Occult spontaneous lateral intrasphenoidal encephalocele: A rare presentation

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Shahina Bano

2013-01-01

Full Text Available Basal encephaloceles are extremely rare congenital malformations. Advanced cross-sectional imaging modalities like computed tomography and magnetic resonance imaging are necessary for diagnosing the asymptomatic, occult basal encephalocele and planning the surgical approach. We present an interesting case of clinically silent right-sided lateral intrasphenoidal encephalocele through a large bony defect.

Dandy-Walker syndrome together with occipital encephalocele.

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Cakmak, A; Zeyrek, D; Cekin, A; Karazeybek, H

2008-08-01

Dandy-Walker malformation is an anomaly characterized by dysgenesis of the foramina of Magendie and Lushka in the upper 4(th) ventricle, hypoplasia of the cerebellar vermis and agenesis of the corpus callosum. Encephalocele is diagnosed from the calvarium defect, cerebrospinal fluid (CSF) and herniation of the meninges. It is the rarest neural tube defect. A 7 x 9 cm encephalocele was found on physical examination of a 6-day old baby boy patient. From cranial magnetic resonance, it was seen that the posterior fossa was enlarged with cysts and there was agenesis of the vermis. A connection was established between the ventricle and the development of cysts on the posterior fossa. These findings were evaluated as significant from the aspect of Dandy-Walker malformation. The extension of the bone defect in the left occipital area towards the posterior, and the cranio-caudal diameter reaching 9 cm was seen to be in accordance with encephalocele. It is rare for Dandy-Walker syndrome to occur together with occipital encephalocele. The authors present a case of Dandy-Walker syndrome together with occipital encephalocele.

Orbital roof encephalocele mimicking a destructive neoplasm.

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Alsuhaibani, Adel H; Hitchon, Patrick W; Smoker, Wendy R K; Lee, Andrew G; Nerad, Jeffrey A

2011-01-01

The purpose of this case report is to report an orbital roof encephalocele mimicking a destructive orbital neoplasm. Orbital roof encephalocele is uncommon but can mimic neoplasm. One potential mechanism for the orbital roof destruction is a post-traumatic "growing orbital roof fracture." The growing fracture has been reported mostly in children but can occur in adults. Alternative potential etiologies for the encephalocele are discussed, including Gorham syndrome. Orbital roof encephalocele is uncommon in adults, and the findings can superficially resemble an orbital neoplasm. Radiographic and clinical features that might suggest the correct diagnosis include a prior history of trauma, overlying frontal lobe encephalomalacia without significant mass effect or edema, and an orbital roof defect. The "growing fracture" mechanism may be a potential explanation for the orbital roof destruction in some cases.

Temporal anteroinferior encephalocele: An underrecognized etiology of temporal lobe epilepsy?

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Saavalainen, Taavi; Jutila, Leena; Mervaala, Esa; Kälviäinen, Reetta; Vanninen, Ritva; Immonen, Arto

2015-10-27

To report the increasing frequency with which temporal anteroinferior encephalocele is a cause of adult temporal lobe epilepsy, to illustrate the clinical and imaging characteristics of this condition, and to report its surgical treatment in a series of 23 adult patients. Epilepsy patients diagnosed with temporal anteroinferior encephalocele from January 2006 to December 2013 in a national epilepsy reference center were included in this noninterventional study. Twenty-three epilepsy patients (14 female, mean age 43.8 years) were diagnosed with temporal anteroinferior encephalocele in our institute. Thirteen patients had ≥2 encephaloceles; 7 cases presented bilaterally. The estimated frequency of this condition was 0.3% among MRI examinations performed due to newly diagnosed epilepsy (n = 6) and 1.9% among drug-resistant patients referred to our center (n = 17). Nine patients with local encephalocele disconnection (n = 4) or anterior temporal lobectomy and amygdalohippocampectomy (n = 5) have become seizure-free (Engel 1) for a mean 2.8 years (range 3 months-6.2 years) of follow-up. Three patients with local encephalocele disconnection were almost seizure-free or exhibited worthwhile improvement. Histologically, all 12 surgical patients had gliosis at the base of the encephalocele; some had cortical laminar disorganization (n = 5) or mild hippocampal degeneration (n = 1). The possibility of a temporal encephalocele should be considered when interpreting MRI examinations of patients with medically intractable focal epilepsy. These patients can significantly benefit from unitemporal epilepsy surgery, even in cases with bilateral encephaloceles. © 2015 American Academy of Neurology.

Primary Occipital Encephalocele in an Elderly Patient.

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Barros, Fernanda Carvalho; Barros, Henrique Almeida; Júnior, Helvécio Marangon; Taitson, Paulo Franco

2016-05-01

The encephalocele is a condition characterized by the protrusion of the intracranial contents through a bone defect of the skull. The authors report a clinical case of an 80-year-old woman with primary occipital encephalocele on the right side and that was affected by trauma and presented liquor fistula and infection. Tomographic sections were obtained by injection intravenous of contrast. The images showed bone thickness thinning on the right occipital region and solution of continuity (encephalocele) with regular contours, reduction in brain volume, and hypodensity of the periventricular white substance were observed. The patient was successfully operated.

Nasal encephalocele: endoscopic excision with anesthetic consideration.

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Abdel-Aziz, Mosaad; El-Bosraty, Hussam; Qotb, Mohamed; El-Hamamsy, Mostafa; El-Sonbaty, Mohamed; Abdel-Badie, Hazem; Zynabdeen, Mustapha

2010-08-01

Nasal encephalocele may presents as a nasal mass, its treatment is surgical and it should be done early in life. When removal is indicated, there are multiple surgical approaches; including lateral rhinotomy, a transnasal approach and a coronal flap approach. However, the treatment of a basal intranasal encephalocele using transnasal endoscopic approach could obviates the possible morbidity associated with other approaches. The aim of this study was to evaluate the efficacy of endoscopic removal of intranasal encephalocele, also to document the role of anesthetist in the operative and postoperative periods. Nine cases with nasal encephalocele were included in this study; CT and/or MRI were used in their examination. The lesions were removed via transnasal endoscopic approach. Preoperative evaluation, intervention and postoperative follow-up were presented with discussion of anesthesia used for those children. The lesions of all patients were removed successfully with no recurrence through the follow-up period of at least 21 months. No cases showed morbidity or mortality intra- or post-operatively. Endoscopic excision of intranasal encephalocele is an effective method with high success rate. Anesthetist plays an important role in the operative and postoperative period, even during the endoscopic follow up; sedation of the children is usually needed. Copyright (c) 2010 Elsevier Ireland Ltd. All rights reserved.

Sincipital Encephaloceles: A Study of Associated Brain Malformations

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Shashidhar Vedavyas Achar

2016-01-01

Full Text Available Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%, and corpus callosal agenesis (12 patients was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients, hydrocephalus (7 patients, and agyria-pachygyria complex (2 patients. Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations.

Cocaine-induced encephalocele: case report and literature review.

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Albert, Ladislau; DeMattia, Joseph A

2011-01-01

The abuse of cocaine can lead to significant destruction of midline craniofacial structures. This process occurs secondary to myriad mechanisms, including ischemic necrosis, irritation by chemical adulterants, and direct trauma during its administration. Coupled with a prolonged chronic infection of intranasal and anterior skull base regions, an encephalocele can be formed. We report a case of an encephalocele secondary to cocaine use and its associated complications. A 56-year-old man presented with altered mental status and cerebritis secondary to the presence of an intranasal encephalocele. On computed tomography, extensive destruction of the anterior cranial fossa was observed. The patient had a 30-year history of intranasal cocaine abuse, and his urine tested positive for the presence of cocaine on admission. The patient was treated with intravenous antibiotics and underwent a repair of his cranial defect and resection of the encephalocele. The patient made a good recovery after treatment. Alternative causes of an encephalocele, including trauma, surgery, and congenital malformation, were ruled out in this patient. Histopathological analysis of the necrotic tissue and the absence of renal or pulmonary disease also indicated that the patient did not suffer from Wegener granulomatosis, a known cause of spontaneous intranasal lesions. To the best of our knowledge, this is the first report of an encephalocele likely induced solely by cocaine abuse.

Prognostic factors in patients with occipital encephalocele.

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Kiymaz, Nejmi; Yilmaz, Nebi; Demir, Ismail; Keskin, Siddik

2010-01-01

An encephalocele is a herniation of the brain and the meninges through a skull defect protruding towards the exterior. The condition is not rare when compared to spinal dysraphisms, but the worldwide incidence is not precisely known. The cases involving occipital encephaloceles which we have diagnosed in our clinic and the surgical approaches for this rare condition are presented herein. Thirty patients who were diagnosed with occipital encephaloceles and referred to our Neurosurgery Clinic at the Yuzuncu Yil University, Faculty of Medicine Research Hospital between 2000 and 2009 were enrolled in this study. The age of the patient, size of the sac, pathologies that accompanied the condition, and treatments applied were assessed. In the present study, 30 patients (22 girls and 8 boys), whose ages varied between newborn and 14 months, were evaluated. The encephalocele sac was located in the occipital region in 27 patients (90%) and in the occipitocervical region in 3 patients (3%). Nine (30%) of the 30 patients died; 2 in the preoperative period, 2 in the postoperative early period (0-7 days) and 5 in the late postoperative period (first week to 3 months). With the exception of the 2 patients who died preoperatively, surgery was performed on all of the patients. The mortality rate in our study was 29%. Our study demonstrated that factors which determine the prognosis of patients diagnosed with occipital encephaloceles include the size of the sac, the contents of the neural tissue, hydrocephaly, infections, and pathologies that accompany the condition. An occipital encephalocele is a congenital neurologic condition with an extremely high morbidity and mortality in spite of the treatments rendered pre- and postoperatively. Copyright 2010 S. Karger AG, Basel.

A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report

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Nath, H. D.; Mahapatra, A. K.; Borkar, S. A.

2014-01-01

In giant encephalocele, head size is smaller than the encelphalocele. Occipital encephalocele is the commonest of all encephalocele. In our case, there was rare association with giant encephalocele with old hemorrhage in the sac. This was a unique presentation. In world literature, there was rare association with giant encephalocele with hemorrhage.

A giant occipital encephalocele with spontaneous hemorrhage into the sac: A rare case report

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Nath, H. D.; Mahapatra, A. K.; Borkar, S. A.

2014-01-01

In giant encephalocele, head size is smaller than the encelphalocele. Occipital encephalocele is the commonest of all encephalocele. In our case, there was rare association with giant encephalocele with old hemorrhage in the sac. This was a unique presentation. In world literature, there was rare association with giant encephalocele with hemorrhage. PMID:25685207

Encephalocele and associated skull defects | Komolafe | West ...

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The case notes of the patients with encephalocele managed over a 5 year period were reviewed and the relevant data obtained. Seventy-six percent of the patients had occipital encephalocele. The average diameter of the skull defect was 1.8cm. Only 2(9.5%) of the patients had cranioplasty. Cosmesis was acceptable to all ...

Clival encephalocele and 5q15 deletion: a case report.

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Puvabanditsin, Surasak; Malik, Imran; Garrow, Eugene; Francois, Lissa; Mehta, Rajeev

2015-03-01

A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion. © The Author(s) 2014.

[A painful occipital mass revealing a posterior encephalocele].

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Meunier, Sarah; Michalak, Sophie; Chaigneau, Julien; Mercier, Philippe; Rousseau, Audrey

2014-08-01

Encephalocele is a congenital malformation caused by a neural tube defect during embryonic development. We report a case of posterior encephalocele in a 7-month-old infant with a painful occipital mass known since birth. Pathological examination of the mass showed different mature tissues derived from the brain and its coverings (e.g., neuroglia, ependymal canals and clusters of meningothelial cells). A diagnosis of encephalocele was made. The different forms of neural tube defect will be briefly discussed, especially the "aborted" forms (e.g., non-specific midline mass lesion or angioma) that the pathologist may encounter in his/her daily practice. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Transethmoidal encephalocele after reduction of high intracranial pressure in aqueductal stenosis.

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Sharifi, Guive; Alavi, Ehsan; Jalessi, Maryam; Haddadian, Karim; Faramarzi, Faezeh

2014-01-01

Acquired non-traumatic transethmoidal encephaloceles are very infrequent lesions that are generally caused by a tumor or hydrocephalus. As far as we know, there is no reported case of encephalocele after CSF diversion in the literature. We present a 25-year-old woman with hydrocephalus due to aquiductal stenosis who was treated with endoscopic third ventriculostomy. Nine months later, she had developed rhinorrhea and on imaging she had a transethmoidal encephalocele. She underwent endonasal endoscopic repair of the defect and removal of herniated parenchyma. CSF diversion to parasellar cisterns is not a known iatrogenic cause of basal encephalocele and is not noted elsewhere as a complication of third ventriculostomy. However, as third ventriculostomy is performed usually for intracranial hypertension treatment and intracranial hypertension itself is a known but rare cause of lacunar skull defect and encephalocele, this co-incidence may occur.

Congenital spinal tumor in a patient with encephalocele and hydrocephalus: a case report

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Mahjoub Fatemeh

2011-01-01

Full Text Available Abstract Introduction Encephalocele is a rare congenital abnormality of the central nervous system, where brain tissue protrudes from a defect in the skull. Some anomalies are associated with encephalocele. However, the association of spinal teratoma and encephalocele has not been reported in the English literature. Case presentation We report the case of an Iranian girl with a history of encephalocele surgery, who, at the age of four years, developed an intramedullary spinal teratoma, and discuss the pathogenesis of this association. Conclusion To the best of our knowledge, this is the first report of an association between encephalocele and spinal teratoma.

Partial thickness autologus calvarial bone orbitocranioplasty for a sphenorbital encephalocele presenting as pulsatile exophthalmos

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Trivedi, Adarsh; Garg, Amrish Kumar; Hiran, Subodh

2015-01-01

Basal encephalocele accounts only 1.5% of all encephaloceles. But Sphenorbital encephalocele is the rarest cause of herniation of brain into orbit leading to pulsatile exphothalmos. Authors presenting a case of sphenorbital encephalocele in a 16 yrs old girl successsfully managed by orbitcranioplasty by partilal thickness autologus calvarial bone graft.

Conjunctival Mass as an Initial Presentation of Iatrogenic Orbital Encephalocele.

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Rautenbach, Pierre; Thyagaraja, Dhanurjaya Vignesh; Irvine, Fiona

2015-01-01

A 46-year-old woman presented with a symptomatic conjunctival mass of the right eye, appearing 2 months after undergoing right frontal craniotomy to excise a meningioma. MRI of the brain revealed a new iatrogenic encephalocele extending into the right temporal orbit. Our opinion is that the conjunctival mass resulted directly from this encephalocele. To date this has been conservatively managed, and we believe this to be the first report of an iatrogenic encephalocele presenting in this manner.

MRI and CT Imaging of an Intrasphenoidal Encephalocele: A Case Report

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Agladioglu, Kadir; Ardic, Fazıl Necdet; Tumkaya, Funda; Bir, Ferda

2014-01-01

Intrasphenoidal encephalocele (ISE) is a rare clinical entity. The incidence of congenital encephalocele is very low. Accurate diagnosis and surgical approach is of critical value. We present a case of intrasphenoidal encephalocele in a 40-year-old man. He complained of cerebrospinal fluid (CSF) rhinorrhea and recurrent meningitis. In images of computed tomography (CT) and magnetic resonance imaging (MRI), intrasphenoidal encephalocele herniating through a defect of the left lateral sphenoid sinus wall was determined. Incisional biopsies were taken by endoscopic transnasal approach and histopathological examination revealed an encephalocele. In the differential diagnosis, ISE can be taken for inflammatory or malignant sinusoidal soft tissue masses. ISE is differentiated from other entities by demonstrating continuity with normal brain tissue. MRI clearly demonstrates that the herniating soft tissue is isointense with brain and continuous with brain tissue via the sphenoid sinus, thereby the treatment decision-making process is very important

Les encephaloceles au Chu Tokoin de Lome | Gnassingbe | Journal ...

African Journals Online (AJOL)

Seven of the patients had occipital encephalocele. The associated malformations were: spina bifida (1 case), rounded forehead associated with a polydactyly (1 case) and microcephaly associated with a syndactyly (1 case). Eight (8) patients had benefitted a surgical cure of the encephalocele. A patient died at birth.

Pilocytic Astrocytoma Presenting as an Orbital Encephalocele: A Case Report

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Amy Bruzek

2015-04-01

Full Text Available We describe the case of a 29-year-old male who presented with new-onset seizures. He was subsequently found to have an orbital encephalocele containing a focus of pilocytic astrocytoma. We believe that this is the first report of a pilocytic astrocytoma located within the orbit that did not originate from the optic pathway. It is also the first case of a pilocytic astrocytoma completely contained within an encephalocele. This case suggests a close pathological examination of encephaloceles for underlying diseases.

Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele.

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Da Silva, Stephanie L; Jeelani, Yasser; Dang, Ha; Krieger, Mark D; McComb, J Gordon

2015-04-01

There is a known association of hydrocephalus with encephaloceles. Risk factors for hydrocephalus and neurological deficit were ascertained in a series of patients born with an encephalocele. A retrospective analysis was undertaken of patients treated for encephaloceles at Children's Hospital Los Angeles between 1994 and 2012. The following factors were evaluated for their prognostic value: age at presentation, sex, location of encephalocele, size, contents, microcephaly, presence of hydrocephalus, CSF leak, associated cranial anomalies, and neurological outcome. Seventy children were identified, including 38 girls and 32 boys. The median age at presentation was 2 months. The mean follow-up duration was 3.7 years. Encephalocele location was classified as anterior (n = 14) or posterior (n = 56) to the coronal suture. The average maximum encephalocele diameter was 4 cm (range 0.5-23 cm). Forty-seven encephaloceles contained neural tissue. Eight infants presented at birth with CSF leaking from the encephalocele, with 1 being infected. Six patients presented with hydrocephalus, while 11 developed progressive hydrocephalus postoperatively. On univariate analysis, the presence of neural tissue, cranial anomalies, encephalocele size of at least 2 cm, seizure disorder, and microcephaly were each positively associated with hydrocephalus. On multivariate logistic regression modeling, the single prognostic factor for hydrocephalus of borderline statistical significance was the presence of neural tissue (odds ratio [OR] = 5.8, 95% confidence interval [CI] = 0.8-74.0). Fourteen patients had severe developmental delay, 28 had mild/moderate delay, and 28 were neurologically normal. On univariate analysis, the presence of cranial anomalies, larger size of encephalocele, hydrocephalus, and microcephaly were positively associated with neurological deficit. In the multivariable model, the only statistically significant prognostic factor for neurological deficit was presence of

Spontaneous Temporal Pole Encephalocele Presenting with Epilepsy: Report of Two Cases.

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Shimada, Seijiro; Kunii, Naoto; Kawai, Kensuke; Usami, Kenichi; Matsuo, Takeshi; Uno, Takeshi; Koizumi, Tomoyuki; Saito, Nobuhito

2015-09-01

Refractory temporal lobe epilepsy due to spontaneous temporal pole encephalocele is a rare but increasingly recognized condition. Optimal surgical management is complicated by the lack of knowledge regarding both the extent of the epileptogenic area and the need for repair of the encephalocele. We report two cases that add significant information to these issues. In Case 1, with a 5-year history of refractory seizures, implantation of diagnostic subdural electrodes into the anterior temporal base happened to abolish the seizures completely. No structural changes were evident on postoperative magnetic resonance imaging. In Case 2, with a large encephalocele and a 5-year history of refractory seizures, surgical disconnection of the temporal pole successfully abolished seizures without any need for encephalocele repair. These two cases support the view that the epileptogenic area is confined to within the temporal pole for spontaneous temporal pole encephalocele. Temporopolar disconnection represents one surgical option for this entity that achieves seizure cessation without requiring extra repair procedures. Copyright © 2015 Elsevier Inc. All rights reserved.

Intradiploic encephalocele of the left parietal bone: A case report

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Kim, Hyung Sock; Huh, Choon Woong; Kim, Dal Soo; Mok, Jin Ho; Kim, In Soo; Yang, Geun Seok [Myongji St. Mary' s Hospital, Seoul (Korea, Republic of)

2015-06-15

Encephaloceles are generally regarded as midline abnormalities. A 50-year-old man presented with a parietal intradiploic encephalocele manifesting as intermittent headache for the past 6 months. Computed tomography (CT) showed bone destruction associated with a left parietal lesion. Magnetic resonance imaging (MRI) demonstrated brain herniation within the intradiploic space. Cerebral angiographic imaging showed a normal cerebral vessel pattern within the herniated brain lesion. In this case, surgical treatment may not be necessary in the absence of concurrent symptoms and neurologic deficit. We report the CT, MRI, and angiographic findings of an extremely rare case of parietal intradiploic encephalocele in adulthood.

Encephalocele presenting as lower lid swelling: A rare case report

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Vaibhav Kumar Jain

2018-01-01

Full Text Available Encephalocele is a rare congenital abnormality characterized by abnormal protrusion of brain and meninges through an opening in the skull. We report an 8-year-old girl who presented with a swelling in the right lower lid for the last 6 years. In her infancy, she had undergone surgery for a very small swelling located in the right nasolacrimal area. On further clinicoradiological evaluation, anterior encephalocele was diagnosed. This case highlights the uncommon site of anterior encephalocele; misdiagnosis and mismanagement of which could result in dreaded complications such as meningitis and cerebrospinal fluid leaking fistula formation.

Intradiploic encephalocele of the left parietal bone: A case report

International Nuclear Information System (INIS)

Kim, Hyung Sock; Huh, Choon Woong; Kim, Dal Soo; Mok, Jin Ho; Kim, In Soo; Yang, Geun Seok

2015-01-01

Encephaloceles are generally regarded as midline abnormalities. A 50-year-old man presented with a parietal intradiploic encephalocele manifesting as intermittent headache for the past 6 months. Computed tomography (CT) showed bone destruction associated with a left parietal lesion. Magnetic resonance imaging (MRI) demonstrated brain herniation within the intradiploic space. Cerebral angiographic imaging showed a normal cerebral vessel pattern within the herniated brain lesion. In this case, surgical treatment may not be necessary in the absence of concurrent symptoms and neurologic deficit. We report the CT, MRI, and angiographic findings of an extremely rare case of parietal intradiploic encephalocele in adulthood

Two cases of spontaneous temporal encephalocele.

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Kamiya, Kouhei; Mori, Harushi; Kunimatsu, Akira; Kawai, Kensuke; Usami, Kenichi; Ohtomo, Kuni

2012-12-01

This is a report of two cases of spontaneous temporal encephalocele: one was anteroinferior and presented with epilepsy; the other was posteroinferior and presented with facial neuritis and labyrinthitis. Spontaneous temporal encephalocele is relatively rare and apparently not familiar to a majority of primary physicians. It may present with a variety of symptoms according to its anatomical location, including cerebrospinal fluid fistulas, recurrent meningitis, chronic otitis media, hearing loss, facial nerve palsy and medically intractable epilepsy. Attention should be paid to this disease entity, as it is easily overlooked in imaging studies and can leave serious neurological deficits. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Neurosurgical Interventions for Occipital Encephalocele

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Rehman, Lal; Farooq, Ghulam; Bukhari, Irum

2018-01-01

Aims and Objectives: The aim of this study is to find the outcome of repair and resection of the occipital encephalocele. Study Design: Case series. Materials and Methods: The clinical data of fifty consecutive occipital encephalocele patients were retrieved from medical records including operative notes, postoperative follow-up visits, and postsurgical complications were noted for analysis from November 2009 to November 2013 at the Department of Neurosurgery, Jinnah Postgraduate Medical Centre, Karachi, Pakistan. All patients were assessed by computed tomography scan, magnetic resonance imaging brain, and ultrasound when needed. Physician's assessment, physical examination, and his/her questions to the family at follow-up were used as a tool to determine if there was a developmental delay rather than quantitative analysis like hydrocephalus questionnaires. Patients who developed complications and delayed milestone were regarded as no improvement and those who did not develop complications and achieved appropriate milestone were regarded as improved at 18 months follow-up. Results: Of 50 patients, 17 were males and 33 were females. The average age at presentation was 2.4 months. 16 (32%) patients had increased head circumference and hydrocephalus, 2 (4%) had associated Dandy–Walker cyst, 3 (6%) developed developmental delays, and 8 (15%) had a seizure disorder. None of our patients had neurological deficits. The size of the sac ranged from 2 cm × 3 cm to 27 cm × 15 cm. 9 (18%) patients were admitted with the complication of sac rupture and 2 (4%) patients sac ruptured after admission. Only one patient (2%) had a cerebrospinal fluid leak postoperatively that was repaired primarily without patch graft or dura seal while 4 (8%) developed hydrocephalus after repair of the sac which was treated with placement of ventriculoperitoneal shunt. One (2%) patient did not recover from anesthesia and expired. Conclusion: Encephalocele is commonly seen in the practice of

Atretic encephalocele/myelocele--case reports with emphasis on pathogenesis.

