal ca...

  4. Spinal arteriovenous malformations: Is surgery indicated?

    OpenAIRE

    Singh, Bikramjit; Behari, Sanjay; Jaiswal, Awadhesh K.; Sahu, Rabi Narayan; Mehrotra, Anant; Mohan, B.Madan; Rajendra v Phadke

    2016-01-01

    Purpose: To identify clinico-radiological distinguishing features in various types of spinal arteriovenous malformations (AVM) with an aim to define the role of surgical intervention. Materials and Methods: Hero's modified Di Chiro classification differentiated four types of spinal AVMs on digital subtraction angiogram (DSA) in 74 patients: I. Dural arteriovenous fistulae (n = 35, 47.3%); II. Glomus/intramedullary (n = 13, 17.6%); III. Juvenile/metameric (n = 4, 5.4%); and, IV. Ventral perime...

  5. Chiari I malformation: classification and management.

    Science.gov (United States)

    Bindal, A K; Dunsker, S B; Tew, J M

    1995-12-01

    Considerable debate exists about which surgical options are best for the management of the Chiari I malformation. We present a classification system for the Chiari I malformation that improves the prediction of outcome and guides the selection of surgical treatment. Twenty-seven adult patients with Chiari I malformations were grouped on the basis of the presence of signs and symptoms of brain stem compression, syringomyelia, or both. To objectively assess changes in clinical status postoperatively, a scale was developed to quantify the signs and symptoms, which were statistically analyzed by the paired t test. Five patients were asymptomatic and underwent no treatment. Ten patients had symptoms of brain stem compression without associated syringomyelia and underwent brain stem decompression, including anterior decompression in one patient with basilar invagination; all 10 patients had significant improvement at 4-year mean follow-up visits (P syringomyelia, 5 were symptomatic from syringomyelia only, 6 were symptomatic from both brain stem compression and syringomyelia, and 1 was symptomatic from brain stem compression only. The median length of symptoms before presentation was longer for patients with syringomyelia than for patients without (2 yr versus 9 mo; P syringomyelia, symptoms from brain stem compression dramatically improved with surgical decompression (P syringomyelia less dramatically improved or stabilized. The slight improvement or stabilization of syrinx symptoms represents a successful result, given the documented progressive nature of syringomyelia in this group. We conclude that surgical treatment for the Chiari I malformation can stabilize or slightly improve the symptoms attributed to syringomyelia and dramatically relieve the symptoms of brain stem compression. Furthermore, early diagnosis and treatment are critical in obtaining the best outcome for the patient. PMID:8584146

  6. Vascular malformations of the mandible (intraosseous haemangiomas)

    Energy Technology Data Exchange (ETDEWEB)

    Guibert-Tranier, F.; Piton, J.; Caille, J.M.; Riche, M.C.; Merland, J.J.

    1982-11-01

    Haemangiomas of the mandible are relatively rare arteriovenous malformations: 85 cases have been described since 1849. The severe risk of bleeding during tooth extraction or biopsy led us to describe the radiological and angiographic features of this condition. The afferent vessles are the inferior dental, the lingual and the facial arteries. Preoperative embolization reduces the risk of bleeding at operation. Surgical treatment must assure the complete removal of the lesion. Radiotherapy and vascular ligatures are useless and dangerous.

  7. Vascular malformations of the mandible (intraosseous haemangiomas)

    International Nuclear Information System (INIS)

    Haemangiomas of the mandible are relatively rare arteriovenous malformations: 85 cases have been described since 1849. The severe risk of bleeding during tooth extraction or biopsy led us to describe the radiological and angiographic features of this condition. The afferent vessles are the inferior dental, the lingual and the facial arteries. Preoperative embolization reduces the risk of bleeding at operation. Surgical treatment must assure the complete removal of the lesion. Radiotherapy and vascular ligatures are useless and dangerous. (orig.)

  8. Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

    Science.gov (United States)

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

    2016-01-01

    We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts. PMID:26599961

  9. Developmental malformations of the cerebral cortex

    International Nuclear Information System (INIS)

    Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25% of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T1-w and T2-w sequences in adequate slice orientation. T1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses. (orig.)

  10. Abortion, premature delivery, stillborn, and malformations

    International Nuclear Information System (INIS)

    Since A-bomb disaster in Hiroshima and Nagasaki, genetic effects of A-bomb radiation have been investigated in the offspring of A-bomb survivors. This paper outlines the results of the previous studies in the context of the historical backgrounds. An earlier survey using a cohort of 71,280 children of Hiroshima and Nagasaki A-bomb survivors and a suitable control population of non-exposed 55,870 persons have dealt with the stillborn, neonate death, 9-month-old infant death, malformations at birth and 9 months after birth, and sex ratio in F1 offspring; it was found that there was no significant difference in these items between the exposed and non-exposed groups. The other survey using fetal and neonatal autopsy cases has revealed that the incidence of malformations was significantly higher in children born to A-bomb survivors than those of the control population (18.5% vs 11.0%); however, there was no evidence of genetic abnormalities specific to the group of A-bomb survivors. Until now, no definitive conclusions of the sex ratio at birth have been drawn. Regarding height in F1 offspring, no significant difference existed between the exposed and non-exposed groups. Nor was there significant difference in malformations in F1 and F2 offspring between the group of A-bomb survivors and the suitable control group. (N.K.)

  11. Giant Arteriovenous Malformation of the Neck

    Directory of Open Access Journals (Sweden)

    P. A. Dieng

    2015-01-01

    Full Text Available Arteriovenous malformations (AVM have a wide range of clinical presentations. Operative bleeding is one of the most hazardous complications in the surgical management of high-flow vascular malformations. In the cervical region, the presence of vital vascular structures, such as the carotid artery and jugular vein, may increase this risk. This is a case of massive arteriovenous malformation deforming the neck and the face aspect of this aged lady and growing for several years. A giant mass of the left neck occupied the carotid region and the subclavian region. The AVM was developed between the carotid arteries, jugular veins, and vertebral and subclavian vessels, with arterial and venous flux. The patient underwent surgery twice for the cure of that AVM. The first step was the ligation of the external carotid. Seven days later, the excision of the mass was done. In postoperative period the patient presented a peripheral facial paralysis which completely decreased within 10 days. The first ligation of the external carotid reduces significantly the blood flow into the AVM. It permitted secondarily the complete ablation of the AVM without major bleeding even though multiple ligations were done.

  12. Rhombencephalosynapsis – isolated anomaly or complex malformation?

    International Nuclear Information System (INIS)

    Rhombencephalosynapsis (RES) is a rare malformation of the posterior cranial fossa, characterized by fusion of the cerebellar hemispheres, medial cerebellar peduncles and dentate nuclei. Over the period of 7 years 8 cases of this anomaly have been diagnosed in two pediatric centers in Warsaw including one on the prenatal magnetic resonance imaging (MRI). Material consists of involves one fetus examined at the gestational age of 27 and 33 weeks and 7 children (5 girls and 2 boys) aged 8 months – 16 years. All of them underwent brain MRI with the use of 1.5T scanners. In 1 case RES was an isolated anomaly, in 1 case it was accompanied by hydrocephalus only, in the remaining 6 cases RES was an element of a complex malformation. The additional anomalies were as follows: callosal hypoplasia in 3 children, abnormalities of gyration in 2, brainstem hypoplasia in 2, isolated fourth ventricle in 1, abnormal white matter signal intensity in 4 (in 2 cases in supratentorial compartment, in 1 in the cerebellum and in 1 in the pons), abnormally dilated extraaxial fluid collections in 2, syringohydromyelia in 2. In 5 cases RES was total, in 3 – partial. Rhombencephalosynapsis has a very characteristic appearance on magnetic resonance imaging which allows diagnosis of this malformation at any age, including prenatal period

  13. A Case of Pulsatile Tinnitus from the Atherosclerosis and Atheroma in Superior Labial Artery and Facial Artery

    Science.gov (United States)

    Kim, Jung Min; Kim, Choon Dong

    2012-01-01

    Tinnitus is one of the most common symptoms in an audiologic field. It can be classified as either as subjective or objective; former referring to the sensation heard by both patient and examiner. Pulsatile tinnitus is perceived as sounds that vary in frequency, intensity and duration. The cause of pulsatile tinnitus include high jugular bulb, benign intracranial hypertension, glomus tumors, carotid artery stenosis, vascular lesions of the temporal bone, arteriovenous malformation, aneurysms, and Arnold-Chiari malformation. Vascular tinnitus is most common (7.6%). Recently, the authors experienced one case of the pulsatile tinnitus caused by atherosclerosis and atheroma in superior labial artery & facial artery. After surgery, the symptom had disappeared. We report a unique case regarding the objective tinnitus with the literature review. PMID:24653894

  14. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.; Jensen, Allan

    2014-01-01

    registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

  15. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

  16. Aneurysmal Malformation of Galen Vein: A Case Report

    OpenAIRE

    A. Alizadeh; Sh. Yousefzadeh

    2008-01-01

    Introduction: Vein of Galen aneurismal malformation (VGAM) is a rare congenital vascular malformation Characterized by shunting of arterial flow into en-larged cerebral vein, dorsal to the tectum that consti-tute approximately 1% of all intracranial vascular le-sions, however they represent 30% of vascular mal-formations in the pediatric groups."nCase Presentation: A Ten-month old male infant pre-sented to the pediatric physician by increase in the head circumference. There were no sympt...

  17. Cranial CT signs of the Chiari II malformation

    International Nuclear Information System (INIS)

    Serial CT scans of 32 patients with proved Chiari II malformations and 19 patients with hydrocephalus and meningomyelocele (presumed to have Chiari II malformation) were reviewed and compared with CT scans from 30 patients with non-chiari aqueductal stenosis to develop criteria for identifying the Chiari II malformation and for differentiating it from other forms of hydrocephalus. Correlation with post-mortem specimens of Chiari II brains provided a pathologic basis for the CT signs observed. (orig.)

  18. A systematic approach to posterior fossa malformations

    International Nuclear Information System (INIS)

    Full text: Embryology of the cerebellum and classification of posterior fossa malformations: At the 28th-37th gestational day, the thin roof of the hindbrain (future fourth ventricle) is formed by an ependymal membrane coated by pia mater. The plica choroidea, a precursor of the future choroid plexus, divides the roof of the fourth ventricle into the anterior membranous area (AMA) lying cephalad, and the posterior membranous area (PMA) lying caudad. The cerebellum arises from dorsal rhombomere 1 of the anterior hindbrain, in a position along the anterior/posterior axis of the neural tube that is determined by genes expressing in the isthmic organizer at the mid-hindbrain junction, and is also influenced by genetic cues from the roof plate of the adjacent fourth ventricle. Studies in mice have shown that during early embryogenesis, the dorsal rhombomere 1 rotates to establish the mediolaterally-oriented bilateral cerebellar primordial, which are interposed by the AMA. As neurogenesis progresses, the bilateral primordia fuse on the dorsal midline over the fourth ventricle to establish the medial vermis and lateral cerebellar hemispheres, while the intervening AMA progressively involutes until its remnants are incorporated in the choroid plexus. Meanwhile, the PMA shows a transient posterior finger-like expansion, the Blake’s pouch, which extends below the vermis and eventually disappears as the foramen of Magendie opens. Cerebellar neurons are generated from two anatomically and molecularly distinct progenitor zones within the cerebellar primordium: the cerebellar ventricular zone (vZ), and the dorsally located rhombic lip (Rl). Newly differentiating neurons from the vZ, including cerebellar Purkinje cells, are postmitotic, and leave the vZ to migrate radially within the developing cerebellum; instead, cells exiting the Rl migrate over the primordium forming the external granule layer (eGl), where they proliferate and then migrate inward to form the internal

  19. Anaesthetic management of a child with massive extracranial arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Faisal Shamim

    2012-01-01

    Full Text Available Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.

  20. Congenital malformations in twins in England and Wales.

    OpenAIRE

    Doyle, P E; Beral, V.; Botting, B; Wale, C J

    1991-01-01

    STUDY OBJECTIVE--The aim was to compare congenital malformation rates in twin births with those in singleton births. DESIGN--The study was an analysis of malformation rates in singleton and twin births using data from the Office of Population Censuses and Survey's Congenital Malformation Notification Scheme. SETTING--This was a national survey of births in England and Wales in 1979-1980 and 1982-1985. PARTICIPANTS--The data comprised 95,510 reported malformations in 3.7 million singleton birt...

  1. Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

    Science.gov (United States)

    Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-07-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

  2. Spinal arteriovenous malformation: A case report

    International Nuclear Information System (INIS)

    Spinal arteriovenous malformation (AVM) is abnormal connections between arteries and veins, without intervening capillaries, located in the spinal cord and/or its leptomeninges. There are two main types spinal of AVM; d ural AV fistulas, in which the nidus of the AV fistula is imbeded in the dural covering of the nerve root, and intradural AVMs, in which the nidus of the AVM is within the cord tissue or the pia. The intradural AVMs are further subclassified into juvenile AVMs, glomus AVMs, and direct AV fistulas. The authors report a case of spinal AVM, intradural and glomus type, confirmed by operation in 17 years old male patient

  3. CEREBRAL ARTERIOVENOUS MALFORMATIONS IN CHILDREN. ENDOVASCULAR TREATMENT

    OpenAIRE

    Scheglov, D.; Zagorodniy, V.

    2013-01-01

    The objective — to learn the features of the cerebral arteriovenous malformations (АVМ) endovascular treatment in children. Materials and methods. Totally 39 children with cerebral AVMs were treated at the center from 2005 to 2012. The average age of the patients (12.6 ± 1.2) years. It was found that the most of AVMs were occurred in temporoparietal subcortical area — 46.2 % cases. Results. Small size of AVMs were detected in 15.4 % of patients, the middle — in 33.3 %, the large — in 38.5 %, ...

  4. Radiotherapy for Small Cerebral Arteriovenous Malformation

    OpenAIRE

    Yamashita, Tetsuo; Kurokawa, Yasushi; Kashiwagi, Shiro; Abiko, Seisho; Shiroyama, Yujiro; Kamiryo, Toshifumi; Nakano, Shigeki; Eguchi, Yuuki; Tsurutani, Toru; Ito, Haruhide

    1991-01-01

    The result of two types of radiation therapy for small cerebral arteriovenous malformations (AVM) were analyzed, and the indications and limitations of radiation therapy for small AVMs discussed. Four patients with small AVMs received radiation therapy. There were three males and one female, ranging in age from 7 to 44 years with an average of 29 years. One cerebral AVM was located in the right thalamus, two were in the left central sulcus and one was in the left parietal lobe. Three AVMs wer...

  5. CT of anorectal malformation - a postoperative evaluation

    International Nuclear Information System (INIS)

    In spite of the progress in the field of surgical treatment of anorectal malformations, faecal incontinence is, in variable degrees, still an unpleasant and frequent postoperative sequela. Postoperative CT demonstrate the location of the pulled-through intestine, including whether it had been correctly placed through the levator ani and in the spincteric muscular complex. In our nine patients we discovered a correlation between the CT findings and the clinical picture. The cases of incontinence whether associated with sacral anomalies or not were characterized either by marked hypoplasia of musculature or by the pull-through having missed the sphincteric musculature. CT scans could be of use in planning further surgery. (orig.)

  6. Oral vascular malformations: laser treatment and management

    Science.gov (United States)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  7. Imaging features of communicating bronchopulmonary foregut malformation

    International Nuclear Information System (INIS)

    Objective: To summarize the upper gastrointestinal (UGI) series and CT features of communicating bronchopulmonary foregut malformation (CBPFM) and to improve the ability for the diagnosis. Methods: Three cases of CBPFM proved by surgery and pathology were reviewed retrospectively. All the cases performed the UGI series, plain and contrast enhanced CT scan. Results: The UGI series showed abnormal fistulous tracts arising from the esophagus and extending into the mass in the lung in 2 cases, arising from the gastric fundus and extending into the right hemithorax in 1 case. CT demonstrated solid masses in the para-spinal region of the lower lobe in all cases, among them, 1 case showed agenesis of the right lung. Contrast enhanced CT scan showed pulmonary arterial blood supply in 2 cases, systemic blood supply originate from the celiac trunk in 1 case, pulmonary vein drainage in all cases. Reconstruction showed aberrant tracts arise from the esophagus in 2 case, from the gastric fundus in 1 case. Conclusion: CBPFM have various appearance. UGI series can demonstrate the abnormal tract directly, CT can evaluate the lung, the abnormal artery and vein, the communication with the gastrointestinal tract and the associated malformation, so it is the optimal method for the diagnosis of CBPFM. (authors)

  8. Twin pregnancy in the congenital malformed uterus.

    Science.gov (United States)

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity. PMID:26757792

  9. Vascular permeability in cerebral cavernous malformations

    DEFF Research Database (Denmark)

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao;

    2015-01-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observ......Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case......-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability...... correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive...

  10. Endovascular embolization for spinal cord vascular malformation

    International Nuclear Information System (INIS)

    Objective: To evaluate the efficacy of endovascular embolization for the treatment of spinal cord vascular malformation (SCVM). Methods: During the past ten years endovascular embolization was performed in 32 consecutive patients with SCVM, including 19 males and 13 females with a mean age of 47.2 years. The clinical data were retrospectively analyzed. The patients were followed up for 10 months to 6 years. The clinical efficacy was evaluated and the results were graded as full recovery, improvement, unchanged and aggravation. Results: The SCVMs in our series included spinal dural arteriovenous fistula (SDAVF, n = 16), perimedullary arteriovenous fistula (PMAVF, n = 9) and spinal arteriovenous malformation(SAVM, n = 7). Complete embolization was achieved in 20 cases and partial embolization in 12 cases, among them pure arterial aneurysm or venous aneurysm was occluded in 4. During an average follow-up period of 48 months, complete recovery was seen in 5 cases, marked improvement in 16 cases, unchanged condition in 8 cases and clinical aggravation in 3 cases. Recurrence was observed in 2 of the improved cases. No bleeding or re-bleeding occurred. Conclusion: Endovascular embolization is an effective and minimally-invasive treatment for SCVM with fewer complications. (J Intervent Radiol, 2010, 19: 933-935) (authors)

  11. Imaging of cardiovascular malformations in Williams syndrome

    International Nuclear Information System (INIS)

    Objective: To evaluate the imaging methods for cardiovascular malformations in Williams syndrome(WS). Methods: Thirteen cases of WS (7 males and 6 females) aged 10 months to 13 years were involved in this study. All patients underwent chest X-ray radiography, electrocardiography, echocardiography and physical examination. 3 cases underwent electronic beam computed tomography (EBCT), cardiac catheterization and angiography were performed in 8 cases. Results: Twelve patients were referred to our hospital for cardiac murmur and 1 case for cyanosis after birth. 7 patients were found with 'elfin-like' facial features, 6 patients with pulmonary arterial stenosis, 2 cases with patent ductus arteriosus, 2 cases with severe pulmonary hypertension and 1 case with total endocardial cushion defect. Sudden death occurred in 2 patients during and after catheterization, respectively. Conclusions: Conventional angiography is the golden standard for the diagnosis of cardiovascular malformations in WS. Noninvasive methods such as MSCT and MRI should be suggested because of the risk of sudden death in conventional angiography. (authors)

  12. Valproic acid monotherapy in pregnancy and major congenital malformations

    DEFF Research Database (Denmark)

    Jentink, Janneke; Loane, Maria A; Dolk, Helen;

    2010-01-01

    The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

  13. Urogenital tract anomalies in children with congenital anorectal malformation

    NARCIS (Netherlands)

    J.W. Hoekstra

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find an e

  14. Congenital Malformation Prevalence in Cluj District between 2003-2007

    Directory of Open Access Journals (Sweden)

    Ştefan I. ŢIGAN

    2009-12-01

    Full Text Available Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations is increasing and varies upon geographic features, race and gender. Perinatal mortality is generated in 66.66% of cases by congenital malformations, illnesses from perinatal period and the rest of them is generated by the birth. Material and Method: The study was retrospective and was carried on for a period of five years (2003-2007 based on medical records and on laboratory results, (especially those for TORCH screening: toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Results: Major structural anomalies were present at 39.51% (388 cases of 982 patients which were registered in Genetic Pathology Center from Pediatric Clinics I, Cluj-Napoca. Diagnosed abnormalities included: congenital malformations of circulatory, respiratory, digestive, central nervous system, congenital malformations of skeletal system, Down syndrome, which is consistent with results of other studies showing that the most common are heart abnormalities (33.06%, followed in descending order of frequency by urinary, genital, CNS, skin, oral-facial cleft and digestive anomalies. Conclusions: Early detection of major malformation during early pregnancy can indicate for medical termination of pregnancy to reduce the high morbidity and mortality of neonates due to congenital malformations. So proper and timely counselling, regular antenatal care with folate supplementation especially during the most sensitive period of embryogenesis is essential to avoid major congenital malformation for future pregnancy.

  15. Abernethy malformation with portal vein aneurysm in a child

    Directory of Open Access Journals (Sweden)

    Sheragaru H Chandrashekhara

    2011-01-01

    Full Text Available Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. We describe multidetector computed tomography findings of an incidentally detected Abernethy malformation with portal vein aneurysm in a two-and-half-year old child. The computed tomography scan was performed for the evaluation of respiratory distress, poor growth, and loss of appetite.

  16. Congenital cardiac malformations in congenital hypothyroid patients in Isfahan

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Sabri

    2006-11-01

    Full Text Available BACKGROUND: Congenital hypothyroidism (CH often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfahan. METHODS: In this cross-sectional study, cardiac malformations were determined in CH patients were compared to controls using echocardiography. The association between cardiac malformations and mean T4 and TSH concentrations, etiology of CH according to radiologic findings and permanent and transient CH were studied in CH patients. RESULTS: Overall, 96 and 59 subjects were included in the case and control groups, respectively. Cardiac malformations were present in 30.2% (n = 29 and 15.2% (n = 9 of case and control groups, respectively; i.e. a higher prevalence in CH patients than in controls (P = 0.03. The prevalence of cardiac malformations without patent foramen oval was 6.25% (n = 6 in CH patients and 1.7% (n = 1 in control group (P = 0.1. There was no significant association between the presence of cardiac malformations and the aforementioned variables. CONCLUSIONS: High prevalence of cardiac malformations in CH patients strongly suggests the potential involvement of genetic factors in the pathogenesis of CH. This emphasizes on the necessity of genetic studies involving CH patients. KEY WORDS: Congenital hypothyroidism, cardiac malformations, genetics.

  17. Pelvic arteriovenous malformation: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jong Min; Huh, Jin Do; Joh, Young Duk [Kosin Meidcal College, Busan (Korea, Republic of)

    1995-10-15

    Arteriovenous malformation (AVM) of female pelvic organ is a rare disease of unknown cause. The authors report a case of pelvic AVM which was incidentally found during US examination of the patient with choriocarcinoma after chemotherapy. The real-time sonography revealed several cystic lesions around the uterus with adjacent dilated tortuous vessels. The color Doppler sonography depicted abundant blood flow mixed with red and blue colors within the cystic lesions and rapid turbulent systolic and diastolic flows. CT showed well-enhancing round vascular lesions with elongated vessels in the pelvis, and MRI depicted signal-void cystic lesions on both T1 and T2 weighted images with small portions of high intensity with the lesions on T2 weighted image. The angiography revealed pelvic AVM fed by tortuous uterine and vaginal arteries with a dilated draining vein.

  18. Angiographically occult arteriovenous malformations causing intracerebral hemorrhage

    International Nuclear Information System (INIS)

    We had experienced 5 cases of angiographically occult AVMs led to intracerebral hemorrhage and progressive neurologic deficit and seizure. Cerebral angiography in each case failed to demonstrate the vascular nature of the lesion and conventional skull radiography was no use. Computed tomography (CT), in 4 cases out of 5, showed well demarcated, slightly hyperdense and ovoid masses which turned out resolving hematomas. These lesions had also contained focal areas of high densities. In one case we observed definitively enhanced area in the resolving hematoma and it was corresponded to histopathologically proved AVM. CT appearance of acute hemorrhage at the subcortical region of cerebral hemisphere was showed in another case. We believe that CT can afford important supplementary information regarding an associated hematoma for angiographically occult AVM. Caution is advised in assuming that angiographically avascular lesion demonstrable by CT is not vascular malformation.

  19. Management of patients with brain arteriovenous malformations

    International Nuclear Information System (INIS)

    Arteriovenous malformations (AVMs) of the brain, which are probably genetically determined, are errors in the development of the vasculature that, together with the effects of blood flow, may lead to a focal arteriovenous shunt. Clinically, the adult patient may present with acute or chronic neurological symptoms--fixed or unstable--such as deficits, seizures or headache. Sometimes the lesion is an incidental finding. In about half of the patients, the revealing event is an intracranial haemorrhage. The prevalence of AVM in the western world is probably 10 ml could benefit from targeted partial embolisation followed by radiosurgery or surgery, depending on the angioarchitecture; and (IV) AVMs >20 ml nidus volume usually have a high treatment risk with any treatment modality and are not obvious targets for treatment at all

  20. Pulmonary arteriovenous malformations and their mimics

    International Nuclear Information System (INIS)

    Pulmonary arteriovenous malformations (PAVMs) are abnormal communications between the pulmonary arteries and veins, which result in a right-to-left (R–L) shunt with resultant hypoxemia, the severity of which will depend upon the size and number of lesions. Most PAVMs occur in individuals with hereditary haemorrhagic telangiectasia (HHT) and are a cause of serious morbidity and mortality largely related to cerebrovascular complications secondary to paradoxical embolization. The importance of their recognition and treatment by embolization, even in the absence of symptoms, is well known. Their appearances on chest radiographs are often, but not always, characteristic and the CT appearances are diagnostic; however, there are a number of both vascular and non-vascular diseases that can cause confusion. This review serves to highlight these PAVM “mimics”

  1. Multimodality imaging of pancreatic arteriovenous malformation.

    Science.gov (United States)

    Hansen, Wendy; Maximin, Suresh; Shriki, Jabi E; Bhargava, Puneet

    2015-01-01

    Arteriovenous malformation of the pancreas (PAVM) is a very rare entity, although it may be increasingly diagnosed with the expanding use of cross-sectional imaging of the abdomen. PAVM is characterized by a network of tangled vasculature within and surrounding all or part of the pancreas, resulting in the shunting of the arteries of the pancreas directly into the portal venous system. Here, we present a patient with chronic abdominal pain and pancreatitis found to have PAVM, based on the findings of computed tomography, magnetic resonance imaging, endoscopic retrograde cholangiopancreatography, and angiography. Differential considerations are discussed. Although PAVM is uncommon, it should be considered in the differential of patients with recurrent abdominal pain or gastrointestinal bleeding. PMID:25262988

  2. [Rhythm disorders and cardiac crypto-malformations].

    Science.gov (United States)

    Davy, J M; Raczka, F; Cung, T T; Combes, N; Bortone, A; Gaty, D

    2005-12-01

    Faced with a cardiac arrhythmia occuring in an apparently healthy heart, it is necessary to perform an anatomical investigation to detect any unsuspected anomalies. Congenital cardiopathy must certainly be excluded, as this is often responsible for rhythm disorders and/or cardiac conduction defects. Similarly, any acquired conditions, cardiomyopathy, or cardiac tumour must be sought. However, the possibility should always be considered of a minimal congenital malformation, which could be repsonsible for: any type of cardiac arrhythmia: rhythm disorder or conduction defect at the atrial, junctional or ventricular level, with a benign or serious prognosis. Unexpected therapeutic difficulties during radiofrequency ablation procedures or at implantation of pacemakers or defibrillators. Together with rhythm studies, the investigation of choice is high quality imaging, either the classic left or right angiography or the more modern cardiac CT or intracardiac mapping. PMID:16433240

  3. Neurogenic dysphagia resulting from Chiari malformations.

    Science.gov (United States)

    Pollack, I F; Pang, D; Kocoshis, S; Putnam, P

    1992-05-01

    Between 1980 and 1989, 15 of 46 patients (11 children, 4 adults) who underwent suboccipital craniectomy and cervical laminectomy for symptomatic Chiari malformations presented with manifestations of neurogenic dysphagia. Each of these patients had normal swallowing function before the development of dysphagic symptoms. Dysphagia was progressive in all 15 and, in most cases, preceded the onset of other severe brain stem signs. The rate of symptom progression varied depending on the age of the patient. Whereas the six infants (all Chiari II) deteriorated rapidly after the onset of initial symptoms, the five older children (two Chiari I, three Chiari II) and four adults (all Chiari I) showed a more gradual deterioration. In 11 patients with severe dysphagia, barium video esophagograms, pharyngoesophageal motility studies, continuous esophageal pH monitoring, and appropriate scintigraphic studies were useful in defining the scope of the swallowing impairment and determining whether perioperative nasogastric or gastrostomy feedings, gastric fundoplication, and/or tracheostomy were needed to maintain adequate nutrition and avoid aspiration. These patients all had widespread dysfunction of the swallowing mechanism, with a combination of diffuse pharyngoesophageal dysmotility, cricopharyngeal achalasia, nasal regurgitation, tracheal aspiration, and gastroesophageal reflux. The pathophysiology of these swallowing impairments and their relation to the hindbrain malformation is discussed. Postoperative outcome with regard to swallowing function correlated with the severity of preoperative symptoms. The four patients with mild dysphagia showed rapid improvement in swallowing function after surgery. Seven patients with more severe impairment but without other signs of severe brain stem compromise, such as central apnea or complete bilateral vocal cord paralysis, also improved, albeit more slowly. In contrast, the outcome in the four patients who developed other signs of severe

  4. Pulmonary arteriovenous malformations: overview and transcatheter embolotherapy

    International Nuclear Information System (INIS)

    The majority of pulmonary arteriovenous malformations (pAVMs) are found in people with hereditary hemorrhagic telangiectasia (HHT), a condition also known as Osler-Weber-Rendu syndrome. HHT is a clinically heterogeneous autosomal dominant disorder in which abnormal blood vessels cause bleeding and arteriovenous shunting. The 2 basic lesions of HHT - telangiectasias and arteriovenous malformations (AVMs) - are closely related. Multisystem involvement leads to a staggering array of clinical manifestations, making HHT one of medicine's less familiar 'great pretenders'. Telangiectasias are dilated blood vessels, typically located in mucocutaneous surfaces (i.e., skin, conjunctiva, respiratory tract, gastrointestinal tract, urinary tract). Small telangiectasias are simply dilated post-capillary venules, whereas larger telangiectasias are made up of dilated arterioles and venules, often with no intervening capillary. They are, in essence, diminutive AVMs. These tiny lesions are visible as punctate bright red spots on skin and mucosal surfaces (Fig. 1). Their fragility and superficial location account for the disabling epistaxis and chronic gastrointestinal bleeding, which are so common with HHT. Hematuria (caused by urothelial telangiectasias) occurs occasionally but is not a prominent feature of the disease. Although tracheobronchial telangiectasias do occur and may cause hemoptysis, severe hemoptysis is typically related to pAVM rupture. AVMs are direct artery-to-vein connections. Though larger and far more impressive radiologically than telangiectasias, AVMs are more likely to be clinically silent until they either declare themselves in a catastrophic fashion or are detected by screening tests. In contrast to telangiectasias, which are generally found in epithelial surfaces, AVMs tend to develop within organs, most commonly the lung and brain. As screening methods evolve, liver involvement with both telangiectasias and complex AVMs is being recognized with increasing

  5. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Bengt Källén

    2014-01-01

    Full Text Available Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs or risk ratios (RRs after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23 259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1 567 736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14. For anal atresia the RR was 1.85 (95% CI 1.00–1.85 and for choanal atresia 3.14 (95% CI 1.26–6.47. The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible.

  6. HISTOLOGICAL STUDY OF NEONATAL BOWEL IN ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Amrish Tiwari

    2014-06-01

    Full Text Available Anorectal malformations are the congenital condition, seen in approximately 1 in 5000 live births. It affects male and female in the ratio of 1.3:1. Anorectal malformations include a wide range of malformations, that not only involves the anus and rectum, but it also involves urinary and genital tract. Aims and objectives of the study, was to understand the structures involved in anorectal malformations by histological study of surgically excised segments of involved part of neonatal intestine and to understand the degree and cause of possible structural impairment in different segments of involved parts of neonatal bowel that may help in the surgical management of anorectal malformations. Present study was conducted on surgically excised segments of fifteen cases of anorectal malformations, that have been collected from Department of Paediatrics Surgery, IMS, BHU. After that processing of the samples have been done and blocks have been prepared. Then after sectioning and staining with Hematoxyline and Eosin, findings have been noted under the microscope. Histopathological examination revealed the abnormalities of varying degrees. To conclude this study supports that the malformed segments should be excised, regarding controversial issue of preserving or excising the distal segment of anorectum for better functional outcome.

  7. Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

    Science.gov (United States)

    Berger, S; Ziebell, P; OFFsler, M; Hofmann-von Kap-herr, S

    1998-09-01

    A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a persisting urachus were also found. Extra-abdominal malformations such as Down's syndrome, congenital diaphragmatic hernia, aortic stenosis, and malformations of vertebral bodies were seen. Twin siblings of children with IND were either healthy (n=3) or died in utero (n=1). Seventeen children with IND developed severe intra-abdominal complications during the perinatal period such as necrotizing enterocolitis (NEC), meconium ileus, or bowel perforations. NEC was frequently associated with preterm birth. Bowel perforations were seen in mature and preterm newborns with IND. Taken together, IND is found in a variety of obstructive bowel diseases. This may support the hypothesis that IND is a secondary phenomenon or that congenital atresias and stenoses of the digestive tract have a pathogenesis similar to that of intestinal innervation disturbances. IND may also be a part of complex malformation patterns since it occurs with a number of extraintestinal and non-obstructive intestinal malformations. PMID:9716673

  8. Progressive pituitary hyperplasia over the course of 2 years demonstrated on magnetic resonance imaging in a patient with long standing, profound primary hypothyroidism

    Directory of Open Access Journals (Sweden)

    Kathryn J. Stephens

    2013-02-01

    Full Text Available Pituitary hyperplasia secondary to primary hypothyroidism and subsequent regression following thyroid replacement has been well described. We report a 12 year-old male who was retrospectively found to have progressive pituitary hyperplasia over the course of 2 years prior to his diagnosis of primary hypothyroidism, as documented on annual brain magnetic resonance imaging (MRI for Arnold Chiari Type 1 malformation. He presented to Endocrinology with a 2-year history of fatigue, worsening daily headaches and linear growth deceleration. The diagnosis of primary hypothyroidism as the cause for his pituitary hyperplasia was made. He was started on levothyroxine with subsequent regression of pituitary hyperplasia demonstrated on repeat brain MRI six months later. This case is the first that demonstrates progressive pituitary hyperplasia from early in the course to diagnosis of hypothyroidism. It also illustrates that pituitary hyperplasia noted on routine brain MRI can be a presenting sign of primary hypothyroidism that should prompt endocrinologic evaluation.

  9. Urgent decisions and a tight spot: embolic infarction of a herniated cerebellar tonsil.

    Science.gov (United States)

    Mc Donagh, Ruth; Bradley, David; Harbison, Joseph Augustine

    2016-01-01

    A previously well 30-year-old woman presented at 17:30 with a sudden onset of dizziness, ataxia and headache. She was initially investigated with a CT scan of the brain and lumbar puncture, which yielded no diagnosis. Subsequent MR scan revealed multiple posterior circulation infarcts, along with a previously undiagnosed Arnold-Chiari 2 malformation with an associated syrinx of her cervical and thoracic spine. The infarct involved one of the herniated cerebellar tonsils. Oedema of an infarct in the herniated tonsils caused compression of the medulla at the foramen magnum, with associated neurological symptoms including Lhermitte's phenomenon and headache on valsalva manoeuvre. Owing to these symptoms a surgical decompression was performed. The most likely aetiology of her stroke was determined to be a paradoxical embolus via patent foramen ovale. PMID:27489065

  10. Fetal magnetic resonance imaging of thoracic and abdominal malformations

    International Nuclear Information System (INIS)

    Diagnosis and differential diagnosis of fetal thoracic and abdominal malformations. Ultrasound and magnetic resonance imaging (MRI). In cases of suspected pathologies based on fetal ultrasound MRI can be used for more detailed examinations and can be of assistance in the differential diagnostic process. Improved imaging of anatomical structures and of the composition of different tissues by the use of different MRI sequences. Fetal MRI has become a part of clinical routine in thoracic and abdominal malformations and is the basis for scientific research in this field. In cases of thoracic or abdominal malformations fetal MRI provides important information additional to ultrasound to improve diagnostic accuracy, prognostic evaluation and surgical planning. (orig.)

  11. Role of sodium tetradecyl sulfate in venous malformations

    Directory of Open Access Journals (Sweden)

    Saraf Sanjay

    2006-01-01

    Full Text Available Venous malformations are one of the commonest anomalies of the vascular tree and their management has always remained a major challenge. Surgery and other treatment modalities are not always satisfactory and have a higher morbidity, recurrence and complication rate. The author retrospectively analyzed 40 patients of venous malformations who underwent sclerotherapy with sodium tetradecyl sulfate solely or as an adjunct to surgery. The purpose of the study was to evaluate the efficacy and safety of sodium tetradecyl sulfate sclerotherapy in the treatment of venous malformations.

  12. Spine and spinal cord vascular malformations: pictorial essay

    International Nuclear Information System (INIS)

    Spine and spinal cord vascular malformations are an uncommon cause of acute, subacute, episodic or progressive myelopathy. They affect all age groups and constitute important clinical entities because of the high morbidity and even mortality associated with them if they are left untreated. These malformations are classified according to their anatomic location and angioarchitecture (Table 1). Today, magnetic resonance imaging (MRI) is the initial radiologic screening procedure of choice for acute or progressive myelopathy. This pictorial essay reviews the radiologic work-up and the imaging features of spinal vascular malformations, as well as the clinical presentation, the probable pathophysiology and the different treatment modalities. (author)

  13. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

    Science.gov (United States)

    Macmurdo, Colleen F; Wooderchak-Donahue, Whitney; Bayrak-Toydemir, Pinar; Le, Jenny; Wallenstein, Matthew B; Milla, Carlos; Teng, Joyce M C; Bernstein, Jonathan A; Stevenson, David A

    2016-06-01

    Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. CM-AVM syndrome is characterized by multi-focal capillary malformations and arteriovenous malformations. Lymphatic anomalies have been proposed as part of the phenotype. Intrafamilial variability has been reported, suggesting modifiers and somatic events. The objective of the study was to identify somatic RASA1 "second hits" from vascular malformations associated with CM-AVM syndrome, and describe phenotypic variability. Participants were examined and phenotyped. Genomic DNA was extracted from peripheral blood on all participants. Whole-exome sequencing was performed on the proband. Using Sanger sequencing, RASA1 exon 8 was PCR-amplified to track the c.1248T>G, p.Tyr416X germline variant through the family. A skin biopsy of a capillary malformation from the proband's mother was also obtained, and next-generation sequencing was performed on DNA from the affected tissue. A familial germline heterozygous novel pathogenic RASA1 variant, c.1248T>G (p.Tyr416X), was identified in the proband and her mother. The proband had capillary malformations, chylothorax, lymphedema, and overgrowth, while her affected mother had only isolated capillary malformations. Sequence analysis of DNA extracted from a skin biopsy of a capillary malformation of the affected mother showed a second RASA1 somatic mutation (c.2245C>T, p.Arg749X). These results and the extreme variable expressivity support the hypothesis that somatic "second hits" are required for the development of vascular anomalies associated with CM-AVM syndrome. In addition, the phenotypes of the affected individuals further clarify that lymphatic manifestations are also part of the phenotypic spectrum of RASA1-related disorders. © 2016 Wiley Periodicals, Inc. PMID:26969842

  14. Obstetric outcomes in women with mullerian duct malformations

    Directory of Open Access Journals (Sweden)

    Padmasri Ramalingappa

    2014-02-01

    Conclusions: Women with congenital uterine malformation usually have higher incidence of complications during pregnancy and delivery. Early diagnosis and treatment can improve obstetric outcomes. [Int J Reprod Contracept Obstet Gynecol 2014; 3(1.000: 127-133

  15. Contracted foal syndrome associated with multiple malformations in two foals.

    Science.gov (United States)

    Binanti, D; Zani, D D; De Zani, D; Turci, T; Zavaglia, G; Riccaboni, P

    2014-02-01

    Congenital anomalies in horses are very rare, and contracted foal syndrome is one of the most commonly reported. This malformation is characterized by contraction of the joints of the forelimbs and/or hindlimbs. In addition, the syndrome can be characterized by vertebral column malformations, such as scoliosis or torticollis, and cranial deformity. The present report describes the radiological and necroscopical findings of multiple rare malformations in two foals. Both foals showed skeletal abnormalities and fenestration of the abdominal cavity. Other pathological findings include a interventricular septal defect in one and a unilateral hydronephrosis and partial hydroureter in the other foal. Although in this report a specific aetiology could not be provided, insecticides treatment provided during the second month of pregnancy might play a role in the pathogenesis of these malformations. PMID:23406278

  16. Coldwater NWR Malformed Frog Survey Data 2008-2010

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Data set contains information concerning surveys for malformed frog collections on Coldwater NWR and the Harris Tract, in MS from 20082010. Data were collected as...

  17. Dahomey NWR Malformed Frog Survey Data 2003-2004

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Data set contains information concerning surveys for malformed frog collections on Dahomey NWR in MS from 20032004. Data were collected as part of the national...

  18. Posterior fossa malformations: main features and limits in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

    2010-06-15

    Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

  19. Epidermal Nevus Syndrome Associated with Brain Malformations and Medulloblastoma

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-01-01

    Full Text Available Researchers at Juntendo University and Tokyo Women’s Medical University, Japan; and University of California, San Francisco, Ca, report a male infant with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

  20. Obstetric outcomes in women with mullerian duct malformations

    OpenAIRE

    Padmasri Ramalingappa; Urvashi Bhatara; Jayashree Seeri; Priyadarshini Bolarigowda

    2014-01-01

    Background: Congenital uterine anomalies are associated with the highest incidence of reproductive failure and obstetric complications. This study aims to summarize the clinical characteristics and prenatal outcome of pregnancy in women with congenital uterine malformations. Methods: This retrospective study evaluates the obstetric outcome of 24 in patients with uterine malformations with pregnancy in Sapthagiri Hospital from August 2010 to August 2013. A total of 60 randomly selected preg...

  1. Treatment of venous malformations (VM): The cutting edge knowledge

    Institute of Scientific and Technical Information of China (English)

    Laurence M. Boon

    2005-01-01

    Venous malformations (VMs) are problematic common vascular malformations that are challenging even for experienced physicians. Several treatments are available including sclerotherapy, surgery, laser or combinations of these procedures. As none of these is specific, we still need therapies that would allow to cure these patients without complications. Hopefully, the unraveling of the causative defects of VMs will give us new tools for the management of this difficult condition.

  2. RECTAL DUPLICATION CYST IN PREVIOUS ANORECTAL MALFORMATION AND DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    A. Burgio

    2012-12-01

    Full Text Available Gastrointestinal (GI tract duplications are rare congenital malformations. Most of them occur in the ileum and only 1-5%, of all duplication, were in the rectum. Different clinical features including chronic constipation, rectal prolapsed or polips. We report on a 4-years-old girl with Down syndrome and anorectal malformation (ARM who was found to have a rectal duplication cyst.

  3. Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension

    Science.gov (United States)

    Sharma, Arun; Gulati, Gurpreet S; Parakh, Neeraj; Aggarwal, Abhinav

    2016-01-01

    Chronic thromboembolic pulmonary hypertension is a morbid condition associated with complications such as hemoptysis, right heart failure, paradoxical embolism, and even death. There is no known association of chronic thromboembolic pulmonary hypertension with pulmonary arteriovenous malformation. Possible hypothesis for this association is an increased pulmonary vascular resistance leading to the compensatory formation of pulmonary arteriovenous malformation. We present one such case presenting with hemoptysis that was managed with endovascular treatment.

  4. Oral encapsulated vascular malformation: An undescribed presentation in the mouth

    Science.gov (United States)

    Dias, Márcio-Américo; Dias, Pedro-de Souza; Martínez-Martínez, Marisol; Sena-Filho, Marcondes; de Almeida, Oslei-Paes

    2016-01-01

    Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity. PMID:26855712

  5. Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation.

    OpenAIRE

    Torra, R.; Alós, L.; Ramos, J.; Estivill, X

    1996-01-01

    We report two brothers with a cystic malformation of the kidneys, liver, and pancreas. In both cases the malformation was fatal and the children died shortly after birth. The pathological findings, consisting of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, dilated pancreatic ducts, and polysplenia, correspond to those reported by Ivemark as renal-hepatic-pancreatic dysplasia. Many polymalformation syndromes include cystic affectation of these three organs, so this syndro...

  6. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

    OpenAIRE

    Akers, Amy L.; Ball, Karen L.; Clancy, Marianne; Comi, Anne M.; Faughnan, Marie E.; Gopal-Srivastava, Rashmi; Jacobs, Thomas P.; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A.; Charles E McCulloch; Morrison, Leslie; Moses, Marsha; Moy, Claudia S.; Pawlikowska, Ludmilla

    2013-01-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in “research silos” with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, i...

  7. Loop Modeling Forward and Feedback Analysis in Cerebral Arteriovenous Malformation

    OpenAIRE

    Y. Kiran Kumar; Shashi.B.Mehta; Manjunath Ramachandra

    2013-01-01

    Cerebral Arteriovenous Malformation (CAVM) hemodynamic in disease condition results changes in the flow and pressure level in blood vessels. Cerebral Arteriovenous Malformation (CAVM) is an abnormal shunting of vessels between arteries and veins. It is one of the common Brain disorder. In general, the blood flows of cerebral region are from arteries to veins through capillary bed. This paper is focus on the creation of a new electrical model for spiral loop structures that will simulate the p...

  8. Echography of congenital malformations of the central nervous system

    International Nuclear Information System (INIS)

    A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most frequent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid

  9. Antidepressant exposure during early pregnancy and congenital malformations

    DEFF Research Database (Denmark)

    Pedersen, Lars Henning

    reassuring, however, an association with heart malformations has been suggested for e.g. paroxetine. A potential biological explanation will be reviewed. The potential teratogenic potential of antidepressants needs to be balanced against the obvious problems associated with under-treated maternal depression......Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss the...

  10. Urogenital tract anomalies in children with congenital anorectal malformation

    OpenAIRE

    Hoekstra, J.W.

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find an effective treatment. In the days of Assurbanipal, king of Assyria from 668 to 627 B.C., the library of Ninive contained a cuneiform tablet with a text about a child born without an anus (Scharli 197...

  11. Behavioral Effects of Congenital Ventromedial Prefrontal Cortex Malformation

    OpenAIRE

    Boes Aaron D; Grafft Amanda; Joshi Charuta; Chuang Nathaniel A; Nopoulos Peg; Anderson Steven W

    2011-01-01

    Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testin...

  12. Diffusion tensor imaging of midline posterior fossa malformations

    International Nuclear Information System (INIS)

    Diffusion tensor imaging and tractography have been used to evaluate a variety of brain malformations. However, these studies have focused mainly on malformations involving the supratentorial compartments. There is a paucity of data on diffusion tensor imaging of posterior fossa malformations. To describe the color vector maps and modified or abnormal tracts of midline posterior fossa malformations. Diffusion tensor imaging was performed in one patient with rhombencephalosynapsis and two with Joubert syndrome. Color vector maps of fractional anisotropy were used to place a region of interest for seed point of fiber tracking. The vermis was severely hypoplastic or absent in rhombencephalosynapsis and Joubert syndrome. In rhombencephalosynapsis, vertically oriented fibers were visualized in the midportion of the cerebellum. The location of the deep cerebellar nuclei could be inferred from the amiculum and were medially located in rhombencephalosynapsis. In the two patients with Joubert syndrome, the horizontally arranged superior cerebellar peduncles were well demonstrated on the color vector maps. Failure of the superior cerebellar peduncles to decussate in the mesencephalon was also well demonstrated on both color vector maps and tractography. The deep cerebellar nuclei were more laterally located in Joubert syndrome. The use of tractography in midline posterior fossa malformations expands our understanding of these malformations. (orig.)

  13. Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

    International Nuclear Information System (INIS)

    Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9th , 12th and 15th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12th and 15th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

  14. Update on neuroimaging phenotypes of mid-hindbrain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Jissendi-Tchofo, Patrice [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); CHU Saint-Pierre, Radiology Department, Pediatric Neuroradiology Section, Brussels (Belgium); Severino, Mariasavina [Istituto Giannina Gaslini, Neuroradiology Unit, Genoa (Italy); Nguema-Edzang, Beatrice; Toure, Cisse; Soto Ares, Gustavo [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); Barkovich, Anthony James [University of California, Neuroradiology Section, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States)

    2014-10-23

    Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification. We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics. We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain. Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies. (orig.)

  15. Neuroimaging of malformation of cortical development

    International Nuclear Information System (INIS)

    Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development.The common clinical presentation is refractory epilepsy and or developmental delay. The aim of this paper is to describe and analyze magnetic resonance (MR) findings and to present protocol for examination. We analyze MR findings in 17 patients with MCD. The average age was 12,1 year (from 2 months - 57 years). The main indications from reference physician are epilepsy and developmental delay. In 12 patients 1.5T MR was performed, and in 5 - 0.5T. Subependymal heterotopias was found in 6 patients, focal cortical dysplasia - 3. polymicrogyria - 3, schizencephaly - 2, hemimegalencephaly -1, lizencephaly -1, tuberous sclerosis -1. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria. schizencephaiy, pachygyria and lizencephaly. In our study the number of patients is not big enough to make a conclusion about frequency of the forms of MCD and our goal is to analyze MR findings which are not well studied in our country. MRI is the method of choice for diagnosis of MCD. The protocol should be different from routine brain protocol to interpret the images with good quality and not miss the pathology. Knowledge of MR findings in MCD would help for genetic counselling in some cases or can predict prognosis in some patients. (authors)

  16. Repeat radiosurgery for cerebral arteriovenous malformations.

    Science.gov (United States)

    Awad, Ahmed J; Walcott, Brian P; Stapleton, Christopher J; Ding, Dale; Lee, Cheng-Chia; Loeffler, Jay S

    2015-06-01

    We perform a systematic review of repeat radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeat radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42Gy and 19.06Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9-71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8months. The most common complications of repeat radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at 3 years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. PMID:25913746

  17. Open resections for congenital lung malformations

    Directory of Open Access Journals (Sweden)

    Mullassery Dhanya

    2008-01-01

    Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

  18. Local Model of Arteriovenous Malformation of the Human Brain

    Science.gov (United States)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  19. Gross congenital malformation at birth in a government hospital

    Directory of Open Access Journals (Sweden)

    Sandeep Sachdeva

    2014-01-01

    Full Text Available A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks with three leading malformation as anencephaly (44.68%, talipes equinovarus (17.02% and meningomyelocele (10.63%. Higher risk of malformed births were noticed amongst un-booked (2.07% in-comparison to booked (1.01% mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]; gravida status of at least 3 (2.69% followed by 1 (1.43% and 2 (1.0% respectively; pre-term (5.13% vs. term (0.66%; cesarean section (4.36% versus vaginal delivery (0.62%. Mortality was significantly higher among congenitally malformed (17.35% than normal (0.34% newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid that needs appropriate attention and management.

  20. Local Model of Arteriovenous Malformation of the Human Brain

    International Nuclear Information System (INIS)

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  1. Cerebral cavernous malformations. Serial magnetic resonance imaging findings in patients with and without gamma knife surgery

    International Nuclear Information System (INIS)

    To classify the cerebral cavernous malformations and to investigate the natural history of cavernous malformations according to the classification, 41 patients with 61 cavernous malformations (40 cavernous malformations from 22 patients treated with gamma knife surgery) were regularly followed up using MR imaging for a mean period of 25.5 months in treated cavernous malformations and 20.7 months in untreated cavernous malformations, respectively. Cavernous malformations were classified into four types. Follow-up MR images were analyzed to evaluate changes in size, signal intensity, rebleeding, and perilesional adverse reaction of irradiation. A total of 61 cavernous malformations including 17 in type I, 23 in type II, 10 in type III, and 11 in type IV showed usual degradation of blood product in 22 cavernous malformations, no change in shape and signal intensity in 31 cavernous malformations, and eight cavernous malformations with rebleedings in the serial MR images. In these eight cavernous malformations with rebleedings, six occurred in type II and two in type III, but none in type I or IV. Rebleedings were more frequent in type II than in other types. Adverse reaction of irradiation was observed in five of 22 patients treated with gamma knife surgery. Although most cerebral cavernous malformations showed evolution of hemorrhage or no change in size or shape on follow-up MR images, cerebral cavernous malformations represented as mixture of subacute and chronic hemorrhage with hemosiderin rim (type II) have a higher frequency to rebleed than other types of cerebral cavernous malformations. Cerebral cavernous malformations represented as hemosiderin deposition without central core (type IV) have a lower tendency to rebleed than other types and do not need any treatment. Most of the adverse reaction of irradiation after gamma knife surgery around cavernous malformations are transient findings and are considered to be perilesional edema. (K.H)

  2. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

    International Nuclear Information System (INIS)

    More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

  3. Management of patients with brain arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Soederman, Michael E-mail: michael.soderman@ks.se; Andersson, Tommy; Karlsson, Bengt; Wallace, M. Christopher; Edner, Goeran

    2003-06-01

    Arteriovenous malformations (AVMs) of the brain, which are probably genetically determined, are errors in the development of the vasculature that, together with the effects of blood flow, may lead to a focal arteriovenous shunt. Clinically, the adult patient may present with acute or chronic neurological symptoms--fixed or unstable--such as deficits, seizures or headache. Sometimes the lesion is an incidental finding. In about half of the patients, the revealing event is an intracranial haemorrhage. The prevalence of AVM in the western world is probably <0.01% and the detection rate is about one per 100,000 person-years. Most AVMs are revealed in patients 20-40 years of age. Therefore, the risk of developing neurological symptoms from an AVM, usually because of haemorrhage, increases with patient age. In the young adult population, AVMs are significant risk factors for hemorrhagic stroke. This risk increases with AVM volume and is higher in centrally located AVMs. Almost all patients with AVM are subjected to treatment, either by surgery, radiosurgery or embolisation, with the functional aim of reducing the risk of haemorrhage or to alleviate neurological symptoms with an acceptable treatment risk. Few neurocentres have physicians highly skilled in all treatment modalities. Therefore, the prescribed treatment may not be defined from an objective assessment of what is optimal for each individual patient, but rather from local expertise. In this context, more and better data about the natural history and the outcome of different treatments, as well as predictive models, would be valuable to help to optimise the management. Management strategies obviously differ according to local preferences, but results presented in the literature suggest the following strategy: (I) cortically located AVMs with a nidus volume <10 ml could be operated, with or without presurgical embolisation, unless there is a single feeder that can easily be catheterised and embolised for

  4. DANDY-WALKER MALFORMATION: A RARE CONGENITAL ANOMALY

    Directory of Open Access Journals (Sweden)

    Uroos

    2014-08-01

    Full Text Available Dandy Walker Malformation (DWM is a congenital malformation involving the cerebellum and fluid filled spaces around it. A key feature of this syndrome is partial or complete absence of a part of brain located between two cerebellar hemispheres ie. cerebellar vermis.(1 Dandy walker malformation was originally described in 1887 by Sutton and further characterized by Dandy and Blackfan in 1914 followed by Tagart and Walker in 1942. Benda finally labeled this disease as Dandy Walker in 1954. (2 Since the original description, additional studies have reported on various morphological features of this syndrome. It is a genetically sporadic disorder that occurs one in every 30,000live births. (3 Because of its rarity, here we report a case of DWM, in a fetus in which the diagnosis was made prenatally on USG. Later on, MTP was done by expulsion. Fetus was sent for autopsy to rule out other associated congenital abnormalities

  5. A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    International Nuclear Information System (INIS)

    The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly. (orig.)

  6. Fistulectomy as a surgical option for pulmonary arteriovenous malformation

    Institute of Scientific and Technical Information of China (English)

    ZHANG Shao-yan; ZHANG Zhi-tai; OU Song-lei; HU Yan-sheng; SONG Fei-qiang; LI Xin; MA Xu-chen; MA Xin-xin; LIANG Lin; LI Dong; GUO Lin; SUN Zhen

    2009-01-01

    Background Surgical resection remains the treatment of choice for pulmonary arteriovenous malformation but removes some normal lung parenchyma. This study aimed to evaluate the effect and safety of the lung-saving procedure of fistulectomy as an alternative to lung resection.Methods From July 2003 to July 2008, 6 selected patients with pulmonary arteriovenous malformations underwent fistulectomies. Among them, 1 patient underwent emergency operation and 2 underwent bilateral operations. One patient received postoperative embolotherapy.Results No hospital deaths or postoperative morbidity occurred. PaO_2 increased significantly after operation. All patients were free of symptoms and hypoxia during a follow-up for 9 months to 5 years.Conclusions Fistulectomy is a safe and effective procedure for patients with pulmonary arteriovenous malformation and may be an alternative to lung resection.

  7. Electroencephalography in congenital malformations of the central nervous system.

    Science.gov (United States)

    Campos, P; Cruz, G; Lizarraga, R; Bancalari, E; Guillen, D; Castañeda, C

    1994-12-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries. PMID:7611945

  8. Congenital ossicular malformation. A study of 27 ears

    International Nuclear Information System (INIS)

    Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

  9. Models of cortical malformation--Chemical and physical.

    Science.gov (United States)

    Luhmann, Heiko J

    2016-02-15

    Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans. PMID:25850077

  10. Pattern of Limb Malformations in Mice Induced by Methoxyacetic Acid

    OpenAIRE

    Rasjad, Chairuddin; Yamashita, Keisuke; Datu, Abdul Razak; Yasuda, Mineo

    1991-01-01

    The present study investigated the pattern of limb malformations induced in mice by methoxyacetic acid (MAA), one of di(2-methoxyethyl) phthalate (DMEP) metabolites. Pregnant Jcl:ICR mice were given orally at gestational day (gd) 10.5, 11.0, or 11.5 (vaginal plug = gd 0) a single dose of MAA 10 mmol/kg of body weight. Fetuses were examined at gd 15.5 for external and skeletal malformations. Limb defects were maximum in frequency and severity after administration at gd 11.5. Forelimbs had grea...

  11. Diffusion tensor imaging and fiber tractography in brain malformations

    International Nuclear Information System (INIS)

    Diffusion tensor imaging (DTI) is an advanced MR technique that provides qualitative and quantitative information about the micro-architecture of white matter. DTI and its post-processing tool fiber tractography (FT) have been increasingly used in the last decade to investigate the microstructural neuroarchitecture of brain malformations. This article aims to review the use of DTI and FT in the evaluation of a variety of common, well-described brain malformations, in particular by pointing out the additional information that DTI and FT renders compared with conventional MR sequences. In addition, the relevant existing literature is summarized. (orig.)

  12. Occlusion of pulmonary arteriovenous malformations by use of vascular plug

    DEFF Research Database (Denmark)

    Andersen, P E; Kjeldsen, A D

    2007-01-01

    Pulmonary arteriovenous malformations are commonly treated by embolization with coils or balloons to prevent cerebral complications and to raise the oxygenation of the blood. The Amplatzer vascular plug is a new occlusive device made of a self-expanding cylindrical nitinol mesh. It is fast and safe...... to position, and can be repositioned before final delivery. It is especially suited for embolization of large high-flow vessels as in pulmonary arteriovenous malformations with big feeding arteries. Two cases of successful use of the new device for treatment of large pulmonary arteriovenous...

  13. Diffusion tensor imaging and fiber tractography in brain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Poretti, Andrea; Meoded, Avner; Huisman, Thierry A.G.M. [The Johns Hopkins University School of Medicine, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States); Rossi, Andrea [G. Gaslini Institue, Pediatric Neuroradiology, Genova (Italy); Raybaud, Charles [University of Toronto, Department of Neuroradiology, Hospital for Sick Children, Toronto, ON (Canada)

    2013-01-15

    Diffusion tensor imaging (DTI) is an advanced MR technique that provides qualitative and quantitative information about the micro-architecture of white matter. DTI and its post-processing tool fiber tractography (FT) have been increasingly used in the last decade to investigate the microstructural neuroarchitecture of brain malformations. This article aims to review the use of DTI and FT in the evaluation of a variety of common, well-described brain malformations, in particular by pointing out the additional information that DTI and FT renders compared with conventional MR sequences. In addition, the relevant existing literature is summarized. (orig.)

  14. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  15. Imaging features of ductal plate malformations in adults

    Energy Technology Data Exchange (ETDEWEB)

    Venkatanarasimha, N., E-mail: nandashettykv@yahoo.com [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom); Thomas, R.; Armstrong, E.M.; Shirley, J.F.; Fox, B.M.; Jackson, S.A. [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom)

    2011-11-15

    Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

  16. Berry syndrome in association with familial limb malformation.

    LENUS (Irish Health Repository)

    Shahdadpuri, R

    2012-02-01

    We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child\\'s mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.

  17. Imaging features of ductal plate malformations in adults

    International Nuclear Information System (INIS)

    Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

  18. Multimodality treatment approach in children with cerebral arteriovenous malformation--a survey in the Danish population

    DEFF Research Database (Denmark)

    Skjøth-Rasmussen, Jane; Obbekjær, Tina; Birkeland, Peter; Hauerberg, John; Juhler, Marianne

    2012-01-01

    Multimodality treatment approach in children with cerebral arteriovenous malformation--a survey in the Danish population......Multimodality treatment approach in children with cerebral arteriovenous malformation--a survey in the Danish population...

  19. Effects of Co60 gamma radiation on Biomphalaria glabrata (Say, 1818) Embryo. II. Malformations

    International Nuclear Information System (INIS)

    The morphogenetic effects of ionizing radiation were investigated in Biomphalaria glabrata embryos irradiated in the cleavage, blastula, gastrula, young trochophore and trochophore stages with 5 to 25 Gy doses of 60CO gamma radiation. The number of malformed embryos rapidly increased with increasing radiation dose, reaching a maximum between 5th to 8th day after irradiation in all stages analyzed. Susceptibility to malformation induction was higher the younger than the age of the irradiated embryo. However, for the cleavage stage the frequency of malformed embryos was inversely proportional to radiation dose for the same radiation dose. Several types of morphogenetic malformations were obtained, among then cephalic malformations, exogastrula, shell malformations and embryos with everted stomodeum, unspecific malformations being the most frequent. The results show that the types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied

  20. A Method for Disguising Malformed SIP Messages to Evade SIP IDS

    OpenAIRE

    Yulong Wang; Lei Wang

    2013-01-01

    Malformed SIP attacks are threatening the security of VoIP system, such as IP Multimedia Subsystem, which uses SIP (Session Initiation Protocol) as its core protocol. Though IDSs (Intrusion Detection System) supporting malformed SIP detection had been produced, it was not clear to what extent they can detect disguised malformed SIP messages. This paper analyzes the condition of SIP IDS evasion and proposes a method for disguising malformed SIP messages. Based on the disguising method, a testi...

  1. Psychosocial job strain and risk of congenital malformations in offspring--a Danish National cohort study

    DEFF Research Database (Denmark)

    Larsen, A D; Hannerz, H; Thulstrup, A M;

    2014-01-01

    OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth...... strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression...

  2. Mimosa tenuiflora as a Cause of Malformations in Ruminants in the Northeastern Brazilian Semiarid Rangelands

    Science.gov (United States)

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to gr...

  3. Research Concerning the Correlations Between Urinary Tract Infections and Congenital Malformations of the Renourinary System

    OpenAIRE

    Moréh Zsuzsanna; Voicu Lucia Sanda

    2013-01-01

    Introduction: Congenital malformations of the urinary system are risk factors for the development of urinary tract infections (UTI). Besides the severity of the malformation, urinary infection is always associated with poor prognosis for these patients. Late discovery of the malformation background, after several urinary tract infection episodes, contributes to the development of chronic pyelonephritis that may lead to chronic renal failure.

  4. Research Concerning the Correlations Between Urinary Tract Infections and Congenital Malformations of the Renourinary System

    Directory of Open Access Journals (Sweden)

    Moréh Zsuzsanna

    2013-02-01

    Full Text Available Introduction: Congenital malformations of the urinary system are risk factors for the development of urinary tract infections (UTI. Besides the severity of the malformation, urinary infection is always associated with poor prognosis for these patients. Late discovery of the malformation background, after several urinary tract infection episodes, contributes to the development of chronic pyelonephritis that may lead to chronic renal failure.

  5. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    Science.gov (United States)

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  6. Management of antenatally diagnosed pulmonary sequestration associated with congenital cystic adenomatoid malformation

    OpenAIRE

    Samuel, M; BURGE, D.

    1999-01-01

    BACKGROUND—Sequestration with associated cystic adenomatoid malformation is rare. A study was undertaken to determine whether pulmonary sequestration associated with congenital cystic adenomatoid malformation has a more favourable natural history than that of sequestration without associated cystic adenomatoid malformation.
METHODS—An outline of the postnatal work up leading to the management of extralobar or intralobar pulmonary sequestration with congenital cystic ad...

  7. Study of Congenital Malformation in Neonates Born at Tertiary Care Hospital

    Directory of Open Access Journals (Sweden)

    Vaishali J Prajapati, Asruti R Kacha, Khyati M Kakkad, Panchsila B Damor, Abhishek M Nandaniya

    2015-01-01

    Conclusion: Incidence of congenital malformations was significantly high in still born babies. Factors like prematurity, low birth weight, birth order four or more, liquor abnormalities and maternal age more than 35 years were found to carry higher risk for congenital malformations. Musculoskeletal system was most commonly affected. Congenital talipes equino varus was the commonest malformation."

  8. Segmental dilatation of colon associated with anorectal malformation

    Directory of Open Access Journals (Sweden)

    Mahajan J

    2007-01-01

    Full Text Available Children with segmental dilatation of the colon suffer severe constipation and are clinically indistinguishable from Hirschsprung disease. Segmental dilatation of colon is rare in neonates. In this report, a neonate with unusual combination of segmental dilatation of the colon and high anorectal malformation is presented.

  9. Corpus callosum arteriovenous malformation with persistent trigeminal artery.

    Science.gov (United States)

    Mohanty, Chandan B; Devi, B Indira; Somanna, Sampath; Bhat, Dhananjaya I; Dawn, Rose

    2011-12-01

    A 13-year-old boy presented with an intracerebral haematoma secondary to a large corpus callosal arteriovenous malformation (AVM) with an associated persistent trigeminal artery, and was treated with Gamma-Knife Radiosurgery for the AVM. This report discusses the embryological basis, radiological features and various classifications of this rare vascular anomaly. PMID:21501055

  10. Coiling of a vulvar arterio-venous malformation

    OpenAIRE

    Van der Woude, Daisy Adriana Annejan; Stegeman, Marjan; Seelen, Jan L

    2011-01-01

    The authors report the case of a 13-year-old girl with a painful vulvar swelling and abnormal vaginal bleeding, increasing in size after trauma. With MRI (GE Signa HDx 1.5 Tesla), it is diagnosed as an arterio-venous malformation arising from the left superior femoral artery. It is treated by embolisation using a coil.

  11. [Congenital malformations of the external and middle ear].

    Science.gov (United States)

    Wang, Zhaoyan; Yang, Jun; Wu, Hao

    2013-07-01

    Congenital malformations of the external and middle ear is the common reason of pediatric hearing impairment and cosmic problem. The treatment composes of auricular plastic surgery and auditory reconstruction surgery. The use of BAHA, vibrant sound-bridge and tissue engineering materials can significantly improve the treatment outcomes. PMID:24073571

  12. Screening for pulmonary arteriovenous malformations: contrast echocardiography versus pulse oximetry

    DEFF Research Database (Denmark)

    Oxhøj, H; Kjeldsen, A D; Nielsen, G

    2000-01-01

    purpose. The aim of this investigation was to compare pulse oximetry and contrast echocardiography as screening tools for detection of pulmonary arteriovenous malformations. Eighty-five hereditary haemorrhagic telangiectasia (HHT) patients and first-degree relatives identified in a comprehensive study of...

  13. Proximity to pollution sources and risk of amphibian limb malformation.

    Science.gov (United States)

    Taylor, Brynn; Skelly, David; Demarchis, Livia K; Slade, Martin D; Galusha, Deron; Rabinowitz, Peter M

    2005-11-01

    The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42-3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem. PMID:16263502

  14. Echotomography in the study of the uropathologic malformation in children

    International Nuclear Information System (INIS)

    The authors report on the usefulness of ultrasound in the study of uropathology malformations in children. They analize some caracteristic ecotomographic patterns of this pathology and emphasize validity and usefulness of the technique in diagnosis and the follow-up of these cases

  15. Congenital malformations and maternal occupational exposure to glycol ethers

    NARCIS (Netherlands)

    Cordier, S; Bergeret, A; Goujard, J; Ha, MC; Ayme, S; Calzolari, E; DeWalle, HEK; KnillJones, R; Candela, S; Dale, [No Value; Dananche, B; deVigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-01-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during preg nanc

  16. Radiosurgery with a linear accelerator in cerebral arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Esteves, Sergio Carlos Barros; Nadalin, Wladimir; Piske, Ronie Leo; Benabou, Salomon; Souza, Evandro de; Oliveira, Antonio Carlos Zuliani de [Hospital Beneficencia Portuguesa de Sao Paulo, Sao Paulo, SP (Brazil)]. E-mail: estevesrt@uol.com.br

    2008-07-01

    Objective. To evaluate results achieved with radiosurgery and complications of the procedure when treating arteriovenous malformations with linear accelerator. Methods. This retrospective study was conducted between October 1993 and December 1996. Sixty-one patients with arteriovenous malformations were treated with radiosurgery utilizing a 6 MW energy linear accelerator. Ages of the 32 female and 29 male patients ranged from 6 to 54 years (mean: 28.3 years). The most frequent initial symptom was cephalea (45.9%), followed by neurological deficit (36.1%). Cerebral hemorrhage diagnosed by image was observed in 35 patients (57.3%). Most arteriovenous malformations (67.2%) were graded Spetzler III and IV. Venous stenosis (21.3%) and aneurysm (13.1%) were the most frequent angio-architecture changes. The dose administered varied from 12 to 27.5 Gy in the periphery of the lesion. Results. Out of twenty-eight patients that underwent conclusive angiography control, complete obliteration was achieved in 18 (72%) and treatment failed in 7 (absence of occlusion with more than 3 years of follow-up). Four were submitted to a second radiosurgery, and one of these has shown obliteration after 18 months of follow-up. Discussion. Several factors were analyzed regarding the occlusion rate (gender, age, volume, localization, Spetzler, flow , embolization, total of isocenters, prescribed dose and chosen isodose) and complications (total of isocenters, localization, volume, maximum dose, prescribed dose and chosen isodose). Analyzed variables showed no statistical significance for obliteration of the vessel, as well as for treatment complications. The largest diameter of the arteriovenous malformation, its volume and the dose administered did not influence time of obliteration. Conclusion. Radiosurgery is effective in the treatment of arteriovenous malformations and can be an alternative for patients with clinical contraindication or with lesions in eloquent areas. In the studied

  17. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

    Science.gov (United States)

    Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

    2013-04-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  18. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    Energy Technology Data Exchange (ETDEWEB)

    Lv, Ming-ming, E-mail: lvmingming001@163.com [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China); Fan, Xin-dong, E-mail: fanxindong@yahoo.com.cn [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China); Su, Li-xin, E-mail: sulixin1975@126.com [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  19. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    International Nuclear Information System (INIS)

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model

  20. CT analysis of 333 cases of congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    To analyze the different CT findings of congenital malformations of the external and middle ear, 333 cases including 404 ears with external and middle ear malformations diagnosed by high resolution CT (HRCT) were analysed according to the location and type of the malformation. In 404 ears, there were 364 ears with atresia of external auditory meatus, 40 ears with stenosis of external auditory meatus, 377 ears with malformation of the ossicles, 382 ears with stenosis of tympanum and 333 ears with anterior position of the mastoid segment of the facial canal. HRCT can show the location and type of external and middle ear malformation and provide valuable information for surgery

  1. MRI phenotypes of localized intravascular coagulopathy in venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Koo, Kevin S.H. [Boston Children' s Hospital, Department of Radiology, Boston, MA (United States); Dowd, Christopher F.; Hess, Christopher P. [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); Mathes, Erin F.; Frieden, Ilona J. [University of California, San Francisco, Department of Dermatology, San Francisco, CA (United States); Rosbe, Kristina W. [University of California, San Francisco, Department of Otolaryngology, San Francisco, CA (United States); Hoffman, William Y. [University of California, San Francisco, Department of Surgery, San Francisco, CA (United States)

    2015-10-15

    The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

  2. MRI phenotypes of localized intravascular coagulopathy in venous malformations

    International Nuclear Information System (INIS)

    The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

  3. Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Zhang Wei-Min

    2005-06-01

    Full Text Available Abstract Background Gaucher disease type I, the non-neuropathic type, usually presents in adulthood with hepatosplenomegaly. We report here an adult with type I Gaucher disease presented with unusual and severe clinical manifestations. Case presentation Hepatosplenomegaly, bone crisis and fractures occurred at early childhood, and splenectomy was performed at the age of 5. Exophthalmos with increase in retrobulbar space was noted when the patient was 30. Cerezyme infusion started at the age of 32; but unfortunately, pulmonary arteriovenous malformation with dyspnea and hypoxemia was found two years later. Gene analysis revealed V375L/L444P mutations in the β-glucocerebrosidase gene. Conclusion Although both eye and lung diseases have been associated with Gaucher disease, this is the first reported demonstration of exophthalmos and pulmonary arteriovenous malformation in the same patient. This case may therefore present an extremely severe and unusual form of type I Gaucher disease.

  4. Management of extensive intraparotid vascular malformation: a case report

    Directory of Open Access Journals (Sweden)

    Katerina Anesti

    2014-06-01

    Full Text Available Treatment of large soft tissue vascular lesions remains one of the greatest challenges in modern plastic surgery. The extent of the disease and the involved structures, but also the expectations of the patients are important in determining the way of treatment. The effective management of hemangiomas and vascular malformations of the head and neck requires a team approach, in order to understand the biologic behavior of the lesion, complete the diagnostic studies necessary to define the area of involvement, and understand the benefits and limitations of interventional radiologic and surgical procedures. The synthesis of this knowledge can help determine the best treatment. The strategic plan and subsequent management of a 34-year-old Maori man with an extensive arteriovenous intraparotid malformation is presented.

  5. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    Directory of Open Access Journals (Sweden)

    Boes Aaron D

    2011-12-01

    Full Text Available Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process.

  6. Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

    Directory of Open Access Journals (Sweden)

    Nikolaos Mouchtouris

    2015-01-01

    Full Text Available Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics.