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Hong, E. K.; Kim, N. H.; Lee, J. D.

1996-01-01

Atretic encephaloceles or myelomeningoceles are frequently solid due to hamartomatous proliferation of fibrous tissue and blood vessels. Because of the fibrous nature of the tumor with no cystic cavity and unusual location with no connection to CNS, they are frequently regarded as insignificant hamartomas. Apart from this terminology, they are also described as cutaneous meningiomas or hamartomas with ectopic meningothelial elements by the presence of meningothelial cells. We report a case of atretic encephalocele in the parietal scalp of an 8 year-old boy and a case of myelomeningocele in the posterior mediastinum of a 31 year-old woman. The terms atretic encephalocele and myelomeningocele are more appropriate for these cases because they include their pathogenesis and the non-neoplastic nature of the lesion. PMID:8878809

Association of benign intracranial hypertension and spontaneous encephalocele with cerebrospinal fluid leak.

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Brainard, Laura; Chen, Douglas A; Aziz, Khaled M; Hillman, Todd A

2012-12-01

To determine the incidence of intracranial hypertension in patients with spontaneous encephalocele with cerebrospinal fluid (CSF) leak. Retrospective case review. Tertiary care neurotology practice. Patients presenting between 2008 and 2011 with spontaneous encephalocele and CSF leak in the temporal bone. Lumbar puncture with opening pressure measurement after encephalocele repair. Patient age, sex, postoperative course, body mass index, and postoperative intracranial pressure. Of the 26 patients identified with spontaneous encephalocele with CSF leak, 9 patients had postoperative lumbar puncture data. Of those 9, 89% were female subjects, and 11% were male, with a mean age of 57 and a mean BMI of 41 kg/m (morbidly obese). The mean opening pressure was 24.5 cm H(2)O. Approximately 33% had normal intracranial pressure (mean, 15 cm H(2)O; range, 10-17 cm H(2)O); 67% had elevated intracranial pressure (mean, 29 cm H(2)O; range, 23.5-40 cm H(2)O). The incidence of BIH in the general population is 0.001%. Of the 6 with intracranial hypertension, 3 (50%) were placed on acetazolamide for fundoscopic findings, postoperative headache, and/or visual changes. Mean time to LP after repair of encephalocele was 13 months (range, 4 days to 75 months). This study shows that benign intracranial hypertension is prevalent in a significant number of patients presenting with spontaneous encephalocele with CSF otorrhea at a rate much higher than is found in the general population. This finding has direct clinical implications and suggests that all patients with spontaneous encephalocele/CSF leak warrant evaluation for benign intracranial hypertension.

Acquired Encephalocele With Hydrocephalus and Pineal Region Epidermoid Cyst.

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Toktaş, Zafer Orkun; Yilmaz, Baran; Ekşi, Murat Şakir; Bayoumi, Ahmed B; Akakin, Akin; Yener, Yasin; Demir, Mustafa Kemal; Kiliç, Türker

2016-07-01

A combination of trauma and a missed inflammatory response (nasal operation) concomitant with hydrocephalus and tumor in secondary encephalocele has not been described in the English literature yet. A 38-year-old man was admitted to the clinic with rhinorrhea that started 3 months ago. In his medical history, nothing abnormal was present except a nasal operation performed 1 year ago. Brain magnetic resonance imaging depicted left frontal encephalocele concomitant with obstructive hydrocephalus caused by an epidermoid cyst originated from the pineal region. A 2-staged surgery was planned. In the first stage, a ventriculoperitoneal shunt insertion was conveyed successfully. In the second-stage surgery, the herniated brain tissue was excised, and the frontal sinus was cleansed with serum saline combined with antibiotic. The bony defect and the dura defect were repaired. The patient's presenting complaint recovered fully, and he was discharged to home in a well condition. Acquired encephalocele is a rare entity. In case of rhinorrhea and encephalocele, even in the presence of prior history of nasal surgery, intracranial evaluation should be conveyed to exclude the presence of hydrocephalus and/or tumor. The cranial defect should be repaired to prevent future infections and brain tissue damage.

Atretic fronto-ethmoidal encephalocele

International Nuclear Information System (INIS)

Amer, S.

2003-01-01

This case report describes a 4 months old infant with a lump on forehead since birth. The lump turned out to be an atretic encephalocele. Herniation of brain matter through scalp suture lines during intrauterine life is a rare happening. Congenital and environmental factors have been implicated. (author)

Mammoth orbitofrontal neurofibromatosis with herniating meningo-encephalocele

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Dhanraj Prema

2010-01-01

Full Text Available We are presenting a mammoth orbito-frontal neurofibroma with a herniating meningo-encephalocele in a 23 year old African male. The tumour measured 87cm Χ 54cm and occupied the right orbito-temporo-facial region and had destroyed the right orbit. A pre operative embolization of the feeding vessels was followed by a one stage near total excision of the tumour and repair of the meningo-encephalocele in hypotensive anaesthesia. The excised tumour weighed 8 Kg and, to the best of our knowledge, is the largest orbito-facial neurofibroma reported in literature.

Growth and Psychological Development in Postoperative Patients With Anterior Encephaloceles.

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Dutta, Hemonta Kumar; Khangkeo, Chow Wachana; Baruah, Kaberi; Borbora, Debasish

2017-06-01

Anterior encephaloceles are rare malformations that are frequently associated with other brain anomalies. This study evaluates the growth and psychological development of children following encephalocele repair. Growth and psychological assessment was done in 24 children with only encephalocele (group I); nine children with encephalocele and hydrocephalus (group II); seven children with encephalocele, hydrocephalus, and secondary malformations (group III); and 40 apparently healthy control subjects. Psychological assessment was done by evaluating intelligence and temperament. Single-stage repair was performed in 38 children, and two underwent multistage repair. Major postoperative complications were noted in three individuals. The follow-up period ranged from 12 to 168 months, and during this time the growth velocity declined significantly among group II and group III patients when compared with control subjects. After adjusting the body mass index for age, our data revealed that group III participants had a significantly (P = 0.02) lower body mass index than the control group. Group III also had poor indices for intelligence quotient (P ≤ 0.01) and temperament (P ≤ 0.01). Female patients had lower temperament indices when compared with unaffected females with regard to approach withdrawal (P ≤ 0.01), mood (P = 0.026), and intensity (P = 0.03). Overall, increased disease severity adversely affected the psychological indices. Individuals with anterior encephalocele without associated intracranial defects had excellent postoperative outcomes in terms of growth and psychological developments. Hydrocephalus and agenesis of corpus callosum had the least impact on psychological development. However, the presence of secondary brain defects led to developmental delays. Gender differences in temperament may suggest a need for distinct treatment regimens to assess psychosocial well-being for males and females. Copyright © 2017 Elsevier Inc. All rights

A Rare Presentation of a Transethmoidal Encephalocele at Birth

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Anand Vishwanath Upasani

2014-10-01

Full Text Available Transethmoidal encephalocele is a very rare condition. Herein, we report the case of a neonate with a transethmoidal encephalocele, who presented with an externally visible intranasal mass at birth. Clinical suspicion of intracranial extension was confirmed by radiological imaging. A bifrontal craniotomy was done to divide the narrow communicating duct. The mass was delivered through the nostril and duraplasty was completed. The postoperative recovery was uneventful.

Naso-ethmoidal encephalocele with bilateral orbital extension: report of a case in a western country.

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Secci, Francesca; Consales, Alessandro; Merciadri, Paolo; Ravegnani, Giuseppe Marcello; Piatelli, Gianluca; Pavanello, Marco; Cama, Armando

2013-10-01

Encephalocele is a rare congenital malformation of the central nervous system with protrusion of cranial content (meninges, brain, and ventricles in different combinations) beyond the normal confines of the skull. Anterior encephaloceles occur with a high frequency in Southeast Asia, while in the Western countries occipital encephaloceles prevail. The treatment of an anterior (naso-ethmoidal) encephalocele involves a neurosurgeon or a multidisciplinary team (neurosurgeon, maxillofacial surgeon, plastic surgeon, and ENT surgeon) dealing with craniofacial surgery. Goals of surgery include removal or repositioning of nonfunctional cerebral tissue, closure of the dura, and reconstruction of skeletal and cutaneous structures. The prognosis depends from the anatomical site, volume of neural contents, and the presence of coexisting malformations. We report the case of an Italian child suffering from a naso-ethmoidal encephalocele with bilateral orbital extension. The surgical treatment was performed in two steps. Sincipital encephalocele is a complex pathology without a unique standardized surgical treatment. Its low incidence in Western countries can make its management particularly tricky.

A rare presentation of a transethmoidal encephalocele at birth.

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Upasani, Anand Vishwanath; Patel, Dhiren Nanjibhai; Chandna, Sudhir Bhisham

2014-10-01

Transethmoidal encephalocele is a very rare condition. Herein, we report the case of a neonate with a transethmoidal encephalocele, who presented with an externally visible intranasal mass at birth. Clinical suspicion of intracranial extension was confirmed by radiological imaging. A bifrontal craniotomy was done to divide the narrow communicating duct. The mass was delivered through the nostril and duraplasty was completed. The postoperative recovery was uneventful. Copyright © 2013. Published by Elsevier B.V.

Combined transnasal and transoral endoscopic approach to a transsphenoidal encephalocele in an infant.

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Tan, Sien Hui; Mun, Kein Seong; Chandran, Patricia Ann; Manuel, Anura Michelle; Prepageran, Narayanan; Waran, Vicknes; Ganesan, Dharmendra

2015-07-01

This paper reports an unusual case of a transsphenoidal encephalocele and discusses our experience with a minimally invasive management. To the best of our knowledge, we present the first case of a combined endoscopic transnasal and transoral approach to a transsphenoidal encephalocele in an infant. A 17-day-old boy, who was referred for further assessment of upper airway obstruction, presented with respiratory distress and feeding difficulties. Bronchoscopy and imaging revealed a transsphenoidal encephalocele. At the age of 48 days, he underwent a combined endoscopic transnasal and transoral excision of the nasal component of the encephalocele. This approach, with the aid of neuronavigation, allows good demarcation of the extra-cranial neck of the transsphenoidal encephalocele. We were able to cauterize and carefully dissect the sac prior to excision. The defect of the neck was clearly visualized, and Valsalva manoeuvre was performed to exclude any CSF leak. As the defect was small, it was allowed to heal by secondary intention. The patient's recovery was uneventful, and he tolerated full feeds orally on day 2. Postoperative imaging demonstrated no evidence of recurrence of the nasal encephalocele. Endoscopic follow-up showed good healing of the mucosa and no cerebrospinal fluid leak. The surgical management of transsphenoidal encephalocele in neonates and infants is challenging. We describe a safe technique with low morbidity in managing such a condition. The combined endoscopic transnasal and transoral approach with neuronavigation is a minimally invasive, safe and feasible alternative, even for children below 1 year of age.

Secondary adult encephalocele with abscess formation of calcified frontal sinus mucocele.

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Oh, Byeong Ho; Lee, Ok-Jun; Park, Young Seok

2016-07-01

Although encephalocele is a rare congenital abnormality, secondary encephalocele is extremely rare and can cause fatal complications. Here, we report a case of secondary encephalocele caused by frontal sinus wall defect due to chronic sinusitis, which was completely removed by cranialization with autologous bone graft. A 50-year-old man with a 10-year history of chronic sinusitis visited our hospital due to suddenly altered mentality characterized by stupor. Computerized tomography scanning and magnetic resonance imaging revealed an enlarged left frontal sinus with sinusitis. The frontal sinus cavity was calcified, and the left frontal lobe had herniated into the cavity accompanied by yellow pus. A large dural defect was also found around the frontal sinus area. After removal of the abscess and some of the frontal lobe, frontal skull base repair by cranialization was performed using autologous bone graft. Streptococcus pneumoniae was cultured from the cerebrospinal fluid (CSF), necessitating treatment with antibiotics. After the operation, the mental status of the patient improved and no CSF leakage was observed. In addition to correct diagnosis and early treatment including antibiotics, the surgical repair of defects is needed in patients with secondary encephalocele to prevent further episodes of meningitis. Surgical correction of frontal sinus encephalocele can be achieved through bifrontal craniotomy or endoscopic transnasal repair. If a patient has CSF leakage, open craniotomy may facilitate repair of the dural defect and allow for cranialization of the sinus. Removal of dysplastic herniated brain tissue and cranialization of the frontal sinus may be a good option for treating secondary encephalocele and its associated complications, including meningitis, abscess formation, and infarction of the herniated brain parenchyma.

Basal transethmoidal encephalocele and malignant hypertension in a parturient with a seizure disorder. A case report.

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Yee, Lynn M; Kacmar, Rachel M; Bolden, Janelle R

2015-01-01

Nasal encephaloceles are uncommon in North America and may be diagnosed only as incidental findings. The presence of an encephalocele and malignant hypertension in the parturient requires complex coordination of care. We present a case of severe chronic hypertension in a pregnant patient with a seizure disorder and new finding of a basal transethmoidal encephalocele. She required 5 antihypertensive agents and cesarean delivery at 34 weeks' gestation under general anesthesia. The obstetric and anesthetic management of encephalocele are reviewed. Nasal encephaloceles are rarely reported in pregnancy and present additional peripartum obstetric and anesthetic considerations that require multidisciplinary planning for optimization of maternal and fetal outcomes.

[Modern diagnosis and treatment in children with congenital basal encephalocele].

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Sakharov, A V; Roginskiy, V V; Kapitanov, D N; Ivanov, A L; Shelesko, E V; Gorelyshev, S K; Evteev, A A; Lemeneva, N V; Zinkevich, D N; Kochkin, Yu A; Ozerova, V I; Satanin, L A

Basal encephalocele is a rare disease that predominantly occurs in children. Its most common symptoms include nasal liquorrhea, difficulty in nasal breathing, and deformity of the naso-orbital region. The study group included 19 patients with basal encephalocele, aged 2 months to 18 years. Ten (59%) patients were operated on through a transnasal endoscopic approach; 3 (17.5%) patients were operated on through a transcranial approach; 4 (23.5%) patients were operated on using a combined approach: the patients underwent simultaneous elimination of a cranio-orbital region deformity using the basal transcranial approach as well as hernial sac resection and hernioplasty using the transnasal endoscopic approach. Two children had no surgery due to minimal symptoms and a lack of cerebrospinal fluid leak. Application of the algorithms for diagnosis and treatment of encephalocele, suggested by the authors, enabled making the timely diagnose, defining the optimal surgical tactics, and achieving good treatment results. A differentiated approach to the choice of a surgical technique for basal encephalocele, the use of auto-tissues for skull base reconstruction, intraoperative and postoperative lumbar drainage, and simultaneous elimination of deformity of the fronto-naso-orbital region enable avoiding complications and achieving good functional and aesthetic results.

Recurrent meningitis and frontal encephalocele as delayed complications of craniofacial trauma.

Science.gov (United States)

Gumussoy, Murat; Ugur, Omer; Cukurova, Ibrahim; Uluyol, Sinan

2014-03-01

Frontal sinus back table fractures are seen rarely; also, typical presentation of frontal sinus encephalocele as a delayed complication of frontal sinus fracture is seen more rarely. We present a case of frontal encephalocele and recurrent meningitis as delayed complications of craniofacial trauma. Diagnosis, management, and treatment approaches of these complications are discussed.

Corpus callosum lipoma with frontal encephalocele

International Nuclear Information System (INIS)

Srinivasa Rao, A.; Rao, V.R.K.; Ravi Mandalam, K.; Gupta, A.K.; Kumar, S.; Joseph, S.; Unni, M.

1990-01-01

Computed tomographic and plain X-ray observations in a patient with corpus callosum lipoma associated with frontal encephalocele are reported. The rarity of the lesion and the specific diagnostic criteria on CT are emphasised. (orig.)

Congenital occipital encephalocele with Dabska tumor: report of an unusual case.

Science.gov (United States)

Rumana, M; Khursheed, N; Ramzan, A

2012-01-01

Encephaloceles arise from developmental defects in neural tube formation. These lesions contain brain and meninges which herniate through a defect in the skull. These may present as isolated malformations or rarely be associated with brain tumors. We hereby discuss a case of an unusual association of an occipital encephalocele with papillary intralymphatic angioendothelioma or Dabska tumor arising from the sac itself. The patient underwent resection of the herniated brain tissue with repair and closure of the dural defect. Histopathological examination revealed evidence of Dabska tumor from the sac. This is the first case report of the association of an occipital encephalocele with a rare vascular tumor, i.e. papillary intralymphatic angioendothelioma. Copyright © 2012 S. Karger AG, Basel.

Nasopharyngeal encephalocele: a rare cause of upper airway obstruction.

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Kalkan, Gokhan; Paksu, Sukru; Asilioglu, Nazik; Kiliç, Mehmet

2013-04-01

Nasopharyngeal encephalocele is a rare, benign congenital anomaly. It has the potential to be fatal due to airway obstruction. Here, we report on a 34-day-old infant with pneumonia who underwent mechanical ventilation. An upper airway evaluation was performed due to prolonged intubation, and revealed the presence of a nasopharyngeal encephalocele. The patient tolerated extubation and oral feeding after surgical resection of the lesion. Awareness of the condition can help clinicians arrive at an earlier diagnosis and enhance management.

[First trimester diagnosis of encephalocele--report of two cases and review of the literature].

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Borowski, Dariusz; Wegrzyn, Piotr; Bartkowiak, Robert; Wyrwas, Dorota; Wielgoś, Mirosław

2011-09-01

The authors present two cases of encephalocele, diagnosed at 11(+0)-13(+6) wks scan. Case 1: Occipital encephalocele (max diameter 14 mm) without brain tissue was diagnosed at 12 wks. At 35 wks bilateral ventriculomegaly was additionally found. The course of pregnancy was uneventful. Encephalocele was closed surgically soon after delivery Normal neonatal development at 6 months of age was confirmed. Case 2: Occipital encephalocele (max diameter 34 mm) containing brain tissue was diagnosed at 12 wks. Two weeks later fetal demise was confirmed during ultrasound examination. Uncomplicated induction of abortion was performed locally. The outcome and possible clinical scenarios in both cases, together with review of literature, are presented in the article.

Surgical resection of large encephalocele: a report of two cases and consideration of resectability based on developmental morphology.

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Ohba, Hideo; Yamaguchi, Satoshi; Sadatomo, Takashi; Takeda, Masaaki; Kolakshyapati, Manish; Kurisu, Kaoru

2017-03-01

The first-line treatment of encephalocele is reduction of herniated structures. Large irreducible encephalocele entails resection of the lesion. In such case, it is essential to ascertain preoperatively if the herniated structure encloses critical venous drainage. Two cases of encephalocele presenting with large occipital mass underwent magnetic resonance (MR) imaging. In first case, the skin mass enclosed the broad space containing cerebrospinal fluid and a part of occipital lobe and cerebellum. The second case had occipital mass harboring a large portion of cerebrum enclosing dilated ventricular space. Both cases had common venous anomalies such as split superior sagittal sinus and high-positioned torcular herophili. They underwent resection of encephalocele without subsequent venous congestion. We could explain the pattern of venous anomalies in encephalocele based on normal developmental theory. Developmental theory connotes that major dural sinuses cannot herniate into the sac of encephalocele. Irrespective to its size, encephalocele can be resected safely at the neck without subsequent venous congestion.

[A case of proptosis by traumatic delayed meningo-encephalocele].

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Shi, Ming; Gao, Xue; Zhao, Mei

2015-06-01

A case of traumatic delayed meningo-encephalocele suffered orbital fracture, but bony defects in frontal sinus had not been found on CT scanning. We treated the patient with surgery of intranasal endoscopy and repaired the skull base defect successfully during the first attempt. There was no recurrence in 10 months followed up. The leak site may not correlate with imaging in traumatic delayed meningo-encephalocele by comparing operative findings with the imaging estimate and endoscopy. Therefore, endoscopical approaching is effective in seeking and treatment.

Nasopharyngeal Mass Diagnosed as Transsphenoidal Encephalocele in an Adult Patient.

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Ertas, Burak; Aksoy, Elif Ayanoglu; Unal, Omer Faruk

2015-11-01

Transsphenoidal encephalocele, a rare congenital malformation, is generally diagnosed during childhood when investigating the reason for complaints such as nasal obstruction and recurring cerebrospinal fluid fistula. In this adult patient, the authors identified an asymptomatic transsphenoidal encephalocele after requested monitoring of a pedunculated mass detected in the nasopharynx during nasal endoscopy. After evaluation, the authors decided to follow the patient. Few cases of transsphenoidal encephalocele have been reported, and even fewer have been reported in older patients, with no other anomaly or symptoms. The success of surgical treatment for these masses is debatable. The authors did not consider surgery for this asymptomatic case. With this case presentation, the authors wish to emphasize that without making radiologic assessments of any masses identified in a nasopharyngeal examination, it would be inappropriate to perform a biopsy or any intervention.

Lateral posterior fossa encephalocele with associated migrational disorder of the cerebellum in an infant.

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Hamilton, Kimberly M; Wiens, Andrea L; Fulkerson, Daniel H

2011-11-01

Encephaloceles are acquired or congenital defects in which intracranial contents protrude through a defect in the calvaria. The embryogenesis of these lesions is incompletely understood. The vast majority of lesions occur at or near the anatomical midline. The authors present an extremely rare case of a laterally oriented, pathologically proven encephalocele associated with a posterior fossa cyst and cerebellar migrational defect in an infant. The authors review past and current theories of encephalocele formation as it relates to this case.

Epilepsy with temporal encephalocele: Characteristics of electrocorticography and surgical outcome.

Science.gov (United States)

Panov, Fedor; Li, Yi; Chang, Edward F; Knowlton, Robert; Cornes, Susannah B

2016-02-01

Temporal lobe encephaloceles (TEs) are increasingly identified in patients with epilepsy due to advances in neuroimaging. Select patients become seizure-free with lesionectomy. In practice, however, many of these patients will undergo standard anterior temporal lobectomy. Herein we report on the first series of patients with refractory temporal lobe epilepsy (TLE) with encephalocele to undergo chronic or intraoperative electrocorticography (ECoG) in order to characterize the putative epileptogenic nature of these lesions and help guide surgical planning. This retrospective study includes nine adult patients with magnetic resonance imaging/computed tomography (MRI/CT)-defined temporal encephalocele treated between 2007 and 2014 at University of California San Francisco (UCSF). Clinical features, ECoG, imaging, and surgical outcomes are reviewed. Six patients underwent resective epilepsy surgery. Each case demonstrated abnormal epileptiform discharges around the cortical area of the encephalocele. Two underwent tailored lesionectomy and four underwent lesionectomy plus anterior medial temporal resection. Postoperatively, five patients, including both with lesionectomy only, had Engel class Ia surgical outcome, and one had a class IIb surgical outcome. The role of TE in the pathogenesis of epilepsy is uncertain. ECoG can confirm the presence of interictal epileptiform discharges and seizures arising from these lesions. Patients overall had a very good surgical prognosis, even with selective surgical approaches. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

Repair of Temporal Bone Encephalocele following Canal Wall Down Mastoidectomy

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Sarantis Blioskas

2014-01-01

Full Text Available We report a rare case of a temporal bone encephalocele after a canal wall down mastoidectomy performed to treat chronic otitis media with cholesteatoma. The patient was treated successfully via an intracranial approach. An enhanced layer-by-layer repair of the encephalocele and skull base deficit was achieved from intradurally to extradurally, using temporalis fascia, nasal septum cartilage, and artificial dural graft. After a 22-month follow-up period the patient remains symptom free and no recurrence is noted.

Recurrent meningitis associated with frontal sinus tuber encephalocele in a patient with tuberous sclerosis.