  7. Diagnosis by imaging technique in kidney and urinary tract malformations

    International Nuclear Information System (INIS)

    The diagnostic sensitivity of Ultrasound (US) was studied in 142 children with suspected kidney and urinary tract malformations. According to the clinical tests performed the patients underwent excretory urography (EU) and/or voiding cystouretrography (VCU); the results were compared to US findings. In the 75 patients with malformations, US proved to be extremely sensitive in abdominal renal ectopies, in ''horseshoe'' kidney, and in congenital obstructions of the ureteropelvic and vesico-ureteral junctions. US showed a higher sensitivity than EU in identifying multicystic kidney and in most cases of hypodysplasia. On the other hand, VCU was more accurate in vesico-ureteral reflux studies; US should thus be used in the follow-up of the patients undergoing medical therapy. EU must however be considered as the most important tool in the evaluation of early renal injuries and their possible development

  8. Pediatric lymphatic malformations: evolving understanding and therapeutic options.

    Science.gov (United States)

    Defnet, Ann M; Bagrodia, Naina; Hernandez, Sonia L; Gwilliam, Natalie; Kandel, Jessica J

    2016-05-01

    Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, along with knowledge gained from clinical practice. A patient-centered approach, ideally provided by a multidisciplinary medical and surgical team, should guide timing and modality of treatment. Current treatment options include observation, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New medical and surgical therapies are emerging, and include sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management is to support and optimize these patients' quality of life. Researchers continue to study lymphatic malformations with the goal of increasing therapeutic options and developing effective clinical pathways for these complicated lesions. PMID:26815877

  9. CT findings of dural arteriovenous malformation in the posterior fossa

    International Nuclear Information System (INIS)

    CT findings in eight cases of dural arteriovenous malformation, mainly involving the dura mater and the tentorium cerebelli of the posterior fossa, are reported. The main findings observed on CT scans may be summarized as follows: 1) patchy and vermiform enhancement after the intravenous injection of the contrast medium; 2) abnormal low-density area; 3) local mass effect; 4) hydrocephalus; 5) distention and aneurysmal dilatation of the major venous sinus system, and 6) dilated meningeal grooves of the skull inner table. These findings were commonly noted in the patients with Types II, III and IV in Djinjian's classification. The abnormal low density with or without patchy and vermiform enhancement and/or hydrocephalus are most likely caused by a disturbed venous return of the cerebral parenchyma and an impaired absorption of the cerebrospinal fluid due to the increased pressure of the venous sinus system. These findings were improved following artificial embolization or surgical excision of the dural arteriovenous malformation. (author)

  10. Ischaemic stroke with intact atrial septum--exclude arteriovenous malformations.

    Science.gov (United States)

    Doering, Friederike; Eicken, Andreas; Hess, John

    2014-02-01

    A 44-year-old woman was referred to our centre for interventional cardiac catheterisation. The diagnostic work-up after a preceding ischaemic stroke led to the assumption of a patent foramen ovale due to a positive bubble study. Before the planned percutaneous closure of the patent foramen ovale, we performed a second bubble study, which showed an intact atrial septum. However, after two to three heart cycles bubbles could be detected in the left atrium, assuming a right-to-left shunt of an extracardiac origin most likely in the lung. We therefore performed cardiac catheterisation, yielding a pulmonary arteriovenous malformation in the lower lobe of the right lung. This was successfully closed interventionally by placing a Cook coil, as well as several plugs into the malformation and feeding vessels. PMID:23347820

  11. Complex Vertebral Malformation (CVM) in an Italian Holstein calf

    International Nuclear Information System (INIS)

    Complex Vertebral Malformation, a congenital and lethal genetic defect of Holstein breed, has been recently observed in different Countries all over the world. In this paper the AA describe the clinical and radiological aspects of CVM in a two day old female calf. The disease was characterized by low body weight, symmetrical arthrogryposis and partial rotation of all legs and scoliosis. Calf was alert and showed physiological appetite, but was not able to maintain the quadrupedal stance. Radiographs of the vertebral column showed multiple vertebral anomalies, including hemivertebrae, fused and misshapen vertebrae and ribs and scoliosis, that affected mainly the caudal, cervical and thoracic regions. At necropsy, besides the skeleton anomalies, complex malformation of the heart was observed, which included atrial and interventricular defects and patent ductus arteriosus. This is the first case of CVM completely documented and genetically tested in Italy

  12. Brain Arteriovenous Malformation Modeling, Pathogenesis and Novel Therapeutic Targets

    OpenAIRE

    Chen, Wanqiu; Choi, Eun-Jung; McDougall, Cameron M.; Su, Hua

    2014-01-01

    Patients harboring brain arteriovenous malformation (bAVM) are at life-threatening risk of rupture and intracranial hemorrhage (ICH). The pathogenesis of bAVM has not been completely understood. Current treatment options are invasive and ≈ 20% of patients are not offered interventional therapy because of excessive treatment risk. There are no specific medical therapies to treat bAVMs. The lack of validated animal models has been an obstacle for testing hypotheses of bAVM pathogenesis and test...

  13. Parental perceptions of congenital cardiovascular malformations in their children.

    Science.gov (United States)

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute. PMID:26561359

  14. Management of extensive intraparotid vascular malformation: a case report

    OpenAIRE

    Katerina Anesti; Zachary Moaveni; Heng-Yi Wu

    2014-01-01

    Treatment of large soft tissue vascular lesions remains one of the greatest challenges in modern plastic surgery. The extent of the disease and the involved structures, but also the expectations of the patients are important in determining the way of treatment. The effective management of hemangiomas and vascular malformations of the head and neck requires a team approach, in order to understand the biologic behavior of the lesion, complete the diagnostic studies necessary to define the area ...

  15. Cardiac and vascular malformations; Fehlbildungen von Herz und Gefaessen

    Energy Technology Data Exchange (ETDEWEB)

    Ley, S. [Chirurgische Klinik Dr. Rinecker, Abteilung fuer Diagnostische und Interventionelle Radiologie, Muenchen (Germany); Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Muenchen (Germany); Ley-Zaporozhan, J. [Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Abteilung Paediatrische Radiologie, Muenchen (Germany)

    2015-07-15

    Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality. (orig.) [German] Fehlbildungen von Herz und Gefaessen zeigen einen erheblichen Variationsspielraum. Es gibt zahlreiche Varianten und Defekte mit geringer Auspraegung, welche nur per Zufall im Lauf des Lebens detektiert werden; hierzu zaehlen z. B. die persistierende linke obere Hohlvene oder partielle Lungenvenenfehlmuendungen. Andere kardiovaskulaere Fehlbildungen zeigen sich frueh post partum und muessen zeitnah, meist operativ, versorgt werden. Zu diesem Zeitpunkt ist die Echokardiographie ein etabliertes und vollstaendig ausreichendes Verfahren zur morphologischen und funktionellen Charakterisierung. Nur in seltenen Faellen wird eine zusaetzliche Bildgebung mittels CT oder MRT benoetigt. Wenn ja, stellen die kleinen anatomischen Strukturen, die physiologische Tachykardie und Tachypnoe eine besondere Herausforderung fuer die Diagnostik dar. In dieser Uebersicht werden, unabhaengig vom diagnostischen Verfahren, die haeufigsten vaskulaeren, kardialen und komplexen kardiovaskulaeren Malformationen

  16. Endovascular Therapy Followed by Stereotactic Radiosurgery for Cerebral Arteriovenous Malformations

    OpenAIRE

    Arai, Y.; Handa, Y.; Ishii, H; Ueda, Y.; Uno, H; Nakajima, T.; Hirose, S; Kubota, T.

    2006-01-01

    Pre-radiosurgical embolization was carried out using cyanoacrylate in seven of 13 patients with cerebral arteriovenous malformations (AVMs) treated by stereotactic radiosurgery (SRS) with a linear accelerator (LINAC). The aim of embolization before SRS was the reduction of AVM volume and/or the elimination of vascular structures bearing an increased risk of haemorrhage. Staged-volume SRS was also performed in two patients because of residual irregular shaped nidus of AVMs even after the embol...

  17. Outcome of cerebral arteriovenous malformations after linear accelerator reirradiation

    OpenAIRE

    Moraes, Paulo L.; Rodrigo S Dias; Eduardo Weltman; Adelmo J Giordani; Salomon Benabou; Segreto, Helena R. C.; Segreto, Roberto A.

    2015-01-01

    Background: The aim of this study was to evaluate the clinical outcome of patients undergoing single-dose reirradiation using the Linear Accelerator (LINAC) for brain arteriovenous malformations (AVM). Methods: A retrospective study of 37 patients with brain AVM undergoing LINAC reirradiation between April 2003 and November 2011 was carried out. Patient characteristics, for example, gender, age, use of medications, and comorbidities; disease characteristics, for example, Spetzler-Martin ...

  18. Human gene copy number spectra analysis in congenital heart malformations

    OpenAIRE

    Tomita-Mitchell, Aoy; Mahnke, Donna K.; Struble, Craig A; Tuffnell, Maureen E.; Stamm, Karl D.; Hidestrand, Mats; Harris, Susan E.; Goetsch, Mary A; Simpson, Pippa M; Bick, David P.; Broeckel, Ulrich; Pelech, Andrew N.; Tweddell, James S.; Mitchell, Michael E.

    2012-01-01

    The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical appro...

  19. Two cases of broncho-pulmonary foregut malformations

    Directory of Open Access Journals (Sweden)

    Εleftherios D. Spartalis

    2009-01-01

    Full Text Available SUMMARY. Congenital broncho-pulmonary malformations are mostly asymptomatic. They are diagnosed during the investigation of a pulmonary infection or after a chest x-ray. Fetal ultrasound, chest x-ray, ventilation-perfusion scan, CT, MRI, barium meal, esophagoscopy, bronchoscopy and digital angiography can be used for further investigation. Surgical excision was our treatment of choice and had a significally good prognosis. Pneumon 2009; 22(2:178–185.

  20. Suppression of MMP-9 by doxycycline in brain arteriovenous malformations

    OpenAIRE

    Li Jenny F; Matsumoto Melissa M; Hashimoto Tomoki; Lawton Michael T; Young William L

    2005-01-01

    Abstract Background The primary aim of this study is to demonstrate the feasibility of utilizing doxycycline to suppress matrix metalloproteinase-9 (MMP-9) in brain arteriovenous malformations (AVMs). Methods Ex-vivo treatment of AVM tissues: Intact AVM tissues were treated with doxycycline for 48 hours. Active and total MMP-9 in the medium were measured. Pilot trial: AVM patients received either doxycycline (100 mg) or placebo twice a day for one week prior to AVM resection. Active and total...

  1. Two cases of broncho-pulmonary foregut malformations

    OpenAIRE

    Εleftherios D. Spartalis; Elias Lachanas; Dionisios Pavlopoulos; Othonas P. Michail; Anna Karakatsani; Perikles Tomos

    2009-01-01

    SUMMARY. Congenital broncho-pulmonary malformations are mostly asymptomatic. They are diagnosed during the investigation of a pulmonary infection or after a chest x-ray. Fetal ultrasound, chest x-ray, ventilation-perfusion scan, CT, MRI, barium meal, esophagoscopy, bronchoscopy and digital angiography can be used for further investigation. Surgical excision was our treatment of choice and had a significally good prognosis. Pneumon 2009; 22(2):178–185.

  2. [Combined treatment of arteriovenous malformations of the head and neck].

    Science.gov (United States)

    Galich, S P; Dabizha, A Iu; Gindich, O A; Ogorodnik, Ia P; Al'tman, I V; Gomoliako, I V; Guch, A A

    2015-01-01

    An arteriovenous malformation (AVM) is a vascular developmental abnormality conditioned by impaired embryonic morphogenesis and characterized by the development of an abnormal connection between arteries and veins. More than 50% of the total number of patients suffering from this pathology are those having the pathological foci localizing in the area of the head and neck. At present, a combined method is both a generally accepted and the most radical one used for treatment for AVM. However, in the majority of cases, excision of the malformation leaves an extensive and complicated defect of tissues, whose direct closure leads to coarse cicatricious deformities. Over the period from 2004 to 2012, we followed up a total of 37 patients presenting with arteriovenous malformations of the head and neck. At admission the patients underwent preoperative examination including clinical tests, ultrasound duplex scanning, arteriography, MRT, and computed tomography. 24-72 hours prior to the operative intervention the patients were subjected to embolisation of the main vessels supplying the vascular malformation. Excision of the AVM was in 8 cases followed by primary closure of the postoperative wound, in 17 patients the defect was closed by transposition of the axial flaps, and 12 subjects underwent free transplantation of composite complexes of tissues. Relapse of the disease was revealed in 17 patients. In the majority of cases, relapses developed during the first year after the operative intervention (10 cases). The control of the disease's course was obtained in 20 patients. In 8 of the 12 patients with free transplantation of flaps we managed to obtain long-term control over the disease's course (more than 5 years). Hence, free microsurgical transplantation of compound complexes of tissues may be considered as a method of choice for closing the defect after excising an AVM in the area of the head and neck. Replacement of the defect with a well-vascularized tissue complex

  3. Prenatal diagnosis of congenital renal and urinary tract malformations

    OpenAIRE

    Hindryckx, A.; De Catte, L.

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the norm...

  4. "COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS"

    Directory of Open Access Journals (Sweden)

    P. Borghei S. Abdi

    2004-08-01

    Full Text Available Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings,complications, and postoperative performance of patients with inner ear anomalies who underwent cochlear implantation. Six patients with inner ear malformations underwent implantation in our academic tertiary referral center from 1997 to 2002. The average follow-up period was 27 months. Malformations included one incomplete partition, one common cavity, one narrow internal acoustic canal (IAC in a patient with Riley-Day syndrome and 3 cases of large vestibular aqueduct. All received multi-channel implants either Nucleus 22 or Clarion device. Facial nerve was anomalous in 2 cases. CSF gusher occurred in 4 patients, which was controlled with packing the cochleostomy site. In all cases, the full length of electrode array was inserted, except one with Mondini's dysplasia where insertion failed in the first operation and was referred to another center for a successful surgery on the opposite ear. No other surgical complications were encountered. In 4 cases, all the 22 electrodes could be activated. All patients showed improved hearing performance after implantation. Four showed open-set speech recognition. The one with narrow IAC showed improved awareness to environmental sounds. In the other case (common cavity, the perception tests could not be performed because of very young age. Cochlear implantation in patients with inner ear malformations is a successful way of rehabilitation, although complications should be expected and auditory responses may be highly variable and relatively moderate.

  5. A rare case of adult diphallus with anorectal malformation

    OpenAIRE

    Sahay, Shailesh C.; P N Dogra; Rai, Pramod K.

    2012-01-01

    We present the case of a 24 year old man who presented with acute urinary retention and found to have diphallus with vertical duplication of penis. Superior phallus was well developed without any urethral meatus whereas inferior phallus was rudimentary but with patent urethra. History of erection was present in superior phallus only whereas patient was voiding urine from inferior phallus. It was associated with anorectal malformation and bilateral pelvic ectopic kidneys. Patient was managed b...

  6. Arteriovenous malformation of the mandible and parotid gland

    OpenAIRE

    Shailaja, S R; Manika,; M. Manjula; Kumar, L V

    2012-01-01

    Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the f...

  7. Endovascular Embolization of Brain Arteriovenous Malformations with Eudragit-E

    OpenAIRE

    TAMURA, Goichiro; Kato, Noriyuki; Yamazaki, Tomosato; AKUTSU, Yoshimitsu; HOSOO, Hisayuki; Kasuya, Hiromichi; Sonobe, Makoto

    2015-01-01

    Eudragit-E was originally developed as a non-adhesive liquid embolic material in the late 1990s and is a copolymer of methyl and butyl methacrylate and dimethylaminoethyl methacrylate that is dissolved in ethanol and iopamidol. This material has been used for endovascular embolization of brain arteriovenous malformations (AVMs) for some time but is currently not widely used. Because safety and feasibility of Eudragit-E has not been well documented, we here report our experience using this mat...

  8. Risk of cerebral arteriovenous malformation rupture during pregnancy and puerperium

    OpenAIRE

    Liu, Xing-ju; Wang, Shuo; Zhao, Yuan-li; Teo, Mario; Guo, Peng; Zhang, Dong; Wang, Rong; Cao, Yong; Ye, Xun; Kang, Shuai; Ji-zong ZHAO

    2014-01-01

    Objective: To determine whether the risk of arteriovenous malformation (AVM) rupture is increased during pregnancy and puerperium. Methods: Participants included 979 female patients with intracranial AVM admitted to Beijing Tiantan Hospital between 1960 and 2010. Two neurosurgery residents reviewed medical records for each case. Of them, 393 patients with ruptured AVM between 18 and 40 years of age were used for case-crossover analysis. Number of children born and clinical information during ...

  9. Evaluation of Chiari I malformation by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Magnetic resonance imaging (MRI) was performed in 22 patients with Chiari I malformation using a Toshiba MRT-15 A scanner with a 0.15 T resistive magnet. A spin-echo (SE) technique with repetition time (Tsub(r)) of 500 msec and echo time (Tsub(e)) of 40 msec was used in all cases. Syringomyelia was associated with 12 patients (55 %), and hydrocephalus was seen in 5 patients (23 %). Two patients had past histories of meningocele. Craniovertebral junction bony anomalies were present in 9 patients; pathologic conditions included 8 basilar impression, 3 occipitalization, 2 C 2-3 fusion and 1 spina bifida at C1. Scoliosis was notided in 7 out of radiologically confirmed 17 cases. Measurement of basal angles was performed on midsagittal images of MRI by Welcker method. Mean basal angles of Chiari malformation was 138 degree, and was greater than that of 56 normal results. MRI was useful in the evaluation of the ventricular size, the position of the cerebellar tonsils, the degree of compression of the upper cervical cords and the status of the spinal cord, particularly whether a syringomyelic condition exists. Without known hazard, MRI was a modality of choice for the diagnosis of the Chiari malformation. (author)

  10. Pelvic CT for the prognostic evaluation of anorectal malformation

    International Nuclear Information System (INIS)

    The anatomical patterns of anorectal malformations have so far been studied according to the principles which inspire Pena's technique for the surgical treatment of anorectal anomalies. Thus, the diagnostic study of anorectal malformation has by the authors been considered a work of classification, but of identification. Among the diagnostic procedures in use in author's Institute, preoperative CT of pelvis is performed to assess the presence and to define the development of muscular sphincteric structure towards prognostic evaluation of continence, the major long-term goal. Seven patients, aged 1-30 months, with anorectal anomalies were studied with preoperative CT of the pelvis. CT scans showed well-developed sphinteric muscles in 3 patients (2 with recto-ureteral and 1 with recto-vestibular fistulas), poorly-developed muscular structure in 3 patients (with recto-vaginal, cloacal and prostatic fistulas), absence of muscular structure in 1 case (with recto-vesical fistula). CT findings were always confirmed at surgery, except for the case with rectal-vesical malformation where CT scans did not allow to identify the thin sphinteric musculature. The authors believe preoperative CT of the pelvis, together with clinical and radiological examinations, to be a valid mean in the prognostic evaluation of continence

  11. Sonographic markers for early diagnosis of fetal malformations

    Institute of Scientific and Technical Information of China (English)

    Maria; Daniela; Renna; Paola; Pisani; Francesco; Conversano; Emanuele; Perrone; Ernesto; Casciaro; Gian; Carlo; Di; Renzo; Marco; Di; Paola; Antonio; Perrone; Sergio; Casciaro

    2013-01-01

    Fetal malformations are very frequent in industrialized countries.Although advanced maternal age may affect pregnancy outcome adversely,80%-90%of fetal malformations occur in the absence of a specific risk factor for parents.The only effective approach for prenatal screening is currently represented by an ultrasound scan.However,ultrasound methods present two important limitations:the substantial absence of quantitative parameters and the dependence on the sonographer experience.In recent years,together with the improvement in transducer technology,quantitative and objective sonographic markers highly predictive of fetal malformations have been developed.These markers can be detected at early gestation(11-14 wk)and generally are not pathological in themselves but have an increased incidence in abnormal fetuses.Thus,prenatal ultrasonography during the second trimester of gestation provides a"genetic sonogram",including,for instance,nuchal translucency,short humeral length,echogenic bowel,echogenic intracardiac focus and choroid plexus cyst,that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%.Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies.In the future,sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis(amniocentesis,etc.).

  12. Cerebral cavernous malformations: from genes to proteins to disease.

    Science.gov (United States)

    Cavalcanti, Daniel D; Kalani, M Yashar S; Martirosyan, Nikolay L; Eales, Justin; Spetzler, Robert F; Preul, Mark C

    2012-01-01

    Over the past half century molecular biology has led to great advances in our understanding of angio- and vasculogenesis and in the treatment of malformations resulting from these processes gone awry. Given their sporadic and familial distribution, their developmental and pathological link to capillary telangiectasias, and their observed chromosomal abnormalities, cerebral cavernous malformations (CCMs) are regarded as akin to cancerous growths. Although the exact pathological mechanisms involved in the formation of CCMs are still not well understood, the identification of 3 genetic loci has begun to shed light on key developmental pathways involved in CCM pathogenesis. Cavernous malformations can occur sporadically or in an autosomal dominant fashion. Familial forms of CCMs have been attributed to mutations at 3 different loci implicated in regulating important processes such as proliferation and differentiation of angiogenic precursors and members of the apoptotic machinery. These processes are important for the generation, maintenance, and pruning of every vessel in the body. In this review the authors highlight the latest discoveries pertaining to the molecular genetics of CCMs, highlighting potential new therapeutic targets for the treatment of these lesions. PMID:21962164

  13. PREGNANCY AND ITS OUTCOME IN WOMEN WITH MALFORMED UTERUS

    Institute of Scientific and Technical Information of China (English)

    马水清; 边旭明; 郎景和

    2002-01-01

    Objective. To analyze the clinical characteristics of fertility and pregnancy in women with congenital uterine malformations and explore optimal treatments to improve the prognosis.Methods. A retrospective study was conducted on the fertility and obstetric outcome in 153 patients with uterine malformations treated in our hospital from January 1984 to December 1998. Twenty - seven cases with other kinds of genital and/or urinary anomalies but with normal uterus during the same period were enrolled as the control group.Results. The infertility rate was 26.6% (34/128), the miscarriage rate 44.3% (86/194), premature birth rate 9.3% (18/194), abnormal fetal presentation rate 28.4% (29/102), the cesarean section rate 61.8% (63/102), and the perinatal mortality rate 11.8% (12/102).Conclusion. Women with congenital uterine malformation usually have higher incidence of infertility and complications during pregnancy and delivery. Bicornuate and septate uterus can be associated with poor obstetric outcome.

  14. Loop Modeling Forward and Feedback Analysis in Cerebral Arteriovenous Malformation

    Directory of Open Access Journals (Sweden)

    Y. Kiran Kumar

    2013-01-01

    Full Text Available Cerebral Arteriovenous Malformation (CAVM hemodynamic in disease condition results changes in the flow and pressure level in blood vessels. Cerebral Arteriovenous Malformation (CAVM is an abnormal shunting of vessels between arteries and veins. It is one of the common Brain disorder. In general, the blood flows of cerebral region are from arteries to veins through capillary bed. This paper is focus on the creation of a new electrical model for spiral loop structures that will simulate the pressure at various locations of the CAVM Complex blood vessels. The proposed model helps Doctors to take diagnostic and treatment planning for treatment by non-invasive measurement.. This can cause rupture or decreased blood supply to the tissue through capillary causing infarct. Measuring flow and pressure without intervention along the vessel is big challenge due to loop structures of feedback and forward flows in Arteriovenous Malformation patients. In this paper, we proposed a lumped model for the spiral loop in CAVM Structures that will help doctors to find the pressure and velocity measurements non-invasively.

  15. Chiari malformation type I: a new MRI classification.

    Science.gov (United States)

    Amer, T A; el-Shmam, O M

    1997-01-01

    Thirty patients with Chiari I malformation were examined by MRI over 2-year period. All patients underwent MRI scan before and after surgical decompression of the posterior fossa. Images of the craniocervical junction confirmed tonsillar herniation in all cases and allowed the definition of two anatomically distinct types of Chiari malformation. Twenty-one of the 30 patients (70%) had concomitant syringomyelia and were classified as type A, while the remaining 9 patients (30%) had evidence of frank herniation of the cerebellar tonsils below the foramen magnum without evidence of syringomyelia and were labeled type B. Type A patients had a predominant central cord symptomatology; type B patients exhibited signs and symptoms of brain stem or cerebellar compression. The concomitant cord cavitary lesions (syringomyelia) were noncommunicating (isolated syrinxes), which were separated from the fourth ventricle by a syrinx-free segment of normal spinal cord. Holocord hydromyelic cavities were seen in 8 out of 21 patients with syringomyelia, isolated cervical cavities were seen in 4 patients, while combined cervical and thoracic cavities were seen in 9 patients. Kinking of the medullocervical junction and brain stem was seen in 20 out of 30 patients (67%). MRI has proved to be an excellent, noninvasive means of studying of the craniocervical anatomy; it has allowed a classification of Chiari malformation based on objective anatomic criteria with prognostic and clinical relevance. PMID:9223040

  16. Volume measurement of cerebral arteriovenous malformations from angiography

    International Nuclear Information System (INIS)

    We designed software for measuring the volume of cerebral arteriovenous malformations from angiography and validated it against prescription volumes in radiosurgery. We aimed to create a model for the risk for complications as a function of volume, based on established outcome prediction models for Gamma Knife trademark radiosurgery, but without the need for dose planning. We created an application for computing the volume of cerebral arteriovenous malformations from the intersection of two X-ray cones in stereotactic space. Volume measurements were compared with prescription volumes from dose planning, in phantoms and in patients treated with Gamma Knife trademark radiosurgery for cerebral arteriovenous malformations. Previous studies of 1128 treated patients were used to calculate the risk for complication as a function of the nidus volume. In 63 patients volumes measured with either method correlated, R2 = 0.85. Volume as measured with the intersecting cone model (ICM) correlated with predicted Gamma Knife trademark radiosurgery complication rate, R2 = 0.84. The ICM can thus be used for measurement of AVM volumes less than 10 cm3 from angiography. Outcome models from Gamma Knife trademark radiosurgery may be applied, but with reduced exactness. Standardised AVM volume measurement is valuable for comparing outcome and for quantification of volume reduction after therapy, notably embolisation. Thus the optimal management plan may be selected in conjunction with diagnostic or therapeutic angiography. (orig.)

  17. Percutaneous sclerotherapy for venous malformations using polidocanol under fluoroscopy.

    Directory of Open Access Journals (Sweden)

    Mimura H

    2003-10-01

    Full Text Available This retrospective study evaluated the safety and efficacy of using polidocanol with X-ray fluoroscopy for percutaneous sclerotherapy of venous malformations of the limbs, head, and neck. The subjects were 16 of 18 patients who presented to our department with venous malformations. Two patients were excluded because they were unlikely to benefit from the treatment. Of the 16 included in the study, 1 could not be treated because of inaccessibility, and another was lost to follow-up. Among the 14 cases that we were able to follow-up, 11 cases had had pain as their primary symptom. Following treatment, this symptom remained unchanged in 1 patient, was improved in 4, and had disappeared in 6; however, there was a recurrence of pain for 3 of these patients. Two patients had sought treatment for cosmetic purposes; following treatment, the lesion disappeared in one and showed a significant reduction in the other. The remaining patient presented with a primary symptom of mouth bleeding, which disappeared following treatment. There were no critical complications. Percutaneous sclerotherapy of venous malformations using polidocanol is safe and effective, and permits repeat treatments. The efficacy is especially good for resolving pain, and complications are minor. It is desirable to use fluoroscopy for these procedures

  18. Fetal magnetic resonance imaging. Diagnostics in cases of congenital cystadenomatoid malformation; Fetale Magnetresonanztomographie. Diagnostik bei zystadenomatoider Malformation der Lunge (CCAM)

    Energy Technology Data Exchange (ETDEWEB)

    Buesing, K.A.; Kilian, A.K.; Neff, K.W. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Institut fuer Klinische Radiologie, Universitaetsklinikum Mannheim, Mannheim (Germany); Schaible, T. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Kinderklinik, Universitaetsklinikum Mannheim, Mannheim (Germany)

    2006-02-15

    Despite advancing therapeutic strategies, congenital cystadenomatoid malformation of the fetal lung is still a potentially life-threatening anomaly. Antenatally, the development of hydrops as well as the natural history of the malformation is of particular therapeutic and prognostic importance. Postnatally, respiratory distress due to pulmonary hypoplasia counts as a crucial limiting factor. Owing to its feasibility and practicability, as well as a high sensitivity, antenatal ultrasound is still the screening method of choice for the detection of fetal thoracic malformations. However, particularly in cases of indistinguishable sonographic findings, fetal MRI is the modality of choice for proving the diagnosis and preliminary appraisal of intensive care therapy and extracorporal membrane oxygenation postnatally. Furthermore, fetal MRI often facilitates assessment and planning of intrauterine surgical procedures. These two features frequently require a close transfer to an expert neonatal centre. (orig.) [German] Trotz verbesserter Therapien stellt die kongenitale zystadenomatoide Malformation der Lunge fuer den Feten weiterhin eine potenziell lebensbedrohliche Missbildung dar. Praenatal sind insbesondere ein Hydrops fetalis sowie der Spontanverlauf von prognostischer und therapeutischer Relevanz. Postnatal kommt der Lungenhypoplasie eine entscheidende Bedeutung zu. Aufgrund der hohen Verfuegbarkeit und Sensitivitaet bleibt die Primaerdiagnostik weiterhin dem Ultraschall vorbehalten. Die fetale MRT hingegen hat sich insbesondere bei unklarer sonographischer Befundlage als Methode der Wahl etabliert. Neben der Diagnosesicherung erleichtert sie durch eine uebersichtliche Darstellung der Befundausdehnung haeufig die Abschaetzung einer postnatalen Intensivtherapie. Mit zunehmender Erfahrung beim Einsatz fetalchirurgischer Verfahren kommt ihr ferner eine wachsende Bedeutung in der Indikationsstellung und Planung praenataler Therapien zu. Beides erfordert u. U. die

  19. Histopathological study of congenital aortic valve malformations in 32 children

    Institute of Scientific and Technical Information of China (English)

    HUANG Ping; WANG Hongwei; LI Yanping; CHENG Peixuan; LIU Qingjun; ZHANG Zhenlu; LIU Jianying

    2007-01-01

    The histopathological characteristics of congenital aortic valve malformations in children were investigated.All the native surgically excised aortic valves from 32 pediatric patients suffering from symptomatic aortic valve dysfunction due to congenital aortic valve malformations between January 2003 and December 2005 were studied macroscopically and microscopically.The patients' medical records were reviewed and the clinical information was extracted.The diagnosis was made by the clinical presentation,preoperative echocardiography,intraoperative examination,and postoperative histopathological study,excluding rheumatic ot degenerative aortic valve diseases,infective endocarditis and primary connective tissue disorders,e.g.Marfan syndrome.Among 32 children with congenital aortic valve malformations,the age was ranged from six to 18 years,with a mean of 14.9 years,and there were 27 boys and five girls (male:female = 5.4:1).There were five cases of aortic stenosis (AS,15.62%),25 cases of aortic insufficiency (AI,78.13 %)and two cases of AS-AI (6.25%),without other valve diseases.Twenty cases still had other congenital heart diseases:ventricular septal defect (19 cases),patent ductus arteriosus (two cases),double-chambered right ventricle (one case),aneurysm of the right anterior aortic sinus of valsalva (three cases).Histopathological examination indicated that the cusps became thickening with unequal size,irregular shape (coiling and prolapse edge),enhanced hardness,and partly calcification.Microscopic investigation revealed the unsharp structure of valve tissue,fibrosis,myxomatous,reduced collagen fiber,rupture of elastic fibers,different degrees of infiltration of inflammatory cells,secondary calcareous and lipid deposit,and secondary fibrosis.Congenital aortic valve malformations in children involve males more than females,mostly associated with other congenital heart diseases.Aortic insufficiency is more common in children with congenital aortic valve

  20. Head and neck vascular malformations: time-resolved MR projection angiography

    Energy Technology Data Exchange (ETDEWEB)

    Ziyeh, S.; Schumacher, M.; Hochmuth, A.; Klisch, J. [Section of Neuroradiology, Department of Neurosurgery, University of Freiburg (Germany); Strecker, R. [Section of Medical Physics, Department of Radiology, University of Freiburg (Germany); Roessler, J. [Department of Paediatric Haematology and Oncology, University of Freiburg (Germany)

    2003-10-01

    Extracranial vascular anomalies can be divided into haemangiomas and vascular malformations. The latter can be subdivided on the basis of the predominant type of vascular channels. Separation of high- and low-flow vascular malformations is of clinical importance. We report preliminary observations on time-resolved magnetic resonance projection angiography (MRPA) of vascular malformations of the head and neck. We examined eight patients with vascular anomalies of the head and neck. On MRPA the time between the early arterial phase and enhancement of the malformation could be used to distinguish high- and low-flow lesions. High-flow arteriovenous malformations showed early, intense enhancement. Venous malformations were either not visible on MRPA or showed late enhancement of veins. One patient was examined after embolisation of an arteriovenous fistula of the mandible. Normal MRPA was taken to indicate absence of a residual lesion. (orig.)

  1. Antennal malformations in light ocelli drones of Apis mellifera (Hymenoptera, Apidae

    Directory of Open Access Journals (Sweden)

    CHAUD-NETTO J.

    2000-01-01

    Full Text Available Malformed antennae of Apis mellifera light ocelli drones were drawn, dissected and mounted permanently on slides containing Canada balsam, in order to count the olfactory discs present in each segment, in comparison with the number of those structures in normal antennae of their brothers. Some drones presented morphological abnormalities in a single segment of the right or left antenna, but others had two or more malformed segments in a same antenna. Drones with malformations in both antennae were also observed. The 4th and 5th flagellum segments were the most frequently affected. In a low number of cases the frequency of olfactory discs in malformed segments did not differ from that one recorded for normal segments. However, in most cases studied, the antennal malformations brought about a significant reduction in the number of olfactory discs from malformed segments.

  2. Brain arteriovenous malformations : from imaging technique improvement toward treatment paradigm shift

    OpenAIRE

    Clarençon, Frédéric

    2014-01-01

    Brain arteriovenous malformations (bAVMs) are aggressive vascular malformations presenting a haemorrhagic complication risk that may lead to severe consequences in terms of morbi-­‐mortality. Available imaging tools poorly help in understanding their angio-­‐architecture. We have developed two imaging tools improving our understanding of the anatomy of these malformations: a semi-­‐automated segmentation algorithm and a convex spherical anamorphosis algorithm. These algorithms have been elabo...

  3. Autism Spectrum Disorder and Chiari 1 Malformation Co-occurring in a Child.

    Science.gov (United States)

    Osuagwu, Ferdnand C; Amalraj, Benedict; Noveloso, Bernard D; Aikoye, Salisu A; Bradley, Ronald

    2016-04-01

    Very few studies have shown associations between autism spectrum disorder, attention deficit hyperactivity disorder and Chiari 1 malformation. Here, we report an 10-year-old male that presented after having seizures with a history of Chiari 1 malformation, autism spectrum disorder and ADHD with moderate mental retardation and speech delay. This case highlights the fact that autism spectrum disorder as biologically based neurodevelopmental disorder with altered brain growth may be associated with Chiari 1 malformation and ADHD. PMID:27050897

  4. Primary intra osseous venous malformation of nasal bone: A rare case report

    OpenAIRE

    Ajit Kumar Pati; Bibhuti Bhusan Nayak; Arun Kumar Choudhury; Debesh Kumar Rout

    2014-01-01

    Primary intra osseous venous malformation with involvement of nasal bone is a rare phenomenon. Nasal bone intraosseous venous malformation on a back ground of port wine stain of face has not been reported in the available literature. We report the very rare case of intraosseous venous malformation of left nasal bone developing on a background of port wine stain of face, its diagnosis, pathology, management and review of literature.

  5. A Parsing Mode based Method for Malformed SIP Messages Testing for IMS Network

    OpenAIRE

    Yulong Wang; Dong Wang; Lei Wang

    2013-01-01

    IMS(IP Multimedia Subsystem) network uses SIP (Session Initiation Protocol) as its core control protocol. The defensive ability of the malformed SIP message is particularly important for IMS network security. In this paper, we propose a malformed SIP generation method based on SIP parsing mode and the associated attack testing method. Based on SIP parsing mode of functional entities in IMS, we generate effective malformed SIP messages, which then be used to perform attacking test to IMS funct...

  6. The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child

    International Nuclear Information System (INIS)

    Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented

  7. Primary intra osseous venous malformation of nasal bone: A rare case report

    Directory of Open Access Journals (Sweden)

    Ajit Kumar Pati

    2014-01-01

    Full Text Available Primary intra osseous venous malformation with involvement of nasal bone is a rare phenomenon. Nasal bone intraosseous venous malformation on a back ground of port wine stain of face has not been reported in the available literature. We report the very rare case of intraosseous venous malformation of left nasal bone developing on a background of port wine stain of face, its diagnosis, pathology, management and review of literature.

  8. A Rare Case of Incidental Pancreatic Arteriovenous Malformation Correctly Diagnosed with MDCT

    Directory of Open Access Journals (Sweden)

    Elizabeth R Lusczek

    2013-03-01

    Full Text Available Context Pancreatic arteriovenous malformations are a rare entity that can be incidentally discovered during MDCT examinations. Case report We describe a rare case of asymptomatic arteriovenous malformation presenting at MDCT as a hypervascular mass in the pancreatic head. Conclusion Pancreatic arteriovenous malformations are a rare entity, often asymptomatic, that can be correctly diagnosed by MDCT, especially with the use of specific electronic reconstructions.

  9. Emergency hepatectomy for hepatic arteriovenous malformation combined with pulmonary hypertension in an infant

    Directory of Open Access Journals (Sweden)

    Naruhiko Murase

    2015-12-01

    Full Text Available Patients with hepatic arteriovenous malformations rarely present with pulmonary hypertension. We report the case of a 3-month-old boy who developed severe pulmonary hypertension due to a hepatic arteriovenous malformation. The use of pulmonary vasodilators to treat the patient's pulmonary hypertension worsened his high-output heart failure. This is the first case in which emergency hepatectomy rescued a patient with hepatic arteriovenous malformations who developed pulmonary hypertension.