Science.gov (United States)

Elbabaa, Samer K; Riggs, Angela D; Saad, Ali G

2011-07-01

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder that commonly affects the CNS. The most commonly associated brain tumors include cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas (SEGAs). The authors report an unusual case of recurrent meningitis due to a tuber-containing encephalocele via the posterior wall of the frontal sinus. An 11-year-old girl presented with a history of TSC and previous SEGA resection via interhemispheric approach. She presented twice within 4 months with classic bacterial meningitis. Cerebrospinal fluid cultures revealed Streptococcus pneumoniae. Computed tomography and MR imaging of the brain showed a right frontal sinus encephalocele via a posterior frontal sinus wall defect. Both episodes of meningitis were treated successfully with standard regimens of intravenous antibiotics. The neurosurgical service was consulted to discuss surgical options. Via a bicoronal incision, a right basal frontal craniotomy was performed. A large frontal encephalocele was encountered in the frontal sinus. The encephalocele was herniating through a bony defect of the posterior sinus wall. The encephalocele was ligated and resected followed by removing frontal sinus mucosa and complete cranialization of frontal sinus. Repair of the sinus floor was conducted with fat and pericranial grafts followed by CSF diversion via lumbar drain. Histopathology of the resected encephalocele showed a TSC tuber covered with respiratory (frontal sinus) mucosa. Tuber cells were diffusely positive for GFAP. The patient underwent follow-up for 2 years without evidence of recurrent meningitis or CSF rhinorrhea. This report demonstrates that frontal tubers of TSC can protrude into the frontal sinus as acquired encephaloceles and present with recurrent meningitis. To the authors' knowledge, recurrent meningitis is not known to coincide with TSC. Careful clinical and radiographic follow-up for frontal tubers in patients with TSC is

Temporal Lobe Encephalocele in the Lateral Recess of the Sphenoid Sinus Presenting with Intraventricular Tension Pneumocephalus

OpenAIRE

Ohkawa, Toshika; Nakao, Naoyuki; Uematsu, Yuji; Itakura, Toru

2010-01-01

A basal encephalocele often shows an insidious clinical course. Only two cases of temporal lobe encephalocele accompanied with tension pneumocephalus have previously been reported. In this paper, we describe a case of lateral sphenoid sinus encephalocele presenting with intraventricular tension pneumocephalus. A 54-year-old man was referred to our institution presenting with intraventricular tension pneumocephalus. He had undergone ventriculoperitoneal shunt placement for postmeningitis hydro...

Congenital nasal neuroglial heterotopia and encephaloceles: An update on current evaluation and management.

Science.gov (United States)

Adil, Eelam; Robson, Caroline; Perez-Atayde, Antonio; Heffernan, Colleen; Moritz, Ethan; Goumnerova, Liliana; Rahbar, Reza

2016-09-01

To describe our experience and current management approach for congenital nasal neuroglial heterotopia (NGH) and encephaloceles. Retrospective chart review at a tertiary pediatric hospital from 1970 to 2013. Thirty patients met inclusion criteria: 21 NGH and nine encephaloceles. Data including demographics, pathology, imaging modality, surgical approach, resection extent, outcomes, and complications were analyzed. Fourteen NGH patients (67%) presented with an internal nasal mass and nasal obstruction. Three patients (14%) presented with an external nasal mass and four (19%) had a mixed lesion. Median age at surgery was 0.51 years (interquartile range 1.32 years). Thirteen (62%) had an intranasal endoscopic approach. Median operative time was 1.6 hours (interquartile range 1.2 hours), and there were no major complications. Nine patients with encephalocele were identified: six (67%) presented with transethmoidal encephaloceles, two (22%) presented with nasoethmoidal encephaloceles, and one (11%) presented with a nasofrontal lesion. The median age at surgery was 1.25 years (interquartile range 1.4 years). All patients required a craniotomy for intracranial extension. Median operative time was 5 hours (interquartile range 1.9 hours), and eight patients (88%) had a total resection. Length of stay ranged from 3 to 14 days. Nasal neuroglial heterotopia and encephaloceles are very rare lesions that require multidisciplinary evaluation and management. At our institution, there has been a shift to magnetic resonance imaging alone for the evaluation of NGH to avoid radiation exposure. Endoscopic extracranial resection is feasible for most intranasal and mixed NGH without an increase in operative time, residual disease, or complications. 4. Laryngoscope, 126:2161-2167, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

Intrasphenoidal encephalocele and spontaneous CSF rhinorrhoea.

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Daniilidis, J; Vlachtsis, K; Ferekidis, E; Dimitriadis, A

1999-12-01

Intrasphenoidal encephalocele is a rare clinical entity. In the international literature only 16 cases have been reported up today, with female predominance. Clinically they manifest at middle and advanced ages (40-67 years), when spontaneous CSF rhinorrhoea or recurrent meningitis occurs. We present our case, a 46 years old female, who had CSF rhinorrhoea from the right vestibule for 10 months. The diagnosis was based on the history and the high-resolution brain and skull base CT-scanning in conjunction with opaque fluid injection in the subarachnoidal space through a lumbar puncture. She was successfully treated with an operation, through an endonasal trans-ethmoid microendoscopic approach, using the Draf and Stammberger technique. We discuss the pathogenesis of the intrasphenoidal encephalocele, the existence of small occult defects in the skull base, which cause, at the middle and advanced ages, CSF fistula with spontaneous CSF rhinorrhoea and/or recurrent meningitis. Finally we emphasize the advantages of the endonasal surgical approach for the treatment of this condition.

prenatal ultrasound diagnosis of discordant occipital encephalocele

African Journals Online (AJOL)

drclement

PRENATAL ULTRASOUND DIAGNOSIS OF DISCORDANT OCCIPITAL. ENCEPHALOCELE IN MULTIPLE PREGNANCY - A CASE REPORT. *O.U Ogbeide (MBBS, FMCR), *EJ IKUBOR (MBBS). *Department of Radiology University of Benin Teaching Hospital, Benin-City, Nigeria. Correspondence: Dr Ogbeide Osesogie ...

[Surgery for intractable epilepsy in a patient with encephalocele of the temporal lobe: a case report].

Science.gov (United States)

Semenov, M S; Belyakova-Bodina, A I; Murtazina, A F; Brutyan, A G; Golovteev, A L; Aziatskaya, G A; Samoylov, A S; Zabelin, M V; Udalov, Yu D

We describe a case of surgical treatment of intractable temporal epilepsy in a female patient with congenital middle cranial fossa encephalocele. We present clinical-anamnestic and neuroimaging data as well as the microscopic and macroscopic pictures of encephalocele. We analyze outcomes of surgery for this pathology, which have been reported in the literature. To date, there have been a few articles on this subject in the domestic literature. The development of neuroimaging techniques and a growing number of verified encephalocele cases promote the widespread use of surgery for treatment of intractable epilepsy. Congenital encephalocele should be considered in the differential diagnosis of intractable temporal epilepsy, and, if verified, surgical treatment is the method of choice in most cases.

Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele

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Mehdi Kehila

2015-01-01

Full Text Available Context. Fetal sincipital encephalocele is one of the most serious congenital neural tube defects with a high risk of mortality and neonatal morbidity. Prenatal diagnosis of this malformation is important in fetal medicine. Case Report. We report a case of prenatal diagnosis of sincipital encephalocele using ultrasound and MRI imaging. The diagnosis was done at 25 weeks of gestation by identifying an anterior cephalic protrusion through a defect in the skull. Conclusion. Through this case, we discuss the differential diagnosis, management, and prognosis of such lesions.

Large Sphenoethmoidal Encephalocele Associated with Agenesis of Corpus Callosum and Cleft Palate

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Basir Hashemi

2010-06-01

Full Text Available AbstractBasal encephalocele is a rare craniofacial anomaly. In the presentpaper we report a 10-year-old boy presented with cleftpalate, congenital nystagmus, and hypertelorism. During preoperativeevaluation for cleft palate repair, a pulsatile masswas detected in the pharynx. Magnetic resonance imagingshowed sphenoethmoidal type of basal encephalocele andagenesis of corpus callosum. Neurosurgical consultation wasperformed for further evaluation and management.Iran J Med Sci 2010; 35(2: 154-156.

Frontoethmoidal encephaloceles, a study of their pathogenesis

NARCIS (Netherlands)

Hoving, Eelco; Vermeij-Keers, C

1997-01-01

A prospective clinical study of 30 patients with frontoethmoidal encephaloceles was performed in order to find support for a proposed theory concerning its pathogenesis, based on a previously performed embryological study and relevant findings in the literature. According to this proposed theory the

Coexistence of giant cell fibroblastoma and encephalocele.

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Afroz, Nishat; Shamim, Nida; Jain, Anshu; Soni, Mayank

2014-04-11

Giant cell fibroblastoma (GCF) is a rare soft tissue tumour that occurs almost exclusively in children younger than 10 years of age and is mostly located in the superficial soft tissues of the back and thighs. We present a rare case of GCF with encephalocele in a 1.5-year-old boy who presented with a swelling in the occipital area of the scalp since birth. CT scan suggested encephalocele without any suspicion of a mass lesion. On histopathology, an ill-defined proliferation of fibroblasts in a heavily collagenised and focally myxoid stroma was seen containing numerous multinucleated cells having a floret-like appearance along with mature glial tissue bordering a cystic space. Immunohistochemically, the stromal cells were positive for both, vimentin (diffuse) and CD34 (focal) thereby confirming the histological diagnosis of GCF. This case highlights the unusual coexistence of GCF with congenital defects and its histogenetic resemblance to dermatofibrosarcoma protuberans.

Epilepsy Surgery for Skull-Base Temporal Lobe Encephaloceles: Should We Spare the Hippocampus from Resection?

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Bannout, Firas; Harder, Sheri; Lee, Michael; Zouros, Alexander; Raghavan, Ravi; Fogel, Travis; De Los Reyes, Kenneth; Losey, Travis

2018-01-01

The neurosurgical treatment of skull base temporal encephalocele for patients with epilepsy is variable. We describe two adult cases of temporal lobe epilepsy (TLE) with spheno-temporal encephalocele, currently seizure-free for more than two years after anterior temporal lobectomy (ATL) and lesionectomy sparing the hippocampus without long-term intracranial electroencephalogram (EEG) monitoring. Encephaloceles were detected by magnetic resonance imaging (MRI) and confirmed by maxillofacial head computed tomography (CT) scans. Seizures were captured by scalp video-EEG recording. One case underwent intraoperative electrocorticography (ECoG) with pathology demonstrating neuronal heterotopia. We propose that in some patients with skull base temporal encephaloceles, minimal surgical resection of herniated and adjacent temporal cortex (lesionectomy) is sufficient to render seizure freedom. In future cases, where an associated malformation of cortical development is suspected, newer techniques such as minimally invasive EEG monitoring with stereotactic-depth EEG electrodes should be considered to tailor the surrounding margins of the resected epileptogenic zone. PMID:29534521

Epilepsy Surgery for Skull-Base Temporal Lobe Encephaloceles: Should We Spare the Hippocampus from Resection?

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Firas Bannout

2018-03-01

Full Text Available The neurosurgical treatment of skull base temporal encephalocele for patients with epilepsy is variable. We describe two adult cases of temporal lobe epilepsy (TLE with spheno-temporal encephalocele, currently seizure-free for more than two years after anterior temporal lobectomy (ATL and lesionectomy sparing the hippocampus without long-term intracranial electroencephalogram (EEG monitoring. Encephaloceles were detected by magnetic resonance imaging (MRI and confirmed by maxillofacial head computed tomography (CT scans. Seizures were captured by scalp video-EEG recording. One case underwent intraoperative electrocorticography (ECoG with pathology demonstrating neuronal heterotopia. We propose that in some patients with skull base temporal encephaloceles, minimal surgical resection of herniated and adjacent temporal cortex (lesionectomy is sufficient to render seizure freedom. In future cases, where an associated malformation of cortical development is suspected, newer techniques such as minimally invasive EEG monitoring with stereotactic-depth EEG electrodes should be considered to tailor the surrounding margins of the resected epileptogenic zone.

SPHENOID SINUS (SS ANTERIOR MEDIAL TEMPORAL LOBE ENCEPHALOCELE (AMTLE WITH SPONTANEOUS CSF RHINORRHOEA : A CASE REPORT

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Laveena

2015-09-01

Full Text Available Cranial encephaloceles are the herniation of intracranial meninges and brain tissue through a defect in the cranium or skull base. These are rare conditions with an incidence of approximately 1 in 35,000 people, and are more common in the anterior cranial fossa than those in the middle one . 1,2 Temporal lobe herniation through a mid dle fossa defect into the lateral recess of the Sphenoid Sinus is even rarer than its medial representation. Intrasphenoidal encephaloceles are extremely rare findings 3 . Spontaneous, or primary, CSF fistula is a separate entity with no underlying cause of the CSF leak. Spontaneous CSF leaks are usually associated with a co - existing encephalocele of variable size 4 . We present a case of spontaneous CSF rhinorrhoea in a sphenoid sinus Anterior Medial Temporal lobe encephalocele herniating through a clinically silent lateral Craniopharyngeal canal.

Secondary pediatric encephalocele after ventriculosubgaleal shunting for posthemorrhagic hydrocephalus.

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Seeburg, Daniel; Ahn, Edward; Huisman, Thierry

2014-08-01

Intraventricular hemorrhage and posthemorrhagic hydrocephalus continue to be common complications in very low-birth-weight premature infants, often requiring ventricular shunting for cerebrospinal fluid diversion. We report on two infants with posthemorrhagic hydrocephalus that developed a secondary encephalocele after ventriculosubgaleal shunting. Encephaloceles can act as a source of seizure activity and can result in various additional complications including meningitis, abscess formation, and infarction of herniated brain parenchyma. With continued improvements in neonatal intensive care, the survival of infants with significant medical comorbidities-including those that develop posthemorrhagic hydrocephalus requiring ventricular shunting-continues to increase. It is thus important for the radiologist and treating physician to be aware of this rare, potential complication. Georg Thieme Verlag KG Stuttgart · New York.

The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital--a three year experience.

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Amadi, C E; Eghwrudjakpor, P O

2013-01-01

Encephalocele is a congenital anomaly that results from failure of complete neural tube closure during foetal development. It is a known cause of mortality and morbidity in infants. This study was carried out to highlight its distribution pattern in University of Port Harcourt Teaching Hospital over a three-year-period. This is a retrospective study of children with encephalocele admitted from January 2007 to December 2009. The following information were obtained from their medical records: sex, age at diagnosis, distribution pattern, place of origin, detailed antenatal history, maternal occupation/level of education, family history, associated anomalies and outcome of surgery. 17 cases (10 females and 7 males) were seen over this period. 12 presented as frontal encephalocele while 5 were occipital. Their ages at diagnosis were: prenatal (determinded by abdominal ultrasound) 5, 0-6 months 11, and 7-12 months 1. 9 of 17 mothers were unbooked. Pregnancy was uneventful in all cases. None had family history of encephalocele. 5 had multiple anomalies while 12 had only encephalocele. 10 patients had surgery, of which 9 were successful. 1 died in the immediate postoperative period. 7 patients did not have surgery. Among these, 3 died before surgery while the parents of 4 children refused operation. 10 mothers had primary education, 5 secondary, while 2 had attained tertiary education. Encephalocele may be frontal or occipital. The distribution pattern of our cases was in favour of frontal location, with slight female preponderance.

Endoscopic treatment of trans-sellar trans-sphenoidal encephalocele associated with morning glory syndrome presenting with non-traumatic cerebrospinal fluid rhinorrhea.

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Sasani, M; Ozer, A F; Aydin, A L

2009-03-01

Basal encephaloceles are rare, accounting for about 1.5% of all encephaloceles. The trans-sellar trans-sphenoidal encephalocele variety is the rarest. Morning glory syndrome is often associated with basal encephalocele. Spontaneous cerebrospinal fluid (CSF) rhinorrheas are the least common of these, accounting for only 3% to 5% of all CSF rhinorrheas. The authors describe the outcome of a 10-year follow-up study of a 26-year-old male patient with a spontaneous CSF rhinorrhea occurring trans-sphenoidal encephalocele associated with bilateral morning glory syndrome that was treated with an endoscopic endonasal approach. Endoscopic exploration of the sella floor was performed and closed with abdomen fat packing and muscle fascia. The postoperative course was uneventful. A follow-up magnetic resonance (MR) image at 6 months postoperatively showed extension of encephalocele in the sphenoidal sinus, which was repaired. The patient had no further CSF rhinorrhea and showed no ophthalmologic changes over a follow-up period of over 10 years. Ophthalmologic findings such as strabismus, in association with anomalies of the optic nerve, should alert the physician to the possible presence of an unrecognized skull base midline defect and encephalocele before CSF leakage is seen. The authors believe that a surgeon who has equal confidence in performing the endoscopic endonasal and conventional microscopic trans-sphenoidal approaches should choose the less invasive surgery.

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

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Saglam, Dilek; Bilgici, Meltem Ceyhan; Bekci, Tuemay [Ondokuz Mayis University, Department of Radiology, School of Medicine, Kurupelit, Samsun (Turkey); Albayrak, Canan; Albayrak, Davut [Ondokuz Mayis University, Department of Pediatrics, School of Medicine, Kurupelit, Samsun (Turkey)

2017-05-15

Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated. (orig.)

A Retrospective Analysis of Neonatal Encephalocele Predisposing Factors and Outcomes.

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Yucetas, Seyho Cem; Uçler, Necati

2017-01-01

This study evaluates the predisposing factors and outcomes of surgical management of encephaloceles at our institution. A retrospective analysis of 32 occipital encephaloceles managed operatively at the Neurosurgery Department Clinics of the Faculty of Medicine, Adıyaman University, was performed between 2011 and 2015. Among the study population, 19 mothers had been exposed to TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus), 18 were in consanguineous marriages, and 3 had regular prenatal screening. Associated congenital anomalies were common. Eight infants required reoperation, and 9 died during follow-up. The study identified key areas for prevention. Knowledge of the intracranial and associated anomalies can guide management. © 2016 S. Karger AG, Basel.

Autosomal recessive osteopetrosis with a unique imaging finding: multiple encephaloceles

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Saglam, Dilek; Bilgici, Meltem Ceyhan; Bekci, Tuemay; Albayrak, Canan; Albayrak, Davut

2017-01-01

Osteopetrosis is a hereditary form of sclerosing bone dysplasia with various radiological and clinical presentations. The autosomal recessive type, also known as malignant osteopetrosis, is the most severe type, with the early onset of manifestations. A 5-month-old infant was admitted to our hospital with recurrent respiratory tract infections. Chest X-ray and skeletal survey revealed the classic findings of osteopetrosis, including diffuse osteosclerosis and bone within a bone appearance. At follow-up, the patient presented with, thickened calvarium, multiple prominent encephaloceles, and dural calcifications leading to the intracranial clinical manifestations with bilateral hearing and sight loss. Autosomal recessive osteopetrosis is one of the causes of encephaloceles and this finding may become dramatic if untreated. (orig.)

Basal encephalocele in an adult patient presenting with minor anomalies: a case report

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2014-01-01

Introduction Basal encephalocele is rare in adults. Congenital and acquired cases have been reported with regard to the developmental mechanism, and the pathology has not been elucidated in detail. Case presentation We encountered an adult with basal encephalocele strongly suggesting congenital development because of the presence of minor anomalies: strabismus and ocular hypertelorism. The disease manifested as persistent spontaneous cerebrospinal fluid rhinorrhea and repeated meningitis in a 66-year-old Japanese man. On computed tomography, brain tissue protruded through a part of the ethmoid bone of his right anterior skull base, and it was diagnosed as transethmoidal-type basal encephalocele. Regarding his facial form, the distance between his bilateral eyeballs was large compared to his facial width, and his canthal index (defined as inner to outer inter canthal ratio × 100) was calculated as 38.5, based on which it was judged as ocular hypertelorism. In addition, his right eyeball showed strabismus. A right frontotemporal craniotomy was performed for spontaneous cerebrospinal fluid rhinorrhea, and the defective dura mater region was patched with temporal fascia. Conclusions Mild minor anomalies that require no treatment are overlooked in adults, but the presence of several anomalies increases the possibility of congenital disease. Therefore, it may be necessary to examine minor anomalies in cases of adult basal encephalocele when considering the possibility that the disease may be congenital. PMID:24468320

Otitic meningitis, superior semicircular canal dehiscence, and encephalocele: a case series.

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Lim, Zixiang Michael; Friedland, Peter Leon; Boeddinghaus, Rudolf; Thompson, Andrew; Rodrigues, Stephen John; Atlas, Marcus

2012-06-01

Otitic meningitis in the postantibiotic era is still a serious condition, requiring intensive treatment and prolonged rehabilitation. In view of the significant morbidity and mortality rate, conditions that may increase the likelihood of otitic meningitis developing should be treated promptly. The incidence of meningitis after asymptomatic encephaloceles of the middle cranial fossa varies greatly, and the management differs between elective surgical repair and expectant careful observation. Superior semicircular canal dehiscences (SSCDs) are postulated to have a congenital origin and are associated with a thin or dehiscent tegmen. Several cases of simultaneous SCCD and tegmen defects have been reported, but the findings of otitic meningitis, SCCD, and encephaloceles has, to the best of our knowledge, not been previously explored in the literature. We reviewed a series of 4 patients who all presented with a combination of otitic meningitis, encephaloceles, and SSCD. All the 4 patients we reviewed had meningitis secondary to otitis media with computed tomographic scans confirming the presence of SCCD with ipsilateral tegmen tympani defects and associated cephaloceles. All patients were treated with intravenous antibiotics and underwent surgery that ranged from myringotomy and ventilation tube insertions, mastoidectomy, and burr hole drainage for temporal lobe abscess. They were all associated with intensive care unit admission, significant morbidity, and prolonged hospital stays. There were no mortalities. We propose that in all SSCD patients, a careful computed tomographic examination of the cranial base should be undertaken to exclude other associated tegmen tympani defects. In cases of SSCD requiring surgery, we support the view that elective surgical repair be recommended where asymptomatic ipsilateral encephaloceles are found, to reduce the risk of otitic meningitis.

A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus

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Franco, Arie; Jo, Stephanie Y; Mehta, Amar S; Pandya, Dave J; Yang, Carina W

2016-01-01

Giant encephalocele is an uncommon congenital anomaly with very few published reports available in the English literature. Tetralogy of Fallot associated with situs inversus is also infrequently reported. To our knowledge there are no published reports of an association between giant encephalocele and Tetralogy of Fallot. The additional finding of situs inversus results in a rare pathologic triad, not heretofore described. PMID:27200165

A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus.

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Franco, Arie; Jo, Stephanie Y; Mehta, Amar S; Pandya, Dave J; Yang, Carina W

2016-03-01

Giant encephalocele is an uncommon congenital anomaly with very few published reports available in the English literature. Tetralogy of Fallot associated with situs inversus is also infrequently reported. To our knowledge there are no published reports of an association between giant encephalocele and Tetralogy of Fallot. The additional finding of situs inversus results in a rare pathologic triad, not heretofore described.

[Clinical analysis of acute encephalocele during operation in 21 patients with severe craniocerebral injury].

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Zhuang, Qiang; Qu, Chun-cheng; Liang, Wen-zhi; Qin, Hao; Yu, Rui

2011-03-08

To analyze the clinical features of acute intra-operative encephalocele and the proper prophylactic-therapeutic measures for severe craniocerebral injury. The clinical data were collected and analyzed for 21 patients with severe head injuries who suffered acute intra-operative encephalocele from June 2008 to May 2010. There were 12 males and 9 females with an age range of 18 - 69 years old. Among these patients, 6 died with a mortality rate of 28.5%. It was lower than that reported in literatures. One patient died post-operatively of severe brain swelling and intracranial infection secondary to leakage of cerebrospinal fluid. Four patients died of severe craniocerebral injury, brain swelling and brain stem failure. And 1 patient died after his guardian abandoned the treatment. The follow-up period for the remaining 15 surviving patients was 3 - 6 months. According to the Glasgow outcome score (GOS), there were a favorable prognosis (n = 9), moderate disabilities (n = 5) and severe disability (n = 1). The probability of acute intra-operative encephalocele may be predicted in advance with a combination of clinical features and computed tomographic scans. The therapeutic success rate of acute encephalocele will be boosted by taking protective and therapeutic measures pre- and intra-operatively.

Airway management for occipital encephalocele in neonatal patients: A review of 17 cases

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Zeynep Baysal Yildirim

2011-01-01

Full Text Available Introduction: Encephalocele, midline defect of cranial bone fusion, occurs most frequently in the occipital region. Airway management in pediatric patients with craniofacial disorders poses many challenges to the anesthesiologist. The purpose of this study is to describe the airway problems encountered for such cases, and describe how these problems were managed. Materials and Methods: We reviewed the charts of occipital encephalocele newborn that were treated by surgical correction in Harran University Hospital during 2006-2008. The collected data were categorized into preoperative, intraoperative, and postoperative data. Results: The mean age of the patients was 5.17 days. Of these 17 patients, eight patients (47.1% had hydrocephaly, one patient (5.8% with Dandy Walker syndrome. Micrognathia, macroglossia, restriction in neck movements were recorded as the reasons in six cases each. No major anesthetic complication was found. Conclusions: We reported perioperative management in 17 occipital encephalocele infant. Comprehensive care during peroperative period is essential for successful outcome.

Repair of Frontoethmoidal Encephalocele in the Philippines: An Account of 30 Cases Between 2008-2013.

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Marshall, Amanda-Lynn; Setty, Pradeep; Hnatiuk, Mark; Pieper, Daniel R

2017-07-01

Frontoethmoidal encephalocele is a congenital abnormality of the anterior skull base involving herniation of cranial contents through a midline skull defect. Patency of the foramen cecum, along with other multifactorial variables, contributes to the development of frontoethmoidal encephaloceles. Because of limited resources, financial constraints, and lack of surgical expertise, repair of frontoethmoidal encephaloceles is limited in developing countries. Between 2008 and 2013 an interdisciplinary team composed of neurosurgeons, craniofacial surgeons, otolaryngologists, plastic surgeons, and nursing personnel, conducted surgical mission trips to Davao City in Mindanao, Philippines. All patients underwent a combined extracranial/intracranial surgical approach, performed in tandem by a neurosurgeon and a craniofacial surgeon, to detach and remove the encephalocele. This procedure was followed by reconstruction of the craniofacial defects. A total of 30 cases of frontoethmoidal encephalocele were repaired between 2008 and 2013 (20 male; 10 female). The average age at operation was 8.7 years, with 7 patients older than 17 years. Of the 3 subtypes, the following breakdown was observed in patients: 18 nasoethmoidal; 9 nasofrontal; and 3 naso-orbital. Several patients showed concurrent including enlarged ventricles, arachnoid cysts (both unilateral and bilateral), and gliotic changes, as well as orbit and bulbus oculi (globe) deformities. There were no operative-associated mortalities or neurologic deficits, infections, or hydrocephalus on follow-up during subsequent trips. Despite the limitations of performing advanced surgery in a developing country, the combined interdisciplinary surgical approach has offered effective treatment to improve physical appearance and psychological well-being in afflicted patients. Copyright © 2017 Elsevier Inc. All rights reserved.

Mature teratoma in association with neural tube defect (occipital encephalocele): series of four cases and review of the literature.

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Goyal, Nishant; Singh, Pankaj Kumar; Kakkar, Aanchal; Sharma, Meher Chand; Mahapatra, Ashok Kumar

2012-01-01

Both occipital encephalocele and teratomas are midline congenital malformations. Encephalocele is a form of neural tube defect in which there is a congenital defect of the cranium through which occurs a protrusion of brain matter or meninges, while teratoma is a tumor derived from all three germ layers. The association between occipital encephalocele and teratoma has not been reported to date. In the present study, the authors present a series of four such cases. Copyright © 2012 S. Karger AG, Basel.

Combined supra-transorbital keyhole approach for treatment of delayed intraorbital encephalocele: A minimally invasive approach for an unusual complication of decompressive craniectomy

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di Somma, Lucia; Iacoangeli, Maurizio; Nasi, Davide; Balercia, Paolo; Lupi, Ettore; Girotto, Riccardo; Polonara, Gabriele; Scerrati, Massimo

2016-01-01

Background: Intraorbital encephalocele is a rare entity characterized by the herniation of cerebral tissue inside the orbital cavity through a defect of the orbital roof. In patients who have experienced head trauma, intraorbital encephalocele is usually secondary to orbital roof fracture. Case Description: We describe here a case of a patient who presented an intraorbital encephalocele 2 years after severe traumatic brain injury, treated by decompressive craniectomy and subsequent autologous cranioplasty, without any evidence of orbital roof fracture. The encephalocele removal and the subsequent orbital roof reconstruction were performed by using a modification of the supraorbital keyhole approach, in which we combine an orbital osteotomy with a supraorbital minicraniotomy to facilitate view and access to both the anterior cranial fossa and orbital compartment and to preserve the already osseointegrated autologous cranioplasty. Conclusions: The peculiarities of this case are the orbital encephalocele without an orbital roof traumatic fracture, and the combined minimally invasive approach used to fix both the encephalocele and the orbital roof defect. Delayed intraorbital encephalocele is probably a complication related to an unintentional opening of the orbit during decompressive craniectomy through which the brain herniated following the restoration of physiological intracranial pressure gradients after the bone flap repositioning. The reconstruction of the orbital roof was performed by using a combined supra-transorbital minimally invasive approach aiming at achieving adequate surgical exposure while preserving the autologous cranioplasty, already osteointegrated. To the best of our knowledge, this approach has not been previously used to address intraorbital encephalocele. PMID:26862452

Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex

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Gabriella D’Angelo

2017-01-01

Full Text Available Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term “expanded Goldenhar complex” has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum. These additional particular cases could increase the number of new variable spectrums to be included in the “expanded Goldenhar complex.”

Dural sinus filling defect: intrasigmoid encephalocele

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Karatag, Ozan; Cosar, Murat; Kizildag, Betul; Sen, Halil Murat

2013-01-01

Filling defects of dural venous sinuses are considered to be a challenging problem especially in case of symptomatic patients. Many lesions have to be ruled out such as sinus thrombosis, arachnoid granulations and tumours. Encephalocele into dural sinus is also a rare cause of these filling defects of dural sinuses. Here, we report an extremely rare case with spontaneous occult invagination of temporal brain tissue into the left sigmoid sinus and accompanying cerebellar ectopia. PMID:24311424

Iatrogenic encephalocele : a rare complication of vacuum extraction delivery

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Jeltema, Hanne-Rinck; Hoving, Eelco

2011-01-01

Vacuum extraction is a frequently used form of assisted vaginal delivery. Here we describe a child who was born by vacuum extraction delivery. Days after the birth, a frontal swelling, which was thought to be a caput succedaneum, enlarged. Imaging revealed an iatrogenic encephalocele with a large

Arachnoid Pit and Extensive Sinus Pnematization as the Cause of Spontaneous Lateral Intrasphenoidal Encephalocele

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Ali AlMontasheri

2012-01-01

Full Text Available Lateral sphenoid encephalocele, especially within the lateral aspect of the sphenoid sinus, when the sphenoid sinus has pneumatized extensively into the pterygoid recess, are considered exceedingly rare. We report a rare case of lateral intrasphenoidal encephalocele with spontaneous cerebral spinal fluid (CSF rhinorrhea. Computed tomography demonstrated bilateral arachnoid pit, extensive sphenoid sinus pneumatization, and a defect in the superior wall of the left lateral recess of the sphenoid sinus. Magnetic resonance imaging demonstrated anteromedial temporal lobe herniating through the bony defect.

Assessing the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005-2010: implications for a neural tube defects surveillance system.

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Githuku, Jane N; Azofeifa, Alejandro; Valencia, Diana; Ao, Trong; Hamner, Heather; Amwayi, Samuel; Gura, Zeinab; Omolo, Jared; Albright, Leland; Guo, Jing; Arvelo, Wences

2014-01-01

Neural tube defects such as anencephaly, spina bifida, and encephalocele are congenital anomalies of the central nervous system. Data on the prevalence of neural tube defects in Kenya are limited. This study characterizes and estimates the prevalence of spina bifida and encephalocele reported in a referral hospital in Kenya from 2005-2010. Cases were defined as a diagnosis of spina bifida or encephalocele. Prevalence was calculated as the number of cases by year and province of residence divided by the total number of live-births per province. From a total of 6,041 surgical records; 1,184 (93%) had reported diagnosis of spina bifida and 88 (7%) of encephalocele. Estimated prevalence of spina bifida and encephalocele from 2005-2010 was 3.3 [95% Confidence Interval (CI): 3.1-3.5] cases per 10,000 live-births. The highest prevalence of cases were reported in 2007 with 4.4 (95% CI: 3.9-5.0) cases per 10,000 live-births. Rift Valley province had the highest prevalence of spina bifida and encephalocele at 6.9 (95% CI: 6.3-7.5) cases per 10,000 live-births from 2005-2010. Prevalence of spina bifida and encephalocele is likely underestimated, as only patients seeking care at the hospital were included. Variations in regional prevalence could be due to referral patterns and healthcare access. Implementation of a neural tube defects surveillance system would provide a more thorough assessment of the burden of neural tube defects in Kenya.

Progressive skin necrosis of a huge occipital encephalocele

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Andarabi, Yasir; Nejat, Farideh; El-Khashab, Mostafa

2008-01-01

Objects: Progressive skin necrosis of giant occipital encephalocoele is an extremely rare complication found in neonates. Infection and ulceration of the necrosed skin may lead to meningitis or sepsis. We present here a neonate with giant occipital encephalocoele showing progressive necrosis during the first day of his life. Methods: A newborn baby was found to have a huge mass in the occipital region, which was covered by normal pink-purplish skin. During the last hours of the first day of his life, the sac started becoming ulcerated accompanied with a rapid color change in the skin, gradually turning darker and then black. The neonate was taken up for urgent excision and repair of the encephalocele. Two years after the operation, he appears to be well-developed without any neurological problems. Conclusion: Necrosis may have resulted from arterial or venous compromise caused by torsion of the pedicle during delivery or after birth. The high pressure inside the sac associated with the thin skin of the encephalocoele may be another predisposing factor. In view of the risk of ulceration and subsequent infection, urgent surgery of the necrotizing encephalocele is suggested. PMID:19753210

Progressive skin necrosis of a huge occipital encephalocele

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Andarabi Yasir

2008-01-01

Full Text Available Objects: Progressive skin necrosis of giant occipital encephalocoele is an extremely rare complication found in neonates. Infection and ulceration of the necrosed skin may lead to meningitis or sepsis. We present here a neonate with giant occipital encephalocoele showing progressive necrosis during the first day of his life. Methods: A newborn baby was found to have a huge mass in the occipital region, which was covered by normal pink-purplish skin. During the last hours of the first day of his life, the sac started becoming ulcerated accompanied with a rapid color change in the skin, gradually turning darker and then black. The neonate was taken up for urgent excision and repair of the encephalocele. Two years after the operation, he appears to be well-developed without any neurological problems. Conclusion: Necrosis may have resulted from arterial or venous compromise caused by torsion of the pedicle during delivery or after birth. The high pressure inside the sac associated with the thin skin of the encephalocoele may be another predisposing factor. In view of the risk of ulceration and subsequent infection, urgent surgery of the necrotizing encephalocele is suggested.

Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach.

Science.gov (United States)

Starnoni, Daniele; Daniel, Roy Thomas; George, Mercy; Messerer, Mahmoud

2017-01-01

Spontaneous meningoencephaloceles of the lateral sphenoid sinus are rare entities, and their peculiar location represents a surgical challenge due to the importance of a wide exposure and skull base reconstruction. They are thought to arise from the congenital base defect of the lateral sphenoid or in some cases have been postulated to represent a rare manifestation of altered cerebrospinal fluid (CSF) dynamics. We report the first case in the literature of a Chiari malformation type I (CMI) and a lateral sphenoid encephalocele, revising the theoretic etiology and surgical technique of endoscopic repair. A 50-year-old woman with a surgical history of symptomatic CMI presented with episodes of spontaneous CSF rhinorrhea. Radiologic investigations revealed a left mesial temporal encephalocele herniating into the lateral recess of the sphenoid sinus and radiologic features of altered CSF dynamics, which may have played an etiologic role. An endoscopic transpterygoid excision of the encephalocele and multilayer skull base repair were performed. The association of spontaneous lateral sphenoid encephaloceles with CMI is distinctly unusual. Predisposing factors and disruption of CSF dynamics may play a major role in the development of these rare complications in patients with CMI. Because of their distinct location, transethmoid or transpterygoid endoscopic approaches represent an excellent surgical technique to treat these lesions thanks to their wide and direct visualization of the entire skull base defect following the encephalocele excision, allowing an adequate multilayer repair and lateral sphenoid recess occlusion. Copyright © 2016 Elsevier Inc. All rights reserved.

Case Report: Anteromedial temporosphenoidal encephalocele with a clinically silent lateral bony defect in the greater wing of the sphenoid

International Nuclear Information System (INIS)

Pandey, Anoop Kumar

2009-01-01

Anteromedial temporosphenoidal encephalocele is the least common type of temporal encephalocele. It commonly presents with spontaneous cerebrospinal fluid rhinorrhea in adults. This article presents the CT cisternography and MRI findings of one such case, which also had an associated clinically silent defect in the greater wing of the sphenoid on the same side

Congenital orbital encephalocele, orbital dystopia, and exophthalmos.

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Hwang, Kun; Kim, Han Joon

2012-07-01

We present here an exceedingly rare variant of a nonmidline basal encephalocele of the spheno-orbital type, and this was accompanied with orbital dystopia in a 56-year-old man. On examination, his left eye was located more inferolaterally than his right eye, and the patient said this had been this way since his birth. The protrusion of his left eye was aggravated when he is tired. His naked visual acuity was 0.7/0.3, and the ocular pressure was 14/12 mm Hg. The exophthalmometry was 10/14 to 16 mm. His eyeball motion was not restricted, yet diplopia was present in all directions. The distance from the midline to the medial canthus was 20/15 mm. The distance from the midline to the midpupillary line was 35/22 mm. The vertical dimension of the palpebral fissure was 12/9 mm. The height difference of the upper eyelid margin was 11 mm, and the height difference of the lower eyelid margin was 8 mm. Facial computed tomography and magnetic resonance imaging showed left sphenoid wing hypoplasia and herniation of the left anterior temporal pole and dura mater into the orbit, and this resulted into left exophthalmos and encephalomalacia in the left anterior temporal pole. To the best of our knowledge, our case is the second case of basal encephalocele and orbital dystopia.

Case Report: Anteromedial temporosphenoidal encephalocele with a clinically silent lateral bony defect in the greater wing of the sphenoid

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Pandey Anoop

2009-01-01

Full Text Available Anteromedial temporosphenoidal encephalocele is the least common type of temporal encephalocele. It commonly presents with spontaneous cerebrospinal fluid rhinorrhea in adults. This article presents the CT cisternography and MRI findings of one such case, which also had an associated clinically silent defect in the greater wing of the sphenoid on the same side.

Prenatal Diagnosis of Tectocerebellar Dysraphia with Occipital Encephalocele

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Sanhal, Cem Y; Tokmak, Aytekin; Müftüoglu, Kamil H; Danisman, Nuri

2015-01-01

Tectocerebellar dysraphia (TCD) is an extremely rare disorder and comprises the congenital abnormalities including occipital encephalocele, aplasia and/or hypoplasia of cerebellar vermis and deformity of tectum. Only few reported cases of this entity are there in the literature. However, the diagnosis in each of the previous cases had been made after birth. We herein describe the first reported case of prenatal diagnosis for TCD in a Turkish woman. PMID:26816952

Parietal intradiploic encephalocele: Report of a case and review of the literature.

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Arevalo-Perez, Julio; Millán-Juncos, José M

2015-06-01

Encephaloceles consist of brain tissue and meninges that has herniated through a skull defect, usually located in the midline. They are seen more commonly in children and very rarely in adults. We present a case of an 84-year-old patient who was incidentally diagnosed with a lytic bone lesion in the right parietal intradiploic space, after computed tomography of the head was performed. A magnetic resonance imaging scan of the brain showed herniation of brain tissue through the defect. Magnetic resonance imaging was crucial in demonstrating the presence of parenchyma and its continuity with the rest of the brain, consequently distinguishing it from other entities. We report the imaging findings of a parietal indradiploic encephalocele with its differential diagnosis and a review of the relevant literature. © The Author(s) 2015.

Assessing the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005–2010: implications for a neural tube defects surveillance system

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Githuku, Jane N; Azofeifa, Alejandro; Valencia, Diana; Ao, Trong; Hamner, Heather; Amwayi, Samuel; Gura, Zeinab; Omolo, Jared; Albright, Leland; Guo, Jing; Arvelo, Wences

2014-01-01

Introduction Neural tube defects such as anencephaly, spina bifida, and encephalocele are congenital anomalies of the central nervous system. Data on the prevalence of neural tube defects in Kenya are limited. This study characterizes and estimates the prevalence of spina bifida and encephalocele reported in a referral hospital in Kenya from 2005-2010. Methods Cases were defined as a diagnosis of spina bifida or encephalocele. Prevalence was calculated as the number of cases by year and province of residence divided by the total number of live-births per province. Results From a total of 6,041 surgical records; 1,184 (93%) had reported diagnosis of spina bifida and 88 (7%) of encephalocele. Estimated prevalence of spina bifida and encephalocele from 2005-2010 was 3.3 [95% Confidence Interval (CI): 3.1-3.5] cases per 10,000 live-births. The highest prevalence of cases were reported in 2007 with 4.4 (95% CI: 3.9-5.0) cases per 10,000 live-births. Rift Valley province had the highest prevalence of spina bifida and encephalocele at 6.9 (95% CI: 6.3-7.5) cases per 10,000 live-births from 2005-2010. Conclusion Prevalence of spina bifida and encephalocele is likely underestimated, as only patients seeking care at the hospital were included. Variations in regional prevalence could be due to referral patterns and healthcare access. Implementation of a neural tube defects surveillance system would provide a more thorough assessment of the burden of neural tube defects in Kenya. PMID:26113894

The pattern of distribution of encephalocele in University of Port ...

African Journals Online (AJOL)

Abstract. BACKGROUND: Encephalocele is a congenital anomaly that results from failure of complete neural tube closure during foetal development. It is a known cause of mortality and morbidity in infants. This study was carried out to highlight its distribution pattern in University of Port Harcourt Teaching Hospital over a ...

Recurrent Meningitis with Upper Airway Obstruction in A Child: Frontonasal Encephalocele- A Case Report

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Kapoor, Rohit; Paul, Premila; Yadav, Rakesh

2014-01-01

Nasal encephalocele are rare congenital anomalies; these benign masses may be confused with nasal dermoids, hemangiomas, nasal gliomas and anterior skull base masses. These lesions have concomitant defects in the anterior cranial fossa thus this potential communication can cause recurrent episodes of meningitis and/or difficulty in breathing and cosmetic anomalies. We bring a case of a 6-year-old child who presented to the clinic with multiple episodes of meningitis which was associated with nasal discharge. The imaging studies and nasal fluid analysis confirmed it as cerebrospinal fluid; subsequently imaging findings concluded it as frontonasal encephalocele which was later resected and patient showed improvement. PMID:25302244

Association of abnormal metopic suture causing hypertelorism, interfrontal encephalocele with craniofacial cosmetic deformity associated with myelomeningocele: management literature review

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Calderon-Miranda Willem Guillermo

2017-06-01

Full Text Available Myelomeningocele may be associated with other neural and extraneural anomalies. Authors present association of metopic suture abnormality, an interfrontal encephalocele with widening of metopic suture and abnormal shape frontal bones in the forehead in those associated with hydrocephalus. Authors describes two neonates with interfrontal encephalocele, representing first series reporting in neonate. Management and pertinent literature is briefly discussed.

The ultrasonographic diagnosis of fetal encephalocele at 13th gestational week

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Šorak Marija

2010-01-01

Full Text Available Background. Encephalocele presents a rare anomaly of central nervous system, developed as a consequence of neural tube closing defect during early embrional development, and it is described by a baggy formation which prolaborates through the pores of the scull, filled with brain tissue, cerebrospinal liquor and entwined with meninges. According to literature search, until this day, the earliest it can be ultrasonically detected is the 13th gestation week, with the appliance of three-dimensional ultrasound. Case report. We presented 25 years old patient, ultrasonically diagnosed with occipital fetal encephalocela at the 13th gestation week. A gestation sack was located in the right uteral corn of the two-corned uterus with one cervix. The diagnosis was confirmed also by trippled value of alpha-fetoprotein in maternal serum: 75,98 IU/mL. Conclusion. Ultrasonic examination is the method of choice for prenatal detection of a fetal anomaly. It is possible to diagnose encephalocele if it prominates above the limits of the scull.

[Atypical etiology of rhinorrhea: spontaneous bilateral temporal encephalocele].

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Lorente Muñoz, Asís; Lisbona Alquézar, María Pilar; González Martínez, Luis; Sevil Navarro, Jorge; Llorente Arenas, Eva María

2012-01-01

Spontaneous herniation of brain parenchyma through a dural and osseous defect in the temporal bone is a rare entity and a bilateral form is even more infrequent. It usually presents as an intermittent but persistent otorrhea. Manifestation as nose cerebrospinal fluid (CSF) leak is very uncommon. Our objective is presenting this unusual case report of a spontaneous bilateral encephalocele with a bilateral tegmen tympani defect. Copyright © 2010 Elsevier España, S.L. All rights reserved.

Neuroanaesthetic and perioperative challenges in the management of giant encephaloceles

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V Bhatnagar

2013-01-01

Full Text Available There are complex issues involved in the surgical management of giant occipital encephaloceles, especially in neonates and young infants. Airway management can cause technical difficulties due to location of lesion, associated abnormalities and the position to be maintained during surgery. We present perioperative challenges we faced in the management of one such case.

Nasal endotracheal intubation in a premature infant with a nasal encephalocele.

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Bannister, C M; Kashab, M; Dagestani, H; Placzek, M

1993-01-01

After a difficult nasal intubation a premature infant leaked cerebrospinal fluid (CSF) from one nostril. After developing bacterial meningitis, the baby was referred for neurosurgical management of the CSF fistula. Transaxial computed tomograms demonstrated a nasal encephalocele, but coronal scans were needed to show the defect in the cribriform plate. Images PMID:8346963

Antenatal sonographic appearance of a large orbital encephalocele: a case report and differential diagnosis of orbital cystic mass.

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Ahmed, Ahmed; Noureldin, Rehab; Gendy, Mohamed; Sakr, Sharif; Abdel Naby, Mahmoud

2013-06-01

Orbital meningoceles and encephaloceles are rare extracranial extensions of the brain and meninges with or without direct communication between the central nervous system and the abnormal mass. We reported a rare case of large fetal orbital encephalocele; the diagnosis was suspected initially by prenatal ultrasound and confirmed by postnatal MRI and CT scans. The differential diagnosis of an intrauterine fetal cystic orbital mass includes orbital teratoma, epidermoid inclusion cysts, hemangioma or lymphangioma, congenital cystic eye, dacryocystocele, and orbital cephalocele. Copyright © 2012 Wiley Periodicals, Inc.

A prenatally diagnosed pentalogy of cantrell case with encephalocele: A rare variant

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Melih Atahan Güven

2009-06-01

Full Text Available AIM: The aim of this study is to present a prenatally diagnosed and postnatally confirmed Pentalogy of Cantrell case also with neural tube defect. CASE: Characteristic features of Cantrell Pentalogy are omphalocele due to the defect of anterior diaphragm and lower sternum, absence of pericardium and cardiac anomaly. We are presenting here a case with encephalocele and omphalocele containing the heart with atrioventricular septal defect detected during prenatal ultrasonography. There is no consanguinity and history of drug usage or toxin exposure during pregnancy. As these malformations cause a very low chance of survival, pregnancy was terminated after an informed consent. Postmortem genetic evaluation of the fetus confirmed the prenatal findings. CONCLUSION: It is easy to diagnose omphalocele during pregnancy but if it associates with heart anomalies, Cantrell Pentalogy must be remembered. Encephalocele and other types of neural tube defects very rarely associate with this disorder and there were fewer than 20 cases reported in the literature.

MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.

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Demir, N; Peker, E; Gülşen I; Kaba, S; Tuncer, O

2015-01-01

The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. In this paper, we present a female newborn at 39 weeks gestational age born to parents who are first degree cousins. Beside the facial dysmorphism and four main features of the MPPH syndrome, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, cleft palate, and multiple polyps in the tongue. The presence of occipital encephalocele, cleft palate, and polyps in the tongue in this patient was not reported previously in the literature.

Perioperative Management of Children With Giant Encephalocele: A Clinical Report of 29 Cases.

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Mahajan, Charu; Rath, Girija P; Bithal, Parmod K; Mahapatra, Ashok K

2017-07-01

Giant encephalocele, a rare entity, makes anesthesiologists wary of challenging anesthetic course. Apart from inherent challenges of pediatric anesthesia, the anesthesiologist has to deal with unusual positioning, difficult tracheal intubation, and associated anomalies during the perioperative course. Medical records of 29 children with giant encephalocele, who underwent excision and repair, during a period of 13 years, were retrospectively analyzed. Data pertaining to anesthetic management, perioperative complications, and outcome at discharge were reviewed. The average age at admission was 164 days. Hydrocephalus and delayed milestones were present in 19 (65.5%) and 7 (24.1%) children, respectively. Difficulty in tracheal intubation was encountered, in 15 (51.7%) children. Tracheal intubation was attempted with direct laryngoscopy, most often, in lateral position (24 [82.8%]). Intraoperative hemodynamic and respiratory complications were observed in 9 (31.0%) and 5 (17.2%) children, respectively. Intraoperative hypothermia was observed in 4 (13.8%) children. The average stay in the intensive care unit was 2.7 days and average hospital stay was 11.5 days. The condition at discharge remained same as the preoperative period in 24 children (82.7%), deteriorated in 2 (6.9%), and 3 children (10.3%) died. Management of children with giant encephalocele requires the updated knowledge on possible difficulties encountered during the perioperative period. They need specialized anesthetic care for dealing with difficult tracheal intubation, associated congenital anomalies, unusual positioning, electrolyte abnormalities, hypothermia, and cardiorespiratory disturbances. For securing the airway, we suggest the practice of direct laryngoscopy in lateral position after inhalational induction. Muscle relaxant should be administered only after visualization of the glottis.