  10. Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations: a nationwide cohort study

    OpenAIRE

    Jimenez-Solem, Espen; Andersen, Jon Traerup; Petersen, Morten; Broedbaek, Kasper; Jensen, Jonas Krogh; Afzal, Shoaib; Gislason, Gunnar H.; Torp-Pedersen, Christian; Poulsen, Henrik Enghusen

    2012-01-01

    Objectives To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. Design Register-based retrospective nationwide cohort study, using the Danish Medical Birth Registry. Setting Denmark. Participants Pregnant women in Denmark between 1997 and 2009 and their offspring. Primary outcome measures For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic re...

  11. Trematode infection causes malformations and population effects in a declining New Zealand fish.

    Science.gov (United States)

    Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

    2010-03-01

    1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered. PMID:19886894

  12. Urinary lithiasis and urinary tract malformations in children: A retrospective study of 34 cases

    Directory of Open Access Journals (Sweden)

    Jamila Chahed

    2011-01-01

    Full Text Available Background: Although the association of urinary lithiasis and urinary tract malformation is not rare, their management poses challenges. The aim of this study was to evaluate the relationship between urolithiasis and malformations of the urinary system. There were 34 patients (19 males and 15 females with a mean age of 4.8 years (range, 2 months to 14 years. All patients had urinary lithiasis with a urinary tract malformation. Abdominal pain was the most frequent clinical symptom (38%. Urinary infection was found in 7 patients (21% and macroscopic haematuria was present in 10 patients (29%. The most frequent urinary tract malformations were megaureter (8 cases, uretero-pelvic junction obstruction (7 cases and vesico-ureteric reflux (8 cases, but its malformative origin could not be confirmed. Treatment consisted of lithiasis extraction in 32 cases associated with specific treatment of the uropathy in 27 cases. Postoperative outcome was uneventful in all cases. In fact, urinary lithiasis and urinary tract malformation association is not rare. Indeed, 9-34% of urinary lithiasis are noted to be associated with urinary tract malformation. Positive diagnosis relies specifically on kidney ultrasound, intravenous urography, and urethrocystography. Treatment depends on the type of urinary tract malformation, localisation and size of the urinary lithiasis. Conclusion: In conclusion, urinary lithiasis and urinary tract malformation association is a frequent eventuality. Surgical intervention is the usual mode of treatment.

  13. Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

    Energy Technology Data Exchange (ETDEWEB)

    Olow-Nordenram, M.A.K.; Raadberg, C.T.

    1984-01-01

    Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.

  14. Posterior Fossa Decompression with Duraplasty in Chiari-1 Malformations

    International Nuclear Information System (INIS)

    Objective: To evaluate the symptomatic outcome after PFD (Posterior Fossa Decompression) with duraplasty in Chiari-1 malformations. Study Design: Case series. Place and Duration of Study: Department of Neurosurgery, JPMC, Karachi, from July 2008 to September 2012. Methodology: This included 21 patients of Chiari 1 malformations admitted in department through OPD with clinical features of headache, neck pain, numbness, neurological deficit, and syringomyelia. Diagnosis was confirmed by MRI. PFD followed by C1 laminectomy with duraplasty was done in all cases and symptomatic outcome was assessed in follow-up clinic. Results: Among 21 patients, 13 were females and 8 were males. Age ranged from 18 to 40 years. All the patients had neck pain and numbness in hands. Only 3 patients had weakness of all four limbs and 12 with weakness of hands. Symptoms evolved over a mean of 12 months. Syringomyelia was present in all cases. All patients underwent posterior fossa decompression with duraplasty with an additional C1 laminectomy and in 2 cases C2 laminectomy was done. Syringo-subarachnoid shunt was placed in one patient and ventriculo-peritoneal shunt was placed in 2 patients. Pain was relieved in all cases. Weakness was improved in all cases and numbness was improved in 19 cases. Syringomyelia was improved in all cases. Postoperative complications included CSF leak in 2 patients and wound infection in one patient. However, there was no mortality. Conclusion: Posterior fossa decompression with duraplasty is the best treatment option for Chiari-1 malformations because of symptomatic improvement and less chances of complications. (author)

  15. Prevalence of congenital malformation in newborns of the public hospital

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    Aritana Pereira Ramos

    2008-01-01

    Full Text Available The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the fact-gathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn and bad-congenital formation. The results show predominance of 3.1% of born infants been with evil-congenital formation. Among these, it prevailed the of the male sex (64,0%, premature (56,7% of normal birth (56,7%, with adequate weight (70,0%, classified in the majority of isolated form (76,7%, of smaller clinical importance (63,0% and evolving for high hospital with 60.0% of the cases; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system, however this pathology next to of the osteomuscular system. The majority of the mothers had between 17 and 24 years (46,7%, carried out more of seven consults prenatal (30,0% and live in the urban zone of the town (60,0%; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system. Those finds are compatible with others finds described in the Brazilian scientific literature, what is going to reflect about the implementation of public politics with infrastructure qualified service implementation in the perspective of prevention, detection and cares of those individuals in all of the levels of the net of health.

  16. Type I Chiari malformation presenting with laryngomalacia and dysphagia.

    Science.gov (United States)

    Liu, Christopher; Ulualp, Seckin O

    2015-08-01

    We describe clinical features of an infant with laryngomalacia and dysphagia caused by type I Chiari malformation (CM-I). A 12-month-old child presented with a 6 month history of progressive stridor, dysphagia, and gastroesophageal reflux. Examination of the airway and swallowing function indicated mild laryngomalacia and aspiration with all consistencies. Magnetic resonance imaging of the brain indicated CM-I. Symptoms were resolved after posterior fossa decompression. CM-I, typically diagnosed later in life, should be considered in the differential diagnosis of laryngomalacia and dysphagia. High clinical suspicion and thorough search for abnormalities ensure early diagnosis and proper management of children with neurologic variant laryngomalacia. PMID:26031456

  17. Presentation of occult Chiari I malformation following spinal anesthesia

    Directory of Open Access Journals (Sweden)

    Saravanan P Ankichetty

    2012-01-01

    Full Text Available Chiari I malformation (CM-I manifests with tonsillar herniation below foramen magnum. These patients are at high risk of respiratory depression and bulbar dysfunction in the perioperative period with underlying obstructive sleep apnea. However, the safe use of both general and regional anaesthesia has been documented in a known CM-I parturients. We describe the successful management of a patient who had hypercapnic respiratory failure in the post-anaesthetic care unit following an uneventful subarachnoid block for left knee replacement surgery. This patient was retrospectively diagnosed with occult CM-I and moderate to severe obstructive sleep apnea in the postoperative period.

  18. The anterior interhemispheric approach to a third ventricular cavernous malformation.

    Science.gov (United States)

    Martirosyan, Nikolay L; Kalani, M Yashar S; Nakaji, Peter; Spetzler, Robert F

    2016-01-01

    The anterior interhemispheric approach is a workhorse for treatment of lesions in the third ventricle. In this case, we demonstrate the utility of this approach for resecting a complex third ventricular cavernous malformation. We discuss patient positioning, optimal location of the craniotomy, and surgical resection techniques for safe removal of these lesions. We also demonstrate the importance of gravity retraction using the falx to prevent injury to the dominant frontal lobe. The video can be found here: https://youtu.be/38woc28er7M . PMID:26722693

  19. Antenatal diagnosis of cystic adenomatoid malformation: Effect on patient management

    Energy Technology Data Exchange (ETDEWEB)

    Claiborne, A.K.; McAlister, W.H.; Martin, C.M.; Gast, M.J.

    1985-07-01

    Congenital adenomatoid malformation (CAM) of the lung was diagnosed at 30 weeks gestation. The mother presented with preterm labor and polyhydramnios. A complex cystic mass was seen in the right lung of the fetus. Additional radiographic and sonographic investigations prior to delivery allowed differentiation of this rare lesion from other cystic thoracic pathology of the fetal period. Careful hospital obstetric management of the mother and fetus for over 3 weeks allowed the delivery of an infant with adequate pulmonary maturity to permit stabilization and surgery on the baby in the first days of life.

  20. Antenatal diagnosis of cystic adenomatoid malformation: Effect on patient management

    International Nuclear Information System (INIS)

    Congenital adenomatoid malformation (CAM) of the lung was diagnosed at 30 weeks gestation. The mother presented with preterm labor and polyhydramnios. A complex cystic mass was seen in the right lung of the fetus. Additional radiographic and sonographic investigations prior to delivery allowed differentiation of this rare lesion from other cystic thoracic pathology of the fetal period. Careful hospital obstetric management of the mother and fetus for over 3 weeks allowed the delivery of an infant with adequate pulmonary maturity to permit stabilization and surgery on the baby in the first days of life. (orig.)

  1. Classical Triad in Pulmonary Arteriovenous Malformation: Clubbing, Cyanosis and Policytemia

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    Hikmet Tekin Nacaroğlu

    2013-08-01

    Full Text Available Pulmonary arteriovenous malformations (PAVM are generally congenital lesions that results from an abnormal capillary development. Lesions can be presented as an isolated single anomaly, or may be multiple when accompanying with autosomal dominant hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome; ROWS. These cases may be asymptomatic, but exertional dyspnea, palpitations and easy fatigability may also be seen. The classic radiological appearance is a round, well-circumscribed lesions. Computed tomography of thorax and angiography are also useful for diagnosis. Herein, we present 2 and 13 years old girls with the diagnosis of PAVM with clubbing and cyanosis. (Journal of Current Pediatrics 2013;11:92-5

  2. [The mother figure of children with malformations. A phenomenological study].

    Science.gov (United States)

    Pinheiro, M C

    1997-01-01

    The theme of this research refers to children suffering congenital malformation through an analysis of their mothers' reactions in dealing with such a situation. It deals with a descriptive study along the qualitative line through the phenomenological approach. In order to attain that purpose, interviews were made and data collected. The analysis was built under the view of meaning, the orientation of those mothers, i.e. the outlook of the world from their perspective, which was tracked from the meanings (units of meaning) to actual sense based on the philosophical insight of Dr. Martin Heidegger, aiming at characterizing the mother-being in her daily life. PMID:9775933

  3. Is cerebral cavernous malformation a pre-glioma lesion?

    Institute of Scientific and Technical Information of China (English)

    ZHANG Ji-yang; MING Zong-yi; WU An-hua

    2012-01-01

    Glioma is the most malignant tumor in the brain,the origin of glioma is still unknown.Recently some papers indicated that glioma may be developed from cerebral cavernous malformation (CCM).We describe a man with a right temporal lobe CCM,after gamma-knife radiotherapy,the patient developed a low-grade astrocytoma in the area of the preexistent CCM.This case,together with other reports,may indicated an oncogenetic properties of CCM,and we proposed that CCM may be a pre-glioma lesion.

  4. A complex communicating bronchopulmonary foregut malformation: diagnostic imaging and pathogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Sumner, T.E.; Auringer, S.T.; Cox, T.D. [Department of Radiology, Bowman Gray School of Medicine, Wake Forest University, Medical Center Boulevard, Winston-Salem, NC 27157-1088 (United States)

    1997-10-01

    We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung. (orig.). With 1 fig.

  5. Malformations of cortical development:3T magnetic resonance imaging features

    Institute of Scientific and Technical Information of China (English)

    Bilal; Battal; Selami; Ince; Veysel; Akgun; Murat; Kocaoglu; Emrah; Ozcan; Mustafa; Tasar

    2015-01-01

    Malformation of cortical development(MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images.

  6. Expression of angiogenic factors in cerebral arteriovenous malformations

    Institute of Scientific and Technical Information of China (English)

    Mingguang Zhao; Youli Chen; Zhenquan Song; Yongzhong Gao; Peiyu Pu; Xuezhong Wei

    2007-01-01

    BACKGROUND: In the process of vascularization, vascular endothelial growth factor (VEGF),angiopoietin-2 and Tie2 are involved in the migration, differentiation and proliferation of vascular endothelial cells, and stimulate the rapid angiogenesis; Tie1 and angiopoietin-1 play important roles in facilitating the formation of vascular lumen and maintaining the integrity of vascular wall. Thus the distributions and expressions may be associated with the occurrence of cerebral arteriovenous malformation.OBJECTIVE: To observe the biological effects of angiogenic factors in the occurrence and development of cerebral arteriovenous malformation.DESIGN: An observational comparative experiment.SETTINGS: Department of Neurosurgery, General Hospital of Shenyang Military Area Command of Chinese PLA; Department of Neurosurgery, General Hospital of Tianjin Medical University.PARTICIPANTS: Fresh samples of complete cerebral arteriovenous malformations resected in 47 patients were collected from the Department of Neurosurgery, General Hospital of Tianjin Medical University from August 1999 to May 2001, including 22 males and 25 females, the mean age was 34.5 years. Informed consents were obtained from all the patients or their relatives. The initial symptom was hemorrhage in 28 cases. All the patients were classified according to the clinical imaging data and Spetzler-Martin grading standard, including 11 cases of grade Ⅰ , 17 cases of grade Ⅱ, 11 cases of grade Ⅲ, and 8 cases of grade Ⅳ - Ⅴ. Normal brain tissues resected by decompression due to trauma were taken from 8 patients as controls, including 5 males and 3 females, aging 12 - 65 years.METHODS: ① The expressions of VEGF, Tie receptors, angiopoietin-1, angiopoietin-2, proto-oncogene c-myc and proliferating cell nuclear antigen(PCNA) in the samples of cerebral arteriovenous malformation were detected with immunohistochemical method. Under light microscope, the positively stained rat-anti-human factor

  7. Contribuição ao estudo das malformações occipito-cervical, particularmente da impressão basilar

    Directory of Open Access Journals (Sweden)

    Horacio M. Canelas

    1952-12-01

    Full Text Available The authors outline the development of the spine and skull, particularly of axis, atlas and occipital bone. As neuro-skeletal dysmorphisms, the occipito-cervical malformations belong to the neurodysplastic group. They are classified as skeletal anomalies, associated nervous malformations and meningeal reactions. Vertebralization of the occipital bone and occipitalization of atlas, subluxation of odontoid process, dysplasia of the occipital bone, dystrophia brevicollis and other anomalies are discussed. Special care is given to the study of basilar impression; its concept, history, incidence, clinical and neurological symptoms, radiological characterization (craniographic, perimyelographic and iodoventriculographic aspects and surgical treatment are reviewed. The authors report five cases of occipito-cervical malformations, which are the first references in Brazilian literature. In case 1 the anomalies (manifestation of occipital vertebra and Arnold-Chiari deformity were disclosed at an operation for cisticercosis of the posterior fossa. In the following four cases invagination of the basilar portion of the occipital bone (basilar impression could be radiologically demonstrated; in case 2 a suboccipital craniectomy and a laminectomy of atlas and axis were performed but the patient died a week later and the necroscopic examination confirmed the neuro-skeletal anomalies. In all cases there were several associated malformations. In case 2 there were occipitalization of the atlas, fusion of the first and second cervical vertebrae, supernumerary rib of the seventh cervical vertebra, supernumerary lumbar vertebra, and Arnold-Chiari deformity; at necropsy it was found a syringomyelic cyst on the cervical cord and a fibrous dural ring over the foramen magnum. Case 3 showed the syndrome of Klippel-Feil, besides supernumerary ribs of the seventh cervical and first dorsal vertebrae, Arnold-Chiari malfotmation and probable aplasia of cell groups in the

  8. Selective arterial and venous MR angiography of intracranial arteriovenous malformations

    International Nuclear Information System (INIS)

    This study evaluates the usefulness of MR angiography (MRA) in analysing cerebral arterial blood supply and venous drainage in patients with intracranial arteriovenous malformations (AVM). Selective MRA of the carotid, middle cerebral or vertebrobasilar territories was performed by means of presaturation of up to three of the brain-supplying arteries at the level of the middle or lower neck (angled presaturation slabs). Results obtained with selective, non-selective arterial, as well as venous MRA in 13 consecutive patients were compared with the findings at intraarterial angiography, the latter serving as the 'gold standard'. Sensitivity in identifying major feeding arteries was 100%. Determination of the absolute and relative AVM sizes at selective MRA corresponded with IAA. The mean difference was 17.6 and 3.9% respectively. Both display of superficial and deep venous drainage was provided by 2-dimensional venous MRA. The authors conclude that selective MRA of cerebral arteries as used here is a powerful non-invasive method to demonstrate blood supply by single feeding vessels in intracranial malformations. 2D venous MRA permits an accurate evaluation of the venous drainage pattern. (orig.)

  9. Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

    Science.gov (United States)

    Pelizzo, Gloria; Costanzo, Federico; Andreatta, Erika; Calcaterra, Valeria

    2016-08-01

    Congenital pulmonary airway malformations (CPAMs) include cystic and non-cystic lung lesions. These represent about 30-40% of developmental lung bud anomaly lesions mainly diagnosed during pregnancy or in newborn infants; or sometimes they remain undetected until adult life. The malformation usually presents as a sporadic, non-hereditary lung abnormality, with no predilection for the right or left lung, sex or race. CPAMs vary in their histological features, epidemiological and clinical presentation, severity and prognosis, supporting the embryologic hypothesis of arrested lung growth during branching morphogenesis. The existence of "hybrid" forms underline the possible common pathogenic mechanism involved in the development of different lesion types; a genetic role has also been proposed in abnormal lung development. Influence of the natural history on pre and postnatal management is relevant. Surgical resection is the standard of therapy for symptomatic CPAMs, while the management of asymptomatic cases remains controversial. The potential risk of infection and malignancy in CPAMs justifies complete surgical resection in the first year of life; while long term follow-up is required in children who do not undergo surgery. A multidisciplinary team including gynecologists, neonatologists, radiologists, pediatricians and pediatric surgeons is recommended in pre, postnatal management and in the postsurgical follow-up of all children with CPAMs. PMID:26365821

  10. CHARGE association in Sweden: malformations and functional deficits.

    Science.gov (United States)

    Strömland, Kerstin; Sjögreen, Lotta; Johansson, Maria; Ekman Joelsson, Britt-Marie; Miller, Marilyn; Danielsson, Susanna; Billstedt, Eva; Gillberg, Christopher; Jacobsson, Catharina; Norinder, Jan Andersson; Granström, Gösta

    2005-03-15

    CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. PMID:15633180

  11. Ethanol Embolotherapy of Pelvic Arteriovenous Malformations: an Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Bae, Soo Ho; Do, Young Soo; Shin, Sung Wook; Park, Kwang Bo; Kim, Dong Ik; Kim, Young Wook; Cho, Sung Ki; Choo, Sung Wook; Choo, In Wook [Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2008-04-15

    Objective : We retrospectively assessed the results of performing ethanol embolization for pelvis arteriovenous malformations (AVMs). Materials and Methods : During the past 10 years, eight patients (8 females, age range: 27-52 years) with AVMs in the pelvic wall (n = 3) and uterus (n = 5) underwent staged ethanol embolizations (range: 1-5, mean: 2.5) under general anesthesia. Ethanol embolization was performed by the use of the transcatheter and/or direct puncture techniques. Clinical follow-up was performed for all of the patients, and imaging follow-up was available for seven patients. The therapeutic outcomes were established by evaluating the clinical outcome of the signs and symptoms, as well as the degree of devascularization observed on post-procedural angiography. Result : During the 20 sessions of ethanol embolization, the solitary transarterial approach was used 14 times, the transvenous approach was used three times and direct puncture was used once. For two patients, the transarterial and transvenous or direct puncture approaches were used together in one session. For four patients, ethanol and coils were used as embolic agents, and n-butyl cyanoacrylate (NBCA) and ethanol were used in one patient. Seven (88%) of eight patients were cured of their AVMs and one patient (12%) displayed improvement. Major complications were seen in two patients (25%). Conclusion : Ethanol embolization is effective for the treatment of pelvic arteriovenous malformations, though there is a chance of a major complication.

  12. Automatic localization of cerebral cortical malformations using fractal analysis

    Science.gov (United States)

    De Luca, A.; Arrigoni, F.; Romaniello, R.; Triulzi, F. M.; Peruzzo, D.; Bertoldo, A.

    2016-08-01

    Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity.

  13. ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation.

    Science.gov (United States)

    Hanley, Michael; Ahmed, Osmanuddin; Chandra, Ankur; Gage, Kenneth L; Gerhard-Herman, Marie D; Ginsburg, Michael; Gornik, Heather L; Johnson, Pamela T; Oliva, Isabel B; Ptak, Thomas; Steigner, Michael L; Strax, Richard; Rybicki, Frank J; Dill, Karin E

    2016-07-01

    Pulmonary arteriovenous malformations are often included in the differential diagnosis of common clinical presentations, including hypoxemia, hemoptysis, brain abscesses, and paradoxical stroke, as well as affecting 30% to 50% of patients with hereditary hemorrhagic telangiectasia (HHT). Various imaging studies are used in the diagnostic and screening settings, which have been reviewed by the ACR Appropriateness Criteria Vascular Imaging Panel. Pulmonary arteriovenous malformation screening in patients with HHT is commonly performed with transthoracic echocardiographic bubble study, followed by CT for positive cases. Although transthoracic echocardiographic bubble studies and radionuclide perfusion detect right-to-left shunts, they do not provide all of the information needed for treatment planning and may remain positive after embolization. Pulmonary angiography is appropriate for preintervention planning but not as an initial test. MR angiography has a potential role in younger patients with HHT who may require lifelong surveillance, despite lower spatial resolution compared with CT. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every three years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment. PMID:27209598

  14. Morphological and functional aspects of progenitors perturbed in cortical malformations

    Directory of Open Access Journals (Sweden)

    Sara eBizzotto

    2015-02-01

    Full Text Available In this review, we discuss molecular and cellular mechanisms important for the function of neuronal progenitors during development, revealed by their perturbation in different cortical malformations. We focus on a class of neuronal progenitors, radial glial cells (RGCs, which are renowned for their unique morphological and behavioural characteristics, constituting a key element during the development of the mammalian cerebral cortex. We describe how the particular morphology of these cells is related to their roles in the orchestration of cortical development and their influence on other progenitor types and post-mitotic neurons. Important for disease mechanisms, we overview what is currently known about RGC cellular components, cytoskeletal mechanisms, signalling pathways and cell cycle characteristics, focusing on how defects lead to abnormal development and cortical malformation phenotypes. The multiple recent entry points from human genetics and animal models are contributing to our understanding of this important cell type. Combining data from phenotypes in the mouse reveals molecules which potentially act in common pathways. Going beyond this, we discuss future directions that may provide new data in this expanding area.

  15. Intramuscular vascular malformations of an extremity: findings on MR imaging and pathologic correlation

    International Nuclear Information System (INIS)

    Objective. To analyze the findings of intramuscular vascular malformations of an extremity on MR imaging and to correlate these findings with histopathologic examination.Design and patients. The findings on MR imaging and the medical records of 14 patients with an intramuscular vascular malformation of the extremity were retrospectively studied. All patients underwent surgical excision. Diagnoses were based on the results of pathologic examination. Findings on MR imaging were noted and correlated with the histopathologic findings.Results. Intramuscular vascular malformations of an extremity showed multi-septate, honeycomb, or mixed appearance on MR imaging. Multi-septate areas correlated with dilated and communicating vascular spaces with flattened endothelium. Honeycomb areas corresponded to vascular spaces with inconspicuous small lumina and thickened vascular walls. Areas of increased signal intensity on T2-weighted images were found in all intramuscular vascular malformations. Infiltrative margins were more commonly seen in intramuscular lymphaticovenous malformations. Adherence to neurovascular structures and orientation of the lesion along the long axis of the affected muscle were more commonly seen in intramuscular venous malformations.Conclusions. Intramuscular vascular malformations showed either a multi-septate, honeycomb, or mixed appearance, reflecting the size of the vascular spaces and the thickness of the smooth muscles of the vessel walls. Prediction of the subtype of an intramuscular vascular malformation of an extremity on MR imaging seems to be difficult, although there are associated findings that may be helpful in the differential diagnosis of each subtype. (orig.)

  16. MALFORMATION VERSUS MORTALITY, A STUDY OF NORTHERN LEOPARD FROG DEVELOPMENT IN SITU.

    Science.gov (United States)

    Field studies were designed to compare the relative incidence of mortality and malformation of developing northern leopard frogs (Rana pipiens) at two Minnesota (MN)Lake sites. Site selection was based on survey data that indicated one site had a high incidence of malformations (CWB) versus low inci...

  17. Adenomatoid cystic malformation, report of a case with prenatal diagnostic by ultrasound

    International Nuclear Information System (INIS)

    We report a case of a male newborn with a right intrapulmonary cystic lesion, without other congenital malformations or fetal hidrops, visualized prenatally by ultrasound in the second trimester, posterior diagnosed as a cystic adenomatoid malformation. We describe the ultrasound, plain, film, CT; histopathologic and intraoperatory findings

  18. Congenital cystic adenomatoid malformation: case presentation in a two months old infant

    International Nuclear Information System (INIS)

    Congenital cystic adenomatoid malformation (CCAM) is a rare abnormality of lung development; it is increasingly detected by the routine ultrasound scan during pregnancy. The severity of the abnormality is very variable. Herein, we present a case of congenital cystic adenomatoid malformation that presented in a two months old infant who had normal initial chest X rays. (author)

  19. Persistent primitive hypoglossal artery associated with Chiari II malformation: Diagnosis and clinical implications

    International Nuclear Information System (INIS)

    We present a case of persistent primitive hypoglossal artery (PPHA) associated with Chiari II malformation and discuss the clinical implications. There has been one reported case of PPHA associated with Chiari 1 malformation, but none in association with Chiari II. Our patient also had a widened hypoglossal canal, with cerebrospinal fluid (CSF) sac herniation through it

  20. An enlarged intramuscular venous malformation in the femoral region successfully treated with complete resection

    OpenAIRE

    Takuo Murakami; Dai Ogata; Kyohei Miyano; Tetsuya Tsuchida

    2016-01-01

    Introduction: Intramuscular venous malformations have been previously described as intramuscular hemangiomas, and various therapies have been applied for their treatment. This condition is relatively rare, and therefore, physicians often struggle to determine the appropriate therapy. We presented a case of an enlarged intramuscular venous malformation relapsed after surgery successfully treated with complete resection. Presentation of case: We presented a case of an enlarged intramuscular ...

  1. Sirenomelia with upper limb malformation: a case report and review of the literature.

    Science.gov (United States)

    Su, D; Yao, Q

    2015-01-01

    Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by fusion of the legs and a variable combination of visceral abnormalities. Some cases accompanied with rare malformations have been reported. In this article, the authors report a case of sirenomelia with upper limb malformations and a review of the literature. PMID:26411229

  2. Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome

    Directory of Open Access Journals (Sweden)

    Jay Desai

    2013-01-01

    Full Text Available Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.

  3. Higher Rate of Intracerebral Hemorrhage in Hispanic Patients with Cerebral Cavernous Malformation

    OpenAIRE

    Jenson, Amanda V.; Rodriguez, Gustavo J.; Alvarado, Luis A.; Cruz-Flores, Salvador; Maud, Alberto

    2015-01-01

    Cerebral cavernous malformations (CCM) are vascular malformations prone to intracerebral hemorrhage and epilepsy. Studies about the natural history and clinical presentation in the Hispanic population are lacking [7]. Retrospectively, we identified demographics and clinical features of Hispanic patients with CCM in our neurology clinic. Comparison with studies in the non-Hispanic White population with CCM was conducted.

  4. Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Wijers, Charlotte H. W.; van Rooij, Iris A. L. M.; Rassouli, Roxana; Wijnen, Marc H.; Broens, Paul M. A.; Sloots, Cornelius E. J.; Brunner, Han G.; De Blaauw, Ivo; Roeleveld, Nel

    2015-01-01

    Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental subfertility, ovulation induction, or the treatment itself is involved. Therefore, we investigated the odds of anorectal malformations among c

  5. COMPARING THE EFFECTS OF RETINOIC ACID ON AMPHIBIAN LIMB DEVELOPMENT AND LETHALITY: CHRONIC EXPOSURE RESULTS IN LETHALITY NOT LIMB MALFORMATIONS

    Science.gov (United States)

    Recently, high frequencies of malformations have been reported in amphibians across the United States. It has been suggested that the malformations may be the result of xenobiotic disruption of retinoid signaling pathways during embryogenesis and tadpole development. Therefore, a...

  6. PATTERN OF BABIES WITH CONGENITAL MALFORMATIONS ADMITTED IN A TERTIARY NEWBORN CARE UNIT

    Directory of Open Access Journals (Sweden)

    Saminathan

    2015-05-01

    Full Text Available AIM: To determine the pattern of congenital malformation in the neonates admitted in Mahatma Gandhi Memorial government Hospital, Trichy. METHOD: 16,672 live birth babies delivered in Mahatma Gandhi Memorial government Hospital, Trichy were screened for external congenital malformation during the study period august 2011 to august 2013. Total of 232 neonates were diagnosed have congenital malformat ions. Radiological investigations was done to confirm internal anomalies in asymptomatic neonates. RESULTS: Study showed a prevalence of major con genit al malformation to be 13.9 / 1000 live births, neural tube defects being the commonest (25%. The inciden ce is significantly high in mother of age group >35 years, increasing parity, positive family history. Congenital malformation constitutes a significant proportion of neonatal mortality. CONCLUSION: Congenital malformations are higher in mothers age group of >35 increasing parity, maternal hyperglycemia and preterm babies. Periconceptional folic acid intake is important to prevent neural tube defects.

  7. Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

    Science.gov (United States)

    Tarani, Luigi; Del Balzo, Francesca; Costantino, Francesco; Properzi, Enrico; D'Eufemia, Patrizia; Liberati, Natascia; Spalice, Alberto

    2010-01-01

    Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation. PMID:21589844

  8. Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

    Directory of Open Access Journals (Sweden)

    Alberto Spalice

    2010-09-01

    Full Text Available Chiari type I malformation (CMI is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation.

  9. Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH

    Directory of Open Access Journals (Sweden)

    Oppelt Patricia G

    2012-08-01

    Full Text Available Abstract Background The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex – associated Malformation classification system (VCUAM. Methods 290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy. Results Classification of female genital malformation according to the Vagina Cervix Uterus Adnex – associated Malformation classification system was possible in 284 women (97.9%. Complete atresia of Vagina (V5b and bilateral atresia of Cervix (C2b were found in 284 patients (100%. Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%. Adnexa: normal Adnexa were found in 248 women (87.3%. Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%, 84 women (29.6% had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7% could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8% diagnosed in 133 of 284 women. Conclusions Complete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities.

  10. Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.

    Science.gov (United States)

    Aughton, D J; Sloan, C T; Milad, M P; Huang, T E; Michael, C; Harper, C

    1990-01-01

    Nasopharyngeal teratomas are rare and are infrequently associated with extra-oral malformations. The case of a premature female infant with multiple congenital anomalies, including nasopharyngeal teratoma, Dandy-Walker malformation, diaphragmatic hernia, and congenital heart defect, is presented. This constellation of malformations does not appear to have been reported previously. Images PMID:2074566

  11. Arteriovenous malformation of the pancreas: a case report.

    Science.gov (United States)

    Abe, Tsuyoshi; Suzuki, Nobuyasu; Haga, Junichirou; Azami, Ayaka; Todate, Yukitoshi; Waragai, Mitsuru; Sato, Atai; Takano, Yoshinao; Kawakura, Kenji; Imai, Shigeki; Sakuma, Hideo; Teranishi, Yasushi

    2016-12-01

    Arteriovenous malformation (AVM) of the pancreas is uncommon in the gastrointestinal tract. We present a case of AVM of the pancreatic head in a 59-year-old male. He was admitted to a hospital with hematemesis and tarry stool and referred to our hospital in March 2014 on the diagnosis of pancreatic artery pseudoaneurysm. A computed tomography scan showed the presence of irregular dilated and/or stenotic vessels with meandering in the pancreatic head. Magnetic resonance imaging showed strong enhancement of the conglomeration in the pancreatic head. Selective angiography showed the proliferation of a vascular network in the pancreatic head and an early visualization of the portal vein at the arterial phase. The patient qualified for surgery with a preoperative diagnosis of AVM of the pancreatic head. We performed pylorus-preserving pancreaticoduodenectomy. The histological results confirmed the presence of irregular dilated tortuous arteries and veins in the pancreatic head. Surgical treatment may represent definitive management of symptomatic AVM. PMID:26943682

  12. A girl with sternal malformation/vascular dysplasia association

    Directory of Open Access Journals (Sweden)

    Na Yong Lee

    2013-03-01

    Full Text Available Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.

  13. Suspected fetal skeletal malformations or bone diseases: how to explore

    Energy Technology Data Exchange (ETDEWEB)

    Cassart, Marie [Erasme Hospital, Medical Imaging, Brussels (Belgium)

    2010-06-15

    Skeletal dysplasias are a heterogeneous and complex group of conditions that affect bone growth and development and result in various anomalies in shape and size of the skeleton. Although US has proved reliable for the prenatal detection of skeletal abnormalities, the precise diagnosis of a dysplasia is often difficult to make before birth (especially in the absence of a familial history) due to their various phenotypic presentations, the variability in the time at which they manifest and often, the lack of precise molecular diagnosis. In addition to the accuracy of the antenatal diagnosis, it is very important to establish a prognosis. This is a clinically relevant issue as skeletal dysplasias may be associated with severe disability and may even be lethal. We will therefore describe the respective role of two-dimensional (2-D) US, three-dimensional (3-D) US and CT in the antenatal assessment of skeletal malformations. (orig.)

  14. Histopathological Features of Brain Arteriovenous Malformations in Japanese Patients.

    Science.gov (United States)

    Hermanto, Yulius; Takagi, Yasushi; Yoshida, Kazumichi; Ishii, Akira; Kikuchi, Takayuki; Funaki, Takeshi; Mineharu, Yohei; Miyamoto, Susumu

    2016-06-15

    Clinical features of high risk brain arteriovenous malformations (BAVMs) are well characterized. However, pathological evidences about the differences that are possessed by high risk patients are still lacking. We reviewed archived routine hematoxylin-eosin specimens from a total of 54 surgical treated BAVMs. The histopathological features in nidus were semi-quantitatively analyzed. We obtained the pathological differences of BAVMs nidus between several clinical features. Among the analyzed pathological features, the significant differences were observed in degree of venous enlargement and intimal hyperplasia. Juvenile, female, diffuse nidus, high Spetzler-Martin grade, and low flow patients had a lesser degree of those parameters compared to adult, male, compact nidus, low Spetzler-Martin grade and high flow patients. High risk profiles of BAVMs patients were well-reflected in the nidus pathology. Therefore, juvenile, female, diffuse nidus, and low flow in Japanese BAVMs patients might have different vascular remodeling process that predispose to higher tendency of hemorrhage. PMID:27053330

  15. Magnetic Resonance Perfusion Imaging in Malformations of Cortical Development

    Energy Technology Data Exchange (ETDEWEB)

    Widjaja, ED.; Wilkinson, I.D.; Griffiths, P.D. [Academic Section of Radiolog y, Univ. of Sheffield, Sheffield (United Kingdom)

    2007-10-15

    Background: Malformations of cortical development vary in neuronal maturity and level of functioning. Purpose: To characterize regional relative cerebral blood volume (rCBV) and difference in first moment transit time (TTfm) in polymicrogyria and cortical tubers using magnetic resonance (MR) perfusion imaging. Material and Methods: MR imaging and dynamic T2*-weighted MR perfusion imaging were performed in 13 patients with tuberous sclerosis complex, 10 with polymicrogyria, and 18 controls with developmental delay but no macroscopic brain abnormality. Regions of interest were placed in cortical tubers or polymicrogyric cortex and in the contralateral normal-appearing side in patients with malformations. In 'control' subjects, regions of interest were placed in the frontal and parietal lobes in both hemispheres. The rCBV and TTfm of the tuber/contralateral side (rCBVRTSC and TTFMTSC) as well as those of the polymicrogyria/contralateral side (rCBVRPMG and TTFMPMG) were assessed. The right-to-left asymmetry of rCBV and TTfm in the control group was also assessed (rCBVRControls and TTFMControls). Results: There was no significant asymmetry between right and left rCBV or TTfm (P>0.05) in controls. There was significant reduction in rCBVRTSC compared to rCBVRControls (P<0.05), but no significant difference in TTFMTSC compared to TTFMControls (P>0.05). There were no significant differences between rCBVRPMG and rCBVRControls (P>0.05) or TTFMPMG and TTFMControls (P>0.05). Conclusion: Our findings imply that cerebral blood volume of polymicrogyria is similar to normal cortex, but there is reduced cerebral blood volume in cortical tubers. The lower rCBV ratio of cortical tubers may be related to known differences in pathogenetic timing of the underlying abnormalities during brain development or the presence of gliosis.