Coexistence of dermal sinus tract, dermoid cyst, and encephalocele in a patient presenting with nasal cellulitis.

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Karandikar, Mahesh; Yellon, Robert F; Murdoch, Geoffrey; Greene, Stephanie

2013-01-01

Dermoid cysts, encephaloceles, and dermal sinus tracts represent abnormalities that develop during the process of embryogenesis. The elucidation of the precise timing of formation for these malformations has remained elusive at the molecular level of study. Yet, clinical experience has demonstrated that these malformations do not all occur in the same patient, suggesting a shared pathway that goes awry at distinct points for different patients, resulting in 1 of the 3 malformations. Herein the authors describe a case in which all 3 malformations were present in a single patient. This is the first description in the English literature of a sincipital encephalocele occurring with a dermoid cyst and a dermal sinus tract.

Ethmoidal encephalocele associated with cerebrospinal fluid fistula: indications and results of mini-invasive transnasal approach.

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Fraioli, Mario Francesco; Umana, Giuseppe Emanuele; Fiorucci, Giulia; Fraioli, Chiara

2014-03-01

Anterior skull base defects with encephalocele in adults are quite rare and can be a cause of spontaneous rhinoliquorrhea; however, cerebrospinal fluid (CSF) fistula can be not rarely misdiagnosed for several months or years. Five adult patients affected by ethmoidal encephalocele with CSF fistula were treated in our institute from 2006 through to 2011. Onset of clinical history was represented by rhinoliquorrhea, which was precociously recognized in only 1 patient; in the other 4, it was misdiagnosed for a period ranging from 11 months to 5 years. After clinical diagnosis of CSF fistula and after brain magnetic resonance imaging, ethmoidal encephalocele was evident in all patients; preoperative study was completed by spiral computed tomography scan, to clearly identify the skull base bone defect. All patients were operated on by transsphenoidal endonasal endoscope-assisted microsurgical approach through 1 nostril. The herniated brain was coagulated and removed, and reconstruction of cranial base was performed. Postoperative rhinoliquorrhea or other complications did not occur in any patient at short and late follow-up. All patients were discharged after a few days. Endonasal endoscope-assisted microsurgical approach was effective in exposing and repairing the ethmoidal bone defect; tridimensional vision and wide lateral and superior exposition of the operative field were possible in each patient, thanks to the use of microscope and angulated endoscope.

Mechanism and surgical management of transsellar transsphenoidal encephalocele.

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Yang, Zhijun; Wang, Zhenmin; Wang, Bo; Liu, Pinan

2015-12-01

We performed a retrospective study to assess the mechanisms and surgical strategies for transsellar transsphenoid encephalocele, a rare type of basal encephalocele. Its clinical presentations include multiple endocrine disturbances, visual deficits, cerebrospinal fluid rhinorrhea and dyspnea. However, little is known about the occurrence and optimal treatment of this disease. We retrospectively reviewed six patients who were treated in our hospital from October 2003 to September 2013; five male patients and one female, with an average age of 10 years (range: 2 - 28). We collected data on their general condition, medical history, clinical features, and outcomes. An endoscopic transsphenoidal approach was used for five patients, and one refused surgery. All patients had similar imaging findings, and their pituitary gland could not be seen on MRI. Five of the patients showed gradual disease progression. The clinical symptoms were endocrine disturbance (n=6), decreased visual acuity (n=5), dyspnea (n=3) and cerebrospinal fluid rhinorrhea (n=2). Three of the patients also had a cleft palate. Two patients suffered serious symptoms of fever, tachyarrhythmia, and electrolyte disturbance postoperatively. After a long follow-up period, the symptoms remained stable or improved in all patients postoperatively, but worsened in the patient who did not have a surgical intervention. No mortalities were recorded. This disease may result from pituitary dysplasia, and the symptoms develop as the patients grow. Surgical interventions can be helpful for symptom management, the optimal treatment being a transsphenoidal approach. Those patients with milder symptoms preoperatively have a better prognosis. Copyright © 2015 Elsevier Ltd. All rights reserved.

A novel technique in airway management of neonates with occipital encephalocele.

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Rangaswamy, N; Pramanik, A K

2014-11-01

Airway stabilization in neonates with occipital encephalocele (OE) is critical during surgery or if they develop hypoxic-respiratory failure. Endotracheal intubation can be challenging due to difficulty in positioning the head in a patient with large occipital mass. We describe a novel technique for positioning neonates with large OE using a commonly used hospital apparatus which facilitated appropriate positioning of the baby and successful endotracheal intubation with ease and no additional staff.

Interfrontal encephalocele: a rare feature of forehead in hydrocephalic myelomeningocele patients. Clinical feature, probable mechanisms, and management.

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Nejat, Farideh; Kamali, Shahab; El Khashab, Mostafa

2013-08-01

Myelomeningocele is a complex central nervous system malformation mostly associated with other neural and extraneural anomalies. A rare special feature of the forehead and skull was observed in myelomeningocele. Here, we present several patients with myelomeningocele, severe hydrocephalus, and interfrontal encephalocele accompanied by metopic suture widening and abnormally shaped frontal bones. Five children with this feature were enrolled in this series. The age, sex, location of myelomeningocele sac, neurological deficits, hydrocephalus and history of shunt surgery, and follow-up period were evaluated. Patients were aged from 1 to 12 months (mean, 6 months). All patients were male. Most sacs were located in lumbar and lumbosacral areas. Neurological deficits varying from only sphincter problem to paraplegia were found in all patients. Hydrocephalus was found in all children that needed a shunt procedure. Asymptomatic Chiari malformation, interfrontal encephalocele, and corpus callosum agenesis were evident in five, five, and three patients, respectively. Anterior fontanel anomalies known as interfrontal encephalocele associated with myelomeningocele have been reported before. The patients have an open metopic suture extending widely to the nasal radix producing hypertelorism accompanied by interfrontal herniation of frontal lobes. The associated hydrocephalus exaggerates the anomaly. Treatment of accompanying hydrocephalus is advised to decrease the severity of frontal lobe herniation. Some patients may need frontal bone reconstruction surgery to provide cosmetic correction at the place of the midline frontal bone defect.

Pontine encephalocele and abnormalities of the posterior fossa following transclival endoscopic endonasal surgery.

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Koutourousiou, Maria; Filho, Francisco Vaz Guimaraes; Costacou, Tina; Fernandez-Miranda, Juan C; Wang, Eric W; Snyderman, Carl H; Rothfus, William E; Gardner, Paul A

2014-08-01

Transclival endoscopic endonasal surgery (EES) has recently been used for the treatment of posterior fossa tumors. The optimal method of reconstruction of large clival defects following EES has not been established. A morphometric analysis of the posterior fossa was performed in patients who underwent transclival EES to compare those with observed postoperative anatomical changes (study group) to 50 normal individuals (anatomical control group) and 41 matched transclival cases with preserved posterior fossa anatomy (case-control group) using the same parameters. Given the absence of clival bone following transclival EES, the authors used the line between the anterior commissure and the basion as an equivalent to the clival plane to evaluate the location of the pons. Four parameters were studied and compared in the two populations: the pontine location/displacement, the maximum anteroposterior (AP) diameter of the pons, the maximum AP diameter of the fourth ventricle, and the cervicomedullary angle (CMA). All measurements were performed on midsagittal 3-month postoperative MR images in the study group. Among 103 posterior fossa tumors treated with transclival EES, 14 cases (13.6%) with postoperative posterior fossa anatomy changes were identified. The most significant change was anterior displacement of the pons (transclival pontine encephalocele) compared with the normal location in the anatomical control group (p 50% of the clivus) and dura. Nine (64.3%) of the 14 patients were overweight (body mass index [BMI] > 25 kg/m(2)). An association between BMI and the degree of pontine encephalocele was observed, but did not reach statistical significance. The use of a fat graft as part of the reconstruction technique following transclival EES with dural opening was the single significant factor that prevented pontine displacement (p = 0.02), associated with 91% lower odds of pontine encephalocele (OR = 0.09, 95% CI 0.01-0.77). The effect of fat graft reconstruction was

Basal sphenoethmoidal encephalocele in association with midline cleft lip and palate: case report

International Nuclear Information System (INIS)

Holanda, Maurus Marques de Almeida; Rocha, Artur Bastos; Santos, Rayan Haquim Pinheiro; Furtado, Paulo Germano Cavalcanti

2011-01-01

Association of basal sphenoethmoidal encephalocele with midline cleft lip and palate is extremely rare. The authors report the case of a nine-year-old girl presenting a midline facial cleft with meningocele that was noticeable through the palatine defect as a medial intranasal pulsatile mass. An analysis of clinical and radiological findings of the present case of cranial dysraphism is carried out. (author)

Basal sphenoethmoidal encephalocele in association with midline cleft lip and palate: case report

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Holanda, Maurus Marques de Almeida; Rocha, Artur Bastos; Santos, Rayan Haquim Pinheiro [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil); Furtado, Paulo Germano Cavalcanti [Universidade Federal da Paraiba (UFPB), Joao Pessoa, PB (Brazil). Dept. de Pediatria e Genetica

2011-11-15

Association of basal sphenoethmoidal encephalocele with midline cleft lip and palate is extremely rare. The authors report the case of a nine-year-old girl presenting a midline facial cleft with meningocele that was noticeable through the palatine defect as a medial intranasal pulsatile mass. An analysis of clinical and radiological findings of the present case of cranial dysraphism is carried out. (author)

Acute traumatic orbital encephalocele: A case report with review of literature

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Manish Jaiswal

2013-01-01

Full Text Available Orbital roof fractures after a blunt injury are an uncommon complication of trauma. Traumatic encephaloceles in the orbital cavity are even rarer, with only 15 cases published till date. Raised intraorbital pressure leading to irreversible damage to the optic nerve can be prevented by early diagnosis and management. Orbital computed tomography (CT with thin axial and coronal sections is helpful in trauma patients with a concurrent orbital trauma. Decompression of the orbital roof is the key step in surgical treatment and should be performed in every case. Repairing the orbital roof has to be performed to avoid transmission of variation in the intracranial pressure to the orbit. We present a case of traumatic orbital encephalocele who underwent surgical treatment via a frontobasal approach with evacuation of the contused herniated brain and reconstruction of the orbital roof using temporalis fascia which is readily available in contrast to costly materials like titanium mesh, screws, bone powder, fibrin glue, and so on, which are not easily available in every hospital. Rapid resolution of proptosis and visual symptoms along with excellent cosmetic outcome was seen at follow-ups after three and nine months. We emphasize the early diagnosis of this rare condition and also emergency treatment to prevent permanent visual loss as well as to achieve good cosmetic results.

Secondary encephalocele in infant following subdural empyema repaired endoscopically-A case report.

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Verma, Roshan K; Kaur, Navjot

2017-09-01

Subdural empyema (SDE) is an uncommon entity, mostly associated with meningitis and can be life threatening in infants. Rarely, a subdural empyema can lead to nasal encephalocele which can be challenging situation to manage especially in infant. We present a case of 7 month old infant who presented with subdural empyema that led to formation of nasal encaphalocele after 4 months which was managed endoscopic route. Copyright © 2017 Elsevier B.V. All rights reserved.

Basal encephalocele associated with morning glory syndrome: case report Encefalocele basal associada a síndrome "morning glory": relato de caso

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Ivanete Minotto

2007-12-01

Full Text Available The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur. We accounted for a pituitary dwarfism with delayed diagnosed transsphenoidal encephalocele associated with morning glory syndrome, showing the alterations found in retinography, computed tomography and magnetic resonance imaging.As encefaloceles basais são entidades raras e correspondem a herniações do tecido cerebral através de um defeito do crânio, ao longo da lâmina crivosa etmoidal ou do osso esfenoidal. A rara síndrome morning glory, com alterações de fundo de olho características pode apresentar-se associada à encefalocele basal. Deficiências hormonais hipofisárias podem ocorrer. Relatamos caso de nanismo hipofisário com encefalocele transesfenoidal de diagnóstico tardio associada à síndrome de morning glory, mostrando as alterações na retinografia, tomografia computadorizada e ressonância magnética.

Frontal Encephalocele Associated With a Bilateral Tessier Number Three Cleft and Fraser Syndrome.

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Wood, Benjamin C; Yi, Sojung; Oh, Albert K; Rogers, Gary F; Magge, Suresh N

2015-09-01

Oblique craniofacial clefts and encephaloceles are each rare conditions, and only a few instances of these findings in combination have been described. Each pathologic entity presents a unique reconstructive challenge. The authors report the case of a male infant who presented with a large right frontoencephalocele and bilateral Tessier number 3 clefts. A review of the pertinent literature, including specific considerations related to perioperative management and technical aspects of the surgical approach, is discussed.

Endoscopic transnasal repair of cerebrospinal fluid leaks with and without an encephalocele in pediatric patients: from infants to children.

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Ma, Jingying; Huang, Qian; Li, Xiaokui; Huang, Dongsheng; Xian, Junfang; Cui, Shunjiu; Li, Yunchuan; Zhou, Bing

2015-09-01

The diagnosis and management of pediatric cerebrospinal fluid (CSF) leak and encephalocele are challenging. The current study aimed to identify patient characteristics, review operative techniques, and evaluate the efficacy and safety of endoscopic endonasal repair in a pediatric population. We retrospectively reviewed the records of pediatric patients who underwent transnasal endoscopic repair of CSF leak with or without a meningocele or an encephalocele at Beijing Tongren Hospital, Capital Medical University, between July 2003 and May 2014. All patients had preoperative radiological evaluations and underwent endoscopic endonasal repair of their skull base defects. Altogether, 23 children (mean age 7.0 years) underwent the procedures. Sixteen cases were congenital, and 7 patients had trauma history. The herniations or defects included meningoencephaloceles in 15 cases, meningoceles in 4 cases, and CSF leak in 4 cases (2 patients had bilateral leaks). The leak or herniation sites were ethmoid roof in 10 patients (one was bilateral), cribriform plate in 5, lateral to the foramen cecum in 3, posterior wall of the frontal sinus in 1, sphenoid sinus in 2, lateral recess of the sphenoid sinus in 1, and sella turcica base in 2. All subjects had favorable clinical outcomes without recurrence during a follow-up of 6-123 months (mean 61.1 months). The endoscopic endonasal approach was the preferred method for repairing CSF leaks with or without an encephalocele in pediatric patients. Compared to traditional operations, this endoscopic procedure is minimally invasive, efficient, and safe.

Recurrent bacterial meningitis occurring five years after closed head injury and caused by an intranasal post-traumatic meningo-encephalocele.

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Giunta, G.; Piazza, I.

1991-01-01

A case of atypical presentation of a post-traumatic intranasal meningo-encephalocele is described in a patient with a history of recurrent bacterial meningitis occurring 5 years after closed head injury. The usefulness of the CT and MRI findings in diagnostic evaluation of this lesion is emphasized. Images Figure 1 Figure 2 PMID:2068033

The association of sphenoidal encephalocele and right anophthalmia with septo-optic dysplasia: a case report.

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Erol, Fatih Serhat; Ucler, Necati; Kaplan, Metin; Yilmaz, Ilhan

2012-01-01

Septo-optic dysplasia (SOD) is an extremely rare congenital anomaly, characterized with optic nerve hypoplasia and absence of septum pellucidum and/or pituitary dysfunction. In addition to classical findings of SOD, we report for the first time an 11-year-old boy, with encephalocele extending to the right sphenoidal sinus, right anophthalmia and normal pituitary functions. Despite all the major anomalies, the patient's presenting symptoms were very few and during the 11-year period the SDO had caused no complaints in our case. These findings show that the SOD course may be fairly benign. No neurological problem was encountered in the patient's follow-up, except headache. We believe that SOD should be kept in mind because of its rarity and the severity of its combined pathologies.

The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele

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Kara, Ozgun Kaya; Mutlu, Akmer; Gunel, Mintaze Kerem

2010-01-01

This study aimed to exhibit the effects of early physiotherapy and discusses post-treatment results on a patient with incontinentia pigmenti (IP) with encephalocele. Physiotherapy evaluations of the child included cognitive, fine and gross motor development assessed with the Bayley Scales of Infant and Toddler Development – Third Edition (Bayley-III), disability level with the gross motor function classification system, gross motor function with the gross motor function measurement (GMFM), and tonus evaluation with the Modified Ashworth Scale. The child was included in a physiotherapy and rehabilitation programme based on neurodevelopmental treatment three times a week. Although cognitive and motor development according to Bayley-III improved in the present case, motor and cognitive retardation became more apparent with growth. GMFM results indicated a large improvement from 5.88% to 47.73%. Presentation of this case shows the significance of early physiotherapy in this first study on physiotherapy for IP during the early rehabilitation process. PMID:22767665

Temporal bone encephalocele and cerebrospinal fluid fistula repair utilizing the middle cranial fossa or combined mastoid-middle cranial fossa approach.

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Carlson, Matthew L; Copeland, William R; Driscoll, Colin L; Link, Michael J; Haynes, David S; Thompson, Reid C; Weaver, Kyle D; Wanna, George B

2013-11-01

The goals of this study were to report the clinical presentation, radiographic findings, operative strategy, and outcomes among patients with temporal bone encephaloceles and cerebrospinal fluid fistulas (CSFFs) and to identify clinical variables associated with surgical outcome. A retrospective case series including all patients who underwent a middle fossa craniotomy or combined mastoid-middle cranial fossa repair of encephalocele and/or CSFF between 2000 and 2012 was accrued from 2 tertiary academic referral centers. Eighty-nine consecutive surgeries (86 patients, 59.3% women) were included. The mean age at time of surgery was 52.3 years, and the left side was affected in 53.9% of cases. The mean delay between symptom onset and diagnosis was 35.4 months, and the most common presenting symptoms were hearing loss (92.1%) and persistent ipsilateral otorrhea (73.0%). Few reported a history of intracranial infection (6.7%) or seizures (2.2%). Thirteen (14.6%) of 89 cases had a history of major head trauma, 23 (25.8%) were associated with chronic ear disease without prior operation, 17 (19.1%) occurred following tympanomastoidectomy, and 1 (1.1%) developed in a patient with a cerebral aqueduct cyst resulting in obstructive hydrocephalus. The remaining 35 cases (39.3%) were considered spontaneous. Among all patients, the mean body mass index (BMI) was 35.3 kg/m(2), and 46.4% exhibited empty sella syndrome. Patients with spontaneous lesions were statistically significantly older (p = 0.007) and were more commonly female (p = 0.048) compared with those with nonspontaneous pathology. Additionally, those with spontaneous lesions had a greater BMI than those with nonspontaneous disease (p = 0.102), although this difference did not achieve statistical significance. Thirty-two surgeries (36.0%) involved a middle fossa craniotomy alone, whereas 57 (64.0%) involved a combined mastoid-middle fossa repair. There were 7 recurrences (7.9%); 2 patients with recurrence developed

Neurosurgical management of anterior meningo-encephaloceles about 60 cases

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Rifi, Loubna; Barkat, Amina; El Khamlichi, Abdeslam; Boulaadas, Malek; El Ouahabi, Abdessamad

2015-01-01

Anterior meningo-encephaloceles (AME) are congenital malformations characterized by herniation of brain tissue and meninges through a defect in the cranium, in frontal, orbital, nasal and ethmoidal regions. The management of this complex congenital malformation is controversial according to whether use, an intracranial, extra-cranial or combined approach. This is the first largest series published in Africa, in which we present our experience in the operative management of AME; we share our recommendation in technical consideration for surgical approach with review of the literature. All patients beneficed of neuro-radiological investigations including Plan X rays, Spiral Three dimensional CT scan and MRI. Ophthalmologic and maxillo-facial evaluations were done in all the cases. MEA are surgically approached in various ways, mainly on the basis of its location and type, by cranio-facial approach in one-step, or in two stages by intracranial approach followed by facial approach, only by cranial approach or facial approach. The surgical results were evaluated in the follow up on the basis of disappearance of cranio-facial tumefaction with correction of hypertelorism. 60 children with AME were treated in our department between January 1992 and December 2012. The mean age at time of surgery was 14 months (20 days to 18 years) with slight men predominance (28 females/32 males). Cranio-facial team operated 21 patients, 16 were operated in two stages by intracranial approach followed by facial approach, 20 cases beneficed the neurosurgical approach and three only the facial approach Some post operative complications were observed: 2 cases of post operative hydrocephalus underwent shunt; CSF fistulas in three cases cured by spinal drainage, one death due to per operative hypothermia, 3 cases of recurrence how needed second surgery. After mean follow up for 80 months (1 year to 19 years) theses techniques permitted a good cosmetics results in 42 cases, average cosmetics

Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and coelocentesis.

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Tonni, Gabriele; Ventura, Alessandro; Bonasoni, Maria Paola

2009-09-01

A 27-year-old pregnant woman was diagnosed by 3D transvaginal ultrasound as carrying a fetus of 9(+5) weeks gestation affected by acrania/encephalocele (exencephaly) sequence. A 2D transvaginal ultrasound-guided aspiration of 5 mL of extra-coelomic fluid was performed under cervical block before uterine suction. Conventional cytogenetic analysis demonstrated a 92,XXXX karyotype. Transvaginal 2D ultrasound-guided coelocentesis for rapid karyotyping can be proposed to women who are near to miscarriage or in cases where a prenatal ultrasound diagnosis of congenital anomaly is performed at an early stage of development. Genetic analysis can be performed using traditional cytogenetic analysis or can be aided by fluorescence in situ hybridization (FISH). Coelocentesis may become an integral part of first trimester armamentarium and may be clinically useful in the understanding of the pathogenesis of early prenatally diagnosed congenital anomalies.

Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

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Bağci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

2010-01-01

Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. 2010 S. Karger AG, Basel.

Small temporal pole encephalocele: A hidden cause of "normal" MRI temporal lobe epilepsy.

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Toledano, Rafael; Jiménez-Huete, Adolfo; Campo, Pablo; Poch, Claudia; García-Morales, Irene; Gómez Angulo, Juan Carlos; Coras, Roland; Blümcke, Ingmar; Álvarez-Linera, Juan; Gil-Nagel, Antonio

2016-05-01

Small temporal pole encephalocele (STPE) can be the pathologic substrate of epilepsy in a subgroup of patients with noninformative magnetic resonance imaging (MRI). Herein, we analyzed the clinical, neurophysiologic, and radiologic features of the epilepsy found in 22 patients with STPE, and the frequency of STPE in patients with refractory focal epilepsy (RFE). We performed an observational study of all patients with STPE identified at our epilepsy unit from January 2007 to December 2014. Cases were detected through a systematic search of our database of RFE patients evaluated for surgery, and a prospective collection of patients identified at the outpatient clinic. The RFE database was also employed to analyze the frequency of STPE among the different clinical subgroups. We identified 22 patients with STPE (11 women), including 12 (4.0%) of 303 patients from the RFE database, and 10 from the outpatient clinic. The median age was 51.5 years (range 29-75) and the median age at seizure onset was 38.5 years (range 15-73). Typically, 12 (80%) of 15 patients with left STPE reported seizures with impairment of language. Among the RFE cases, STPE were found in 9.6% of patients with temporal lobe epilepsy (TLE), and in 0.5% of those with extra-TLE (p = 0.0001). STPEs were more frequent in TLE patients with an initial MRI study reported as normal (23.3%) than in those with MRI-visible lesions (1.4%; p = 0.0002). Stereo-electroencephalography was performed in four patients, confirming the localization of the epileptogenic zone at the temporal pole with late participation of the hippocampus. Long-term seizure control was achieved in four of five operated patients. STPE can be a hidden cause of TLE in a subgroup of patients with an initial report of "normal" MRI. Early identification of this lesion may help to select patients for presurgical evaluation and tailored resection. Wiley Periodicals, Inc. © 2016 International League Against Epilepsy.

Symptomatic Parietal Intradiploic Encephalocele—A Case Report and Literature Review

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Shi, Chen; Flores, Bruno; Fisher, Stephen; Barnett, Samuel L

2017-01-01

Encephalocele is a rare condition that consists of herniation of cerebral matter through openings of dura and skull. A majority of encephaloceles are congenital and manifest in childhood. We present a case of a 45-year-old man presenting with contralateral hemiparesis and found to have an extremely rare phenomenon of a symptomatic posttraumatic parietal intradiploic encephalocele (IE) manifesting 36 years following pediatric traumatic head injury. Computed tomography and magnetic resonance imaging confirmed herniation of brain tissue into the intradiploic space. Surgical treatment with reduction of the encephalocele achieved near resolution of preoperative hemiparesis on follow-up. The pathogenesis and a literature review of IE are discussed. PMID:28316901

Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report.

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Rossini, Zefferino; Castellani, Carlotta; Borsa, Stefano; Carrabba, Giorgio; Locatelli, Marco; Di Cristofori, Andrea

2016-05-01

Osteopetroses are a heterogeneous group of heritable disorders characterized by increased bone density as the result of defective osteoclast-mediated bone resorption. The autosomal-dominant osteopetrosis type I (ADO-I) is defined by the presence of osteosclerosis involving mainly the skull bones, variably associated with compression of the foramina of cranial nerves and vascular structures, hypertelorism, exophthalmos, and less commonly with hydrocephalus, pseudotumor, and Chiari malformation type I. We describe an adult patient with ADO-I presenting with an atypical association of clinical manifestations that required a tailored management. On admission, the patient complained about chronic headache, recurrent sinusitis, and postnasal drip. Findings of the examination didn't show clear signs of increased intracranial pressure, whereas imaging studies revealed thickening of the skull bones and an unexpected fistula associated with anterior ethmoidal meningoencephalocele. Some days after endoscopic transnasal closure of the fistula, a severe hypertensive hydrocephalus developed, which required a prompt ventriculoperitoneal shunt placement, complicated by a diffuse subarachnoid hemorrhage. The 6-month follow-up showed complete recovery. After reviewing the literature, we can confirm that ours was the second case of an adult ADO-I patient associated with anterior ethmoidal meningoencephalocele, the first one needing a combined treatment of the encephalocele and hydrocephalus. Because ADO-I is a rare disease with a wide spectrum of clinical manifestations, our case can represent a prototype for the future management of similar cases. Copyright © 2016. Published by Elsevier Inc.

Encephaloceles

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... Children, Inc. 976 Lake Baldwin Lane Suite 104 Orlando FL Orlando, FL 32814 betty@birthdefects.org http://www.birthdefects. ... Children, Inc. 976 Lake Baldwin Lane Suite 104 Orlando FL Orlando, FL 32814 betty@birthdefects.org http:// ...

Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome.

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Panuganti, Bharat A; Leach, Matthew; Antisdel, Jastin

2015-01-01

Cerebrospinal fluid (CSF) rhinorrhea and encephaloceles are rare complications of craniofacial advancement procedures performed in patients with craniofacial dysostoses (CD) to address the ramifications of their midface hypoplasia including obstructed nasal airway, exorbitism, and impaired mastication. Surgical repair of this CSF rhinorrhea is complicated by occult elevations in intracranial pressure (ICP), potentially necessitating open, transcranial repair. We report the first case in otolaryngology literature of a patient with Crouzon syndrome with late CSF rhinorrhea and encephalocele formation after previous LeFort III facial advancement surgery. Describe the case of a patient with Crouzon syndrome who presented with CSF rhinorrhea and encephaloceles as complications of Le Fort III facial advancement surgery. Review the literature pertaining to the incidence and management of post-operative CSF rhinorrhea and encephaloceles. Analyze issues related to repair of these complications, including occult elevations in ICP, the utility of perioperative CSF shunts, and the importance of considering alternative repair schemes to the traditional endonasal, endoscopic approach. Review of the literature describing CSF rhinorrhea and encephalocele formation following facial advancement in CD, focusing on management strategies. CSF rhinorrhea and encephalocele formation are rare complications of craniofacial advancement procedures. Occult elevations in ICP complicate the prospect of permanent surgical repair, potentially necessitating transcranial repair and the use of CSF shunts. Though no consensus exists regarding the utility of perioperative CSF drains, strong associations exist between elevated ICP and failed surgical repair. Additionally, the anatomic changes in the frontal and ethmoid sinuses after facial advancement present a challenge to endoscopic repair. Otolaryngologists should be aware of the possibility of occult elevations in ICP and sinonasal anatomic

Roentgenologic features of the Meckel syndrome

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Seppaenen, U.; Herva, R.

1983-09-21

The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs Microcephaly with an occipital bone defect and encephalocele or hydrocephaly (1/6), short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.

NASO FRONTAL LESIONS IN THE MIDLINE OF CHILDREN

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Juan Antonio Lugo Machado

2015-04-01

Full Text Available Congenital nasofrontal lesions of the midline are rare congenital abnormalities such as dermoid cysts, nasal gliomas and encephaloceles, with an occurrence of 1: 20,000 to 40,000 births. Its importance lies in the connection to the central nervous system. The biopsy of the lesions with intracranial communication, produce cerebrospinal fluid leaks or meningitis. Objective: To determine the prevalence of midline nasofrontal lesions in a tertiary hospital of regional referral and it´s relationship with other malformations. Material and Methods: Study Design: Transversal retrospective. Male and female patients aged 1 month to 13 years of age with congenital lesions of the nasofrontal midline, treated at Children's Hospital from 1990 to 2005. Sample: was obtained by a non-probabilistic sample of consecutive cases. Through the Statistical Package for the Social Sciences (SPSS version 13.0 which included descriptive statistics: median as a measure of central tendency and frequency distribution and proportion as a measure of dispersion. Results: a review of clinical records was conducted from 1990 to 2005, finding 38 of 67 records reviewed, 29 files were excluded because they correspond to the diagnosis of occipital encephalocele. Prevalence was 38 cases in 15 years. The gender distribution of nasofrontal midline lesions was slightly higher in females with 22 cases and 16 cases in males. The midline nasofrontal lesions found were midline encephalocele, gliomas and dermoid cysts. In our review most encephaloceles were not associated with the central nervous system and 11 cases did have an associated disorder; 5 cases with hydrocephalus and / or temporal or occipital cysts and 6 cases with nondevelopment of the corpus callosum plus hydrocephalus. Conclusion: Our prevalence was 38 cases in 15 years. Nasofrontal midline lesion disgnosis are usually made in the first months of life. Among the types of midline nasofrontal lesions, the most common type found

Roentgenologic features of the Meckel syndrome

International Nuclear Information System (INIS)

Seppaenen, U.; Herva, R.

1983-01-01

The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs Microcephaly with an occipital bone defect and encephalocele or hydrocephaly [1/6], short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases. (orig.)

Not the usual sinusitis

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Ammar, Hussam; Kott, Amy; Fouda, Ragai

2012-01-01

An encephalocele is a protrusion of the cranial contents beyond the normal confines of the skull. It is a rare cause of seizure in adults. A 38-year-old woman presented with a first-onset seizure. Brain CT was interpreted as right frontal sinus opacification suggestive of sinusitis. The patient was discharged home with an amoxicillin prescription. A few days later, she was re-admitted with another seizure. Careful evaluation of the brain CT and MRI revealed a right frontal sinus posterior wall defect and possible brain encephalocele. The patient had complained of chronic nasal discharge for years and had also noticed a watery discharge from her right nostril. We suspected cerebrospinal fluid rhinorrhea. A bifrontal craniotomy was performed, the encephalocele was resected and cranialisation of the frontal sinus was completed. The patient remained free of seizures at the last follow-up. PMID:23188840

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

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Sirikci, Akif; Bayazit, Yildirim A.; Bayram, Metin

2001-01-01

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

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

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Sirikci, Akif E-mail: sirikci@yahoo.com; Bayazit, Yildirim A.; Bayram, Metin

2001-09-01

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.

Encephalocele in Uganda: ethnic distinctions in lesion location, endoscopic management of hydrocephalus, and survival in 110 consecutive children.

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Warf, Benjamin C; Stagno, Vita; Mugamba, John

2011-01-01

This study characterizes the first clinical series of encephalocele (EC) from East or Central Africa, and is the largest reported from the African continent. The authors explored survival, the efficacy of primary endoscopic management of associated hydrocephalus, and ethnic differences in EC location. One hundred ten consecutive children presented to CURE Children's Hospital of Uganda for treatment of EC over a 9-year period. Clinical data, including patient demographic information, birth date, lesion type (sincipital, parietal, or occipital), operative data, and subsequent course had been entered prospectively into a clinical database. Home visits to update the status of those lost to follow-up were done when possible. With appropriate institutional approvals, the database was reviewed for this retrospective study. Two-tailed probability values calculated using the Fisher exact test were used to assess the significance of differences among groups, with p < 0.05 being considered significant. The Kaplan-Meier method was used for analysis of survival and treatment success probabilities. There were 53 (48%) occipital, 33 (30%) sincipital, and 24 (22%) parietal lesions. Occipital lesions were significantly more common among children of Bantu origin (p = 0.02). Nilotes demonstrated a roughly equal distribution among sincipital, parietal, and occipital locations. The female/male ratio was 1.2, with no difference between EC types (range 1.0-1.4, p = 0.6-0.8). Of 110 patients, 108 (98%) underwent surgical repair at a median age of 1 month (mean 15.7 months), whereas 2 had treatment for hydrocephalus only. Wound revision was required in 13% of cases. Surgery-related mortality was 3%. One-year and 5-year survival rates were 87% (95% CI 0.79-0.93) and 61% (95% CI 0.51-0.70), respectively. Hydrocephalus required treatment in 32%, and was equally common among the 3 EC types. Thirteen patients were treated with combined endoscopic third ventriculostomy/choroid plexus

Facts about Encephalocele

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... of the Aorta D-Transposition of the Great Arteries Hypoplastic Left Heart Syndrome Pulmonary Atresia Tetralogy of ... Privacy FOIA No Fear Act OIG 1600 Clifton Road Atlanta , GA 30329-4027 USA 800-CDC-INFO ( ...

Diagnosis of Chiari III malformation by second trimester fetal MRI with postnatal MRI and CT correlation

International Nuclear Information System (INIS)

Smith, Alice B.; Glenn, Orit A.; Gupta, Nalin; Otto, Carl

2007-01-01

We report a case of Chiari III malformation diagnosed by fetal MRI. Ultrasound (US) performed at a gestational age of 18 weeks demonstrated a posterior skull base cyst. Repeat US at 19 weeks demonstrated neural tissue in the cyst, consistent with an encephalocele. MR imaging at 23 weeks confirmed the presence of an occipital encephalocele, demonstrated additional bony defect in the upper cervical spine, and identified abnormal morphology and position of the brainstem consistent with the diagnosis of Chiari III. Postnatal MRI and CT confirmed the fetal MRI findings and demonstrate the utility of fetal MRI in the early evaluation of songraphically detected posterior fossa abnormalities. (orig.)

Diagnosis of Chiari III malformation by second trimester fetal MRI with postnatal MRI and CT correlation

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Smith, Alice B.; Glenn, Orit A. [University of California, San Francisco, Department of Radiology, San Francisco, CA (United States); Gupta, Nalin [University of California, San Francisco, Department of Neurosurgery, San Francisco, CA (United States); Otto, Carl [California Pacific Medical Center, Department of Perinatology, San Francisco, CA (United States)

2007-10-15

We report a case of Chiari III malformation diagnosed by fetal MRI. Ultrasound (US) performed at a gestational age of 18 weeks demonstrated a posterior skull base cyst. Repeat US at 19 weeks demonstrated neural tissue in the cyst, consistent with an encephalocele. MR imaging at 23 weeks confirmed the presence of an occipital encephalocele, demonstrated additional bony defect in the upper cervical spine, and identified abnormal morphology and position of the brainstem consistent with the diagnosis of Chiari III. Postnatal MRI and CT confirmed the fetal MRI findings and demonstrate the utility of fetal MRI in the early evaluation of songraphically detected posterior fossa abnormalities. (orig.)

Microencephaloceles: another dual pathology of intractable temporal lobe epilepsy in childhood.

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Aquilina, Kristian; Clarke, Dave F; Wheless, James W; Boop, Frederick A

2010-04-01

Temporal lobe encephaloceles can be associated with temporal lobe epilepsy. The authors report on the case of an adolescent with multiple microencephaloceles, in the anterolateral middle fossa floor, identified at surgery (temporal lobectomy) for intractable partial-onset seizures of temporal origin. Magnetic resonance imaging revealed only hippocampal atrophy. Subdural electrodes demonstrated ictal activity arising primarily from the anterior and lateral temporal lobe, close to the microencephaloceles, spreading to the anterior and posterior mesial structures. Pathological examination revealed diffuse temporal gliosis involving the hippocampus, together with microdysgenesis of the amygdala. The literature on epilepsy secondary to encephaloceles is reviewed and the contribution of the microencephaloceles to the seizure disorder in this patient is discussed.

Genetics Home Reference: Knobloch syndrome

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... Institute: Facts About Retinal Detachment National Institute of Neurological Disorders and Stroke: Encephaloceles Educational Resources (6 links) Boston Children's Hospital: Retinal Disorders Q&A Disease InfoSearch: Knobloch ...

Nontraumatic orbital roof encephalocele.

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Hoang, Amber; Maugans, Todd; Ngo, Thang; Ikeda, Jamie

2017-02-01

Intraorbital meningoencephaloceles occur most commonly as a complication of traumatic orbital roof fractures. Nontraumatic congenital orbital meningoncephaloceles are very rare, with most secondary to destructive processes affecting the orbit and primary skull defects. Treatment for intraorbital meningoencephaloceles is surgical repair, involving the excision of herniated brain parenchyma and meninges and reconstruction of the osseous defect. Most congenital lesions present in infancy with obvious globe and orbital deformities; we report an orbital meningoencephalocele in a 3-year-old girl who presented with ptosis. Copyright © 2017 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

MR imaging of temporal lobe meningoencephalocele

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Tampieri, D.; Leblanc, R.; Melangon, D.; del-Carpio-O'Donovan, R.; Ethier, R.

1991-01-01

Basal meningoencephaloceles represent a rare entity, and they may be associated with a variety of midline cerebral abnormalities. The classification of basal meningoencephaloceles is related to their anatomic location. This paper reports experience in 3 patients, 2 who have temporal lobe epilepsy and a bone defect in the region of the foramen rotondum. In these 2 patients the encephalocele and its covering were protruding into the pterygopalatine fossa without any orbital involvement. The third patient presented with cerebrospinal fluid rhinorrhea caused by a transsphenoidal meningoencephalocele. MR imaging is the examination of choice for detecting these lesions since it allows for the visualization of the encephalocele and its meningeal covering as well as the bone defect and associated lesions in the temporal lobes

Urban-Rural Variation in the Occurrence of Neural Tube Defects in Texas

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This study examined the pattern and magnitude of urban-rural variation in anencephaly, spina bifida without anencephaly, and encephalocele in Texas using four different indicators of urban-rural status for the period 1999 to 2003.

Nigerian Journal of Medicine - Vol 22, No 1 (2013)

African Journals Online (AJOL)

The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital - A three year experience · EMAIL FULL TEXT EMAIL FULL TEXT DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT. CE Amadi, PO Eghwrudjakpor, 19-23 ...

False Computed Tomography Findings in Bilateral Choanal Atresia

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Elsheikh, Ezzeddin

2016-01-01

Full Text Available Introduction Choanal atresia (CA is a challenging surgical problem defined as a failure in the development of communication between the nasal cavity and nasopharynx. Objective The objective of this study is to describe computed tomography (CT findings in cases with bilateral choanal atresia. Methods The study involved performing axial and coronal non-contrast CT scanning with 2–3 mm sections on14 neonates that had bilateral CA. We used fiberoptic nasal endoscopy to confirm the diagnosis. We evaluated coronal CT to study the skull base area in such neonates. Results This study included 14 neonates with bilateral CA; with mean age of 7 ± 3.5 days. Mixed atretic plates were found in 12 (85.7% cases while two (14.3% had pure bony atresia. Isolated CA was detected in 9 cases (64.3% and 5 (35.7% cases had associated anomalies. Coronal CT showed soft tissue density in the nasal cavity that appeared to extend through an apparent defect in the nasal roof (cribriform plate, falsely diagnosed by radiologists as associated encephalocele. At the time of surgical repair, all patients showed thick tenacious mucous secretions in both nasal cavities and revealed no encephalocele. Nasal roof remained intact in all cases. Conclusion The thick secretion of bilateral CA could give a false encephalocele appearance on the CT. It is highly recommended to perform proper suction of the nasal cavity of suspected CA cases just before CT scanning.

A newborn with very rare von Voss-Cherstvoy syndrome and literature review

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Sharma D

2016-07-01

Full Text Available Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Pradeep Sharma4 1Department of Pediatrics, Pt. Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, N.K.P. Salve Medical College, Nagpur, Maharashtra, 4Department of Medicine, Mahatma Gandhi Medical College and Research Institute, Jaipur, Rajasthan, India Introduction: von Voss-Cherstvoy syndrome is a part of a group of syndromes with radial and hematologic abnormalities, and until now approximately ten cases have been reported in the literature. This syndrome is characterized by a triad of radial ray defects, occipital encephalocele, and urogenital abnormalities.Case presentation: We report a neonate from Indian ethnicity who was diagnosed with von Voss-Cherstvoy syndrome. The neonate had radial ray defect, occipital encephalocele, tetralogy of Fallot, and bilateral agenesis of kidney, ureter, and bladder. The neonate was suspected to have von Voss-Cherstvoy syndrome on the basis of clinical features, which was further confirmed by fibroblast analysis showing somatic mosaicism for del(13q.Conclusion: von Voss-Cherstvoy syndrome is a very rare syndrome that can be suspected on the basis of typical clinical features and confirmed by fibroblast analysis showing somatic mosaicism for del(13q. This adds a second case of this chromosome anomaly described in this syndrome. Keywords: von Voss-Cherstvoy syndrome, radial ray defects, occipital encephalocele, urogenital abnormalities, somatic mosaicism for del(13q

A Fetus with Iniencephaly Delivered at the Third Trimester

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Esra Cinar Tanriverdi

2015-01-01

Full Text Available Iniencephaly is an uncommon neural tube defect, having retroflexion of the head without a neck and severe distortion of the spine. Iniencephaly is classified into two groups, iniencephaly apertus (with encephalocele and iniencephaly clausus (without encephalocele. Incidence ranges from 0.1 to 10 in 10.000 pregnancies and it is seen more frequently in girls. Most of the fetuses with this defect die before birth or soon after birth, while those with the milder forms may live through childhood. Recurrence risk is around 1–5%. Family should be offered termination to reduce maternal risks and counseled for folic acid supplementation before the next planned pregnancy. Here we present a rare case of iniencephaly clausus which was diagnosed at 18th week of gestation by ultrasonography and delivered in the third trimester of pregnancy due to rejection of termination.

Meckel-Gruber Syndrome : a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

NARCIS (Netherlands)

Barisic, Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Bergman, Jorieke E. H.; Braz, Paula; Draper, Elizabeth S.; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Verellen-Dumoulin, Christine

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of

Salivary gland anlage tumour

African Journals Online (AJOL)

developmental midline nasal lesions such as a meningo-encephalocele or glioma. Neoplastic lesions are usually benign, and include dermoids, hamartomas, teratomas and haemangiomas. Malignant lesions such as neuroblastoma, rhabdomyosarcoma or lymphoma may be seen, but are extremely rare, and metastatic ...

Unilateral CHARGE association

NARCIS (Netherlands)

Trip, J; van Stuijvenberg, M; Dikkers, FG; Pijnenburg, MWH

A case with a predominantly unilateral CHARGE association is reported. The CHARGE association refers to a combination of congenital malformations. This boy had left-sided anomalies consisting of choanal atresia. coloboma and peripheral facial palsy. The infant had a frontal encephalocele. an anomaly

ISSN 2073 ISSN 2073 9990 East Cent. Afr. J. s 9990 East Cent. Afr ...

African Journals Online (AJOL)

Hp 630 Dual Core

scan finding. Other differentials include congenital bilateral dacrocystocoele, deviated nasal septum, encephalocele, and nasal dermoid7. Discussion. Bilateral choanal atresia is a rare developmental problem in which there is failure of complete canalization of the nasal cavities due to persistent buconasal (or nasobuccal).

Frontofacionasal Dysplasia

African Journals Online (AJOL)

rme

226. Frontofacionasal Dysplasia: Another Observation eye. Other ocular features include small eyes, iris colobomas and cataracts. A frontally situated lipoma, causing a swelling at the nasion, was reported in one patient and an encephalocele has been described.3. Mental retardation has been reported in one patient with.

Be careful….. She has a pituitary gland in her nose

NARCIS (Netherlands)

Rabelink, N.M.; Lips, P.T.A.M.; Castelijns, J.

2012-01-01

In this case report we describe a 38 year-old-female with galactorrhea several months after the birth of an anencephalic child. She had hyperpolactemia and imaging of the pituitary gland revealed a midline defect and a nasopharyngeal mass compatible with a meningo-(hypophyso-) encephalocele and

ISSN 2073-9990 East Cent Afr J Surg

African Journals Online (AJOL)

myelomeningocele or encephalocele (MMC/EC) were strongly associated. Complication and infection were significantly and negatively associated with complication-free 1-year survival rate (P < 0.001 each), while gender, age, procedure, and cause of hydrocephalus did not show any association with survival. There was a ...

Case series

African Journals Online (AJOL)

abp

2015-07-24

Jul 24, 2015 ... is very high. The mechanism of postoperative hydrocephalus remains unclear; some authors proposed the common explication: that the encephalocele contains a large part of the resorption mechanism of the cerebro-spinal fluid. So the hydrocephalus must be managed in the post- operative period for all ...

Genetics of the Meckel Syndrome (Dysencephalia Splanchnocystica)

Science.gov (United States)

Hsia, Y. E.; And Others

1971-01-01

Reported are seven cases in two families of the Meckel syndrome, whose key features are occipital encephalocele, cleft lip and palate, polydactyly, and polycystic kidneys. Evidence supports the hypothesis that the syndrome is a recessively inherited condition, determined by homozygous expression of a single autosomal gene. (Author/KW)

Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

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Chih-Ping Chen

2007-03-01

Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

Epidemiologic study of neural tube defects in Los Angeles County. II. Etiologic factors in an area with low prevalence at birth

Energy Technology Data Exchange (ETDEWEB)

Sever, L.E.

1982-01-01

Epidemiologic characteristics of neural tube defect (NTD) births occurring in Los Angeles County, California, residents during the period 1966-1972 are presented. The prevalence at birth was 0.52/1000 births for anencephalus, 0.51/1000 for spina bifida, and 0.08/1000 for encephalocele, rates considered to be low for a predominantly white population. We hypothesized that environmental (nongenetic) factors are of less etiologic importance in a low-prevalence population than in areas or time periods with high prevalence. We tested that hypothesis by examining epidemiologic characteristics of NTDs in Los Angeles County and comparing them with high-prevalence populations. The data did not support a major etiologic role for environmental factors: (1) no significant differences between rates by month of birth or conception; (2) no significant association with maternal age or parity for anencephalus; for spina bifida a significant maternal age effect (P < 0.01) and for encephalocele a parity effect (P < 0.02); and (3) no significant relationship with father's occupational class for either anencephalus or encephalocele but a marginally significant (P < 0.05) inverse association for spina bifida when a statistic based on ordinal relationships was used. Findings supporting the importance of genetic factors in etiology included: (1) a high percentage of males; (2) a higher twin concordance rate than in high-prevalence populations; and (3) an anencephalus rate among blacks comparable with rates for blacks in other United States populations. Our findings in conjunction with those from other areas and times of low prevalence suggest environmental factors play a relatively insignificant role in the etiology of NTDs in such populations.

Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

Science.gov (United States)

Caglayan, Ahmet Okay; Baranoski, Jacob F.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Aslan; Guclu, Bulent; Kaymakcalan, Hande; Aktekin, Berrin; Akgumus, Gozde Tugce; Murray, Phillip B.; Omay, E. Zeynep Erson; Caglar, Caner; Bakircioglu, Mehmet; Sakalar, Yildirim Bayezit; Guzel, Ebru; Demir, Nihat; Tuncer, Oguz; Senturk, Senem; Ekici, Baris; Minja, Frank J.; Šestan, Nenad; Yasuno, Katsuhito; Bilguvar, Kaya; Caksen, Huseyin; Gunel, Murat

2014-01-01

BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. Upon further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology – allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of encephaloceles. PMID:25456301

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African Journals Online (AJOL)

Barkat, A. Vol 21, No 1 (2015) - Articles Neurosurgical management of anterior meningo-encephaloceles about 60 cases. Abstract PDF. ISSN: 1937-8688. AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's · More about AJOL · AJOL's Partners · Terms and Conditions of ...

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L'osteochondrose deformante tibiale ou maladie d'ehrlacher-blount. A propos de 19 cas. Abstract · Vol 8, No 1 (2006): Serie D - Articles Aspects epidemiologiques et diagnostiques des stenoses caustiques de l'oesophage au Togo Abstract · Vol 8, No 2 (2006): Serie D - Articles Les encephaloceles au Chu Tokoin de Lome

Prevalence of neural tube defect and hydrocephalus in Northern ...