  16. Aborting a malformed fetus: a debatable issue in saudi arabia.

    Science.gov (United States)

    Al-Alaiyan, Saleh; Alfaleh, Khalid M

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  17. Percutaneous sclerotherapy of foot venous malformations: Evaluation of clinical response

    International Nuclear Information System (INIS)

    Aim: To evaluate a single institutional experience with percutaneous sclerotherapy of venous malformations (VM) of the foot. Materials and methods: Sixteen patients (mean age 14.6 years; range 6–27.3 years), who underwent 34 sclerotherapy procedures were retrospectively analysed. Technical success, Puig classification, VM size reduction, and the complication rate were evaluated. In procedures in which C-arm computed tomography (CT) was performed, the VM-to-skin surface distance was measured. Additionally, an e-mail-based questionnaire to evaluate the response to sclerotherapy was answered by the patients. Results: Technical success was 97%. The mean number of procedures per patient was 2.1 (range 1–5). In all procedures, sodium tetradecyl sulphate foam was used. Appropriate follow-up was available for 29/33 procedures (88%). Post-procedural complications occurred after 6/29 procedures (21%), all of which were self-limited skin complications. C-arm CT was performed in 19/33 procedures (58%). The lesion-to-skin surface distance was significantly shorter in patients with skin post-procedural complications (p < 0.001). The e-mail-based questionnaire was completed by 13/16 patients (81%). Decrease in swelling, improvement of foot function and a significant decrease in pain (p = 0.003) was reported. No patient reported dis-improvement after sclerotherapy. Conclusion: Percutaneous sclerotherapy is an effective option for treating foot VMs. Skin complication rates are higher with shorter VM-to-skin surface distance. - Highlights: • Treatment of foot venous malformations is a challenge due to their diffuse nature. • Percutaneous sclerotherapy is an effective treatment option. • Patients reported decrease in swelling and pain, and improvement of foot function. • Self limited post-procedural skin complications occur after 21% of the procedures. • A shorter lesion to skin surface distance was related to higher complications

  18. Outcomes of Congenital Cystic Lung Malformations in Children and Their Management According to Clinical Progression

    Directory of Open Access Journals (Sweden)

    Galyagina N.А.

    2014-06-01

    Full Text Available The aim of the investigation was to analyze the outcomes of congenital cystic lung malformations in children in accordance with clinical manifestations in pre- and postnatal period, and justify the management of patients. Materials and Methods. We analyzed retrospectively 45 cases of congenital cystic lung malformations treated over a period from 2005 to 2012 in two main children hospitals in Nizhny Novgorod. Results. Congenital cystic adenomatoid malformation (CCAM is the most common congenital cystic lesion of the lung (60%. Nearly half children with this pathology have no respiratory signs in neonatal period, and in 22.2% cases there are no manifestations in early childhood either. Three cases were found to have spontaneous regression of CCAM. Cystic adenomatoid malformation and solitary congenital cysts have the most favorable prognosis if prenatal lung lesions are early detected and there are no associated congenital malformations. Only 13% children (28.8% required surgical resection of cystic lung malformations. The survival rate of children with cystic lung malformations after surgery was 92.3%. Conclusion. Favorable outcomes of pregnancies with cystic lung diseases constituted the majority (86.7% of cases. Operative treatment is indicated if there are respiratory failure signs or recurrent respiratory infections.

  19. Study of Congenital Malformations in Central Nervous System AND Gastro- Intestinal Tract

    Directory of Open Access Journals (Sweden)

    Saiyad SS

    2012-04-01

    Full Text Available Introduction: Congenital malformations comprise 8% of the perinatal mortality in India. They rank fifth as a cause of perinatal mortality, after asphyxia, respiratory problems, infections and cerebral trauma. However, the pattern is changing rapidly with improvement in health care and living standards. Material & Method: In the present study, authors have tried to study the cases of congenital malformations specially related to Central nervous system and Gastro-intestinal system. 5240 cases of newborn babies were studied and results were analyzed and classified in to various categories. Findings: The results show that malformations are more common in still birth, more in female babies and more in central nervous system In live born babies the percentage of malformation is0.63 % whereas in still born baby it is6.53 %. Conclusions: Chances of having malformations increases as the age advances. Parity of mother also influences the incidence. Exposure to radiation & drugs also influences malformations. Incidence of congenital malformation is highest in central nervous system. [National J of Med Res 2012; 2(2.000: 121-123

  20. Effect of 60 Co gamma radiation on Biomphalaria Glabrata (Mollusca, Gastropoda) embryos: mortality, malformation and hatching

    International Nuclear Information System (INIS)

    A study was carried out on the radiosensitivity of Biomphalaria glabrata embryos submitted to doses of 5, 10, 15, 20 and 25 Gy of 60 Co during the cleavage, blastula, gastrula, young trochophore and trochophore stages. Mortality, malformation and hatching were the parameters used to evaluate the damage induced by ionizing radiation. Estimated L D50 values (15 days) showed that the cleavage stage (4.3 Gy) was approximately four times more radiosensitive than the trochophore stage (17.0 Gy). Susceptibility to malformation induction was higher in the blastula, gastrula and young trochophore stages. Several types of morphogenetic malformations were observed, such as head malformations, exogastrulas, shell malformations, and embryos with everted stomodeum, with nonspecific malformations being the most frequent. The types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied. The dose of 15 Gy was sufficient to greatly reduce the number of hatching snails regardless of the embryonic stage irradiated. We conclude that the effect of 60 Co gamma radiation on B. glabrata embryos presented a specific pattern. (author)

  1. Prevalence of malformed frogs in Kaoping and Tungkang river basins of southern Taiwan.

    Science.gov (United States)

    Huang, Da-Ji; Chiu, Yuh-Wen; Chen, Chien-Min; Huang, Kai-Hsiang; Wang, Shu-Yin

    2010-05-01

    In this study we found many amphibians with bizarre appearances, known as malformations in Pingtung County southern Taiwan. For this investigation we collected frogs inhabiting the Kaoping and Tungkang river watersheds between February 2006 and June 2007. Among the total number of 10,909 normal frogs (i.e., anurans) collected during the investigation period, the Indian rice frogs (Rana limnocharis) account for the greatest number next is the Chinese bullfrog (Rana rugulosa). Of all the 244 captured malformed frogs, the Indian rice frog account for the greatest proportion. These malformed frogs have their main distribution in upstream areas of these two rivers. Our result indicates that the appearance rate of malformed frogs is 1.8% in the upstream reaches of the Kaoping River and 2.6%, and 0.8%, respectively in the upstream and midstream reaches of the Tungkang river. The most-commonly-found malformation is the lack of palms, followed by the lack of appendages, exostosis, and a malformed appendicular. It is, therefore, reasonable to speculate that the causes for the malformation may be related to the increased organic pollutants and agricultural chemicals used in the upstream reaches of these two rivers. PMID:21047008

  2. Arterial desaturation due to pulmonary arteriovenous malformations after the Kawashima Operation

    Directory of Open Access Journals (Sweden)

    Rohit S Loomba

    2016-01-01

    Full Text Available Arterial desaturation may occur after the Kawashima procedure and, in the absence of venovenous collaterals is usually due to pulmonary arteriovenous malformations. Stenting of the pulmonary arteries, oxygen therapy, and pulmonary vasodilators such as sildenafil have not been able to resolve the arterial desaturation and the only way to do this has been Fontan completion. The time course of the formation of these malformations after the Kawashima and the progression of cyanosis and its resolution after the Fontan has only been demonstrated in case reports and small case series. We pool the available data to model arterial saturations in patients with pulmonary arteriovenous malformations after the Kawashima procedure.

  3. Mandibular Body Resection and Setback for Severe Malocclusion in Lymphatic Malformations.

    Science.gov (United States)

    Bjorklund, Kim A; Billmire, David A

    2016-05-01

    Extensive lymphangiomas of the facial skeleton result in deforming forces leading to ongoing masticatory, speech, oral hygiene, and airway problems. This paper presents a small series of patients with severe mandibular overgrowth secondary to lymphatic malformations. Following debulking of the malformations and tongue reductions, the authors describe the results of their treatment with bilateral mandibular body resections and setback. The authors' results suggest that severe functional impairment from deforming malformations can be addressed in childhood with orthognathic surgery. Improved occlusion, oral closure, and airway opening can be achieved using this procedure. PMID:27100638

  4. Multiple de novo vascular malformations in relation to diffuse venous occlusive disease: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Desal, H.A. [Hopital Laennec, University of Nantes, Department of Neuroradiology, Nantes (France); Toronto Western Hospital, Department of Medical Imaging, University Health Network, Toronto, Ont. (Canada); Lee, S.K.; Kim, B.S.; TerBrugge, K.G. [Toronto Western Hospital, Department of Medical Imaging, University Health Network, Toronto, Ont. (Canada); Raoul, S.; Tymianski, M. [Toronto Western Hospital, Department of Neurosurgery, University Health Network, Toronto, Ont. (Canada)

    2005-01-01

    Brain vascular malformations are dynamic disorders. Although mostly considered to be of congenital origin, the improvement of clinical imaging and vasculogenesis knowledge has shown that they might also result from a biological dysfunction of the remodeling process after birth. Venous occlusive disease and ishemia may represent powerful revealing triggers and support the capillary venous origin of some vascular malformations. We report a unique case of the development of multiple de novo vascular malformations (transverse sinus dural fistula and posterior fossa cavernomas) following acoustic neuroma surgery. (orig.)

  5. Management of Low-Flow Vascular Malformations: Clinical Presentation, Classification, Patient Selection, Imaging and Treatment

    International Nuclear Information System (INIS)

    This review article aims to give an overview of the current state of imaging, patient selection, agents and techniques used in the management of low-flow vascular malformations. The review includes the current classifications for low-flow vascular malformations including the 2014 updates. Clinical presentation and assessment is covered with a detailed section on the common sclerosant agents used to treat low-flow vascular malformations, including dosing and common complications. Imaging is described with a guide to a simple stratification of the use of imaging for diagnosis and interventional techniques

  6. Management of Low-Flow Vascular Malformations: Clinical Presentation, Classification, Patient Selection, Imaging and Treatment

    Energy Technology Data Exchange (ETDEWEB)

    McCafferty, Ian, E-mail: ian.mccafferty@uhb.nhs.uk [Queen Elizabeth Hospital Birmingham (QEHB) & Birmingham Children’s Hospital (BCH) (United Kingdom)

    2015-10-15

    This review article aims to give an overview of the current state of imaging, patient selection, agents and techniques used in the management of low-flow vascular malformations. The review includes the current classifications for low-flow vascular malformations including the 2014 updates. Clinical presentation and assessment is covered with a detailed section on the common sclerosant agents used to treat low-flow vascular malformations, including dosing and common complications. Imaging is described with a guide to a simple stratification of the use of imaging for diagnosis and interventional techniques.

  7. Evaluation of the representativeness of a Dutch non-malformed control group for the general pregnant population : are these controls useful for EUROCAT?

    NARCIS (Netherlands)

    Jentink, J.; Zetstra-van der Woude, A.P.; Bos, Jens; De Jong-Van den Berg, L.T.

    2011-01-01

    Purpose A case-control study is the most powerful design to test the risk of specific congenital malformations associated with a specific drug. However, malformation registries often lack non-malformed controls. For the Dutch EUROCAT, we collected a non-malformed control group: the 'Healthy Pregnant

  8. Pulmonary Venous Malformation in a 4- Year-Old Boy: a Case Report

    International Nuclear Information System (INIS)

    We report a case of a pulmonary venous malformation in a 4-year-old boy who presented with recurrent pneumonia. A radiograph revealed a right infrahilar mass and a hyperlucent right lung. Computed tomography (CT) demonstrated a mass containing intensely enhancing areas and multiple phleboliths located in the right lower lobe and encasing the right bronchus and right inferior pulmonary vein. Magnetic resonance imaging (MRI) precisely revealed the mass demarcation. A right lower lobectomy was performed and a pathological examination confirmed the diagnosis of a venous malformation. To the best of our knowledge, a venous malformation in pulmonary tissue has not been reported in the English literature. Herein, we report a case of a pulmonary venous malformation, with the radiograph, CT, MRI, and blood pool scan findings, along with its pathologic correlation

  9. Implications of a first trimester Down syndrome screening program on timing of malformation detection

    DEFF Research Database (Denmark)

    Jakobsen, Tanja Roien; Søgaard, Kirsten; Tabor, Ann

    2011-01-01

    To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women....

  10. [Complete endocardial cushion defect and bone malformations of the hands. Holt-Oram syndrome].

    Science.gov (United States)

    Del Corso, L; Vannini, A; De Marco, S; Gnesi, A; Pentimone, F

    1991-10-01

    A 44 year old woman with upper limb skeletal malformations and endocardial cushion defect is described. This congenital heart disease was rarely reported in association with Holt-Oram syndrome. PMID:1745380

  11. Frog malformations at the San Luis National Wildlife Refuge complex 2000-2001

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — In 2000 a nationwide survey of amphibian malformations was initiated. Because of its history of contamination with agricultural drainwater, the San Luis NWR Complex...

  12. An enlarged intramuscular venous malformation in the femoral region successfully treated with complete resection

    Directory of Open Access Journals (Sweden)

    Takuo Murakami

    2016-01-01

    Conclusion: The therapy for venous malformations should be decided based on the degree of disability in daily living, adjacent tissue damage, and cosmetic concerns after appropriate differential diagnostic investigations and biopsy.

  13. Survey for malformed amphibians at National Wildlife Refuges in the southeast Region: Final report for 2000

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report provides findings of surveys for malformed frogs in select refuges in LA and TN. Standard protocol for sampling anuran populations were followed.

  14. Survey for malformed amphibians at National Wildlife Refuges in the southeast Region: Final report for 2001

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report provides findings of surveys for malformed frogs in select refuges in LA, MS, and TN. Standard protocol for sampling anuran populations were followed.

  15. Ethical language and decision-making for prenatally diagnosed lethal malformations.

    Science.gov (United States)

    Wilkinson, Dominic; de Crespigny, Lachlan; Xafis, Vicki

    2014-10-01

    In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as 'lethal' or as 'incompatible with life'. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated 'lethal' reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of 'futility'. We recommend avoiding the term 'lethal' and suggest that counseling should focus on salient prognostic features instead. For conditions with a high chance of early death or profound impairment in survivors despite treatment, perinatal and neonatal palliative care would be ethical. However, active obstetric and neonatal management, if desired, may also sometimes be appropriate. PMID:25200733

  16. Kidney and Urinary Tract Congenital Malformations. Diagnosis and Evolution. 1999- 2005

    International Nuclear Information System (INIS)

    A descriptive study in 351 patients at the Nephrology and Urology Services at 'Octavio de la Concepcion de la Pedraja' Teaching Pediatric Hospital from January 1999 to December 2005, was carried out. 535 kidney and urinary tract congenital malformations of 19 types were diagnosed. Primary vesicoureteral reflux and ureteropyelic stenosis were the most frequently malformations. The majority of these patients were diagnosed during the first year of the life. The most frequently clinic manifestation was urinary tract infection. Ultrasound study and cystouretrography were effective to diagnose these malformations. The majority of patients with prenatal diagnosis had congenital hydronephrosis. Posterior urethral valves were the principal cause of chronic renal failure. The I, II and III grades of Primary Vesicoureteral Reflux disappeared spontaneously with conservative treatment. There was a direct relationship between Reflux Nephropathy and the grade of these malformations

  17. Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation

    DEFF Research Database (Denmark)

    da Rosa, Ernani B; Silveira, Daniélle B; Tsugami, Laís G;

    2016-01-01

    BACKGROUND: Nasoethmoidal meningocele is considered an uncommon type of cephalocele, and congenital cystic adenomatoid malformation (CCAM) is a rare lung disorder characterized by overgrowth of the terminal bronchioles. CASE: We report the unusual association between a nasoethmoidal meningocele a...

  18. One stage correction of anorectal malformations in newborns

    Directory of Open Access Journals (Sweden)

    Makedonsky I.O.

    2015-06-01

    Full Text Available The retrospective analysis of case histories of 35 infants (19 boys, 16 girls, treated in the department of reconstructive surgery of Dnipropetrovsk center of mother and child health in the period 2008-2013 was done. All the patients underwent one-stage treatment of anorectal malformations in neonatal period. Surgery was performed in the first 48 hours of life. Body weight of infants ranged from 2,8 to 4,4 kg (average weight 3,2 kg. Among related conditions there were observed vesico-ureteral reflux (VUR – in 11 (31,4%, VATER association - in 6 (17.1%, malformations of the spine – in 18 (51,4%, of the heart – in 2 (5,7% . During cystoscopy fistula in the urinary system was revealed in 16 boys. Surgical treatment was carried out by the posterior sagittal anorectoplasty (PSARP by A.Pena. 2 patients additionally underwent laparotomy. Among 16 patients with fistula in the urinary system, prostatic urethra fistula was revealed in 14, bladder neck fistula – in 2. Children were discharged from the hospital 2 weeks after surgery. All the children re­ceived anti­biotics due to the presence of VUR. After 1 month after surgery VCUG was performed. Long-term results were studied for a period of 10 to 24 months. All patients had VUR without evidence of hydronephrosis. In the period of 3-6 months after surgery 2 patients presented anal stenosis due to violation of dilatation. The evaluation results in the late period (10-24 months after surgery noted the presence of normal stool 2-3 times a day, 3 children had periodic con­stipations treated by diet. Available merits of the described method: only one operation and general anesthesia is per­for­med, no risk of prolonged contamination by pathogenic flora of the urinary system through the fistula, potential risk of complications of laparotomy and colostomy decreases, fistula visualization in cystoscopy allows to avoid the X-ray.

  19. Stereotactic radiosurgery in the management of angiographically occult vascular malformations

    International Nuclear Information System (INIS)

    Purpose: To evaluate the role of stereotactic radiosurgery in the treatment of angiographically occult vascular malformations (AOVMs). Methods and Materials: From 1987 to 1996, 21 patients, 10 males and 11 females, median age of 41 years (range: 7-75 years), with an intracerebral AOVM underwent stereotactic radiosurgery at our institution. All were considered at high risk for surgical intervention. The vascular lesions were located in the brainstem (17 patients), basal ganglia (2), occipital lobe (1), and cerebellum (1). Diagnosis was based on high-resolution magnetic resonance imaging (MRI). Clinical presentation at onset included previous intracerebral hemorrhage (20 patients) and epilepsy (1). All patients were treated with a linac-based radiosurgical technique. The median dose delivered was 25 Gy (range 13-50 Gy), typically prescribed to the 80-90% isodose surface (range 50-90%), which corresponded to the periphery of the vascular malformation. Patients were followed by clinical neurologic assessment and by MRI on a regular interval basis. Results: Follow-up was obtained in 20 patients; clinical or MRI information was not available for 1 patient, and this patient was excluded from our analysis. At a median follow-up of 77 months (range: 4-141 months), follow-up MRIs postradiosurgery do not demonstrate any changes in the appearance of the AOVM. Four patients developed an intracranial bleed at 4, 8, 35, and 57 months postradiosurgery. Annual hemorrhage rates were considerably higher in the observation period preradiosurgery than postradiosurgery (30% vs. 3.2%, p<0.001). Complications postradiosurgery were observed in 4 patients. Three patients developed mild to moderate edema surrounding the radiosurgical target, expressed at 5, 8, and 24 months, respectively. In all cases, the edema was transient and resolved completely on subsequent MRIs. One of the 4 patients developed radiation necrosis 8 months after radiosurgery. Conclusion: The use of stereotactic

  20. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

    Directory of Open Access Journals (Sweden)

    Laura A. Runck

    2014-04-01

    Full Text Available Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations

  1. Endovascular management of vein of galen aneurysm malformation: A series of two case reports

    Directory of Open Access Journals (Sweden)

    Lakshmi Sudha Prasanna Karanam

    2011-01-01

    Full Text Available Vein of Galen Aneurysm malformation is one of the most difficult intracranial vascular lesions to manage. The difficulty in management of its shunts is aggravated by the hemodynamic effect and shunting reflected in the growing brain of infants and children. At present, the therapeutic options are widened by the opening of a new horizon in Intervention Neuroradiology. We present a series of two case reports of these malformations treated using the endovascular method, at our institution.

  2. Expression of the Components of the Renin–Angiotensin System in Venous Malformation

    OpenAIRE

    Siljee, Sam; Keane, Emily; Marsh, Reginald; Brasch, Helen D.; Tan, Swee T.; Itinteang, Tinte

    2016-01-01

    Background Venous malformation (VM) is the most common form of vascular malformation, consisting of a network of thin-walled ectatic venous channels with deficient or absent media. This study investigated the expression of the components of the renin–angiotensin system (RAS), namely, (pro)renin receptor (PRR), angiotensin-converting enzyme (ACE), angiotensin II receptor 1 (ATIIR1), and angiotensin II receptor 2 (AIITR2) in subcutaneous (SC) and intramuscular (IM) VM. Materials and methods SC ...

  3. Case report: Combined transarterial and direct approaches for embolization of a large mandibular arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Chiramel George Koshy

    2011-01-01

    Full Text Available Arteriovenous malformations (AVMs that involve the mandible are difficult lesions to treat, with traditional options being surgery and embolization. This article describes a large mandibular AVM that was treated with embolization using transarterial as well as direct puncture approaches. Follow-up imaging showed thrombosis of the vascular spaces of the malformation. There were no complications. The patient is doing well and is on follow-up.

  4. Syringomyelia in three small breed dogs secondary to Chiari-like malformation: clinical and diagnostic findings

    OpenAIRE

    Park, Chul; KANG, Byeong-Teck; Yoo, Jong-Hyun; Park, Hee-Myung

    2009-01-01

    Three small breed dogs were referred for the evaluation of neurologic deficits. Upon physical and neurologic examination, all dogs displayed hyperesthesia, pain, and neck stiffness. Magnetic resonance imaging was performed on the brain and spinal cord, and all three dogs presented Chiari-like malformations and syringomyelia. These dogs were treated with prednisolone and furosemide, and showed rapid improvement of clinical signs. Chiari malformations and syringomyelia were not improved because...

  5. Orbital Emphysema Causing SyncopeChiari Malformation with Thick Occipital Bone

    OpenAIRE

    Yasuhara, Takao; Miyoshi, Yasuyuki; Date, Isao

    2011-01-01

    A case of a Chiari malformation with an extraordinarily thick occipital bone is described. The thick occipital bone might make the posterior fossa narrow with consequent herniation of the cerebellar tonsils to the foramen magnum and formation of a syrinx. At dural plasty, well-developed marginal and occipital sinuses should be deliberately handled with the preservation of normal venous drainage. This case gives us the essence of the occurrence mechanisms of Chiari malformation and foramen mag...

  6. Cardiorenal Syndrome is Present in Human Fetuses with Severe, Isolated Urinary Tract Malformations

    OpenAIRE

    Merz, Waltraut M.; Kübler, Kirsten; Fimmers, Rolf; Willruth, Arne; Stoffel-Wagner, Birgit; Gembruch, Ulrich

    2013-01-01

    Objective We analyzed the association between renal and cardiovascular parameters in fetuses with isolated severe urinary tract malformations. Methods 39 fetuses at a mean gestational age of 23.6 weeks with nephropathies or urinary tract malformations and markedly impaired or absent renal function were prospectively examined. Fetal echocardiography was performed, and thicknesses of the interventricular septum, and left and right ventricular wall were measured. Blood flow velocity waveforms of...

  7. Atlas Assimilation Patterns in Different Types of Adult Craniocervical Junction Malformations

    OpenAIRE

    Ferreira, Edson Dener Zandonadi; Botelho, Ricardo Vieira

    2015-01-01

    Study Design. This is a cross-sectional analysis of resonance magnetic images of 111 patients with craniocervical malformations and those of normal subjects. Objective. To test the hypothesis that atlas assimilation is associated with basilar invagination (BI) and atlas's anterior arch assimilation is associated with craniocervical instability and type I BI. Summary of Background Data. Atlas assimilation is the most common malformation in the craniocervical junction. This condition has been a...

  8. The cyclops and the mermaid: an epidemiological study of two types of rare malformation.

    OpenAIRE

    Källén, B; Castilla, E.E.; P. A. Lancaster; Mutchinick, O; Knudsen, L B; Martínez-Frías, M L; Mastroiacovo, P.; Robert, E.

    1992-01-01

    Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely inclusion of some chromosomally abnormal infants which were not identified. About half of...

  9. A clinical and experimental overview of sirenomelia: Insight into the mechanisms of congenital limb malformations

    OpenAIRE

    Garrido-Allepuz, Carlos; Haro, Endika; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica; Ros, María A.

    2011-01-01

    Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced b...

  10. Seasonal prevalence of major congenital malformations in the Fylde of Lancashire 1957-1981.

    OpenAIRE

    Bound, J. P.; Harvey, P W; Francis, B J

    1989-01-01

    The seasonal prevalence of major congenital malformations was studied in a prospective survey of 88,449 children born in the circumscribed Fylde of Lancashire to residents there over 25 years. Ascertainment was thought to be as complete as was practically possible because cases were recorded daily by one, and for 17 years the only, paediatrician and a very high rate of necropsies was maintained. The number of malformations were classified by month of maternal last menstrual period and seasona...

  11. Psychosocial burden and quality of life in parents of children with anorectal malformation

    OpenAIRE

    Pruthi Gavneet; Mohta Anup

    2010-01-01

    Aim: To assess the psychosocial burden and quality of life in parents of children with anorectal malformation. Subjects and Methods : This is a prospective study conducted in a tertiary care specialty hospital. Sample consisted of 50 parents (care givers), having children with anorectal malformation in the age group of 0-14 years. Data were collected through a semi structured interview with the care givers, using Zarit Burden Interview for assessing extent of burden and WHOQOL-BREF for assess...

  12. A RARE CASE OF UTERINE VASCULAR MALFORMATION PRESENTING WITH HEAVY MENSTRUAL BLEEDING AND RECURRENT PREGNANCY LOSS

    Directory of Open Access Journals (Sweden)

    Monalisa

    2015-03-01

    Full Text Available Uterine Arteriovenous Malformation (AVM is a rare condition, with fewer than 100 cases reported in the literature. It is a potentially life - threatening condition, as patients may present with profuse bleeding. Vascular lesions of the uterus are rare and the vast majority repo rted in the literature are those of arteriovenous malformations. Uterine AVM can be congenital or acquired. This case reports a woman with Uterine AVM presenting with heavy menstrual bleeding and a history of recurrent pregnancy loss.

  13. Inheritance of Chiari-Like Malformation: Can a Mixed Breeding Reduce the Risk of Syringomyelia?

    OpenAIRE

    Knowler, Susan P.; v/d Berg, Henny; McFadyen, Angus; La Ragione, Roberto M; Rusbridge, Clare

    2016-01-01

    Canine Chiari-like malformation (CM) is a complex abnormality of the skull and craniocervical junction associated with miniaturization and brachycephaly which can result in the spinal cord disease syringomyelia (SM). This study investigated the inheritance of CM in a Griffon Bruxellois (GB) family and feasibility of crossbreeding a brachycephalic CM affected GB with a mesaticephalic normal Australian terrier and then backcrossing to produce individuals free of the malformation and regain GB b...

  14. Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire.

    OpenAIRE

    David, T J; McCrae, F C; Bound, J. P.

    1983-01-01

    The necropsy reports of 174 cases of anencephaly, born in the Fylde peninsula of Lancashire between 1957 and 1980, have been analysed for the presence of other malformations. The results were compared with a similar previous series from Bristol, though the Bristol study differed both in time (1948 to 1975) and in the fact that it was hospital based and, unlike the present study, did not achieve near complete ascertainment. Of the Lancashire anencephalics, 24% had other malformations, a signif...

  15. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Oxhøj, H; Andersen, P E;

    1999-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM.......Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM....

  16. Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment)

    OpenAIRE

    García-Ramos Rocío; Fernández de Gamboa Fernández de Araoz Marta; Escribano Silva Mercedes; Chesa i Octavio Ester; de la Cruz Labrado Javier; Barrón Fernández Javier; Amado Vázquez María Eugenia; Izquierdo Martínez Maravillas; Isla Guerrero Alberto; Avellaneda Fernández Alfredo; García Ribes Miguel; Gómez Carmen; Insausti Valdivia Joaquín; Navarro Valbuena Ramón; Ramón José R

    2009-01-01

    Abstract Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptom...

  17. Chromosomal investigations in patients with mental retardation and/or congenital malformations

    OpenAIRE

    C.B. Santos; R.T. Boy; Santos, J.M.; M.P.S. Silva; M. M. G. Pimentel

    2000-01-01

    We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Tu...

  18. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

    OpenAIRE

    Green, A.J.; Sandford, R. N.; Davison, B C

    1996-01-01

    We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the s...

  19. Radiology, histology and short-term outcome of asymptomatic congenital thoracic malformations

    DEFF Research Database (Denmark)

    Kongstad, Thomas; Buchvald, Frederik; Brenøe, Jørn;

    2012-01-01

    The aim of this study was to evaluate the safety and short-term outcome of our management of asymptomatic children with antenatally diagnosed congenital thoracic malformations (CTM), compared with recommendations from a recent review and meta-analysis.......The aim of this study was to evaluate the safety and short-term outcome of our management of asymptomatic children with antenatally diagnosed congenital thoracic malformations (CTM), compared with recommendations from a recent review and meta-analysis....

  20. No effects of dioxin singly on limb malformations in macaque monkeys through epidemiological and treated studies

    Energy Technology Data Exchange (ETDEWEB)

    Asaoka, Kazuo; Iida, Hiroko [Kyoto Univ. (Japan). Primate Research Insitute, Dept. of Molecular and Cellular Biochemistry; Watanabe, Kunio [Kyoto Univ. (Japan). Primate Research Institute, Field Research Center; Goda, Hiroshi [Towa Kagaku Co., Ltd. (Japan); Ihara, Toshio; Nagata, Ryoichi [Shin Nippon Biomedical Laboratories, Ltd. (Japan). Safety Research Facility; Yasuda, Mineo [Hiroshima International Univ. (Japan). Fac. of Health Sciences, Dept. of Clinical Engineering; Kubata, Shunichiro [Tokyo Univ. (Japan). Dept. of Life Science, Graduate School of Arts and Sciences

    2004-09-15

    Human populations exposed with highly dioxin were suspected to be caused immunological dysfunctions, carcinogenesis, and developmental and reproductive dysfunctions. Because of species resemblances, the dioxin effects have been investigating using monkeys as a model for assessment of dioxin exposure on human health. Since 1957 the limb malformations of monkeys in Japan have been reported. The higher frequency of them was found in provisional groups of monkeys who were given the same kind of food for human. The chromosomal abnormalities are excluded from the factor for the congenital limb malformations that are still producing in Japan. In this study, the relations between dioxin and the limb malformations of macaque monkeys were estimated by the epidemiological and administered researches. The dioxin levels in monkeys were measured at two districts that one has the provisional groups including monkeys with limb malformations and the other has breeding groups never seeing the malformations for a long time. TEQ was calculated by the levels of dioxin isomers in the monkeys and the values show no difference between the two places and between the individuals with and without the limb malformations. 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) was administered via subcutaneous to pregnant rhesus monkeys from the day 20 of gestation to the day 90 after birth. The exposed babies, including the offspring and died in neonatal, had observed normal limbs in the range of 30-300 ng TCDD /kg of body weight.

  1. Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

    Energy Technology Data Exchange (ETDEWEB)

    Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in; Mammen, Suraj, E-mail: surajmammen77@gmail.com [Christian Medical College, Department of Radiology (India); David, Sarada, E-mail: saradadavid@gmail.com [Christian Medical College, Department of Ophthalmology (India); Sen, Sudipta, E-mail: paedsur@cmcvellore.ac.in [Christian Medical College, Department of Pediatric Surgery (India)

    2015-04-15

    PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.

  2. Prenatal death and malformations after irradiation of mouse zygotes with neutrons or X-rays

    International Nuclear Information System (INIS)

    Female mice (strain: Heiligenberger Stamm) were irradiated with neutrons (7 MeV) or X-rays when embryos were at the early zygote stage; uterine contents were examined on gestation day 19 for prenatal mortality and malformed fetuses. For both radiation qualities, the dose-dependent survival curve fitted well to a simple exponential equation; the neutron relative biological efficiency (RBE) value was 2.3. The major fraction of deaths induced by exposure to neutrons or X-rays occurred before implantation. Aside from dead embryos, malformed fetuses were observed 19 days p.c. (postconception). The number of malformed fetuses increased with a linear-quadratic function of neutron or X-ray dose. Malformations were mainly gastroschisis, although omphaloceles and anencephalies were also observed. The neutron RBE value for the induction of malformations varied from 2.0 to 2.8 in the dose range tested. Except after 75-cGy neutrons, no significant increase in the proportion of stunted or skeletally malformed fetuses was noted. Our results indicated that the reaction of preimplantation embryos to irradiation could be more complex than the simple all-or-none response considered so far

  3. The value of 64-slice CT angiography in diagnosing spinal vascular malformations

    International Nuclear Information System (INIS)

    Objective: To evaluate 64-slice CT angiography in diagnosing spinal vascular malformations. Methods: Fifteen patients, who were suggestive of spinal vascular malformations by clinical manifestation and MRI, underwent CT angiography with a 64-slice spiral CT (GE lightspeed VCT). DSA were performed later within 1 week in all the patients and four of them were treated with operation as well. We evaluated CTA images in displaying the lesions according to the following aspects: the type of malformation, lesion range, feeding artery, draining vein and possible fistula, and compared those details with DSA and operation findings. Results: All 15 patients acquired their final diagnosis by DSA and operation, which were intramedullary artefiovenous malformation in 6 cases, perimedullary artefiovenous fistula in 2, spinal dural arteriovenous fistula in 3 and Cobb syndrome in 4 cases. CTA was consistent with DSA in the classification of lesions and in the determination of the involved regions and it revealed the main feeding arteries and draining veins in all patients. CTA showed four arteriovenous fistulae confirmed by DSA, but it failed in a complex arteriovenous fistula. In Cobb syndrome patients, not only the intramedullary but also paravertebral and subcutenous vascular malformation could be clearly seen on CTA images. Conclusion: 64-slice CT angiography can be a preliminary method in spinal vascular malformation because it can determine the classification and reveal almost all the main lesions quickly, atraumatically. (authors)

  4. Functional Magnetic Resonance Imaging in the Presurgical Evaluation of Brain Vascular Malformations

    International Nuclear Information System (INIS)

    Objective: To describe our experience in presurgical evaluation of intracranial vascular malformations by means of functional magnetic resonance (fMRI). Method: To evaluate eight patients with cerebral vascular malformations (seven arterio-venous malformation [AVM ] and one cavernous malformation) to send to the eloquent cortex with RMf pre-surgical mapping is assessed. Used a technique that is dependent on the level of oxygen (BOLD) to locate these areas in the cerebral vascular malformation, by applying different paradigms. Results: We found one AVM at the right temporal lobe with activation of the parahipocampal gyrus at the contralateral side using a memory paradigm; another patient with an AVM at the right mesotemporal lobe showed activation of visual and spatial memory of the contralateral hippocampus and parahippocampus. One patient with an AVM at the left parietal lobe without compromise of sensorial and motor cortex; a cavernous malformation at the left angular gyrus with hemispheric language dominance in that side; one right thalamic AVM, one periventricular AVM bilateral language dominance; one left occipital AVM with decreased activation in visual association cortex; one temporoccipital AVM with left language dominance and neurovascular uncoupling. Conclusion: fMRI can delineate anatomically the relationship between the lesion and eloquent cortex, providing useful information for presurgical planning and allowing risk estimation of intervention.

  5. Major congenital malformations in the high and normal level radiation areas of southwest coast of Kerala

    International Nuclear Information System (INIS)

    Congenital malformations are defects in organogenesis during the fetal periods and its influence on the individual may vary according to the type of malformation. Some congenital malformations are trivial and may not have any significance but for a minimal cosmetic deformity. Major malformations on the contrary may be severe enough to be life-threatening with serious structural, functional or cosmetic disability requiring surgical or medical management and are an important cause of mortality and morbidity all over the world. The present paper analyses the major malformations detected during the monitoring of newborns in selected government hospitals in and around the high level natural radiation areas of Kerala, a narrow strip of land in the southwest coast extending from Purakkad panchayat of Alapuzha district in the north to Neendakara Panchayat of Quilon district in the south. The coastal area has natural deposits of Monazite sand containing Thorium. Thorium together with its daughter products accounts for the elevated levels of natural radiation. The finding in general was in conformity with similar works on malformations

  6. Imaging in anorectal malformations: What does the surgeon need to know?

    Directory of Open Access Journals (Sweden)

    Christopher Westgarth-Taylor

    2015-10-01

    Full Text Available Imaging is essential in the diagnosis, management, surgical planning and eventual outcome in patients with anorectal malformation (ARM. This article outlines the imaging that may be required and the information needed by the surgeon to attain the best possible surgical outcome. ARM encompasses a wide spectrum of congenital malformations relating to the distal rectum and anus as well as the urinary and or gynaecological systems. The malformations range from a relatively simple perineal fistula with the potential for an excellent functional outcome, to complex cloacal malformation that requires specialist care and intervention. Approximately half of these children will have associated abnormalies. In the first 24–48 hours of life, imaging is used to determine if any associated anomalies are severe enough to preclude an operation, and what operation will be required so that the child can grow as normally as possible. If a colostomy is done, pre-definitive repair imaging in the form of a high-pressure distal colostogram determines the surgical approach required to repair the malformation. In more complicated cases of cloacal malformation, advanced imaging in the form of MRI or 3D fluoroscopy is valuable. In the South African setting, 2D fluoroscopy with the surgeon present is adequate to help in planning for the surgical management. Communication between the radiologist and paediatric surgeon is essential to ensure that such patients have the best possible outcome.

  7. Upper limb malformations in chromosome 22q11 deletions

    Energy Technology Data Exchange (ETDEWEB)

    Shalev, S.A.; Dar, H.; Barel, H.; Borochowitz, Z. [Bnai Zion Medical Center, Haifa (Israel)

    1996-03-29

    We read with interest the report of Cormier-Daire et al. in a recent issue of the journal, describing upper limb malformations in DiGeorge syndrome. We observed a family with this group of rare clinical expression of chromosome 22q11 deletions. The proposita was examined in our clinic when she was 4 years old. She was mildly mentally retarded. Clinical evaluation showed normal growth, long thin nose with squared tip, nasal speech, and abundant scalp hair and no cardiac anomalies. The girl was accompanied by her mother. Facial similarities were noted between the two. The mother reported to be treated with oral calcium due to hypoparathyroidism, diagnosed several years ago. Clinical evaluation showed wide flat face, short stature, mild mental retardation, slight hypertelorism, peculiar nose similar to her daughter`s, and nasal speech. No cardiac anomalies were found. Recently, a brother was born. Clinical examination documented large ventriculo-septal defect, retrognathia, narrow palpebral fissures, and long thin nose with squared tip. 1 ref.