African Journals Online (AJOL)

All the cases reported in this study were open neural tube defect (NTD). The most common defect was hydrocephalus occurring in 33 patients representing 57.9%, with spinal bifida occurring in 21 patients representing 38.6%. Encephalocele or cranium bifida occurred in only 5.3% (3 patients). Among the spinal bifida cases ...

ANAESTHETIC CHALLENGES IN THE MANAGEMENT OF PEDIATRIC ENCEPHALOCOELE REPAIR: RETROSPECTIVE CASE SERIES

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Ravindra Giri

2015-02-01

Full Text Available INTRODUCTION: Encephalocele is the protrusion of the cranial contents beyond the normal confines of the skull through a defect in the calvarium and is far less common than spinal dysraphism. 1 Anaesthetic challenges in management of occipital meningoencephalocele include securing the airway with intubation in lateral position, intraoperative prone position and its associated complications, careful securing of the endotracheal tube and accurate assessment of blood loss. These babies also have associated congenital anomalie s, gastrointestinal malrotation, renal anomalies, cardiac malformations and tracheoesophageal fistula, making anaesthetic management even more difficult. Meticulous anaesthetic management is crucial for early repair of encephalocoele to prevent any sequel. 2 METHODS: To identify the anaesthetic challenges, perioperative and postoperative complications during encephalocele repair, 20 cases were studied retrospectively from 2012 to 2014 at Department of Anaesthesia , Department of Neurosurgery, MR Medical College, Gulbarga. RESULTS: 20 cases of encephalocoele repair were undertaken during the study period. Out of these 12 (60% were male and 8(40% female. Age range was 1 day to 6 years. Most common type of encephalocele was occipital 12(60%, which posed a difficulty during positioning & intubation, followed by occipito - cervical 4(20%, Parietal 2(10%, Fronto - nasal 1(5% & Fronto - naso - ethmoidal 1(5%. Most of the patients were extubated successfully on table, only one patient required post - operative ventilator support for a day. Peri - operative complications included bronchospasm (15%, followed by hypotension, tachycardia, laryngospasm, hypoxia, accidental extubation (10% each & bradycardia, endobronchial intubation (5%. CONCLUSION: Children with Encephalocoele are prone to have peri - operative complications which can be managed by meticulous anaesthetic managenement. 3 Early surgical management of encephalocoele is not

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African Journals Online (AJOL)

Les nephroblastomes au Chu de Lome considerations diagnostiques et therapeutiques a propos de 10 cas. Abstract · Vol 8, No 1 (2006): Serie D - Articles L'osteochondrose deformante tibiale ou maladie d'ehrlacher-blount. A propos de 19 cas. Abstract · Vol 8, No 2 (2006): Serie D - Articles Les encephaloceles au Chu ...

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African Journals Online (AJOL)

Abstract · Vol 8, No 1 (2006): Serie D - Articles Aspects epidemiologiques et diagnostiques des stenoses caustiques de l'oesophage au Togo Abstract · Vol 8, No 2 (2006): Serie D - Articles Ruptures traumatiques du tube digestif. Abstract · Vol 8, No 2 (2006): Serie D - Articles Les encephaloceles au Chu Tokoin de Lome

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African Journals Online (AJOL)

The pattern of distribution of encephalocele in University of Port Harcourt Teaching Hospital - A three year experience. Abstract · Vol 20, No 2 (2011) - Articles Evaluation of the Level of Awareness of the Role of Folic Acid in the prevention of Neural Tube Defects amongst Women of Reproductive Age in a Tertiary Health ...

Limb body wall complex: A rare anomaly

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Panduranga Chikkannaiah

2013-01-01

Full Text Available We present autopsy findings of a case of limb body wall complex (LBWC. The fetus had encephalocele, genitourinary agenesis, skeletal anomalies and body wall defects. The rare finding in our case is the occurrence of both cranial and urogenital anomalies. The presence of complex anomalies in this fetus, supports embryonal dysplasia theory of pathogenesis for LBWC.

Neural Tube Defects: Epidemiologic Factors, Clinical Presentation ...

African Journals Online (AJOL)

Of the 103 babies, 87 (84.5%) had spina bifida cystica, 15 (14.6%) had occipital encephalocele, while 1 (0.9%) had anencephaly and died within 8 hours of delivery. All the 87 patients with spina bifida cystica were ruptured and infected at presentation, with seven of them dying from overwhelming sepsis. Most of the babies ...

Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome

OpenAIRE

Panuganti, Bharat A.; Leach, Matthew; Antisdel, Jastin

2015-01-01

Background: Cerebrospinal fluid (CSF) rhinorrhea and encephaloceles are rare complications of craniofacial advancement procedures performed in patients with craniofacial dysostoses (CD) to address the ramifications of their midface hypoplasia including obstructed nasal airway, exorbitism, and impaired mastication. Surgical repair of this CSF rhinorrhea is complicated by occult elevations in intracranial pressure (ICP), potentially necessitating open, transcranial repair. We report the first c...

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Les encephaloceles au Chu Tokoin de Lome Abstract · Vol 11, No 1 (2009): Serie D - Articles Le drainage chirurgical par un dispositif local en traumatologie - orthopedie pediatrique. Abstract · Vol 11, No 2 (2009): Serie D - Articles Les particularités des ostéomyélites de l'humérus chez l'enfant au CHU Tokoin de Lomé

Midline Craniofacial Masses in Children

OpenAIRE

Van Wyhe, Renae D.; Chamata, Edward S.; Hollier, Larry H.

2016-01-01

Nasal dermoids, encephaloceles, and gliomas are rare congenital lesions that result from improper embryologic development. The differentiation between them and a firm understanding of their pathology is necessary to avoid unnecessary complications. In view of their potential intracranial connection, prompt diagnosis and treatment are paramount. The authors review the embryology, diagnoses, radiologic work-up, surgical management, and complications of these midline craniofacial masses in child...

Prenatal sonography and computed tomography for cerebral malformations of the foetus

Energy Technology Data Exchange (ETDEWEB)

Brinkmann, G.; Brix, F.; Weisner, D.

1987-07-01

In three pregnant women, sonography and amniocentesis suggested cranial abnormalities of the foetuses. In view of the far-reaching consequences of such a diagnosis, CT was carried out to confirm the diagnosis. It was possible to show the intra-uterine abnormalities and the type of malformation in considerable detail. In one case an encephalocele was demonstrated, in the two others, an anencephalic foetus was shown.

Prenatal sonography and computed tomography for cerebral malformations of the foetus

International Nuclear Information System (INIS)

Brinkmann, G.; Brix, F.; Weisner, D.; Kiel Univ.

1987-01-01

In three pregnant women, sonography and amniocentesis suggested cranial abnormalities of the foetuses. In view of the far-reaching consequences of such a diagnosis, CT was carried out to confirm the diagnosis. It was possible to show the intra-uterine abnormalities and the type of malformation in considerable detail. In one case an encephalocele was demonstrated, in the two others, an anencephalic foetus was shown. (orig.) [de

Encephalocele and associated skull defects | Komolafe | West ...

African Journals Online (AJOL)

West African Journal of Medicine. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 22, No 1 (2003) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should ...

Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal Prevalence of neural tube defects in Asturias (Spain: impact of prenatal diagnosis

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Enrique García López

2009-12-01

Full Text Available Objetivo Describir la frecuencia de defectos del tubo neural (DTN -anencefalia, espina bífida y encefalocele-en Asturias, su evolución temporal y el impacto del diagnóstico prenatal. Métodos: Se estudiaron los casos de DTN en nacidos y abortos inducidos durante el período 1990-2004, utilizando la base de datos del Registro de Defectos Congénitos de Asturias, de base poblacional. Se calcularon las tasas de prevalencia total y al nacimiento. Resultados: La prevalencia total de DTN fue de 12,2 casos por 10.000 nacidos (5,9 anencefalias, 5,0 espinas bífidas y 1,3 encefaloceles y mostró una tendencia ligeramente descendente, con un descenso significativo de la espina bífida, mientras que las cifras de anencefalia y encefalocele se mantuvieron estables. Finalizaron en aborto inducido tras el diagnóstico prenatal el 88% de los casos (anencefalia 96,7%; espina bífida 80%; encefalocele 84,6%, lo que determinó una prevalencia al nacimiento muy baja (1,4 DTN por 10.000 nacidos. Conclusiones: En Asturias, en los últimos 15 años se ha producido un descenso selectivo en la prevalencia total de espina bífida de causa no aclarada. La prevención secundaria, mediante los programas de diagnóstico prenatal y la consiguiente interrupción del embarazo, fue el motivo del marcado descenso de la frecuencia en los nacidos; la simple recomendación de suplementación periconcepcional con ácido fólico no parece haber logrado el efecto buscado.Objective: To describe the frequency and prevalence trend for neural tube defects (NTD (anencephaly, spina bifida and encephalocele in Asturias (Spain, as well as the impact of prenatal diagnosis programs. Methods: All cases of NTD in births and induced abortions were studied, using data from the Registry of Congenital Defects of Asturias for 1990-2004. Total and birth prevalence rates were calculated. Results: The prevalence of NTD for 1990-2004 was 12.2 per 10,000 births (5.9 anencephaly, 5.0 spina bifida and 1

Meckel-Gruber syndrome: Report of two cases

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C Panduranga

2012-01-01

Full Text Available Meckel-Gruber syndrome (MKS is an autosomal recessive disorder, characterized by a combination of renal cysts and variably associated with features including developmental anomalies of the central nervous system (typically encephalocele, hepatic ductal dysplasia, cysts, and polydactyly. It is a rare syndrome with highest incidence in Gujarati Indians and Finnish population. We report two such cases of MKS in non-Gujarati Indian which were diagnosed by neonatal autopsy.

Prenatal Diagnosis of Iniencephaly: Clues and Pitfalls

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Sertaç Esin

2012-12-01

Full Text Available Iniencephaly is a congenital malformation consisting of occipital bone defect with enlargement of the foramen magnum, cervical dysraphism and fixed retroflection of the head due to spinal deformities. A 38-years-old woman presented to Etlik Zubeyde Hanim Maternity Hospital perinatology clinic at 18 week of gestation. Ultrasonography revealed a large occipital encephalocele and short cervicothoracic spine. Termination of pregnancy was recommended with the diagnosis of iniencephaly but the family refused it because of religious concerns. She was lost in follow-up but at 38 weeks she presented to our department with regular uterine contractions. Ultrasonography revealed extreme retroflexion of the head, a very short cervicothoracic spine, an encephalocele and marked polyhydramnios. Due to severe retroflexion of the head, a caudal sweep motion of the ultrasound probe gave an impression of a posteriorly placed bladder. Normal chin and neck relation was lacking. A cesarean section was decided due to marked flexion of the spine. A female fetus was delivered weighing 2790 g, with Apgar scores of 1 at 1 min and 1 at 5 min. Iniencephaly is a lethal abnormality which may be diagnosed prenatally with striking ultrasonographic features.

Huge interparietal posterior fontanel meningohydroencephalocele

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Jorge Félix Companioni Rosildo

2015-03-01

Full Text Available Congenital encephalocele is a neural tube defect characterized by a sac-like protrusion of the brain, meninges, and other intracranial structures through the skull, which is caused by an embryonic development abnormality. The most common location is at the occipital bone, and its incidence varies according to different world regions. We report a case of an 1-month and 7-day-old male child with a huge interparietal-posterior fontanel meningohydroencephalocele, a rare occurrence. Physical examination and volumetric computed tomography were diagnostic. The encephalocele was surgically resected. Intradural and extradural approaches were performed; the bone defect was not primarily closed. Two days after surgery, the patient developed hydrocephaly requiring ventriculoperitoneal shunting. The surgical treatment of the meningohydroencephalocele of the interparietal-posterior fontanel may be accompanied by technical challenges and followed by complications due to the presence of large blood vessels under the overlying skin. In these cases, huge sacs herniate through large bone defects including meninges, brain, and blood vessels. The latter present communication with the superior sagittal sinus and ventricular system. A favorable surgical outcome generally follows an accurate strategy taking into account individual features of the lesion.

Congenital Midline Nasal Mass: Four Cases with Review of Literature

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Sambhaji Govind Chintale

2017-12-01

Full Text Available Introduction Congenital midline nasal masses include nasal dermoids, gliomas, encephaloceles. Although rare, these disorders are clinically important because of their potential for connection to the central nervous system. Preoperative knowledge of an intracranial connection is a necessity to allow for neurosurgical consultation and possible planning for craniotomy. This study discusses the clinical presentation of congenital midline nasal mass and the role of imaging modalities like CT scan and MRI in diagnosis and the surgical management. Materials and Methods  This prospective study is carried from March 2014 to March 2016, during which 4 cases presented to the Otorhinolaryngology department. Pre-operative evaluation of the patients included endoscopic evaluation along with haematological investigations, CT Scan and MRI. The masses were removed with nasal endoscopic sinus surgery or by external approaches and neurosurgical intervention. Result The age of the patients ranged from 3 years to 25 years. Three of them were male and one female. There was one case of nasoethmoidal encephalocele and the other three were dermoids (intranasal dermoid cyst, nasal dermoid cyst and nasal dermoid sinus cyst. Conclusion Congenital midline nasal masses are rare. These disorders are clinically important because of their intracranial connection which require proper evaluation with radiological imaging like CT scan and/or MRI before FNAC and any surgical intervention.

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

DEFF Research Database (Denmark)

Barisic, Ingeborg; Boban, Ljubica; Loane, Maria

2015-01-01

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of...... diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.European Journal of Human Genetics advance online publication, 3 September 2014; doi:10.1038/ejhg.2014.174....

Nasal heterotopia versus pilocytic astrocytoma: A narrow border.

Science.gov (United States)

Ellouze, N; Born, J; Hoyoux, C; Michotte, A; Retz, C; Tebache, M; Piette, C

2015-08-01

Failure of the anterior neuropore can lead to three main types of anomalies: nasal dermal sinus, encephalocele and nasal glioma or heterotopia. In this report, we describe a case of intracranial and extracranial glial heterotopia that probably resulted from a common failure of anterior neuropore development. We describe the prenatal radiological assessment based on ultrasound and MRI results, and consider their limitation for early fetal diagnosis. We also discuss the embryogenesis and the possible pathogenic mechanisms involved. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Meckel Gruber syndrome, A case report

Science.gov (United States)

Aslan, Kiper; Külahçı Aslan, Elif; Orhan, Adnan; Atalay, Mehmet Aral

2015-01-01

ABSTRACT. Introduction: Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is caused by the failure of mesodermal induction. The typical triad of Meckel-Gruber Syndrome (MGS) involves meningo-encephalocele, polycystic kidneys and postaxial polydactyly. The worldwide incidence varies from 1 in 1.300 to 1 in 140.000 live births. Case: In this report, we present a case of MGS in which the diagnosis was made at 19 weeks of gestation based on ultrasonographic findings of the typical triad of the disease (encephalocele, polycystic kidneys, and polydactyly) These features were suggestive of the diagnosis of Meckel Gruber Syndrome (MGS). She had also placenta previa totalis. The patient was counselled regarding the lethal outcome of MGS. Unfortunately, the family did not approve the termination of pregnancy. At the 32nd week, she referred to hospital with complaints of vaginal bleeding and uterine contractions. An emergency cesarean section was perfomed due to plasental malposition. A 1380 gr, female fetus was delivered. First and 5th minute Apgar scores were 1 and 0, respectively. Consequently, the baby died after 45 minutes of neonatal resuscitation. Conclusıon: MGS is a lethal disorder. One cannot speak about survival of the fetus because of the pulmonary hypoplasia. The parents should be counseled about prognosis of the fetus and the outcome. Counselers should strictly give information about the recurrence risk for the next pregnancies. PMID:26037304

Spontaneous intracranial hemorrhage and multiple intracranial aneurysms in a patient with Roberts/SC phocomelia syndrome.

Science.gov (United States)

Wang, Anthony C; Gemmete, Joseph J; Keegan, Catherine E; Witt, Cordelie E; Muraszko, Karin M; Than, Khoi D; Maher, Cormac O

2011-11-01

Roberts/SC phocomelia syndrome (RBS) is a rare but distinct genetic disorder with an autosomal recessive inheritance pattern. It has been associated with microcephaly, craniofacial malformation, cavernous hemangioma, encephalocele, and hydrocephalus. There are no previously reported cases of RBS with intracranial aneurysms. The authors report on a patient with a history of RBS who presented with a spontaneous posterior fossa hemorrhage. Multiple small intracranial aneurysms were noted on a preoperative CT angiogram. The patient underwent emergency craniotomy for evacuation of the hemorrhage. A postoperative angiogram confirmed the presence of multiple, distal small intracranial aneurysms.

Radiographic evaluation of 70 patients with absence of the corpus callosum

International Nuclear Information System (INIS)

Byrd, S.E.; Flannery, A.; Osborn, R.E.; Radkowski, M.A.; Naidich, T.P.; Bohan, T.P.

1987-01-01

Absence (agenesis) of the corpus callosum is one of the most common congenital malformations of the brain seen in the pediatric population. The authors used CT, MR imaging, or US to study 70 children with absence of the corpus callosum. Patients were divided into two groups; those with isolated absence of the corpus callosum, and those with other associated brain lesions. The associated brain lesions included interhemispheric arachnoid cyst, Dandy-Walker malformations, encephaloceles, and migrational disorders (heterotopias, schizencephaly, lissencaphaly, septo-optic dysplasia, lipoma, Chiari malformations, and holoprosenscephaly). The clinical presentations and radiologic findings are described

Teratogenic effect of formaldehyde in rabbits

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A. A. Al–Saraj

2009-01-01

Full Text Available Thirty three pregnant rabbits were exposed to vapour of 10% formaldehyde (12 ppm throughout the gestation period to know its effect on newborns. The results showed no abortion or foetal mortality but there were some anomalies (23.8% among the newborns rabbits which includes: meromelia (6.8%, encephalocele (6.1%, Oligodactyly (4.1%, Umbilical hernia (3.4% and Short tail (3.4%; besides that small for date and decrease in the body weight of the newborns were also noticed. These findings suggest that formaldehyde is a teratogenic agent.

Meckel Gruber Syndrome: A Case Report

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Celal Devecioglu

2004-01-01

Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

Nasal encephalocele in a child with Beckwith-Wiedemann syndrome

NARCIS (Netherlands)

Broekman, Marike L. D.; Hoving, Eelco W.; Kho, Kuan H.; Speleman, Lucienne; Sen Han, K.; Hanlo, Patrick W.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. The authors describe, to the best of their knowledge, the first case of a child in whom BWS was diagnosed

Collagen XVIII Mutation in Knobloch Syndrome with Acute Lymphoblastic Leukemia

Science.gov (United States)

Mahajan, Vinit B.; Olney, Ann Haskins; Garrett, Penny; Chary, Ajit; Dragan, Ecaterina; Lerner, Gary; Murray, Jeffrey; Bassuk, Alexander G.

2010-01-01

Knobloch syndrome (KNO) is caused by mutations in the collagen XIII gene (COL18A1) and patients develop encephalocele and vitreoretinal degeneration. Here we report an El Salvadorian family where two sisters showed features of KNO. One of the siblings also developed acute lymphoblastic leukemia. DNA sequencing of COL18A1revealed a homozygous, 2-base pair deletion (c3514-3515delCT) in exon 41, which leads to abnormal collagen XVIII and deficiency of its proteolytic cleavage product endostatin. KNO patients with mutations in COL18A1 may be at risk for endostatin-related conditions including malignancy. PMID:20799329

Uncommon posterior cranial fossa anomalies: MRI with clinical correlation

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Demaerel, P. [Dept. of Radiology, University Hospitals, Leuven (Belgium); Kendall, B.E. [Lysholm Radiological Dept., National Hospital for Neurology and Neurosurgery, London (United Kingdom); Wilms, G. [Dept. of Radiology, University Hospitals, Leuven (Belgium); Halpin, S.F.S. [Lysholm Radiological Dept., National Hospital for Neurology and Neurosurgery, London (United Kingdom); Casaer, P. [Dept. of Paediatrics, University Hospitals, Leuven (Belgium); Baert, A.L. [Dept. of Radiology, University Hospitals, Leuven (Belgium)

1995-01-01

The clinical and MRI findings in two cases of rhombencephalosynapsis (RS) and two of tectocerebellar dysraphia (TCD) with an associated occipital encephalocele were studied to elucidate the clinical picture and embryogenesis of these rare anomalies. To our knowledge, only one case of TCD [1] and four of RS [2, 3] examined by MRI during life have been reported. The clinical picture in the cases of RS was rather constant and there were similarities with TCD. Consideration of the embryogenesis of the neural tube suggests a temporal proximity of the abnormalities, with TCD arising at a slightly earlier time. (orig.)

Bilateral optic disc pit with maculopathy in a patient with cleft lip and cleft palate

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Anisha Seth

2015-01-01

Full Text Available Optic disc pit (ODP is small, gray-white, oval depression found at the optic nerve head. It is a congenital defect that occurs due to imperfect closure of superior edge of the embryonic fissure. Cleft lip and palate are also congenital midline abnormalities occurring due to defect in the fusion of frontonasal prominence, maxillary prominence and mandibular prominence. There is only one case report describing the occurrence of ODP in a young patient with cleft lip and palate who also had basal encephalocele. We describe a 52-year-old patient with congenital cleft lip and palate with bilateral ODP with maculopathy but without any other midline abnormality.

Disorders of migration and sulcation in infants and children: MR spectrum at 1.5 T

International Nuclear Information System (INIS)

Boyer, R.S.; Nixon, G.W.; Smoker, W.R.K.; Harnsberger, H.R.; Osborn, A.G.