  8. Complications from arteriovenous malformation radiosurgery: multivariate analysis and risk modeling

    International Nuclear Information System (INIS)

    Purpose/Objective: To assess the relationships of radiosurgery treatment parameters to the development of complications from radiosurgery for arteriovenous malformations (AVM). Methods and Materials: We evaluated follow-up imaging and clinical data in 307 AVM patients who received gamma knife radiosurgery at the University of Pittsburgh between 1987 and 1993. All patients had regular clinical or imaging follow up for a minimum of 2 years (range: 24-96 months, median = 44 months). Results: Post-radiosurgical imaging (PRI) changes developed in 30.5% of patients with regular follow-up magnetic resonance imaging, and were symptomatic in 10.7% of all patients at 7 years. PRI changes resolved within 3 years developed significantly less often (p = 0.0274) in patients with symptoms (52.8%) compared to asymptomatic patients (94.8%). The 7-year actuarial rate for developing persistent symptomatic PRI changes was 5.05%. Multivariate logistic regression modeling found that the 12 Gy volume was the only independent variable that correlated significantly with PRI changes (p < 0.0001) while symptomatic PRI changes were correlated with both 12 Gy volume (p = 0.0013) and AVM location (p 0.0066). Conclusion: Complications from AVM radiosurgery can be predicted with a statistical model relating the risks of developing symptomatic post-radiosurgical imaging changes to 12 Gy treatment volume and location

  9. Specific recognition of arteriovenous malformations using xenon-133 RCBF technique

    International Nuclear Information System (INIS)

    With respect to the methodology of the atraumatic xenon-133 technique the problem whether or not the proposed and introduced arterial artifact (AA) truely represents radiation from intravascular volume and to what extent it affects regional cerebral blood flow (rCBF) calculation is unresolved. We performed rCBF measurements in 22 patients with angiomas to clarify this issue in those patients known to have pathologically enlarged intracranial vessels. P4 - the parameter suggested to represent the AA - as well as the conventional blood flow parameter for gray matter (F1) were compared to those of 50 volunteers using four criteria of abnormality: 1. Intrahemispheric distribution, 2. interhemispheric differences of homologous detector pairs, 3 differences of mean hemispheric values, 4. visual evaluation of CBF maps. 19 of the 22 patients with angioma fulfilled at least two of the four criteria of abnormality, in comparison to 1 of 50 volunteers. P 4's sensitivity for detecting angiomas proved to be higher (86%) than the perfusion parameters of gray matter. Focal increase of P4 proved to be highly specific for the presence of arteriovenous malformation (AVM, specifity 98%). A true arterial artifact exists in most instances in the presence of an AVM. Disregarding AA in the algorithm for calculation rCBF leads to an artificial overestimation of tissue flow in the region of the AVM

  10. Turner syndrome with spinal hemorrhage due to vascular malformation.

    Science.gov (United States)

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong

    2015-12-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS. PMID:26817012

  11. Absolute Ethanol Embolization of Arteriovenous Malformations in the Periorbital Region

    International Nuclear Information System (INIS)

    ObjectiveArteriovenous malformations (AVMs) involving the periorbital region are technically challenging clinical entities to manage. The purpose of the present study was to present our initial experience of ethanol embolization in a series of 16 patients with auricular AVMs and assess the outcomes of this treatment.MethodsTranscatheter arterial embolization and/or direct percutaneous puncture embolization were performed in the 16 patients. Pure or diluted ethanol was manually injected. The follow-up evaluations included physical examination and angiography at 1- to 6-month intervals.ResultsDuring the 28 ethanol embolization sessions, the amount of ethanol used ranged from 2 to 65 mL. The obliteration of ulceration, hemorrhage, pain, infection, pulsation, and bruit in most of the patients was obtained. The reduction of redness, swelling, and warmth was achieved in all the 16 patients, with down-staging of the Schobinger status for each patient. AVMs were devascularized 100 % in 3 patients, 76–99 % in 7 patients, and 50–75 % in 6 patients, according to the angiographic findings. The most common complications were necrosis and reversible blister. No permanent visual abnormality was found in any of the cases.ConclusionEthanol embolization is efficacious and safe in the treatment of AVMs in the periorbital region and has the potential to be accepted as the primary mode of therapy in the management of these lesions

  12. Gamma-radiosurgery of angiographically occult vascular malformations

    International Nuclear Information System (INIS)

    Since the installation of Gamma-knife, we have treated 26 cases of AOVM (angiographically occult vascular malformations), who had enough follow-up period more than 12 months. There were 16 males and 10 females, whose ages ranged from 3 to 58 years with an average of 32.7. Their clinical presentations at the onset were hemorrhage in 17, seizure in 7, and progressive neurological deficits in 2. Three cases had multiple lesions of AOVM. Among 26 symptomatic lesions, 15 were located supratentorially, 7 in brain stem and 4 in cerebellar hemisphere. AOVMs were treated with radiosurgery at the marginal doses between 15 to 20 Gy (mean 17.9 Gy). Follow-up studies revealed a rebleeding in one after the treatment in the mean follow-up period of 17.7 months. Among 7 cases presented with seizure, 5 were improved and the other 2 showed no change. Imaging studies with MRI showed a major shrinkage in 1, minor shrinkage in 7, and no obvious change in 18. Symptomatic perifocal edema occurred in 5 (19.2%), especially those who were treated at the marginal dose more than 18 Gy. In conclusion our preliminary clinical results indicate that the radiosurgery with Gamma-knife has positive effects to prevent the rebleeding and to control the seizures associated with symptomatic AOVMs. (author)

  13. Perceptual enhancement of arteriovenous malformation in MRI angiography displays

    Science.gov (United States)

    Abhari, Kamyar; Baxter, John S. H.; Eagleson, Roy; Peters, Terry; de Ribaupierre, Sandrine

    2012-02-01

    The importance of presenting medical images in an intuitive and usable manner during a procedure is essential. However, most medical visualization interfaces, particularly those designed for minimally-invasive surgery, suffer from a number of issues as a consequence of disregarding the human perceptual, cognitive, and motor system's limitations. This matter is even more prominent when human visual system is overlooked during the design cycle. One example is the visualization of the neuro-vascular structures in MR angiography (MRA) images. This study investigates perceptual performance in the usability of a display to visualize blood vessels in MRA volumes using a contour enhancement technique. Our results show that when contours are enhanced, our participants, in general, can perform faster with higher level of accuracy when judging the connectivity of different vessels. One clinical outcome of such perceptual enhancement is improvement of spatial reasoning needed for planning complex neuro-vascular operations such as treating Arteriovenous Malformations (AVMs). The success of an AVM intervention greatly depends on fully understanding the anatomy of vascular structures. However, poor visualization of pre-operative MRA images makes the planning of such a treatment quite challenging.

  14. Surgical management of cavernous malformations coursing with drug resistant epilepsy

    Directory of Open Access Journals (Sweden)

    Mario Arturo Alonso-Vanegas

    2012-01-01

    Full Text Available Cerebral cavernous malformations (CM are dynamic lesions characterized by continuous size changes and repeated bleeding. When involving cortical tissue, CM pose a significant risk for the development of drug-resistant epilepsy, which is thought to be result of an altered neuronal network caused by the lesion itself and its blood degradation products. Preoperative evaluation should comprise a complete seizure history, neurological examination, epilepsy-oriented MRI, EEG, video-EEG, completed with SPECT, PET, functional MRI and/or invasive monitoring as needed. Radiosurgery shows variable rates of seizure freedom and a high incidence of complications, thus microsurgical resection remains the optimal treatment for CM coursing with drug-resistant epilepsy.Two thirds of patients reach Engel I class at three-year follow-up, regardless of lobar location. Those with secondarily generalized seizures, a higher seizure frequency, and generalized abnormalities on preoperative or postoperative EEG, show poorer outcomes, while factors such as gender, duration of epilepsy, lesion size, age, bleeding at the time of surgery, do not correlate consistently with seizure outcome. Electrocorticography and a meticulous removal of all cortical hemosiderin –beyond pure lesionectomy– reduce the risk of symptomatic recurrences.

  15. Postoperative MRI evaluation of anorectal malformations with clinical correlation

    International Nuclear Information System (INIS)

    Sixteen postoperative patients with anorectal malformation were evaluated by MRI, and the results compared with the clinical assessment. Patients were classified into three groups - good (group 1, n = 10), fair (group 2, n = 3) and poor (group 3, n = 3) - on the basis of Kelly's clinical score of incontinence. The degree of development of the puborectalis and external sphincter muscles and the levator hammock was evaluated on MRI in comparison with patients without anorectal disease. The proportions of fair or poor development of the muscles were 37% in group 1,22% in group 2 and 67% in group 3. Although fair or poor development of the muscles was seen more frequently in group 3, there was no statistically significant difference between groups. However, poorly developed muscles were seen only in patients with fair or poor clinical scores. The difference in the anorectal angle measured on sagittal MRI images between patients in group 1 and groups 2 or 3 was significant. Our study indicates that MRI evaluation based solely on muscle development can be misleading, and measurement of the anorectal angle should be included in the MRI evaluation. (orig.)

  16. Utility of spinal MRI in children with anorectal malformation

    International Nuclear Information System (INIS)

    The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion. (orig.)

  17. Stereotactic radiosurgery for intracranial arteriovenous malformations: A review

    Directory of Open Access Journals (Sweden)

    Ranjith K Moorthy

    2015-01-01

    Full Text Available Stereotactic radiosurgery (SRS has proven to be an effective strategy in the management of intracranial arteriovenous malformations (AVMs in children and adults over the past three decades. Its application has resulted in lowering the morbidity and mortality associated with treatment of deep-seated AVMs. SRS has been used as a primary modality of therapy as well as in conjunction with embolization and microsurgery in the management of AVMs. The obliteration rate after SRS has been reported to range from 35% to 92%. Smaller AVMs receiving higher marginal doses have obliteration rates of 70% and more. The median follow-up reported in most series is approximately 36–40 months. The median time to obliteration has been reported to be approximately 24–36 months in most series. Radiation-induced neurological complications have been reported in less than 10% of patients, with a 1.5%–6% risk of developing a new permanent neurological deficit. The bleeding rate during the latency to obliteration has been reported to be approximately 5%. This review describes the experience reported in literature with respect to the indications, dosage, factors affecting obliteration rate of AVMs, and complications after SRS.

  18. Evaluation of transcatheter closure for pulmonary arteriovenous malformation

    International Nuclear Information System (INIS)

    Objective: To evaluate the effect of transcatheter closure for pulmonary arteriovenous malformation (PAVM). Methods: 16 consecutive cases of PAVM underwent transcatheter closure of transcatheter coil embolization including 5 of detachable balloon embolization or homemade double-umbrella occluder embolization. Family history, clinical manifestations, analysis of arterial blood gases (ABGs)as well as images of CTA and digital subtraction angiography (DSA)pre-and post-embolizations were retrospectively collected and evaluated by professional specialists. The effects of transcatheter closure were evaluated by the improvement in saturation of O2 (SaO2)and partial pressure of O2 (PaO2)according to statistical analysis of ABGs and the findings of CTA and DSA. All the patients were followed-up for (21±1) months. Results: Primary and secondary technical success rates of this series were 75%(12/16)and 100%, respectively. Mean values of SaO2 and PaO2 before transcatheter closure were (76 ± 5)% and (46 ± 3) mmHg, respectively. Immediately after the interventional procedure, those value of mean SaO2 and PaO2 increased to(94±5)% (P<0.01) and (62±3) mmHg(P<0.05), respectively. And neither recurrence of clinical manifestations nor recanalization was revealed during the follow-up. Conclusions: Transcatheter closure of PAVMs with coils or simultaneously combining with detachable balloon embolization or homemade double-umbrella occluder are all considered safe and effective. (authors)

  19. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2006-07-15

    The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

  20. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging

    International Nuclear Information System (INIS)

    The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

  1. Turner syndrome with spinal hemorrhage due to vascular malformation

    Science.gov (United States)

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Kim, Duk Hee; Kim, Ho-Seong

    2015-01-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS. PMID:26817012

  2. Bisphenol A induces otolith malformations during vertebrate embryogenesis

    Directory of Open Access Journals (Sweden)

    Demeneix Barbara

    2011-01-01

    Full Text Available Abstract Background The plastic monomer and plasticizer bisphenol A (BPA, used for manufacturing polycarbonate plastic and epoxy resins, is produced at over 2.5 million metric tons per year. Concerns have been raised that BPA acts as an endocrine disruptor on both developmental and reproductive processes and a large body of evidence suggests that BPA interferes with estrogen and thyroid hormone signaling. Here, we investigated BPA effects during embryonic development using the zebrafish and Xenopus models. Results We report that BPA exposure leads to severe malformations of the otic vesicle. In zebrafish and in Xenopus embryos, exposure to BPA during the first developmental day resulted in dose-dependent defects in otolith formation. Defects included aggregation, multiplication and occasionally failure to form otoliths. As no effects on otolith development were seen with exposure to micromolar concentrations of thyroid hormone, 17-ß-estradiol or of the estrogen receptor antagonist ICI 182,780 we conclude that the effects of BPA are independent of estrogen receptors or thyroid-hormone receptors. Na+/K+ ATPases are crucial for otolith formation in zebrafish. Pharmacological inhibition of the major Na+/K+ ATPase with ouabain can rescue the BPA-induced otolith phenotype. Conclusions The data suggest that the spectrum of BPA action is wider than previously expected and argue for a systematic survey of the developmental effects of this endocrine disruptor.

  3. Monitoring of congenital malformations in Belarus after the Chernobyl accident

    International Nuclear Information System (INIS)

    An investigation of over 21,000 embryos and fetuses from medically-induced abortions was conducted from 1980 through 1991 in the Republic of Belarus. More than half of the abortions studied were carried out after the Chernobyl nuclear accident, including 1176 from districts with 137Cs soil contamination levels over 0.6 TBq/km2 (15 Ci/km2). Congenital malformations (CM's) in 7325 newborn children also were analyzed. The data on these children were obtained from a genetic monitoring program. It was shown that in the 5 years after the Chernobyl accident the frequency of abnormal developments in aborted fetuses from contaminated areas was significantly higher than in aborted fetuses from Minsk, which was relatively uncontaminated. Additionally, the CM incidence in newborn children increased in Belarus compared to the CM incidences before the accident; the increase was most significant in the heavily contaminated areas. The increases were attributed primarily to CMS characterized by dominant mutations. These increases could have been partially caused by factors unrelated to radiation dose, including defective nourishment, chemical contaminants, and psychological stresses. A correlation between CM increase and the parents' dose has not been established. 17 refs., 6 tabs

  4. Medical image of the week: complex arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Monahan K

    2016-05-01

    Full Text Available No abstract available. Article truncated after 150 words. A 62-year-old man presented to the emergency department complaining of shortness of breath with exertion and mild non-productive cough. The patient was afebrile and physical exam was remarkable only for scattered bilateral rhonchi. White blood cell count was 8,800 K/uL and hematocrit was 51.5%. Room air arterial blood gas (at 1520 meters altitude was pH 7.41, pCO2 42 mm Hg, PO2 45 mm Hg, and O2 saturation 78%. D-dimer was normal at 0.36 ug/ml. Chest radiograph (Figure 1 demonstrated what was interpreted as a right-sided mid/lower lung field infiltrate. The patient was placed on high-flow supplemental oxygen and treatment was initiated with intravenous levofloxacin, methylprednisilone and nebulized beta-agonists. The patient’s oxygenation failed to improve over a period of several days, and a CAT of the chest (Figures 2 was obtained, which demonstrated a very large, right middle lobe, complex pulmonary arteriovenous malformation. The patient was referred to interventional radiology for ...

  5. Phosphorus magnetic resonance spectroscopy in malformations of cortical development

    Directory of Open Access Journals (Sweden)

    Celi Santos Andrade

    2013-07-01

    Full Text Available Introduction Malformations of cortical development (MCD result from disruptions in the dynamic process of cerebral corticogenesis and are important causes of epilepsy, motor deficits and cognitive impairment. Objectives The aim of this study was to evaluate phospholipids metabolism in vivo in a series of patients with epilepsy and MCD. Methods Thirty-seven patients with MCD and 31 control subjects were studied using three-dimensional phosphorus magnetic resonance spectroscopy (31P-MRS at a 3.0 T scanner. Quantification methods were applied to the following resonances: phosphoethanolamine (PE, phosphocholine (PC, glycerophosphoethanolamine (GPE, glycerophosphocholine (GPC, inorganic phosphate (Pi, phosphocreatine (PCr, and a-, b-, and g-adenosine triphosphate (ATP. The magnesium (Mg2+ levels and pH were calculated based on PCr, Pi and b-ATP chemical shifts. Results Compared to controls, the MCD lesions exhibited lower pH values and higher Mg2+ levels (p<0.05. The lesions also presented significant reduction of GPC and PDE, and an increased PME/PDE ratio. The otherwise normal appearing parenchyma also demonstrated lower pH values in the frontoparietal cortex and bilateral centrum semiovale. Conclusions Our data support the idea that metabolic impairments occur in the lesions of MCD, with propagation to remote normal appearing parenchyma. The results also suggest that there are membrane turnover disturbances in MCD lesions.

  6. Absolute Ethanol Embolization of Arteriovenous Malformations in the Periorbital Region

    Energy Technology Data Exchange (ETDEWEB)

    Su, Li-xin, E-mail: sulixin1975@126.com [Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial & Head and Neck Oncology, Ninth People’s Hospital (China); Jia, Ren-Bing, E-mail: jrb19760517@hotmail.com [Shanghai Jiao Tong University School of Medicine, Department of Ophthalmology, Ninth People’s Hospital (China); Wang, De-Ming, E-mail: wdmdeming@hotmail.com; Lv, Ming-Ming, E-mail: lvmingming001@163.com; Fan, Xin-dong, E-mail: fanxindong@aliyun.com [Shanghai Jiao Tong University School of Medicine, Department of Radiology, Ninth People’s Hospital (China)

    2015-06-15

    ObjectiveArteriovenous malformations (AVMs) involving the periorbital region are technically challenging clinical entities to manage. The purpose of the present study was to present our initial experience of ethanol embolization in a series of 16 patients with auricular AVMs and assess the outcomes of this treatment.MethodsTranscatheter arterial embolization and/or direct percutaneous puncture embolization were performed in the 16 patients. Pure or diluted ethanol was manually injected. The follow-up evaluations included physical examination and angiography at 1- to 6-month intervals.ResultsDuring the 28 ethanol embolization sessions, the amount of ethanol used ranged from 2 to 65 mL. The obliteration of ulceration, hemorrhage, pain, infection, pulsation, and bruit in most of the patients was obtained. The reduction of redness, swelling, and warmth was achieved in all the 16 patients, with down-staging of the Schobinger status for each patient. AVMs were devascularized 100 % in 3 patients, 76–99 % in 7 patients, and 50–75 % in 6 patients, according to the angiographic findings. The most common complications were necrosis and reversible blister. No permanent visual abnormality was found in any of the cases.ConclusionEthanol embolization is efficacious and safe in the treatment of AVMs in the periorbital region and has the potential to be accepted as the primary mode of therapy in the management of these lesions.

  7. Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

    OpenAIRE

    Alberto Spalice; Luigi Tarani; Francesca Del Balzo; Francesco Costantino; Enrico Properzi; Natascia Liberato

    2010-01-01

    Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequ...

  8. Profile of gross congenital malformations among live newborns and its associated risk factors from a tertiary care rural teaching institute

    OpenAIRE

    Ashish Marwah; Poonam Marwah

    2016-01-01

    Background: Congenital malformations are defects in morphogenesis during early fetal life. The objective was to study the profile of gross congenital malformations among live newborns and its associated risk factors from a tertiary care rural teaching hospital of north India. Methods: It is a cross- sectional, descriptive. All the babies born in the hospital (live births) during January 2014 to December 2014 formed the baseline population and those with gross congenital malformations were...

  9. QUALITY OF LIFE IN FAMILIES WITH CHILDREN UNDER 2 YEARS OLD AFFLICTED BY CONGENITAL MALFORMATIONS: PERSPECTIVE OF THE MAIN CARETAKER

    OpenAIRE

    BLANCA PATRICIA BALLESTEROS DE VALDERRAMA; MÓNICA MARÍA NOVOA GÓMEZ; LILIANA MUÑOZ; FERNANDO SUÁREZ; IGNACIO ZARANTE

    2006-01-01

    Some results of a larger research aimed to evaluate de quality of life of families with 0 to 2 years old children with genetic malformation are presented. Quality of life was analyzed related to the child’s age, other sociodemographic variables, the parent’s information about the malformation and the clinical characteristics of the diagnostic. A descriptive-correlational design was used, with group comparison by age and type of malformation. The ECLAMC instrument was used for the medical eval...

  10. Recombinant factor VII (NovoSeven) in intraoperative blood saving during neurosurgical treatment of the brain arteriovenous malformation

    OpenAIRE

    Novak Vesna; Petrović Budimir; Čalija Branko; Mitov Ljiljana; Rančić Zoran

    2007-01-01

    Background. Cerebral arteriovenous (AV) malformation causes, due to the increased blood flow through a malformation, a massive intraoperative bleeding complicating, so, surgical treatment. The use of intraoperative blood saving apparatus during surgery and a recombinant factor VII-a (NovoSeven) significantly reduce complications during surgical treatment. Case report. We reported a case of surgical treatment of the patient with AV malformation of IV stage according to the Spetzler-Martin scal...

  11. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

    Science.gov (United States)

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  12. Malformations and mortality in the Asian Common Toad induced by exposure to pleurolophocercous cercariae (Trematoda: Cryptogonimidae).

    Science.gov (United States)

    Jayawardena, Uthpala A; Tkach, Vasyl V; Navaratne, Ayanthi N; Amerasinghe, Priyanie H; Rajakaruna, Rupika S

    2013-06-01

    Malformations and increased mortality due to infection by the digenetic trematode, Riberioa ondatrae have been reported for many species of amphibians. Severe malformations have also been reported in the Common Hourglass Tree Frog, Polypedates cruciger induced by pleurolophocercous cercariae in Sri Lanka in addition to the changes in the behaviour, development and survival of the host. We exposed pre-limb bud stage tadpoles (Gosner stages 25-26) of the Asian Common Toad, Duttaphrynus melanostictus to the same pleurolophocercous type cercariae under laboratory conditions. Molecular and morphological identification showed that these cercariae belonged Acanthostomum burminis infecting freshwater snakes as definitive hosts. These cercariae induced malformations (27.8%) and reduced survival to metamorphosis (53.8%). The magnitude of the effects increased with the dose of cercariae. Types of malformations were mainly axial, such as scoliosis and kyphosis. Severe limb malformations such as extra or missing limbs as reported for amphibians exposed to R. ondatrae were not observed in the D. melanostictus. Same authors reported a higher percentage of malformations previously when P. cruciger was exposed to the cercariae A. burminis compared to D. melanostictus. However, tadpoles of D. melanostictus, which are smaller compared to those of P. cruciger, experienced higher mortality than P. cruciger tadpoles. Trematode induced malformations and mortality in amphibians are highly variable and depend on multiple factors such as host species differences such as resistance to infection and tolerance, life-history characteristics such as size at metamorphosis and length of the metamorphosis period, and other factors such as size of the amphibian at the time of trematode exposure. PMID:23353759

  13. Capillary malformations: a classification using specific names for specific skin disorders.

    Science.gov (United States)

    Happle, R

    2015-12-01

    The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Capillary lesions that perhaps represent naevi are the mesotropic port-wine patch, Carter-Mirzaa macules, unilateral punctate telangiectasia and unilateral naevoid telangiectasia of the patchy type. Capillary malformations that do not represent naevi include X-linked angiokeratoma corporis diffusum (Fabry disease), autosomal dominant angiokeratoma corporis diffusum, hereditary haemorrhagic telangiectasia, hereditary angioma serpiginosusm and the salmon patch. In this way, we are able to discriminate between various non-hereditary capillary naevi such as naevus roseus and the hereditary rhodoid naevus and several hereditary traits that do not represent naevi such as angiokeratoma corporis diffusum and hereditary haemorrhagic telangiectasia; between four different types of port-wine stains, three of them being lateralized and one being mesotropic; between cutis marmorata telangiectatica congenita and congenital livedo reticularis; between telangiectatic naevi and the vasoconstrictive naevus anaemicus; and between two different types of

  14. Surveillance of congenital malformations in Belarus. Chernobyl aftermath

    International Nuclear Information System (INIS)

    Full text: In order to study possible genetic effects of the Chernobyl accident in human population a comparative analysis of the prevalence at birth of congenital malformations (CM) was performed on region and area administrative levels basing on the data of Belarus registry of CM permanently functioning since 1979. An attempt was made to evaluate dose dependence of the effects under study. We analyzed time trends of the prevalence at birth of 9 so called 'mandatory registered' nosologic units of CM. These group of CM could be easily diagnosed within the neonatal period and were assigned for registration at creation of the registry. Over 12 thousand cases registered within the period of 1981 to 2004 in 4 regions as well as about 3 thousand cases found in 47 rayons highly contrasting by radiation exposure were scrutinized. No long-term impact of the Chernobyl release on prevalence rates of surveyed CM was shown. Since the middle 80-s a similar steady increasing trend was observed as in contaminated, as in control areas with a tendency to stabilization after middle 90-s. We fail to reveal a dose dependence for CM prevalence rates calculated for the whole post-accidental period. Nonetheless, during the first years after the accident situation in contaminated areas was notably different from those in the control. Within the period of 1987 to 1989 a significant access of CM prevalence was registered in the strict radiological control area (Cs 137 soil contamination over 555 kBq/m2) as compared to non-contaminated zone. Relative risk was estimated as RR1987-1989 = 1.57 with 95% confidence interval being 95%CI = [1.29; 1.89]. Before the accident no difference in prevalence rates was marked (RR1981-1986 = 0.93; 95%CI = [0.80; 1.09]); nor it was evident in the farther post-accidental period (RR1990-2004 = 0.99; 95%CI = [0.80; 1.09]). Anomalies with high contribution of dominant de novo mutations (polydactyly, reduction defects of limbs and multiple CM) played principal

  15. Radiosurgery with linac based photon knife in cerebral arteriovenous malformation

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    Kim, Jin Hee; Choi, Tae Jin [College of Medicine, Keimyung Univ., Taegu (Korea, Republic of)

    2003-03-01

    The purpose of this study was to analyze the effect of a linear accelerator based Photon Knife Radiosurgery System developed by the staff of Keimyung University Dongsan Medical Center for the treatment of cerebral arteriovenous malformation. Between December 1993 and October 2000, 30 patients with cerebral arteriovenous malformation (AVM) were treated with the Linac based Photon Knife Radiosurgery System in the Department of Therapeutic Radiology at Keimyung University Dongsan Medical Center. The median age was 34, ranging from 7 to 63 years, with a 2: 1 male to female ratio. The locations of the AVM nidi were the frontal lobe (motor cortex), parietal lobe, and the thalamus, in that order. The diameters of the AVM nidi ranged 1.2 to 5.5 cm with a mean of 2.9 cm, and target volumes of between 0.5 and 20.6 cc, with a mean of 6.8 cc. The majority of patients received radiation doses of between 1,500 and 2,500 cGy, with a mean of 2,000 cGy, at 8O% the isodose line. Twenty-five patients were treated with one isocenter, 4 with two, and 1 with four. The follow-up radiological evaluations were performed with cranial computed tomogram (CT) or MRI between 6 month and one year interval, and if the AVM nidus had completely disappeared in the CT or MRI, we confirmed this was a complete obliteration, with a cerebral or magnetic resonance angiogram (MRA). The median follow-up period was 39 months with a range of 10 to 103 months. Twenty patients were radiologically followed up for over 20 months, with complete obliteration observed in 14 (70%). According to the maximal diameter. all four of the small AVM (<2 cm) completely obliterated, 8 of the 10 patients with a medium A VM (2 - 3 cm) showed a complete obliteration, and two showed partial obliteration, Among the patients with a large AVM (>3 cm), only one showed complete obliteration, and 5 showed partial obliteration, but 3 of these underwent further radiosurgery 3 years later. One who followed up for 20 months following

  16. Clinical and neuroradiological features of syringomyelia associated with Chiari malformation

    International Nuclear Information System (INIS)

    The clinical presentation and radiological features were analyzed in 30 cases of syringomyelia associated with Chiari malformation. None of the patients had spinal dysraphism. The age on admission ranged from 6 to 59 years with a mean of 27 years. Syringomyelia was diagnosed by CT myelography and or MRI from 1982 to 1988. The initial symptoms were skeletal abnormality (43%) such as scolisis (12 cases) or pescavus (one case), unilateral pain or numbness (40%) and unilateral motor weakness (17%). Frequently seen signs on admission were sensory deficit (100%), scoliosis (57%), muscle weakness (57%), muscle atrophy (37%) and lower cranial nerve palsy (40%). The neurological findings were asymmetrical in all patients. The characteristic neurological findings in the cases presenting under 20 years of age were unilateral sensory and motor deficits (61%) with decreased or absent deep tendon reflex on the same side. The localization of the syrinx in axial section varied according to the level even in the same case. In 15 cases with unilateral sensory disturbance or unilateral sensory and motor deficit, the syrinx was located in the region corresponding to the posterolateral portion on the same side as that of sensory disturbance in the cervical or thoracic level. On the other hand, in 15 cases with bilateral sensory and motor deficit, the syrinx was located in the central portion and extended into the posterolateral portion of the more affected side. The authors think that the syrinx which originates from the unilateral posterolateral portion, extends to involve the gray matter around the central canal and the posterolateral portion of the other side with progression of the syrinx to cause bilateral disturbance. As a result, unilateral neurological symptoms also become bilateral with progression of the syrinx. (author)

  17. Clinical and neuroradiological features of syringomyelia associated with Chiari malformation

    Energy Technology Data Exchange (ETDEWEB)

    Isu, Toyohiko; Iwasaki, Yoshinobu; Akino, Minoru; Abe, Hiroshi; Tashiro, Kunio; Sudo, Kazumasa; Miyasaka, Kazuo (Hokkaido Univ., Sapporo (Japan). School of Medicine); Saito, Hisatoshi

    1990-01-01

    The clinical presentation and radiological features were analyzed in 30 cases of syringomyelia associated with Chiari malformation. None of the patients had spinal dysraphism. The age on admission ranged from 6 to 59 years with a mean of 27 years. Syringomyelia was diagnosed by CT myelography and or MRI from 1982 to 1988. The initial symptoms were skeletal abnormality (43%) such as scolisis (12 cases) or pescavus (one case), unilateral pain or numbness (40%) and unilateral motor weakness (17%). Frequently seen signs on admission were sensory deficit (100%), scoliosis (57%), muscle weakness (57%), muscle atrophy (37%) and lower cranial nerve palsy (40%). The neurological findings were asymmetrical in all patients. The characteristic neurological findings in the cases presenting under 20 years of age were unilateral sensory and motor deficits (61%) with decreased or absent deep tendon reflex on the same side. The localization of the syrinx in axial section varied according to the level even in the same case. In 15 cases with unilateral sensory disturbance or unilateral sensory and motor deficit, the syrinx was located in the region corresponding to the posterolateral portion on the same side as that of sensory disturbance in the cervical or thoracic level. On the other hand, in 15 cases with bilateral sensory and motor deficit, the syrinx was located in the central portion and extended into the posterolateral portion of the more affected side. The authors think that the syrinx which originates from the unilateral posterolateral portion, extends to involve the gray matter around the central canal and the posterolateral portion of the other side with progression of the syrinx to cause bilateral disturbance. As a result, unilateral neurological symptoms also become bilateral with progression of the syrinx. (author).

  18. Endovascular treatment of head and neck arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Dmytriw, A.A. [University Health Network, Joint Department of Medical Imaging, Toronto, Ontario (Canada); Ter Brugge, K.G.; Krings, T.; Agid, R. [Toronto Western Hospital, Division of Neuroradiology, Department of Medical Imaging, Toronto, Ontario (Canada)

    2014-03-15

    Head and neck arteriovenous malformations (H and N AVM) are associated with considerable clinical and psychosocial burden and present a significant treatment challenge. We evaluated the presentation, response to treatment, and outcome of patients with H and N AVMs treated by endovascular means at our institution. Patients with H and N AVMs treated by endovascular means from 1984 to 2012 were evaluated retrospectively. These included AVMs involving the scalp, orbit, maxillofacial, and upper neck localizations. Patient's clinical files, radiological images, catheter angiograms, and surgical reports were reviewed. Eighty-nine patients with H and N AVMs (46 females, 43 males; 48 small, 41 large) received endovascular therapy. The goals of treatment were curative (n = 30), palliative (n = 34), or presurgical (n = 25). The total number of endovascular treatment sessions was 244 (average of 1.5 per patient). The goal of treatment was met in 92.1 % of cases. Eventual cure was achieved in 42 patients accounting for 58.4 % (52/89) of all patients who underwent treatment for any goal. Twenty-eight of these patients were cured by embolization alone (28/89, 31.4 %) of which 18 were single-hole AVFs. Twenty-four were cured by planned surgical excision after presurgical embolization (24/89, 27 %). Seven patients (7/89, 7.2 %) suffered transient and two (2/89, 2.2 %) permanent endovascular treatment complications. Endovascular treatment is effective for H and N AVMs and relatively safe. It is particularly effective for symptom palliation and presurgical aid. Embolization is curative mostly in small lesions and single-hole fistulas. In patients with large non-curable H and N AVMs, endovascular therapy is often the only palliative option. (orig.)

  19. Clinical presentations and MRI findings of angiographically occult vascular malformations

    International Nuclear Information System (INIS)

    Various clinical features as well as MRI findings of AOVM (angiographically occult vascular malformation) were studied. Amongst out patients, since January 1988, there have been 30 cases of symptomatic AOVM (20 males, 10 females) including 4 cases with multiple lesions. The age ranged from 3 to 60 years of age, with a mean of 33.4 years. The locations of symptomatic lesions were in the cerebral hemisphere (15), the thalamus (4), the brain stem (8) and in the cerebellum (3). The initial presentations of these 30 cases were either by hemorrhage (18), convulsive seizure (9) or by progressive neurological deficits (3). The initial presentation was not related to the patient's age and the size of the lesion, but apparently related to the location of AOVM. Most of the lesions in the cerebral hemisphere presented seizures, but all of the lesions in the thalamus, the brain stem and the cerebellum disclosed hemorrhage as an initial presentation. In fact it was noticed that brain stem lesions tend to cause repetitive hemorrhage in a relatively short period. AOVM lesions were clearly visualized with T2-weighted MRI images, consisting of high intensity cores with surrounding low intensity rims. Most of the symptomatic lesions were partially enhanced by Gd-DTPA with varied intensity. Dynamic changes in size and enhancement pattern on MRI were occasionally seen, usually accompanied with episodes such as hemorrhage or neurological deterioration. Although AOVMs were angiographically negative some strands indicating draining veins were observed on MRI in several cases. In contrast, none of the nonsymptomatic lesions (22 lesions) demonstrated enhancement effects with Gd-DTPA. (author)

  20. Outcome of cerebral arteriovenous malformations after linear accelerator reirradiation

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    Paulo L Moraes

    2015-01-01

    Full Text Available Background: The aim of this study was to evaluate the clinical outcome of patients undergoing single-dose reirradiation using the Linear Accelerator (LINAC for brain arteriovenous malformations (AVM. Methods: A retrospective study of 37 patients with brain AVM undergoing LINAC reirradiation between April 2003 and November 2011 was carried out. Patient characteristics, for example, gender, age, use of medications, and comorbidities; disease characteristics, for example, Spetzler-Martin grading system, location, volume, modified Pollock-Flickinger score; and treatment characteristics, for example, embolization, prescription dose, radiation dose-volume curves, and conformity index were analyzed. During the follow-up period, imaging studies were performed to evaluate changes after treatment and AVM cure. Complications, such as edema, rupture of the blood-brain barrier, and radionecrosis were classified as symptomatic and asymptomatic. Results: Twenty-seven patients underwent angiogram after reirradiation and the percentage of angiographic occlusion was 55.5%. In three patients without obliteration, AVM shrinkage made it possible to perform surgical resection with a 2/3 cure rate. A reduction in AVM nidus volume greater than 50% after the first procedure was shown to be the most important predictor of obliteration. Another factor associated with AVM cure was a prescription dose higher than 15.5 Gy in the first radiosurgery. Two patients had permanent neurologic deficits. Factors correlated with complications were the prescription dose and maximum dose in the first procedure. Conclusion: This study suggests that single-dose reirradiation is safe and feasible in partially occluded AVM. Reirradiation may not benefit candidates whose prescribed dose was lower than 15.5 Gy in the first procedure and initial AVM nidus volume did not decrease by more than 50% before reirradiation.

  1. Multimodality treatment for large and critically located arteriovenous malformations

    International Nuclear Information System (INIS)

    To define the current status of the multimodality treatment for large and critically located arteriovenous malformations (AVMs), we have made a retrospective review of 54 consecutive patients with Spetzler-Martin grade IV and V AVMs. The size of nidus is larger than 3 cm in diameter in all cases. Initially, all but one were treated by nidus embolization with the aim of size reduction. Only one patient had complete nidus occlusion by embolization alone. In 52 patients, the obliteration rate of nidus volume averaged 60% after embolization. Ten patients underwent complete surgical resection of AVMs following embolization with no postoperative neurological deterioration. Thirty-one patients underwent stereotactic radiosurgery following embolization. At the time of this analysis, 30 patients underwent follow-up angiography 2-3 years after radiosurgery. The results of radiosurgery correlated well with the preradiosurgical AVM volume. Of 16 patients with small residual AVMs (3, a mean volume of 4.7 cm3), nine (56%) had complete obliteration, and six (38%) had near-total or subtotal obliteration by 3 years after radiosurgery. In contrast, of 14 patients with large residual AVMs (≥10 cm3, a mean volume of 17.9 cm3), only two (14%) had complete obliteration, and eight (57%) had near-total or subtotal obliteration. Repeat radiosurgery was performed for the patients with remaining AVMs at 3-year follow-up review. This study indicates that a certain number of large and critically located AVMs can be safely treated by either microsurgery or radiosurgery following a significant volume reduction by nidus embolization. The present data also suggest the need and possible role of repeat radiosurgery in improving complete obliteration rate of large difficult AVMs, since many of those AVMs have significantly responded to initial radiosurgery. (author)

  2. Dandy-walker malformation: A clinical and surgical outcome analysis

    International Nuclear Information System (INIS)

    Objective: To determine the clinical presentations, complications and mortality in patients with Dandy-Walker Malformation (DWM) after surgery i.e., shunt with y-connector. Study Design: Case series. Place and duration of study: Neurosurgery Ward, JPMC, Karachi, from January 2009 to December 2013. Methodology: Cases of DWM, with associated hydrocephalus, further confirmed on CT scan of brain, were admitted through OPD. Those who were previously operated, those with other associated co-morbid or anomalies were excluded from this study. Combined drainage of the ventricular system and posterior fossa cyst, via dual shunt i.e. cystoperitoneal and ventriculoperitoneal shunt with y-connector was performed in all patients. Complications and mortality after surgical intervention in these patients were noted upto one month after surgery. The data analysis for descriptive statistics was done on SPSS version 20. Results: In this study of 70 patients, majority of the patients were female aged between 1 - 2 years. Hydrocephalus was the predominant symptom as being present in all patients, followed by cerebellar signs in 60 (86%), and other in 5 (7.14%) patients. Complications of surgery were infection and shunt fracture dislocation in 7 (10%) each, malpositioning and shunt blockage in 6 (8.5%) each within one month of surgery, intracranial haemorrhage in 5 (7.14%) patients. Only one patient (1.42%) expired after surgical intervention. Conclusion: In DWM, the commonest presentation is that of hydrocephalus. Shunt malfunction and infection are the commonest complication after shunting. Dual shunt with y-connector has the lowest mortality when compared with other methods for treatment of shunt with y-connector. (author)

  3. Radiologic diagnosis and treatment of iatrogenic acquired uterine arteriovenous malformation

    International Nuclear Information System (INIS)

    To analyze gray-scale US, color and duplex Doppler US, and angiographic findings in patients with acquired uterine arteriovenous malformations (AVMs), and to evaluate the usefulness of these modalities in the diagnosis of this disease and the effect of transcatheter arterial embolization in its treatment. During a recent seven-year period, we diagnosed 21 cases of acquired uterine AVM. Nineteen of these patients had a history of causative D and C (between one and seven D and C procedures per patient), one had a history of causative cesarean section, and one had cervical conization. All patients underwent transabdominal and endovaginal gray-scale, color Doppler, and duplex Doppler US and angiography, with therapeutic embolization of bilateral uterine arteries. The majority underwent follow-up Doppler US after embolization. The gray-scale US morphology of uterine AVMs included subtle myometrial inhomogeneity and multiple distinct, small anechoic spaces in the thickened myometrium or endometrium. Color Doppler US showed a tangle of tortuous vessels with multidirectional, high-velocity arterial flow, which was focally or asymmetrically distributed. Duplex Doppler US depicted a waveform of fast arterial flow with low resistance, while angiography demonstrated a complex tangle of vessels supplied by enlarged uterine arteries, in association with early venous drainage during the arterial phase, and staiss of contrast medium within abnormal vasculature. Where AVMs were combined with a pseudoaneurysm, this finding was observed. Transcatheter arterial embolization provided a complete cure, without recurrence. Color and duplex Doppler US in an appropriate modality for the detection and diagnosis of uterine AVMs and for follow-up after embolization. Transcatheter arterial embolization is a safe and effective method of treating this disease

  4. Cochlear implantation in patients with inner ear bone malformations with posterior labyrinth involvement: an exploratory study.

    Science.gov (United States)

    Palomeque Vera, Juan Miguel; Platero Sánchez-Escribano, María; Gómez Hervás, Javier; Fernández Prada, María; González Ramírez, Amanda Rocío; Sainz Quevedo, Manuel

    2016-04-01

    Inner ear bone malformations are one cause of profound sensorineural hearing loss. This investigation focused on those affecting the posterior labyrinth, especially enlarged vestibular aqueduct syndrome, which is associated with fluctuating and progressive hearing loss. The objectives of this study were to analyze the behavior of the electrical stimulation, auditory functionality and linguistic development in patients with inner ear malformations involving the posterior labyrinth. The study included ten patients undergoing cochlear implantation (cases: five with enlarged vestibular aqueduct, two with vestibular aqueduct stenosis/aplasia, and three with semicircular canal disorders). Post-implantation, data were gathered on the electrical stimulation threshold and maximum comfort levels and on the number of functioning electrodes. Evaluation of Auditory Responses to Speech (EARS) subtests were used to assess auditory functionality and language acquisition at 6, 12, and 24 months post-implantation. Results were compared with findings in a control group of 28 cochlear implantation patients without these malformations. No significant differences were found between case and control groups in electrical stimulation parameters; auditory functionality subtest scores were lower in cases than controls, although the difference was only statistically significant for some subtests. In conclusion, cochlear implantation patients with posterior labyrinth bone malformations and profound hearing loss, including those with enlarged vestibular aqueduct syndrome, showed no significant difference in electrical stimulation threshold with controls. Although some auditory functionality test results were lower in cases than in controls, cochlear implantation appears to be beneficial for all patients with these malformations. PMID:25971996

  5. Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

    Energy Technology Data Exchange (ETDEWEB)

    Braun, Petra; Grau, Francisco Vercher; Pons, Raul Mut; Enguix, Daniel Perez

    2005-02-01

    Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended.

  6. Differentiation of vascular birthmarks by MR imaging: An investigation of hemangiomas, venous and lymphatic malformations

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    Kern, S.; Merz, C.; Laubenberger, J.; Uhl, M. [Univ. Hospital, Freiburg (Germany). Dept. of Diagnostic Radiology; Niemeyer, C. [Univ. Hospital, Freiburg (Germany). Dept. of Pediatrics; Darge, K. [Univ. Hospital, Heidelberg (Germany). Dept. of Radiology

    2000-09-01

    Purpose: To evaluate the use of MR imaging using standard sequences in the differentiation of common vascular birthmarks of soft tissues in childhood. Material and Methods: Forty-three lesions in 37 children (median age 33 months) with hemangiomas (n=25), venous (n=8) and lymphatic (n=10) malformations were retrospectively studied. Images were obtained with a 0.2 T and a 1.5 T MR unit, using T1-weighted spin-echo, T2-weighted turbo spin-echo and turbo STIR sequences. In addition, 19 contrast studies were evaluated. Signal intensities and morphological characteristics were analyzed. Results: All hemangiomas were hyperintense in T2-weighted, and mostly (22/25) isointense compared to the surrounding skeletal muscle in T1-weighted images. The lesions were homogeneous or mildly inhomogeneous and well defined. Venous and lymphatic malformations showed similar patterns. Contrary to other lesions, no vessels or lobular architecture were detectable and contrast enhancement was absent in lymphatic malformations. Conclusion: A reliable differentiation between hemangiomas, venous and lymphatic malformations in childhood is not possible by standard MR sequences alone. Contrast media may be helpful as lymphatic malformations show no contrast enhancement. The main role of MR imaging is to determine the local extent or infiltration of deeper tissue layers and narrow the differential diagnosis of other soft tissue tumors.

  7. Differentiation of vascular birthmarks by MR imaging: An investigation of hemangiomas, venous and lymphatic malformations

    International Nuclear Information System (INIS)

    Purpose: To evaluate the use of MR imaging using standard sequences in the differentiation of common vascular birthmarks of soft tissues in childhood. Material and Methods: Forty-three lesions in 37 children (median age 33 months) with hemangiomas (n=25), venous (n=8) and lymphatic (n=10) malformations were retrospectively studied. Images were obtained with a 0.2 T and a 1.5 T MR unit, using T1-weighted spin-echo, T2-weighted turbo spin-echo and turbo STIR sequences. In addition, 19 contrast studies were evaluated. Signal intensities and morphological characteristics were analyzed. Results: All hemangiomas were hyperintense in T2-weighted, and mostly (22/25) isointense compared to the surrounding skeletal muscle in T1-weighted images. The lesions were homogeneous or mildly inhomogeneous and well defined. Venous and lymphatic malformations showed similar patterns. Contrary to other lesions, no vessels or lobular architecture were detectable and contrast enhancement was absent in lymphatic malformations. Conclusion: A reliable differentiation between hemangiomas, venous and lymphatic malformations in childhood is not possible by standard MR sequences alone. Contrast media may be helpful as lymphatic malformations show no contrast enhancement. The main role of MR imaging is to determine the local extent or infiltration of deeper tissue layers and narrow the differential diagnosis of other soft tissue tumors

  8. Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

    International Nuclear Information System (INIS)

    Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended

  9. Preoperative diagnosis and surgical strategy in congenital auditory ossicular malformation of 26 ears

    International Nuclear Information System (INIS)

    We retrospectively analyzed 26 ears of 21 subjects having auditory ossicular malformation and who had undergone auditory reconstruction between April 2004 and December 2010 at our clinic. We checked preoperative condition, pathological classification, surgical procedure, and hearing improvement. We could predict pathological conditions precisely from preoperative computed tomography (CT), including incudostapedial disconnection (9/12, 75%) and malleus and/or incus fixation (7/12, 58%), which tended to be present in external ear malformation, and stapes footplate fixation (0/12, 0%). We could not, however, predict complex malformation (0/8, 0%). Overall success was 90% (18/20) in the 20 ears observed for at least 1 year. In the 2 ears without improved hearing, the first had congenital cholesteatoma and no stapes superstructure, was treated with type IV tympanoplasty. The second had malleus, incus, and stapes fixation and discontinuity between the incus and stapes, and was treated with type III tympanoplasty and stapes mobilization. Preoperative diagnosis is difficult in mixed congenital auditory ossicular malformation, especially stapes footplate fixation, possibly requiring unexpected procedures, with a poor hearing outcome. Preoperative status must thus be evaluated precisely using hearing, tympanometry, acoustic reflex test, and CT. Temporal bone CT and external ear findings are useful in diagnosing middle-ear malformation. Subjects' informed consent should also be obtained due to the possible need for changing procedure based on findings during surgery. (author)

  10. Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation

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    Woitek, Ramona; Prayer, Daniela; Weber, Michael; Schoepf, Veronika; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor [Medical University of Vienna, Department of Biomedical Imaging and Image-guided Therapy, Vienna (Austria); Amann, Gabriele [Medical University of Vienna, Department of Clinical Pathology, Vienna (Austria); Seidl, Rainer [Medical University of Vienna, Department of Paediatrics and Adolescent Medicine, Vienna (Austria); Bettelheim, Dieter [Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna (Austria); Brugger, Peter C. [Medical University of Vienna, Center for Anatomy and Cell Biology, Vienna (Austria)

    2016-05-15

    This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm{sup 2}, 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p =.003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. (orig.)

  11. Laser therapy and sclerotherapy in the treatment of oral and maxillofacial hemangioma and vascular malformations

    Science.gov (United States)

    Crişan, Bogdan; BǎciuÅ£, Mihaela; BǎciuÅ£, Grigore; Crişan, Liana; Bran, Simion; Rotar, Horatiu; Moldovan, Iuliu; Vǎcǎraş, Sergiu; Mitre, Ileana; Barbur, Ioan; Magdaş, Andreea; Dinu, Cristian

    2016-03-01

    Hemangioma and vascular malformations in the field of oral and maxillofacial surgery is a pathology more often found in recent years in patients. The aim of this study was to evaluate the efficacy of the laser photocoagulation performed with a diode laser (Ga-Al-As) 980 nm wavelength in the treatment of vascular lesions which are located on the oral and maxillofacial areas, using color Doppler ultrasonography for evaluation of the results. We also made a comparison between laser therapy and sclerotherapy in order to establish treatment protocols and recommendations associated with this pathology. We conducted a controlled study on a group of 92 patients (38 male and 54 female patients, with an average age of 36 years) having low flow hemangioma and vascular malformations. Patients in this trial received one of the methods of treatment for vascular lesions such as hemangioma and vascular malformations: laser therapy or sclerotherapy. After laser therapy we have achieved a reduction in size of hemangioma and vascular malformations treated with such a procedure, and the aesthetic results were favorable. No reperfusion or recanalization of laser treated vascular lesions was observed after an average follow-up of 6 to 12 months. In case of sclerotherapy a reduction in the size of vascular lesions was also obtained. The 980 nm diode laser has been proved to be an effective tool in the treatment of hemangioma and vascular malformations in oral and maxillofacial area. Laser therapy in the treatment of vascular lesions was more effective than the sclerotherapy procedure.

  12. An enlarged intramuscular venous malformation in the femoral region successfully treated with complete resection

    Science.gov (United States)

    Murakami, Takuo; Ogata, Dai; Miyano, Kyohei; Tsuchida, Tetsuya

    2016-01-01

    Introduction Intramuscular venous malformations have been previously described as intramuscular hemangiomas, and various therapies have been applied for their treatment. This condition is relatively rare, and therefore, physicians often struggle to determine the appropriate therapy. We presented a case of an enlarged intramuscular venous malformation relapsed after surgery successfully treated with complete resection. Presentation of case We presented a case of an enlarged intramuscular venous malformation with postoperative recurrence successfully treated with complete resection. A 63-year-old woman presented with a subcutaneous mass in the right distal thigh. She experienced swelling in the right thigh 19 years previously and was diagnosed with a venous aneurysm. Three-dimensional CT angiography confirmed the presence of an irregular vessel assumed to be the feeding vessel, which was dendritically branched from the deep femoral artery. We performed surgical complete resection. Her pain and gait disturbance improved after surgery, and she has not experienced recurrence of the mass for the past 2 years. Discussion Conservative therapy is initially used for venous malformations. Sclerotherapy, laser therapy, or surgical resection is considered after low-dose aspirin therapy, in combination with the use of compressive garments. Surgical resection is indicated for completely resectable lesions and is appropriate for large lesions in terms of cosmetic benefit. However, partial resection may result in excessive bleeding or postoperative recurrence. Conclusion The therapy for venous malformations should be decided based on the degree of disability in daily living, adjacent tissue damage, and cosmetic concerns after appropriate differential diagnostic investigations and biopsy. PMID:26945489

  13. Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations

    International Nuclear Information System (INIS)

    To evaluate the efficacy and safety of gelified ethanol, a newly developed sclerosing agent for slow-flow vascular malformations. Seventy-nine sclerotherapy procedures were performed on 44 patients with 37 venous malformations, 2 glomuvenous malformations, 2 lymphatic malformations, 2 lymphatico-venous malformations, and 1 Klippel-Trenaunay syndrome. The median injected volume was 1.00 mL/site of injection. Effects of sclerotherapy on pain, functional and cosmetic disturbance were statistically evaluated with a final result score. Local and systemic complications were recorded. The mean Visual Analogue Scores were 5.20 ± 2.81 before and 1.52 ± 1.25 after treatment (p < 0.001). Functional and aesthetic improvement was achieved in 31/35 patients (89%) and in 33/41 (80%), respectively. Minor local side effects included necrosis with or without issue of ethylcellulose, palpable residue, and hematoma. No systemic side-effects occurred. Per mL used, radio-opaque gelified ethanol is at least as effective as absolute ethanol. No systemic complication was observed, as only a low dose of ethanol was injected. Indications for sclerotherapy can be widened to areas with higher risk for local side effects (hands and periocular region), as ethanol is trapped in the lesion. Careful injection procedure is though necessary, because only a limited amount of ethylcellulose can be used per puncture. (orig.)

  14. Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Dompmartin, Anne; Barrellier, Marie-Therese [Universite de Caen Basse Normandie, CHU Caen, Department of Dermatology, Caen (France); Blaizot, Xavier; Chene, Yannick; Gaillard, Cathy [Universite de Caen Basse Normandie, CHU Caen, Clinical Research and Biostatistical Unit, Caen (France); Theron, Jacques [Universite de Caen Basse Normandie, CHU Caen, Neuroradiology, Caen (France); Hammer, Frank [Universite Catholique de Louvain, Cliniques Universitaires St Luc, Department of Vascular and Interventional Radiology, Center for Vascular Anomalies, Brussels (Belgium); Labbe, Daniel [Universite de Caen Basse Normandie, CHU Caen, Plastic Surgery, Caen (France); Leroyer, Robert; Chedru, Valerie; Ollivier, Catherine [Universite de Caen Basse Normandie, CHU Caen, Pharmacy Department, Caen (France); Vikkula, Miikka [Universite catholique de Louvain, de Duve Institute, Laboratory of Human Molecular Genetics, Brussels (Belgium); Boon, Laurence M. [Universite Catholique de Louvain, Cliniques Universitaires St Luc, Division of Plastic Surgery, Center for Vascular Anomalies, Brussels (Belgium); Universite catholique de Louvain, de Duve Institute, Laboratory of Human Molecular Genetics, Brussels (Belgium)

    2011-12-15

    To evaluate the efficacy and safety of gelified ethanol, a newly developed sclerosing agent for slow-flow vascular malformations. Seventy-nine sclerotherapy procedures were performed on 44 patients with 37 venous malformations, 2 glomuvenous malformations, 2 lymphatic malformations, 2 lymphatico-venous malformations, and 1 Klippel-Trenaunay syndrome. The median injected volume was 1.00 mL/site of injection. Effects of sclerotherapy on pain, functional and cosmetic disturbance were statistically evaluated with a final result score. Local and systemic complications were recorded. The mean Visual Analogue Scores were 5.20 {+-} 2.81 before and 1.52 {+-} 1.25 after treatment (p < 0.001). Functional and aesthetic improvement was achieved in 31/35 patients (89%) and in 33/41 (80%), respectively. Minor local side effects included necrosis with or without issue of ethylcellulose, palpable residue, and hematoma. No systemic side-effects occurred. Per mL used, radio-opaque gelified ethanol is at least as effective as absolute ethanol. No systemic complication was observed, as only a low dose of ethanol was injected. Indications for sclerotherapy can be widened to areas with higher risk for local side effects (hands and periocular region), as ethanol is trapped in the lesion. Careful injection procedure is though necessary, because only a limited amount of ethylcellulose can be used per puncture. (orig.)

  15. Sphincter saving anorectoplasty (SSARP for the reconstruction of Anorectal malformations

    Directory of Open Access Journals (Sweden)

    Paudel Bishnu

    2007-09-01

    Full Text Available Abstract Background This report describes a new technique of sphincter saving anorectoplasty (SSARP for the repair of anorectal malformations (ARM. Methods Twenty six males with high ARM were treated with SSARP. Preoperative localization of the center of the muscle complex is facilitated using real time sonography and computed tomography. A soft guide wire is inserted under image control which serves as the route for final pull through of bowel. The operative technique consists of a subcoccygeal approach to dissect the blind rectal pouch. The separation of the rectum from the fistulous communication followed by pull through of the bowel is performed through the same incision. The skin or the levators in the midline posteriorly are not divided. Postoperative anorectal function as assessed by clinical Wingspread scoring was judged as excellent, good, fair and poor. Older patients were examined for sensations of touch, pain, heat and cold in the circumanal skin and the perineum. Electromyography (EMG was done to assess preoperative and postoperative integrity of external anal sphincter (EAS. Results The patients were separated in 2 groups. The first group, Group I (n = 10, were newborns in whom SSARP was performed as a primary procedure. The second group, Group II (n = 16, were children who underwent an initial colostomy followed by delayed SSARP. There were no operative complications. The follow up ranged from 4 months to 18 months. Group I patients have symmetric anal contraction to stimulation and strong squeeze on digital rectal examination with an average number of bowel movements per day was 3–5. In group II the rate of excellent and good scores was 81% (13/16. All patients have an appropriate size anus and regular bowel actions. There has been no rectal prolapse, or anal stricture. EAS activity and perineal proprioception were preserved postoperatively. Follow up computed tomogram showed central placement the pull through bowel in between

  16. Increased expression of osteopontin in brain arteriovenous malformations

    Institute of Scientific and Technical Information of China (English)

    XU Hong-zhi; QIN Zhi-yong; GU Yu-xiang; ZHOU Ping; XU Feng; CHEN Xian-cheng

    2012-01-01

    Background The precise mechanisms responsible for the development and growth of intracranial arteriovenous malformations (AVMs) remain unclear.Osteopontin (OPN) is a phosphorylated glycoprotein with diverse functions.This study aimed to analyze the expression of OPN in human brain AVMs.Methods The AVM nidus was surgically obtained from patients with AVM,whereas control brain artery specimens were surgically obtained from patients with epilepsy.Reverse transcription-polymerase chain reaction (RT-PCR) was used to examine the expression of OPN mRNA in biopsy specimens.OPN protein expression was localized by immunohistochemistry.The statistical differences between different groups were assessed by two-way analysis of variance (ANOVA).Results We analyzed 36 brain AVM specimens and 8 control brain artery specimens.Eleven patients with brain AVM received embolization treatment,and five underwent gamma knife radiotherapy before resection.Nineteen patients with brain AVM had a history of hemorrhage from AVMs.The expression of OPN mRNA was significantly higher in AVMs than that in the control specimens (25.76±2.71 vs.21.46±2.01,P <0.01).There was no statistically significant difference in the extent of OPN mRNA expression between the AVM group with and that without history of hemorrhage (26.13±2.45 vs.25.34±2.99) or gamma knife radiotherapy (24.39±2.10 vs.24.53±1.85).However,the difference between the AVM group with and that without embolization treatment history was statistically significant (24.39±2.10 vs.28.80±1.13,P <0.01).In the group with gamma knife radiotherapy history,OPN expression was found in arteries with early-stage radio-effect.Conclusions OPN may contribute to the vascular instability of brain AVMs.It may play an important role in the pathophysiological process related to embolization treatment.

  17. Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

    Science.gov (United States)

    Welshimer, K; Swift, M

    1982-09-01

    Heterozygous carriers of an ataxia-telangiectasia (A-T), Fanconi anemia (FA), or xeroderma pigmentosum (XP) gene may be predisposed to some of the same congenital malformations or developmental disabilities that are common among homozygotes. To test this hypothesis, medical records, death certificates, and questionnaires from 27 A-T families, 25 FA families, and 31 XP families were reviewed. Eleven XP blood relatives (out of 1,100) were found with moderate or severe unexplained mental retardation, a significant excess compared to the FA and A-T families (3/1,439). There were four microcephalic XP blood relatives and none in the FA or A-T families. In the A-T families, idiopathic scoliosis and vertebral anomalies were in excess, while genitourinary and distal limb malformations were found in the FA families. A-T, FA, or XP heterozygotes may constitute an important proportion of individuals at risk for specific malformations or developmental abnormalities. PMID:7124732

  18. Clinical-radiological evaluation of sequelae of stereotactic radiosurgery for intracranial arteriovenous malformations

    International Nuclear Information System (INIS)

    Stereotactic heavy-charged-particle Bragg peak radiosurgery has been used to treat 322 patients with surgically-inaccessible intracranial vascular malformations. (The clinical results of this method for the treatment of angiographically demonstrable arteriovenous malformations (AVMs) and angiographically occult vascular malformations (AOVMs) of the brain are described in separate reports of this symposium). The great majority of patients have had an uneventful post-treatment course with satisfactory health outcomes. However, several categories of delayed sequelae of stereotactic radiosurgery have been identified, involving the vascular structures essential for the integrity of the brain tissue and the brain parenchyma directly. These categories reflect both reaction to injury and to alterations in regional hemodynamic status, and include vasogenic edema, occlusion of functional vasculature, radiation necrosis, and local or remote effects on cerebral arterial aneurysms. 10 refs., 7 figs., 1 tab

  19. Congenital malformations and damage in early infancy of the central nervous system

    International Nuclear Information System (INIS)

    Congenital malformations and cerebral damage in early infancy cause complex morphological and clinical changes. Modern imaging techniques, and especially NMR, have provided deeper knowledge of these diseases in the past few years. Based on the neuroradiological findings, the book presents a complete picture of congenital malformations of the central nervous systems and cerebral damage in early infancy; it describes the underlying pathomechanisms, clinical symptoms and therapies. Neurologists and neuropaediatricians are enabled to diagnose malformations correctly and to develop optimal therapy strategies in cooperation with other medical disciplines. Neuroradiologists and radiologists, on the other hand, will find a manual for correct interpretation and differential diagnosis of their findings and a guide for interpreting the findings and deciding further therapeutic or diagnostic interventions. (orig.)

  20. Pulmonary arteriovenous malformations presenting as difficult-to-control asthma: a case report

    Directory of Open Access Journals (Sweden)

    Navratil Marta

    2013-01-01

    Full Text Available Abstract Introduction Although pulmonary arteriovenous malformations are relatively rare disorders, they are an important part of the differential diagnosis of common pulmonary problems, such as hypoxemia, dyspnea on exertion and pulmonary nodules. Case presentation An 11-year-old Croatian boy of Mediterranean origin with a history of asthma since childhood was admitted to our hospital for evaluation of difficult-to-control asthma during the previous six months. A chest X-ray showed a homogeneous soft tissue mass in the lingual area. Computed tomography angiography of the thorax showed two pulmonary arteriovenous malformations, one on each side of the lungs. Diagnosis of hereditary hemorrhagic telangiectasia was made clinically by Curaçao criteria. Genetic analysis revealed a mutation in the endoglin gene. The patient was treated with embolotherapy with good clinical outcome. Conclusion We present a case of pulmonary arteriovenous malformations masquerading as refractory asthma.

  1. Congenital malformation and fetal mortality trends in counties surrounding Oak Ridge

    International Nuclear Information System (INIS)

    Stillbirth and congenital malformation death data have been evaluated for counties surrounding the Oak Ridge nuclear facilities. The observed values were compared with expected values, based on state of Tennessee and East Tennessee rates, for three time periods: prior to the existence of the nuclear facilities; the early years of operation; and the later years of operation. Oak Ridge, which is the closest city to the nuclear facilities, had significantly fewer stillbirths and no difference in congenital malformations as compared with the state or East Tennessee. No time trend was observed in the 8-county data which could be associated with the higher levels of radioactive releases during the 1944 to 1957 period followed by a period of lesser releases in the 1958 to 1971 period. However, a clustering of stillbirths was found for the last time period. In the study, no significant relationship was found between the occurrence of stillbirths and congenital malformation deaths

  2. Giant congenital malformation of the perirectal plexus in computed tomography imaging – case report

    International Nuclear Information System (INIS)

    Congenital arteriovenous malformation (AVM) in the pelvic area is uncommon in males. The described case is of a giant lesion of this type that caused recurrent hemorrhaging in the lower part of the gastrointestinal tract. Preliminary diagnosis of vascular pathology was made on the basis of an endoscopic examination that revealed numerous pulsating protuberances of the rectal wall, in which blood flow was identified by means of transrectal ultrasonography. Complementing the diagnostics with a CT revealed a considerable extent of malformation, as well as its morphology and anatomical relations with the surrounding tissues. Following a two-year follow-up period, the malformation did not progress or demonstrate any intensification of clinical symptoms, therefore the patient continues to undergo conservative treatment

  3. Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog.

    Directory of Open Access Journals (Sweden)

    Susan P Knowler

    Full Text Available This study aimed to develop a system of quantitative analysis of canine Chiari-like malformation and syringomyelia on variable quality MRI. We made a series of measurements from magnetic resonance DICOM images from Griffon Bruxellois dogs with and without Chiari-like malformation and syringomyelia and identified several significant variables. We found that in the Griffon Bruxellois dog, Chiari-like malformation is characterized by an apparent shortening of the entire cranial base and possibly by increased proximity of the atlas to the occiput. As a compensatory change, there appears to be an increased height of the rostral cranial cavity with lengthening of the dorsal cranial vault and considerable reorganization of the brain parenchyma including ventral deviation of the olfactory bulbs and rostral invagination of the cerebellum under the occipital lobes.

  4. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

    Science.gov (United States)

    Green, A J; Sandford, R N; Davison, B C

    1996-07-01

    We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the same anal, clitoral, and foot anomalies, a solitary pelvic kidney, and no fistula. This family is likely to represent autosomal dominant inheritance of a new combination of malformations, which may overlap with the Townes-Brocks syndrome, but does not fall into a current diagnostic category. PMID:8818947

  5. Site-specific induction of lymphatic malformations in a rat model for image-guided therapy

    International Nuclear Information System (INIS)

    Lymphatic malformation is a common benign mass in children and adults and is representative of a derangement in lymphangiogenesis. These lesions have high recurrence rates and significant morbidity associated with surgery. Several sclerotherapy regimens have been developed clinically to treat lymphatic malformations; however, an animal model has not been developed that is adequate to test the efficacy of image-guided therapeutic interventions. To develop an animal model suitable for evaluation of percutaneous treatments of lymphatic malformations. Male Harlan Sprague-Dawley rats (n = 9) received two US-guided injections of Incomplete Freund's Adjuvant (IFA) over a 2-week period. All nine rats were injected twice into the peritoneum (IP); a subgroup (n = 3) received additional injections into the neck. Three animals that received IP injections of saline were used as controls. The injection sites were monitored for the development of lesions by high-resolution ultrasonography at 2-week intervals for 100 days. High-resolution (4.7 Tesla) magnetic resonance imaging was then performed on two animals noted to have developed masses. The rats were sacrificed and histologic examination of the identified lesions was performed, including immunohistochemical staining for vascular (CD31) and lymphatic (Flt-4 and Prox-1) endothelium. All animals injected with IFA developed cystic lesions. The three animals injected at dual sites were noted to have both microcystic and macrocystic malformations in the neck and microcystic plaque-like lesions in the peritoneum. The macrocystic malformations (≥5 mm) in the neck were detected by ultrasonography and grossly later during necropsy. Histopathologic analysis revealed the cystic spaces to be lined by lymphatic endothelium supported by a connective tissue stroma. Control animals did not exhibit detectable lesions with either ultrasonography or necropsy. This model represents a promising tool for translational development of image

  6. Surgical strategy for cerebral arteriovenous malformation with acute hemorrhage

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    BACKGROUND: Presently, there have been craniocerebral operation, interventional embolization,stereotactic radiotherapy and other methods in treating cerebral arteriovenous malformation (AVM).However, the standard of different therapeutic regimens of cerebral AVM at the acute stage of hemorrhage has not been completely identified.OBJECTIVE: To observe the clinical characteristics and therapeutic effects of AVM at the acute stage of hemorrhage in patients, and to analyze corresponding therapeutic strategies.DESIGN: Non-randomized clinical observation.SETTING: Department of Neurosurgery, Foshan First People's Hospital, Sun Yat-sen University.PARTICIPANTS: Forty-six patients with cerebral AVM complicated by hemorrhage admitted to Department of Neurosurgery, Foshan First People's Hospital between January 1999 and December 2006,were involved in this study. All the patients were confirmed as cerebral AVM complicated by hemorrhage by brain angiography or/and postoperational pathology. The involved patients, 32 males and 14 females,averaged 25 years old, ranging from 6 to 62 years. Informed consents of therapeutic items were obtained from the relatives of all the patients.METHODS: ①On admission, skull CT and brain angiography were conducted in the involved subjects. ②The therapeutic method was confirmed according to the consciousness, hematoma region, hematoma volume,imageological results following comprehensive analysis: DSA examination was permitted to identify the size and position of abnormal vessel mass, and the distribution of feeding artery and draining vein. Craniocerebral operation was carried out as early as possible in patients with severe or progressive conscious disturbance, in which most of hematoma with obvious occupied effect or cerebral hernia was located in lobe of brain. The primary thing was to clean intracerebral hematoma for in time decompression. According to different situations, corresponding therapeutic measures were used for resecting abnormal

  7. TYPE I CONGENITAL CYSTIC ADENOID MALFORMATION CAUSING RIGHT MEDIASTINAL SHIFT IN A TWO YEARS OLD CHILD

    Directory of Open Access Journals (Sweden)

    Mayuri A

    2014-07-01

    Full Text Available Congenital cystic adenomatoid malformations (CCAM of lung are rare, congenital, cystic, developmental hamartomatous malformation of lung, arising from excessive disorganized proliferation of tubular bronchial structures. Very few cases have been reported in literature. Although it is a disorder of infancy, majority of cases are being diagnosed within first two years of life. We describe CCAM in two years old girl who presented with recurrent lower respiratory tract infections, since infancy and had type I CCAM of upper and middle lobe causing mediastinal shift to right

  8. Investigation of Brain Arterial Circle Malformations Using Electrical Modelling and Simulation

    Directory of Open Access Journals (Sweden)

    Klara Capova

    2006-01-01

    Full Text Available The paper deals with the cerebral arterial system investigation by means of electrical modelling and simulations. The main attention is paid to the brain arterial circle malformations (stenoses and aneurysms and their determination and evaluation by computer-aided methods as tools of a non-invasive diagnostics. The compensation possibilities of brain arterial circle in case of presence of concrete arterial malformations are modelled and simulated. The simulation results of brain arteries blood pressures and volume flow velocities time dependences are presented and discussed under various health conditions.

  9. Management of unresolved hemangiomas and venous malformations by N-butyl cyanoacrylate

    Directory of Open Access Journals (Sweden)

    Roy Ashim

    2007-01-01

    Full Text Available Management of unresolved hemangiomas and venous malformations is a real challenging problem because of their grotesque nature and aesthetic considerations. In our study we have used percutaneous injection of N-butyl cyanoacrylate (NBCA in such lesions to make these lesions amenable to easy excision. When the NBCA comes in contact with tissue fluid, it causes intercompartmental tissue adhesion, thus there is cessation of blood flow into the vascular malformation tissue. After few injections the whole mass forms a solid polymer, which is then excised. During excision there is remarkably minimum bleeding. In small lesions, per-operative injection just prior to surgery was also done.

  10. Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.

    Science.gov (United States)

    Whitaker, S; Leech, S; Taylor, A; Splitt, M; Natarajan, S; Rajan, N

    2016-03-01

    Multifocal capillary malformation (CM) is the cardinal feature of patients with RASA1 mutations. These CMs are 'red flags', signalling the possible association with an arteriovenous malformation (AVM) or an arteriovenous fistula (AVF). We report an 8-year-old boy who presented with > 20 CMs, who was found to have a novel mutation in the RASA1 gene. Radiological screening of children with RASA1 mutations is not standardized, and we elected to carry out baseline magnetic resonance imaging of the brain and spine in our case, which gave normal results. We discuss the recent literature and our approach in the management of such a case. PMID:26132338

  11. Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

    Directory of Open Access Journals (Sweden)

    Ghachem Maher

    2007-01-01

    Full Text Available Abstract We report a male child with Oromandibular-limb hypogenesis (OMLH, the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT scanning of this area identified: a congenital hypoplasia of the atlas; b the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.

  12. MR Angiographic-Guided Percutaneous Sclerotherapy for Venous Vascular Malformations: A Radiation Dose-Reduction Strategy.

    Science.gov (United States)

    Imbesi, S G; Green, D A; Cho, A; Pakbaz, R S

    2016-02-01

    We present a new technique using MRA instead of the usual DSA to provide guidance in the treatment of venous vascular malformations. When one performs this embolization procedure, appropriate needle positioning within the malformation must be confirmed before injection of the sclerosing agent to prevent untoward complications. Time-resolved imaging of contrast kinetics-MRA can accurately depict the angioarchitecture of the lesion, which substantially reduces the total radiation dose in these patients who are commonly in the pediatric age group and usually require numerous treatment episodes. PMID:26338922

  13. Multimodality imaging and interventional management of a complex congenital vascular malformation

    Directory of Open Access Journals (Sweden)

    Aadil Ahmed

    2010-06-01

    Full Text Available Hepatic vascular lesions are not an uncommon finding in children, and represent the most common benign liver tumours to present in infancy. We present a case of a complex vascular malformation with an intrahepatic component suggestive of a venous/arteriovenous malformation as well as a large extrahepatic lesion. The extrahepatic mass was present in both sub- and supra-diaphragmatic locations ,with features of a congenital haemangioma. In view of the clinical presentation and different imaging appearances, this case was felt to be interesting in its radiological workup, management and eventual unusual pathology.

  14. Risk of congenital malformations among children of construction painters in Denmark

    DEFF Research Database (Denmark)

    Tougaard, Ninna Hahn; Bonde, Jens Peter; Hougaard, Karin Sørig;

    2015-01-01

    ). Sensitivity analyses restricted to severe malformations, children of maternal painters with ≥2 years of pre-pregnancy exposure, and firstborn children, and analyses with maternal healthcare assistants and kitchen workers as reference supported the main results. Also, no associations were found when including...... diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female...

  15. Interventional radiography in management of high-flow arteriovenous malformation of maxilla: report of a case

    Energy Technology Data Exchange (ETDEWEB)

    Khambete, Neha; Risbud, Mukund [Vasantdada Patil Dental College and Hospital, Kavalapur (India); Mehta, Nikit [College of Medical Sciences, Dharwad (India)

    2011-09-15

    Arteriovenous malformations are extremely rare conditions in that can result from abnormalities in the structure of blood vessels, which may be potentially fatal. A 30-year-old female patient visited our hospital with a complaint of swelling on the right maxillary posterior gingiva along with the large port-wine stain on right side of face. On clinical examination, the swelling was compressible and pulsatile. Radiographic examination revealed a lytic lesion of maxilla. Diagnostic angiography revealed a high-flow arteriovenous malformation of maxilla which was treated by selective transarterial embolization of maxillary artery using polyvinyl alcohol particles.

  16. Venous vascular malformation of the floor of mouth masquerading as a dermoid tumor.

    Science.gov (United States)

    Dmytriw, Adam A; Song, Jin Soo A; Gullane, Patrick; terBrugge, Karel G; Yu, Eugene

    2016-01-01

    Venous vascular malformations (VVMs) are described as abnormal post-capillary lesions which exhibit low flow. These are typically malleable and may grow with endocrine fluctuations. A VVM that mimics the classic appearance of dermoid tumor on imaging has never been reported. We encountered a 43-year-old woman with intermittent dysphagia relating to a firm submandibular mass. Physical exam and cross-sectional imaging revealed features consistent with variant dermoid cyst. However, catheter angiography eventually demonstrated a VVM which possessed vessels of variable size and partial thrombosis. We report the case and propose that catheter angiography remains important in cases where vascular malformation is considered. PMID:26851131

  17. Congenital malformations and assisted reproductive technique: Where is assisted reproductive technique taking us?

    Directory of Open Access Journals (Sweden)

    Sunita Tandulwadkar

    2012-01-01

    Full Text Available Development of ART has great benefit for millions of couples all over the world and with falling fertility rate there are a growing numbers of children born with the help of ART, it is important to investigate potential risks to these children. IVF-ICSI pregnancies are associated with higher risk for multiple gestation, preterm labor and low birth weight. It is an area of great conflict and interest that whether ART is associated with increased congenital malformations or not. So, this article reviews the data and evidences linking ART to congenital malformations.

  18. Comparison between fast contrast-enhanced MR angiography and DSA in diagnosing spinal cord vascular malformations

    International Nuclear Information System (INIS)

    Objective: To evaluate the diagnostic and clinical value of fast contrast-enhanced MR angiography (CE-MRA) with elliptic centric phase-encoding in spinal cord vascular malformations. Methods Fast three-dimensional contrast-enhanced MR angiography with elliptic centric phase-encoding and superconducting 1.5T system was applied prospectively in twenty-five consecutive patients with clinically suspected of spinal cord vascular malformations. All cases were performed with selective spinal digital subtraction angiography, including 18 cases treated by surgery and 2 of them with embolization before surgery, MR angiography follow up were undertaken in ten patients after surgery. Comparing fast contrast-enhanced MR angiography with DSA in diagnosing spinal cord vascular malformations included the origin of feeding artery, the feeding artery, the fistula or the nidus, the draining vein, and the vessel image quality based on the gold standard of selective spinal digital subtraction angiography. Results: Surgically proven diseases included spinal arteriovenous malformations(3 cases), spinal cord perimedullary arteriovenous fistulas (5 cases), spinal dural arteriovenous fistulas (8 cases), paravertebral arteriovenous fistulas (1 case), and spontaneous spinal epidural hematomas (2 eases). Comparing with DSA, the accuracy of MR angiography in diagnosing spinal cord vascular malformations; and detecting the origin of the feeding artery, the feeding artery, the shunt or the nidus and the draining vein were 93.8%, 92%, 96.2%, 100% and 100%, respectively. Overall the degree vascular enhencement were judged to be similar(P>0.05), but the vessel continuity of MRA was inferior to DSA (P<0.05). However, 9 cases of MRA showed no abnormal vascular malformation coinciding with those of surgery. Posttreatment MR angiography did not depict any abnormal vessels again. Conclusions: Fast three-dimensional contrast-enhanced MR angiography with elliptic centric phase-encoding may provide

  19. [Syndactylia associated with multiple malformation syndromes. Observation of a new symptomatologic complex in 3 brothers].

    Science.gov (United States)

    Garau, A; Nurchi, A M; Melis, P; Frau, G; Costa, G

    1988-01-01

    Hand and feet malformations are often part of complex malformation associations. The present paper reports on a family whose three sibs (two males and one female) are affected with symmetric soft tissue syndactyly involving both fingers and toes, fifth finger clinodactyly, a pattern of dysmorphism including down slanting palpebral fissures, long flat nasal saddle, out turned nostril openings ("Greek warrior helmet"-like profile), dysplastic teeth, and, in addition, severe growth retardation, microcephaly, severe mental deficiency with immaturity of cerebral activity of EEG, hypergonadotropic hypogonadism and some skeletal anomalies. All cases show large secondary constriction in one of the chromosome 1 pair (1qh+). PMID:2845373

  20. Arteriovenous malformation of the mandible presented as massive upper gastrointestinal bleeding: report of one case.

    Science.gov (United States)

    Su, Kuan-Wen; Peng, Yen-Shih; Wu, Yu-Nian; Tsai, Ya-Huei; Lee, Hung-Chang

    2006-01-01

    Arteriovenous malformation is an uncommon cause of upper gastrointestinal bleeding in children. It should be taken into consideration when a child has upper gastrointestinal bleeding because without proper management, it might be fatal. We report a 10-year-old boy whose initial presentation was massive hematemesis and impending shock. After angiography, arteriovenous malformation (AVM) of the mandible was found and treated with embolization. This 10-year-old boy also had chicken pox during admission. Case reports regarding AVM of dental arches in literature are reviewed and the proposed managements are summarized. Embolization combined with surgical excision might be the optimal way to manage AVM of dental arches. PMID:17180789

  1. Foot Drop after Ethanol Embolization of Calf Vascular Malformation: A Lesson on Nerve Injury

    Energy Technology Data Exchange (ETDEWEB)

    Tay, Vincent Khwee-Soon, E-mail: vincentkstay@gmail.com [Singapore General Hospital, Department of Plastic, Reconstructive, and Aesthetic Surgery (Singapore); Mohan, P. Chandra, E-mail: chandra.mohan@sgh.com.sg [Singapore General Hospital, Department of Diagnostic Radiology (Singapore); Liew, Wendy Kein Meng, E-mail: wendy.liew.km@kkh.com.sg [KK Women' s and Children' s Hospital, Department of Paediatrics (Neurology Service) (Singapore); Mahadev, Arjandas, E-mail: arjandas.mahadev@kkh.com.sg [KK Women' s and Children' s Hospital, Department of Orthopaedic Surgery (Singapore); Tay, Kiang Hiong, E-mail: tay.kiang.hiong@sgh.com.sg [Singapore General Hospital, Department of Diagnostic Radiology (Singapore)

    2013-08-01

    Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this complication is not well described in literature. This case describes a 10-year-old boy with a slow flow vascular malformation in the right calf who underwent transarterial ethanol embolization following prior unsuccessful direct percutaneous sclerotherapy. The development of a dense foot drop that subsequently recovered is described, and the management of this uncommon but distressful complication is discussed.

  2. Von Meyenburg complex and complete ductal plate malformation along with Klatskin tumour: a rare association.

    Science.gov (United States)

    Gupta, Ashish; Pattnaik, Bramhadatta; Das, Ashim; Kaman, Lileswar

    2016-01-01

    Von Meyenburg complexes (VMCs), or bile duct microhamartomas, are among the constellation of defects of ductal plate malformation. These present as multiple small intrahepatic cysts and are diagnosed incidentally. Association of intrahepatic VMCs with a bile duct cancer has rarely been reported. We describe a case of a 53-year-old man presenting with obstructive jaundice. Biochemistry and radiology gave a provisional diagnosis of a resectable Klatskin tumour. The patient underwent right hepatectomy with common bile duct and caudate lobe excision. The histopathological examination demonstrated intrahepatic VMCs with complete ductal malformation and malignancy at the hilum. PMID:27090552

  3. Foot Drop after Ethanol Embolization of Calf Vascular Malformation: A Lesson on Nerve Injury

    International Nuclear Information System (INIS)

    Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this complication is not well described in literature. This case describes a 10-year-old boy with a slow flow vascular malformation in the right calf who underwent transarterial ethanol embolization following prior unsuccessful direct percutaneous sclerotherapy. The development of a dense foot drop that subsequently recovered is described, and the management of this uncommon but distressful complication is discussed

  4. [Minor congenital malformations: prognostic indicator of ill-being of an infant born by alcoholic mother].

    Science.gov (United States)

    Khatskel', S B; Popov, I V

    2005-01-01

    This work presents the results of a comparative analysis of risk factors and phenotypical characteristics of 228 children with fetal alcohol syndrome and of 347 children with hypoxicischemic encepalopathy. The study of a phenotype detected that an average number of minor congenital malformations in children with fetal alcohol syndrome was equal to 12.2 while in comparison group it was equal to 7.3. High prevalence of stigmata was associated with an increased frequency congenital malformations of internal organs and mental disorders in children by the age of 4. PMID:16381318

  5. Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE Syndrome, Compatible with Cystic Adenomatoid Malformation

    Directory of Open Access Journals (Sweden)

    Soheila Aleyacin

    2008-06-01

    There are few reports of cystic adenomatoid malformation in children. To our best known, this is the first report of cystic adenomatoid malformation in a child with hyper IgE syndrome. Early diagnosis and surgical therapy are helpful in prevention of repeated infections in these patients.

  6. A new gestational diabetes mellitus model: hyperglycemia-induced eye malformation via inhibition of Pax6 in the chick embryo

    Science.gov (United States)

    Zhang, Shi-Jie; Li, Yi-Fang; Tan, Rui-Rong; Tsoi, Bun; Huang, Wen-Shan; Huang, Yi-Hua; Tang, Xiao-Long; Hu, Dan; Yao, Nan; Yang, Xuesong; Kurihara, Hiroshi; Wang, Qi; He, Rong-Rong

    2016-01-01

    ABSTRACT Gestational diabetes mellitus (GDM) is one of the leading causes of fetal malformations. However, few models have been developed to study the underlying mechanisms of GDM-induced fetal eye malformation. In this study, a high concentration of glucose (0.2 mmol per egg) was injected into the air sac of chick embryos on embryo development day (EDD) 1 to develop a hyperglycemia model. Results showed that 47.3% of embryonic eye malformation happened on EDD 5. In this model, the key genes regulating eye development, Pax6, Six3 and Otx2, were downregulated by hyperglycemia. Among these genes, the expression of Pax6 was the most vulnerable to hyperglycemia, being suppressed by 70%. A reduction in Pax6 gene expression induced eye malformation in chick embryos. However, increased expression of Pax6 in chick embryos could rescue hyperglycemia-induced eye malformation. Hyperglycemia stimulated O-linked N-acetylglucosaminylation, which caused oxidative stress in chick embryos. Pax6 was found to be vulnerable to free radicals, but the antioxidant edaravone could restore Pax6 expression and reverse eye malformation. These results illustrated a successful establishment of a new chick embryo model to study the molecular mechanism of hyperglycemia-induced eye malformation. The suppression of the Pax6 gene is probably mediated by oxidative stress and could be a crucial target for the therapy of GDM-induced embryonic eye malformation. PMID:26744353

  7. Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary haemorrhagic telangiectasia (HHT)

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Oxhøj, H; Andersen, P E;

    2000-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease. HHT is characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs) and neurological symptoms.......Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease. HHT is characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs) and neurological symptoms....

  8. [Elective cerebral arteriovenous malformation treatment with onyx after coil embolization of ruptured, flow-realeted aneurysm of the posterior circulation].

    Science.gov (United States)

    Poncyljusz, Wojciech; Falkowski, Aleksander; Rać, Monika; Sagan, Leszek; Kojder, Ireneusz

    2012-01-01

    Intracranial arteriovenous posterior circulation malformation was planned to embolize by onyx injection after acute coil embolization of ruptured flow-realeted aneurysm of posterior cerebral artery. Control angiography revealed completely embolized malformation with normal vessel patency at the end of procedure. There were no adverse events related to this procedure and no neurologic deficit at the discharge. PMID:23276020

  9. MORPHOMETRIC ANALYSIS OF FORAMEN MAGNUM

    Directory of Open Access Journals (Sweden)

    Muralidhar P Shepur

    2014-03-01

    Full Text Available Background: Diameters of foramen magnum are important because vital structures passing through it and for sex determination of skulls. The dimensions of the foramen magnum are clinically important because vital structures passing through it may endure compression such as in cases of foramen magnum herniation, foramen magnum meningiomas and foramen magnum achondroplasia. The knowledge of foramen magnum diameters is needed to determine some malformations such as Arnold Chiari syndrome, which shows expansion of transverse diameter. Objectives: To study longitudinal diameter, transverse diameter and area of foramen magnum in relation to sex. Methods: 150 dry skulls and 30 CT scan images of living subjects were studied. Diameters of foramen magnum were measured by vernier calipers and its area was calculated by formula. Diameters and area of foramen were measured automatically. Results: The mean longitudinal diameter of foramen magnum in male was 33.4mm and female was 33.1mm and by CT Imaging method in male was 38.5mm and female was 35.2mm. The mean transverse diameter of foramen magnum in male was 28.5mm and female was 27.3mm and by CT Imaging method in male was 29.1mm and female was 27.6mm. Conclusion: longitudinal and transverse diameters and area of foramen magnum of male skulls were greater than females.

  10. Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients.

    Science.gov (United States)

    Castori, Marco; Camerota, Filippo; Celletti, Claudia; Danese, Chiara; Santilli, Valter; Saraceni, Vincenzo Maria; Grammatico, Paola

    2010-03-01

    Hypermobility type Ehlers-Danlos syndrome (HT-EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers-Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT-EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear-nose-throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT-EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined. Three phases (namely, hypermobility, pain, and stiffness) are delineated based on distinguishing manifestations. A constellation of additional, apparently uncommon abnormalities is also identified, including dolichocolon, dysphonia, and Arnold-Chiari type I malformation. Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT-EDS, and a more effective approach to the evaluation and management of affected individuals. PMID:20140961

  11. Fast multiphase MR imaging of aqueductal CSF flow: 2. Study in patients with hydrocephalus.

    Science.gov (United States)

    Mascalchi, M; Ciraolo, L; Bucciolini, M; Inzitari, D; Arnetoli, G; Dal Pozzo, G

    1990-05-01

    The signal intensity in the region corresponding to the cerebral aqueduct was evaluated in three patients with noncommunicating tension hydrocephalus (caused by aqueductal obstruction in two and type I Arnold-Chiari malformation in the other), seven patients with suspected normal-pressure hydrocephalus (three of whom subsequently underwent successful shunting), and 10 patients with ex vacuo (atrophic) hydrocephalus. A gradient-echo MR sequence, called fast multiphase imaging, was used. Serial images corresponding to different phases of the cardiac cycle were acquired. No flow-related enhancement was observed over the entire cardiac cycle in the patients with noncommunicating hydrocephalus. Patients with normal-pressure hydrocephalus showed a higher aqueductal CSF signal intensity, consistent with increased systolic flow rates, than patients with ex vacuo hydrocephalus. When comparing the above two groups of patients with a control group of healthy volunteers, significantly higher and lower values of the (mean) maximum aqueductal signal intensity were found in the normal-pressure hydrocephalus patients and the ex vacuo hydrocephalus patients, respectively. Fast multiphase MR evaluation of aqueductal CSF flow may help to differentiate patients with different types of hydrocephalus. PMID:2112327

  12. Computed tomographic metrizamide myelography in spinal disease

    Energy Technology Data Exchange (ETDEWEB)

    Isu, T.; Ito, T.; Iwasaki, Y.; Tsuru, M. (Hokkaido Univ., Sapporo (Japan). School of Medicine); Kitaoka, K.

    1981-03-01

    Methods: Either EMT Head Scanner, CT 1010 (slice thickness 10 mm) or EMI Body Scanner, CT 5005 (slice thickness 13 mm) was used. The concentration of metrizamide was 170 - 250 mgI/ml and the amount was 7 - 10 ml. Either lumbar puncture or lateral C sub(1 - 2) puncture was made. Materials: 26 cases were included in this study. 1) disc disease: 11 cases, 2) spinal cord tumor: 6 cases, 3) Arnold-Chiari malformation: 3 cases, 4) atlantoaxial dislocation: 3 cases, 5) ossification of the posterior longitudinal ligament (associated with ossification of the ligamentum flavum): 2 cases (1 case), 6) spinal foreign body (acupuncture needle): 1 case. Results: 1) CT metrizamide myelography visualizes the subarachnoid space and makes it possible to know the lesion in the spinal canal in relation to the spinal cord in transverse plane. 2) It is difficult to determine the exact level of the lesion in axial plane. 3) The present technique does not allow to visualize the root sleeves. 4) It is difficult to delineate a compression of the subarachnoid space by small localized lesions (esp., disc diseases) due to overlapping the patent adjacent subarachnoid space within a slice 10 mm to 13 mm thick.

  13. Cerebrospinal fluid dynamics in Chiari malformation associated with syringomyelia

    Institute of Scientific and Technical Information of China (English)

    LIU Bin; WANG Zhen-yu; XIE Jing-cheng; HAN Hong-bin; PEI Xin-long

    2007-01-01

    Background About 50%-70% of patients with Chiari malformation I (CMI) presented with syringomyelia (SM), which is supposed to be related to abnormal cerebrospinal fluid (CSF) flow around the foramen magnum. The aim of this study was to investigate the cerebrospinal fluid dynamics at levels of the aqueduct and upper cervical spine in patients with CMI associated with SM, and to discuss the possible mechanism of formation of SM.Methods From January to April 2004, we examined 10 adult patients with symptomatic CMI associated with SM and 10 healthy volunteers by phase-contrast MRI. CSF flow patterns were evaluated at seven regions of interest (ROI): the aqueduct and ventral and dorsal subarachnoid spaces of the spine at levels of the cerebellar tonsil, C2-3, and C5-6. The CSF flow waveforms were analyzed by measuring CSF circulation time, durations and maximum velocities of cranial- and caudal-directed flows, and the ratio between the two maximum velocities. Data were analyzed by ttest using SPSS 11.5.Results We found no definite communication between the fourth ventricle and syringomyelia by MRI in the 10 patients.In both the groups, we observed cranial-directed flow of CSF in the early cardiac systolic phase, which changed the direction from cranial to caudal from the middle systolic phase to the early diastolic phase, and then turned back in cranial direction in the late diastolic phase. The CSF flow disappeared at the dorsal ROI at the level of C2-3 in 3 patients and 1 volunteer, and at the level of C5-6 in 6 patients and 3 volunteers. The durations of CSF circulation at all the ROIs were significantly shorter in the patients than those in the healthy volunteers (P=0.014 at the midbrain aqueduct, P=0.019 at the inferior margin of the cerebellar tonsil, P=0.014 at the level of C2-3, and P=0.022 at the level of C5-6). No significant difference existed between the two groups in the initial point and duration of the caudal-directed CSF flow during a cardiac cycle at

  14. Split-hand/feet malformation in three tamilian families and review of the reports from India

    Directory of Open Access Journals (Sweden)

    S. Deepak Amalnath

    2014-01-01

    Full Text Available Split-hand/foot malformation (SHFM is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD inheritance and the other two with autosomal recessive (AR pattern. We also briefly review the published reports from India.

  15. Split hand Split foot, iris/choroid coloboma, hypospadias and subfertility : a new developmental malformation syndrome?

    NARCIS (Netherlands)

    Giltay, JC; Wittebol-Post, D; van Bokhoven, H; Kastrop, PMM; Lock, MTWT

    2002-01-01

    This paper presents a patient with the following malformations: split hand and split foot on the left side, a hypoplastic fifth ray of the right hand and a hypoplastic first ray of the right foot with a small cleft between the first and second ray; eye abnormalities which consist of a complete iris

  16. Endoscopic approaches to brainstem cavernous malformations: Case series and review of the literature

    Directory of Open Access Journals (Sweden)

    Nikhil R Nayak

    2015-01-01

    Conclusion: The endoscope is a promising adjunct to the neurosurgeon′s ability to approach difficult to access brainstem cavernous malformations. It allows the surgeon to achieve well-illuminated, panoramic views, and by combining approaches, can provide minimally invasive access to most regions of the brainstem.

  17. Cirsoid renal arteriovenous malformation treated by endovascular embolization with n-butyl 2-cyanoacrylate

    International Nuclear Information System (INIS)

    The authors report a rare case of renal arteriovenous malformation (rAVM) which was diagnosed by arteriography years after onset of intermittent haematuria. The rAVM of the cirsoid type was superselectively catheterized and embolized in toto with n-butyl 2-cyanoacrylate. Diagnostic imaging modalities and the technique of embolization are discussed. (orig.)

  18. Arteriovenous Malformation in Temporal Lobe Presenting as Contralateral Ocular Symptoms Mimicking Carotid-Cavernous Fistula

    Directory of Open Access Journals (Sweden)

    Fadzillah Mohd-Tahir

    2013-01-01

    Full Text Available Aim. To report a rare case of arteriovenous malformation in temporal lobe presenting as contralateral orbital symptoms mimicking carotid-cavernous fistula. Method. Interventional case report. Results. A 31-year-old Malay gentleman presented with 2-month history of painful progressive exophthalmos of his left eye associated with recurrent headache, diplopia, and reduced vision. Ocular examination revealed congestive nonpulsating 7 mm exophthalmos of the left eye with no restriction of movements in all direction. There was diplopia in left lateral gaze. Left IOP was elevated at 29 mmHg. Left eye retinal vessels were slightly dilated and tortuous. CT scan was performed and showed right temporal arteriovenous malformation with a nidus of 3.8 cm × 2.5 cm with right middle cerebral artery as feeding artery. There was dilated left superior ophthalmic vein of 0.9 mm in diameter with enlarged left cavernous sinus. MRA and carotid angiogram confirmed right temporal arteriovenous malformation with no carotid-cavernous fistula. Most of the intracranial drainage was via left cavernous sinus. His signs and symptoms dramatically improved following successful embolisation, completely resolved after one year. Conclusion. Intracranial arteriovenous malformation is rarely presented with primary ocular presentation. Early intervention would salvage the eyes and prevent patients from more disaster morbidity or fatality commonly due to intracranial haemorrhage.

  19. Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations

    Directory of Open Access Journals (Sweden)

    Elena eCid

    2014-04-01

    Full Text Available Developmental cortical malformations comprise a large spectrum of histopathological brain abnormalities and syndromes. Their genetic, developmental and clinical complexity suggests they should be better understood in terms of the complementary action of independently timed perturbations (i.e. the multiple-hit hypothesis. However, understanding the underlying biological processes remains puzzling. Here we induced developmental cortical malformations in offspring, after intraventricular injection of methylazoxymethanol (MAM in utero in mice. We combined extensive histological and electrophysiological studies to characterize the model. We found that MAM injections at E14 and E15 induced a range of cortical and hippocampal malformations resembling histological alterations of specific genetic mutations and transplacental mitotoxic agent injections. However, in contrast to most of these models, intraventricularly MAM-injected mice remained asymptomatic and showed no clear epilepsy-related phenotype as tested in long-term chronic recordings and with pharmacological manipulations. Instead, they exhibited a non-specific reduction of hippocampal-related brain oscillations (mostly in CA1; including theta, gamma and HFOs; and enhanced thalamocortical spindle activity during non-REM sleep. These data suggest that developmental cortical malformations do not necessarily correlate with epileptiform activity. We propose that the intraventricular in utero MAM approach exhibiting a range of rhythmopathies is a suitable model for multiple-hit studies of associated neurological disorders.

  20. RGB imaging system for monitoring of skin vascular malformation's laser therapy

    Science.gov (United States)

    Jakovels, Dainis; Kuzmina, Ilona; Berzina, Anna; Spigulis, Janis

    2012-06-01

    A prototype RGB imaging system for mapping of skin chromophores consists of a commercial RGB CMOS sensor, RGB LEDs ring-light illuminator and orthogonally orientated polarizers for reducing specular reflectance. The system was used for monitoring of vascular malformations (hemagiomas and telangiectasias) therapy.

  1. Long-term follow-up after embolization of pulmonary arteriovenous malformations with detachable silicone balloons

    DEFF Research Database (Denmark)

    Andersen, Poul Erik; Kjeldsen, Anette D

    2007-01-01

    ) with pulmonary angiography. Fifty-four percent of the balloons were deflated at latest radiographic chest film follow-up, but at pulmonary angiographic follow-up all embolized malformations were without flow irrespective of whether or not the balloons were visible. Detachable silicone balloons are not...

  2. Arteriovenous malformation associated with cyst in a child: Case report and review of literature

    OpenAIRE

    Paramveer Sabharwal; Tanmoy Maiti; Subhas Konar; Paritosh Pandey

    2013-01-01

    Cysts associated with arteriovenous malformations (AVMs) are either secondary to hemorrhage or after radiosurgery. Untreated and unruptured AVMs with large cysts are rare. We here describe a child with medial parietal AVM associated with cyst, without any history of hemorrhage or radiosurgery. Surgical excision led to cure for the patient.

  3. Ruptured Aneurysm of Intercostal Arteriovenous Malformation Associated With Neurofibromatosis Type 1: A Case Report

    International Nuclear Information System (INIS)

    Intercostal arteriovenous malformations (AVM) are rare, with most being secondary to trauma or iatrogenic therapeutic procedures. Only one case of presumably congenital AVM has been reported. Here we report the first case of a ruptured aneurysm of intercostal AVM associated with neurofibromatosis type 1 in a 32-year-old woman who experienced hypovolemic shock caused by massive hemothorax.

  4. Acquired uterine vascular malformations: radiological and clinical outcome after transcatheter embolotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Maleux, Geert; Heye, Sam; Wilms, Guy [University Hospitals Gasthuisberg, Department of Radiology, Leuven (Belgium); Timmerman, Dirk [University Hospitals Gasthuisberg, Department of Obstetrics and Gynecology, Leuven (Belgium)

    2006-02-01

    The purpose of this retrospective study is to assess the radiological and clinical outcome of transcatheter embolization of acquired uterine vascular malformations in patients presenting with secondary postpartum or postabortion vaginal hemorrhage. In a cohort of 17 patients (mean age: 29.7 years; standard deviation: 4.23; range: 25-38 years) 18 embolization procedures were performed. Angiography demonstrated a uterine parenchymal hyperemia with normal drainage into the large pelvic veins (''low-flow uterine vascular malformation'') in 83% (n=15) or a direct arteriovenous fistula (''high-flow uterine vascular malformation'') in 17% (n=3). Clinically, in all patients the bleeding stopped after embolization but in 1 patient early recurrence of hemorrhage occurred and was treated by hysterectomy. Pathological analysis revealed a choriocarcinoma. During follow-up (mean time period: 18.8 months; range: 1-36 months) 6 patients became pregnant and delivered a healthy child. Transcatheter embolization of the uterine arteries, using microparticles, is safe and highly effective in the treatment of a bleeding acquired uterine vascular malformation. In case of clinical failure, an underlying neoplastic disease should be considered. Future pregnancy is still possible after embolization. (orig.)

  5. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

    Directory of Open Access Journals (Sweden)

    Carlos Garrido-Allepuz

    2011-05-01

    Full Text Available Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA, and in mice that develop with reduced bone morphogenetic protein (Bmp signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

  6. Chronic portomesenteic venous thrombosis complicated by a high flow arteriovenous malformation presenting with gastrointestinal bleeding.

    Science.gov (United States)

    Plotnik, Adam N; Hebroni, Frank; McWilliams, Justin

    2016-02-01

    Portomesenteric venous thrombosis is a rare but potentially life-threatening condition. The presenting symptoms of chronic portomesenteric venous thrombosis are often non-specific but may present with variceal bleeding. We present the first reported case of chronic portomesenteric venous thrombosis causing a high flow arteriovenous malformation that resulted in extensive gastrointestinal bleeding. PMID:25871943

  7. Congenital Tracheal Web Malformation in a Wild Brown Bear ( Ursus arctos ), Sweden, 2010.

    Science.gov (United States)

    Ågren, Erik O; Söderberg, Arne

    2016-04-28

    We describe a congenital tracheal web malformation in a wild female brown bear (Ursus arctos) yearling that was euthanized after being hit by a train in Norrbotten County, Sweden, December 2010. A 3-cm-long, abnormal, longitudinal mucosal fold divided the trachea into two halves, without obviously blocking the airflow. PMID:27054473

  8. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

    Science.gov (United States)

    Bourchany, A; Giurgea, I; Thevenon, J; Goldenberg, A; Morin, G; Bremond-Gignac, D; Paillot, C; Lafontaine, P O; Thouvenin, D; Massy, J; Duncombe, A; Thauvin-Robinet, C; Masurel-Paulet, A; Chehadeh, S El; Huet, F; Bron, A; Creuzot-Garcher, C; Lyonnet, S; Faivre, L

    2015-07-01

    Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. PMID:25899569

  9. Clinical and radiological long-term follow-up after embolization of pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Andersen, Poul Erik; Kjeldsen, Anette D

    2005-01-01

    The purpose was to evaluate the clinical and radiological long-term results of embolization of pulmonary arteriovenous malformations (PAVMs) and to assess the quality of life after treatment. A clinical follow-up was undertaken after 67 months (mean) in 35 consecutive patients with 106 PAVMs...

  10. Aplasia of major pectoral muscle combined with renal aplasia and cystic malformation of common iliac vein

    DEFF Research Database (Denmark)

    Qvist, N; Nielsen, K; Christensen, P V

    1987-01-01

    We report a case of an eighteen-year-old male with combined aplasia of the major pectoral muscle, renal aplasia, and malformation of the common iliac vein. The possibility of a common genesis is discussed on the basis of embryology....

  11. Advancement of ethylene vinyl alchohol copolymer in the treatment of cerebral arteriovenous malformation

    International Nuclear Information System (INIS)

    Ethylene vinyl alcohol copolymer can be developed into new kinds of liquid embolization material possessing a great number of advantages in comparison with the current embolization substances. The authors reviewed the advancement of ethylene vinyl alcohol copolymer in the treatment of cerebral arteriovenous malformation in recent years. (authors)

  12. A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2

    Directory of Open Access Journals (Sweden)

    Mariasofia Cotelli

    2014-01-01

    Full Text Available Glycogenosis II (GSDII is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid alpha-glucosidase and subsequent lysosomal accumulation of glycogen in skeletal, cardiac and smooth muscles. The late-onset form is characterized by wide variability of the phenotypical spectrum. Clinical findings may include muscle weakness, respiratory insufficiency, vascular abnormalities, low bone mineral density and higher risk of developing osteoporosis. Craniovertebral junction (CVJ malformations have never been described so far. We here report on a GSDII 43-year-old woman who harbored the mutations IVS1-13T>G and c.2237G>A in the acid alpha-glucosidase gene. She recurrently suffered from headache, neck pain and dizziness. Brain MRI and CT scan showed the presence of a very rare complex CVJ malformation composed of basilar invagination, basiocciput hypoplasia, partial C1 assimilation, C1 posterior arch aplasia and C1 lateral mass hypoplasia and offset. Although we cannot rule out their coincidental occurrence, the rarity of multiple CVJ malformations in the general population as well as the well-known GSDII multisystem involvement should suggest to study the CVJ in the diagnostic process of GSDII patients in order to assess the CVJ malformation frequency in GSDII population and verify a possible relationship between these two conditions.

  13. Clinical application and diagnostic value of non-invasive spinal angiography in spinal vascular malformations

    International Nuclear Information System (INIS)

    Objective: To explore the value of CT spinal angiography with 256 MSCT and fast dynamic contrast-enhanced 3D MR angiography (CE-MRA) at 3.0 T in the diagnosis of spinal vascular malformations by comparing with results of DSA and operation. Methods: Seventeen patients suspected of spinal vascular diseases by initial MR and clinical manifestations all underwent CT spinal angiography. Of them, 10 patients underwent MRA, 15 patients underwent DSA within 3-5 days,and 8 patients finally underwent surgical treatment. Results: CTA examination clearly showed the abnormal vascular lesions in 16 of 17 cases, including 7 cases with the diagnosis of spinal dural arteriovenous fistula, 7 cases of perimedullary arteriovenous fistula, and 2 cases of spinal arteriovenous malformations. The results were consistent with the diagnosis of DSA or surgery. One case was poorly diagnosed. The feeding vessels were correctly determined in 12 cases, and the level of fistulas were correctly displayed in 12 cases. The level of fistulas and feeding vessels were accurately showed in 7 of 10 cases with MRA, while the other 3 cases exhibited normal with DSA. Conclusions: Spinal angiography with 256 MSCT and CE-MRA at 3.0 T can clearly show the extent of spinal vascular malformations, feeding arteries and fistula location. They are safe, noninvasive, convenient and can shorten the time of DSA diagnosis and treatment. They play an important role in diagnosis and treatment of spinal vascular malformations and postoperative follow-up. (authors)

  14. Clarithromycin in early pregnancy and the risk of miscarriage and malformation

    DEFF Research Database (Denmark)

    Andersen, Jon Thor Trærup; Petersen, Morten; Jimenez-Solem, Espen;

    2013-01-01

    The antibiotic clarithromycin has been associated with fetal loss in animals and a study has found a doubling in the frequency of miscarriages among women using clarithromycin in pregnancy. The aim of the study was to investigate whether clarithromycin use in early pregnancy was associated with an...... increased risk for miscarriages and major malformations....

  15. Cyst formation after radiosurgery for brain arteriovenous malformation treated with cystoperitoneal shunt

    International Nuclear Information System (INIS)

    Gamma knife and CyberKnife radiosurgery are well established and less invasive treatments for arteriovenous malformation. Delayed cyst formation is a rare but well-known complication of radiosurgery for arteriovenous malformations. The optimal treatment of cysts forming after radiosurgery remains debatable. We present a case of cyst formation after radiosurgery for brain arteriovenous malformation that was treated with a cystoperitoneal shunt (C-P shunt). A 36-year-old woman presented with left hemiparesis and numbness. Computed tomography (CT) revealed intracranial hemorrhage in the right basal ganglia. Digital subtraction angiography revealed arteriovenous malformation in the brain. Intravascular embolization was performed three times and radiosurgery was performed twice, whereby complete obliteration of the nidus was achieved. Six and a half years later, routine follow-up magnetic resonance imaging revealed cyst formation, and the patient gradually developed left hemiparesis. First, we performed stereotactic cyst aspiration. This initially resulted in a reduction in the size of the cyst and disappearance of left hemiparesis, but within a short time, the cyst increased in size again and there was recurrence of hemiparesis. Therefore, an Ommaya reservoir was established; aspiration of the cyst through this reservoir brought about an initial reduction in cyst size and alleviation of symptoms; however, no further reduction in cyst size or improvement in symptoms could be achieved. Twenty months after the placement of the Ommaya reservoir, we performed a C-P shunt operation. After the operation, further reduction in the cyst size and complete symptomatic recovery were observed. (author)

  16. Endoscopic and Angiographic Diagnosis and Management of a Gastric Arteriovenous Malformation

    Directory of Open Access Journals (Sweden)

    Jeffrey B. McCrary

    2014-04-01

    Conclusions: We propose that these two minimally invasive technologies can be used to manage AVM in the gut: endoscopic therapy to control luminal bleeding and interventional radiology to define the full extent of the malformation and to decrease arterial pressure and flow to the point that hemostasis can occur, without creating symptomatic ischemia.

  17. Splenic arteriovenous malformation manifested by thrombocytopenia in hereditary hemorrhagic telangiectasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Hee Jin; Choi, Jong Cheol; Oh, Jong Yeong; Cho, Jin Han; Kang, Myong Jin; Lee, Jin Hwa; Yoon, Seong Kuk; Nam, Kyeong Jin [College of Medicine, Dong-A University, Busan (Korea, Republic of)

    2008-09-15

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by epistaxis, telangiectases and visceral arteriovenous malformations (AVMs). The involvement of the gastrointestinal tract, liver, lung and cerebrum for HHT has been described, whereas little is known about AVMs of the spleen. We report here the radiological findings of a case of a splenic AVM manifested by thrombocytopenia in HHT.

  18. Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)

    OpenAIRE

    Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

    2014-01-01

    Patient: Female, 6 Final Diagnosis: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: — Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Congenital defects Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or...

  19. Mixed form of congenital cystic adenomatoid malformation and extralobar bronchopulmonary sequestration : a case report

    International Nuclear Information System (INIS)

    Bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) are rare, but both should be included in the differential diagnosis of fetal lung mass. We experienced a mixed form of Stocker type-III CCAM and extralobar BPS, and present this case, together with a review of the related literature. (author)

  20. Unusual Cause of Massive Upper Gastrointestinal Bleeding: A Pancreatic Arteriovenous Malformation

    Directory of Open Access Journals (Sweden)

    Anil Arora

    2013-05-01

    Full Text Available Context Upper gastrointestinal bleeding is one of the most common emergencies in gastroenterology. The common causes of the upper gastrointestinal bleeding include peptic ulcer disease, gastric erosive mucosal disease and portal hypertension. Gastrointestinal arteriovenous malformation is a less common cause of gastrointestinal bleeding and these arteriovenous malformation are most commonly located in the large and small intestine. Pancreatic arteriovenous malformation is a rare condition in which there is tumorlike formation or vascular anomaly built up via an aberrant bypass anastomosis of the arterial and venous systems in the pancreas. Splenic artery is most commonly involved (42%, followed by gastroduodenal artery (22% and small pancreatic arteries (25%. Clinically it may present as gastrointestinal hemorrhage which is occasionally fatal. Other presentations are abdominal pain, pancreatitis, duodenal ulcer, jaundice, and portal hypertension. Case report We present a rare case of pancreatic arteriovenous malformation presenting as massive upper gastrointestinal bleeding. Conclusion Since early surgery is a life saving treatment for such cases, hence, a high index of suspicion should be maintained especially when massive bleeding is detected from the medial wall of second part of duodenum.