1987-01-01

In 750 consecutive high-field-strength (1.5-T) pediatric brain MR imaging studies the authors encountered a fascinating spectrum of developmental anomalies of migration, gyration, and sulcation in 11 patients. Lesions were characterized by disorder anatomy but normal gray-matter signal. MR imaging was excellent in revealing pachygyria, polymicrogyria, agyria (lissencephaly), heterotopia, and schizencephaly, and in displaying associated development anomalies, such as agenesis of the corpus callosum, encephalocele, Chiari II malformation, septo-optic dysplasia, lobar holoprosencephaly, and unilateral megalencephaly. The improved demonstration of gray-matter abnormalities that is possible with high-field-strength MR imaging facilitates recognition of these lesions and associated anomalies

Diagnosis, treatment and long-term outcome in fetal hydrocephalus

International Nuclear Information System (INIS)

Yamasaki, Mami; Nonaka, Masahiro; Bamba, Yohei; Teramoto, Chika; Ban, Chiaki; Pooh, Ritsuko

2011-01-01

The objective of this study was to evaluate the method of prenatally estimating an appropriate clinical outcome in fetal hydrocephalus. Retrospective study, single institute (Osaka National Hospital). Hundred and seventeen cases with fetal hydrocephalus treated at Osaka National Hospital from 1992 to 2010 were analysed. Of the 117 cases analysed, 38% are diagnosed as isolated ventriculomegaly (IVM), 51% as other types of malformation (30 cases of myelomeningocele, 4 cases of holoprosencephaly, 4 of Dandy Walker syndrome, 10 of arachnoid cyst and 6 of encephalocele etc.) and 11% as secondary hydrocephalus. They are diagnosed between 17 and 40 weeks of gestation (average 27 weeks), 17% diagnosed between 17 and 21 weeks, 30% between 22 and 27 weeks and 53% after 28 weeks. With the exception of 9 aborted cases and 30 unknown cases too young to be evaluated or lost due to lack of follow-up, final outcome was analyzed in 78 cases. Of these 78 cases, 15% died in utero or after birth, 23% showed severe retardation, 17% moderate retardation, 26% mild retardation, and 19% showed good outcome. Long term consequences were mostly influenced by basic disease and accompanied anomalies. Hydrocephalus associated with arachnoid cyst, atresia of Monro, corpus callosum agenesis and hydrocephalus due to fetal intracranial hemorrhage are categorized in the good outcome group. On the other hand, holoprosencephaly, hydrocephalus associated with encephalocele, syndromic hydrocephalus and hydrocephalus due to fetal virus infection are categorized in the poor outcome group. In order to accurate diagnosis and proper counseling, establishment of diagnosis protocol and treatment policy for fetal hydrocephalus including not only fetal sonography, fetal MRI, toxoplasma, rubella, cytomegalovirus, herpes simplex (TORCH) screening test but also chromosomal and gene testing is required. (author)

Technique of ICP monitored stepwise intracranial decompression effectively reduces postoperative complications of severe bifrontal contusion

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Guan eSun

2016-04-01

Full Text Available Background Bifrontal contusion is a common clinical brain injury. In the early stage, it is often mild, but it progresses rapidly and frequently worsens suddenly. This condition can become life threatening and therefore requires surgery. Conventional decompression craniectomy is the commonly used treatment method. In this study, the effect of ICP monitored stepwise intracranial decompression surgery on the prognosis of patients with acute severe bifrontal contusion was investigated. Method A total of 136 patients with severe bifrontal contusion combined with deteriorated intracranial hypertension admitted from March 2001 to March 2014 in our hospital were selected and randomly divided into two groups, i.e., a conventional decompression group and an intracranial pressure (ICP monitored stepwise intracranial decompression group (68 patients each, to conduct a retrospective study. The incidence rates of acute intraoperative encephalocele, delayed hematomas, and postoperative cerebral infarctions and the Glasgow outcome scores (GOSs 6 months after the surgery were compared between the two groups.Results (1 The incidence rates of acute encephalocele and contralateral delayed epidural hematoma in the stepwise decompression surgery group were significantly lower than those in the conventional decompression group; the differences were statistically significant (P < 0.05; (2 6 months after the surgery, the incidence of vegetative state and mortality in the stepwise decompression group were significantly lower than those in the conventional decompression group (P < 0.05; the rate of favorable prognosis in the stepwise decompression group was also significantly higher than that in the conventional decompression group (P < 0.05.Conclusions The ICP monitored stepwise intracranial decompression technique reduced the perioperative complications of traumatic brain injury through the gradual release of intracranial pressure and was beneficial to the prognosis of

Risk factors, organ weight deviation and associated anomalies in neural tube defects: A prospective fetal and perinatal autopsy series

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Asaranti Kar

2015-01-01

Full Text Available Introduction: Neural tube defects (NTD are a group of serious birth defects occurring due to defective closure of neural tube during embryonic development. It comprises of anencephaly, encephalocele and spina bifida. We conducted this prospective fetal autopsy series to study the rate and distribution of NTD, analyze the reproductive factors and risk factors, note any associated anomalies and evaluate the organ weights and their deviation from normal. Materials and Methods: This was a prospective study done over a period of 6 years from August, 2007 to July, 2013. All cases of NTDs delivered as abortion, still born and live born were included. The reproductive and risk factors like age, parity, multiple births, previous miscarriage, obesity, diabetes mellitus, socioeconomic status and use of folic acid during pregnancy were collected.Autopsy was performed according to Virchow′s technique. Detail external and internal examination were carried out to detect any associated anomalies. Gross and microscopic examination of organs were done. Results: Out of 210 cases of fetal and perinatal autopsy done, 72 (34.28% had NTD constituting 49 cases of anencephaly, 16 spina bifida and 7 cases of encephalocele. The mothers in these cases predominantly were within 25-29 years (P = 0.02 and primy (P = 0.01. Female sex was more commonly affected than males (M:F = 25:47, P = 0.0005 There was no history of folate use in majority of cases. Organ weight deviations were >2 standard deviation low in most of the cases. Most common associated anomalies were adrenal hypoplasia and thymic hyperplasia. Conclusion: The authors have made an attempt to study NTD cases in respect to maternal reproductive and risk factors and their association with NTD along with the organ weight deviation and associated anomalies. This so far in our knowledge is an innovative study which was not found in literature even after extensive search.

The cephaloceles: A clinical, epidemiological and therapeutic study of 50 cases.

Science.gov (United States)

Kabré, A; Zabsonre, D S; Sanou, A; Bako, Y

2015-08-01

Cephaloceles are congenital malformations characterized by externalization of the meninges and/or brain tissue through a congenital skull bone defect. In developed countries, this malformation is rare but in our developing countries, this pathology remains one of our concerns. To describe the epidemiological, clinical and therapeutic aspects of the cephaloceles. A retrospective study was conducted from 2007 to 2013 on all cases of cephalocele supported in the department of neurosurgery of the Yalgado Ouédraogo University Teaching Hospital of Ouagadougou. The malformations were supplemented by CT scan. All patients were operated. The surgical procedure in cephaloceles of the convexity consisted of a direct approach. Sincipital cephaloceles were operated by transcranial approach or combined approach associating transcranial and transnasal approaches. Fifty patients were gathered during the 7-year period. There were 18 boys and 32 girls. The ages ranged from 1 day to 11 years. The cephaloceles were located on the vault of the skull in 78%; the lesion was sincipital in 22%. The malformation was covered with normal skin in 92%; it was pediculated in 78%. CT scan allowed the classification of cases as meningo-encephaloceles in 31 cases (62%) and meningoceles in 18 cases (36%) and one pure encephalocele. The immediate postoperative course was uneventful in 42 cases (84%); 8 postoperative deaths were recorded. At medium and long term, 4 patients (8%) developed complications of psychomotor deficiency in 3 cases and hydrocephalus in 1 case. The main reasons for the poor prognosis were superinfection, hydrocephalus and/or other brain malformations. Cephaloceles remain relatively frequent in our practice. After surgery, mental failure and hydrocephalus can occur impairing the prognosis. The most suitable solution is a policy of prevention with folic acid treatment before and during pregnancy and following up adequate pregnancies. Copyright © 2015 Elsevier Masson SAS. All

Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects: World Health Organization guidelines.

Science.gov (United States)

Cordero, Amy M; Crider, Krista S; Rogers, Lisa M; Cannon, Michael J; Berry, R J

2015-04-24

Neural tube defects (NTDs) such as spina bifida, anencephaly, and encephalocele are serious birth defects of the brain and spine that occur during the first month of pregnancy when the neural tube fails to close completely. Randomized controlled trials and observational studies have shown that adequate daily consumption of folic acid before and during early pregnancy considerably reduces the risk for NTDs. The U.S. Public Health Service recommends that women capable of becoming pregnant consume 400 µg of folic acid daily for NTD prevention. Furthermore, fortification of staple foods (e.g., wheat flour) with folic acid has decreased folate-sensitive NTD prevalence in multiple settings and is a highly cost-effective intervention.

ENDOSCOPIC ASSISTED APPROACH TOWARDS FRONTONASAL DERMOID CYST/CYST SINUS

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Sharad B

2015-07-01

Full Text Available Nasofrontal masses belong to the group of congenital midface anomalies (CMFA in paediatric age group. The usual list of differential diagnosis for such masses can be narrowed to Frontonasal de rmoid, epidermoid, nasal encephalocele and nasal gliomas. Frontonasal dermoid with patent dermal sinus tract is a rare craniofacial anomaly resulting from the failure of normal embryonic development. Most of patients present in infancy or early childhood. CT, MRI and sinogram together are usually required for definitive diagnosis. Knowledge of embryonic development of nose & anterior skull base is important in understanding the pathologies of Frontonasal masses. Endoscopic ‘key - hole’ approach to these lesio ns via small incision allows better visualization & ensures complete removal.

Spontaneous temporal encephaloceles masked by dual pathology: report of two cases.

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Paleri, V; Watson, C

2001-05-01

Spontaneous temporal meningoencephaloceles are rare entities and diagnostic difficulties can occur. We present two cases whose presentation was atypical and diagnosis delayed by the presence of dual pathology.

Facial duplication: case, review, and embryogenesis.

Science.gov (United States)

Barr, M

1982-04-01

The craniofacial anatomy of an infant with facial duplication is described. There were four eyes, two noses, two maxillae, and one mandible. Anterior to the single pituitary the brain was duplicated and there was bilateral arhinencephaly. Portions of the brain were extruded into a large frontal encephalocele. Cases of symmetrical facial duplication reported in the literature range from two complete faces on a single head (diprosopus) to simple nasal duplication. The variety of patterns of duplication suggests that the doubling of facial components arises in several different ways: Forking of the notochord, duplication of the prosencephalon, duplication of the olfactory placodes, and duplication of maxillary and/or mandibular growth centers around the margins of the stomatodeal plate. Among reported cases, the female:male ratio is 2:1.

Value of amniofetography following ultrasound diagnosis

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Toth, Z; Vachter, J; Csecsei, K; Papp, Z [Orvostudomanyi Egyetem, Debrecen (Hungary). Radiologiai Klinika

1984-08-01

In the course of amniocentesis, the contrast agent injected into the gestational sac disperses evenly in the amniotic fluid. The fat-soluble contrast agent binds to the exterior of the fetus, while the water-soluble one enters the gastrointestinal tract by swallowing. Thus, by means of amniofetography, numerous fetal anomalies can be detected prenatally. Authors describe the technique of the method, its field of indication, and their own experiences in 13 cases. Successful diagnoses were established such as cervical hygrom, myelomeningocele, thanatophor dysplasia, hydrocephalia, anencephalia, iniencephalia, encephalocele, hydrops, omphalocele, oesophageal and intestinal atresia. Amniofetography is indicated when fetal developmental anomaly is suspected, and its type and grade of seriousness, respectively, can not be assessed by means of echography and/or amniocentesis.

The value of amniofetography following ultrasound diagnosis

International Nuclear Information System (INIS)

Toth, Zoltan; Vachter, Janos; Csecsei, Karoly; Papp, Zoltan

1984-01-01

In the course of amniocentesis, the contrast agent injected into the gestational sac disperses evenly in the amniotic fluid. The fat-soluble contrast agent binds to the exterior of the fetus, while the water-soluble one enters the gastrointestinal tract by swallowing. Thus, by means of amniofetography, numerous fetal anomalies can be detected prenatally. Authors describe the technique of the method, its field of indication, and their own experiences in 13 cases. Successful diagnoses were established such as cervical hygrom, myelomeningocele, thanatophor dysplasia, hydrocephalia, anencephalia, iniencephalia, encephalocele, hydrops, omphalocele, oesophageal and intestinal atresia. Amniofetography is indicated when fetal developmental anomaly is suspected, and its type and grade of seriousness, respectively, can not be assessed by means of echography and/or amniocentesis. (author)

Neural Tube Defects and Pregnancy

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Emine Çoşar

2009-09-01

Full Text Available OBJECTIVE: Neural tube defects are congenital malformations those mostly causing life-long morbidities. They are prevented by the periconseptional folic acid usage and prenatal diagnostic methods. MATERIALS-METHODS: Pregnants from Afyonkarahisar and neighbourhood cities applied to our hospital and determined NTD, were investigated. RESULTS: In our obstetrics clinic 1403 delivery were made and 43 of them had fetus with NTD. Among these fetuses 41.3% had meningomyelocel, 17.4% had meningocel, 21.7% had encephalocel, 8.7% had unencephali and 4.3% had iniencephali. CONCLUSION: Incidence of NTD is high in our region and geographic region, nutrition and other socioeconomic factors may be related to the high incidence. Education of the mother and periconceptional folic acid usage may reduce teh incidence of NTD.

Recurrent Posttraumatic Meningitis due to Nontypable Haemophilus influenzae: Case Report and Review of the Literature

DEFF Research Database (Denmark)

Kunze, W; Müller, L; Kilian, Mogens

2007-01-01

We report a case of relapsing Haemophilus influenzae meningitis in a boy at the age of nearly 3 years and 4.2 years who had been successfully vaccinated against H. influenzae serotype b (Hib). The pathogen was a nonencapsulated (nontypable) H. influenzae strain of biotypes III and VI, respectively....... A rhinobasal impalement injury with development of a posttraumatic encephalocele is considered to be the predisposing condition. Review of the literature reveals that in patients systemically infected by nonencapsulated H. influenzae strains predisposing factors such as cerebrospinal fluid-shunts, implants...... and traumas are often found. To obtain further information on potential new disease patterns H. influenzae isolates from cerebrospinal fluid should be examined for capsule production and, if relevant, further characterized by capsular typing....

Perioperative challenges in patients with giant occipital encephalocele with microcephaly and micrognathia

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Hukum Singh

2012-01-01

Full Text Available Meninigo-encepahlocoele (MEC is a common neurosurgical operation. The size of MEC may vary which has bearing with its management. The association of MEC with micrognathia and microcephaly is rarely reported. The association poses special problem for intubation and maintenance of anaesthesia. Giant MEC may lead to significant CSF loss resulting in hemodynamic alteration. The prior knowledge and care in handling the patient can avoid minor as well as major complications.

Trans-sphenoidal encephalocele in association with Dandy-Walker complex and cardiovascular anomalies

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Joy, H.M.; Barker, C.S. [Wessex Neurological Centre, Southampton (United Kingdom); Small, J.H. [Dept. of Radiology, Royal Bournemouth Hospital (United Kingdom); Armitage, M. [Bournemouth Diabetes and Endocrine Centre, Royal Bournemouth Hospital (United Kingdom)

2001-01-01

We present a case of trans-sphenoidal encephalomeningocele in association with a posterior cranial fossa malformation which fulfils the criteria for the Dandy-Walker complex. Congenital cardiovascular defects were also present. An abnormality of neural crest development may be responsible for the combined occurrence of these anomalies. (orig.)

Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009

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Zborovska N.V. Zborovska N.V.

2012-04-01

While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.

Epidemiologic study of neural tube defects in Los Angeles County. I. Prevalence at birth based on multiple sources of case ascertainment

Energy Technology Data Exchange (ETDEWEB)

Sever, L.E. (Pacific Northwest Lab., Richland, WA); Sanders, M.; Monsen, R.

1982-01-01

Epidemiologic studies of the neural tube defects (NTDs), anencephalus and spina bifida, have for the most part been based on single sources of case ascertainment in past studies. The present investigation attempts total ascertainment of NTD cases in the newborn population of Los Angeles County residents for the period 1966 to 1972. Design of the study, sources of data, and estimates of prevalence rates based on single and multiple sources of case ascertainment are here discussed. Anencephalus cases totaled 448, spina bifida 442, and encephalocele 72, giving prevalence rates of 0.52, 0.51, and 0.08 per 1000 total births, respectively, for these neural tube defects - rates considered to be low. The Los Angeles County prevalence rates are compared with those of other recent North American studies and support is provided for earlier suggestions of low rates on the West Coast.

Role of gadolinium in MR imaging of sinonasal masses

International Nuclear Information System (INIS)

Lanzieri, C.F.; Shah, M.; Smith, A.S.; Tarr, R.; Van Dyke, C.; Kaufman, B.; Krauss, D.; Lavertu, P.

1990-01-01

This paper determines whether additional clinically useful information can be obtained with the use of contrast-enhanced MR imaging, compared with nonenhanced MR imaging and enhanced CT, in the evaluation of patients with sinonasal masses. Twenty-one patients with CT evidence of a sinonasal mass were imaged at 1.5 T with T1 and T2 weighting and without and with gadolinium injection. The studies were interpreted independently and correlated with the surgical and pathologic findings. The contrast-enhanced MR images yielded additional clinically useful information in 13 of 21 cases. It was the only way to separate tumor from a mucocele in four of 13 cases. In two of 13 instances, it was the only modality that identified encephalocele as distinct from a tumor. In the remaining seven cases, more accurate delineation of the tumor margins was obtained

Congenital Complete Tracheal Ring in a Neonate: A Case Report

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Esra ARUN ÖZER

2017-09-01

Full Text Available Abnormalities of the upper airway tract lead to congenital high airway obstruction and may complicate neonatal airway management in the delivery room. Congenital complete tracheal rings are a rare and unusual tracheal anomaly, usually presenting in the neonate or infant as respiratory distress. The clinical presentation can vary from almost asymptomatic patients to near-fatal airway obstruction. It may exist as an isolated entity, or in association with other congenital malformations, in particular, cardiac anomalies along with vascular rings and pulmonary slings. Other associated anomalies have also been reported, for example, chromosomal anomalies, malformation of other parts of the respiratory tract, esophagus and skeletal systems. Here, we report an extreme case of VACTERL/TACRD association presented with congenital complete tracheal ring, encephalocele, bilateral radial agenesis with absent thumbs, equinovalgus deformity on right foot, low-set ears and micrognathia.

Pediatric Glial Heterotopia in the Medial Canthus.

Science.gov (United States)

Kim, Soung Min; Amponsah, Emmanuel Kofi; Eo, Mi Young; Cho, Yun Ju; Lee, Suk Keun

2017-11-01

Glial heterotopias are rare, benign, congenital, midline, and nonteratomatous extracranial glial tissue. They may be confused as encephalocele or dermoid cysts and are mostly present in the nose.An 8-month-old African female child presented with a slow growing paranasal mass. The mass had been present at the left upper medial canthus since birth and had slowly and progressively enlarged. There was no communication between the mass and the cranial cavity during the operational procedure. The mass was immunohistochemically positive for S-100 protein as well as for glial fibrillary acidic protein, but negative for proliferating cell nuclear antigen. This suggested that the mass was composed of benign glial tissues with many astrocytes.The purpose of this report is to demonstrate the first patient with pediatric glial heterotopic tissue in the medial canthus and to report the clinical importance of its immunohistochemical findings.

Cataract surgery in Knobloch syndrome: a case report

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Bongiovanni CS

2011-06-01

Full Text Available Carmen Sílvia Bongiovanni1, Carla Cristina Serra Ferreira1, Ana Paula Silvério Rodrigues1, João Borges Fortes Filho2, Márcia Beatriz Tartarella11Department of Ophthalmology, Congenital Cataract Section, Medical School, Federal University of São Paulo, São Paulo; 2Department of Ophthalmology, Medical School, Federal University of Rio Grande do Sul, Porto Alegre, BrazilAbstract: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.Keywords: Knobloch syndrome, cataract, phacoemulsification, vitreous, right eye, left eye, genetic

Magnetic resonance imaging of intraorbital tumors

International Nuclear Information System (INIS)

Inoue, Tooru; Fukui, Masashi; Matsushima, Toshio; Fujii, Kiyotaka; Hasuo, Kanehiro

1991-01-01

Ten cases of histologically confirmed intraorbital tumors were studied with magnetic resonance imaging (MRI). Two meningiomas were nearly isointense on the T 1 -weighted image (T 1 WI) and the T 2 -weighted image (T 2 WI) relative on the cerebral cortex. The hemangiopericytoma, lacrimal gland tumor, optic glioma, and encephalocele were hypointense on the T 1 WI. The pseudotumor was hypoisointense on both the T 1 WI and the T 2 WI. The metastatic tumor (prostatic carcinoma) was hyperintense on both the T 1 WI and the T 2 WI. Gd-DTPA MRI was performed in five cases. The anatomical relationships between the tumor and the orbital tissue could be discriminated well by means of the coronal and sagittal views. MRI is thus found to be useful for the preoperative diagnosis of the intraorbital tumor and the selection of the surgical approach. (author)

Thanatophoric dysplasia type II with encephalocele and aortic hypoplasia diagnosed in an anatomical specimen

NARCIS (Netherlands)

Jap-A-Joe, Simone M. E. A. A.; Oostra, Roelof-Jan; Maas, Mario; Stoker, Jaap; van der Horst, Chantal M. A. M.

2003-01-01

A hitherto unknown combination of congenital anomalies was found in an anatomical specimen of a female neonate. External examination and additional CT and MRI studies showed thanatophoric dysplasia type II with cloverleaf skull and concomitant parietal meningoencephalocele and hypoplasia of the

Meckel-Gruber Syndrome: Autopsy Based Approach to Diagnosis

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Asaranti Kar

2016-01-01

Full Text Available Meckel-Gruber syndrome (MGS is a rare lethal congenital malformation affecting 1 in 13,250-140,000 live births. The classical diagnostic triad comprises multicystic dysplastic kidneys, occipital encephalocele, and postaxial polydactyly. It can variably be associated with other malformations such as cleft lip and palate, pulmonary hypoplasia, hepatic fibrosis, and anomalies of central nervous system. A 20 weeks fetus was diagnosed as MGS with classical features along with many other congenital abnormalities such as microcephaly, microphthalmia, hypertelorism, cleft lip and palate, neonatal teeth, and the right side club foot which were detected only after doing autopsy. This case is reported because of its rarity emphasizing the importance of neonatal autopsy in every case of fetal death, especially where the antenatal diagnosis has not been made previously. A systematic approach to accurate diagnosis of MGS based on autopsy will be described here which can allow recurrence risk counseling and proper management in future pregnancies.

Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.

Science.gov (United States)

Tully, Hannah M; Ishak, Gisele E; Rue, Tessa C; Dempsey, Jennifer C; Browd, Samuel R; Millen, Kathleen J; Doherty, Dan; Dobyns, William B

2016-03-01

Few systematic assessments of developmental forms of hydrocephalus exist. We reviewed magnetic resonance images (MRIs) and clinical records of patients with infancy-onset hydrocephalus. Among 411 infants, 236 had hydrocephalus with no recognizable extrinsic cause. These children were assigned to 1 of 5 subtypes and compared on the basis of clinical characteristics and developmental and surgical outcomes. At an average age of 5.3 years, 72% of children were walking independently and 87% could eat by mouth; in addition, 18% had epilepsy. Distinct patterns of associated malformations and syndromes were observed within each subtype. On average, children with aqueductal obstruction, cysts, and encephaloceles had worse clinical outcomes than those with other forms of developmental hydrocephalus. Overall, 53% of surgically treated patients experienced at least 1 shunt failure, but hydrocephalus associated with posterior fossa crowding required fewer shunt revisions. We conclude that each subtype of developmental hydrocephalus is associated with distinct clinical characteristics, syndromology, and outcomes, suggesting differences in underlying mechanisms. © The Author(s) 2015.

236 children with developmental hydrocephalus: causes and clinical consequences

Science.gov (United States)

Tully, Hannah M; Ishak, Gisele E; Rue, Tessa C; Dempsey, Jennifer C; Browd, Samuel R; Millen, Kathleen J; Doherty, Dan; Dobyns, William B

2016-01-01

Few systematic assessments of developmental forms of hydrocephalus exist. We reviewed MRIs and clinical records of patients with infancy-onset hydrocephalus. Among 411 infants, 236 had hydrocephalus with no recognizable extrinsic cause. These children were assigned to one of five subtypes and compared on the basis of clinical characteristics, developmental and surgical outcomes. At an average age of 5.3 years, 72% of children were walking independently and 87% could eat by mouth. 18% had epilepsy. Distinct patterns of associated malformations and syndromes were observed within each subtype. On average, children with aqueductal obstruction, cysts and encephaloceles had worse clinical outcomes than those with other forms of developmental hydrocephalus. 53% of surgically-treated patients experienced at least one shunt failure, but hydrocephalus associated with posterior fossa crowding required fewer shunt revisions. We conclude that each subtype of developmental hydrocephalus is associated with distinct clinical characteristics, syndromology, and outcomes, suggesting differences in underlying mechanisms. PMID:26184484

Encefalomenigocele atrésico parietal Parietal atresic encephalomeningocele

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Liliana Rivera Oliva

2011-09-01

Full Text Available El encefalocele es una anomalía congénita rara, en la que una porción del encéfalo protruye a través de un orificio craneal (evaginación, generalmente situado en la línea media. Clínicamente se caracteriza por una masa epicraneal, de consistencia blanda, muchas veces acompañada de trastornos psicomotores, convulsiones y trastornos de la visión. Se presenta el caso de un recién nacido con diagnóstico de encefalomeningocele atrésico parietal, intervenido quirúrgicamente y con evolución satisfactoria.The encephalocele is a uncommon congenital anomaly where a portion of encephalon protrudes through a cranial orifice (evagination, generally located in the middle line. Clinically, it is characterized by a soft epicranial mass often accompanied or psychomotor disorders, convulsions and vision disorders. This is the case of a newborn diagnosed with parietal atresic encephalomeningocele operated on with a satisfactory evolution.

Magnetic resonance imaging of intraorbital tumors

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Inoue, Tooru; Fukui, Masashi; Matsushima, Toshio; Fujii, Kiyotaka; Hasuo, Kanehiro (Kyushu Univ., Fukuoka (Japan). Faculty of Medicine)

1991-12-01

Ten cases of histologically confirmed intraorbital tumors were studied with magnetic resonance imaging (MRI). Two meningiomas were nearly isointense on the T[sub 1]-weighted image (T[sub 1]WI) and the T[sub 2]-weighted image (T[sub 2]WI) relative on the cerebral cortex. The hemangiopericytoma, lacrimal gland tumor, optic glioma, and encephalocele were hypointense on the T[sub 1]WI. The pseudotumor was hypoisointense on both the T[sub 1]WI and the T[sub 2]WI. The metastatic tumor (prostatic carcinoma) was hyperintense on both the T[sub 1]WI and the T[sub 2]WI. Gd-DTPA MRI was performed in five cases. The anatomical relationships between the tumor and the orbital tissue could be discriminated well by means of the coronal and sagittal views. MRI is thus found to be useful for the preoperative diagnosis of the intraorbital tumor and the selection of the surgical approach. (author).

Neural tube defects – recent advances, unsolved questions and controversies

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Copp, Andrew J.; Stanier, Philip; Greene, Nicholas D. E.

2014-01-01

Neural tube defects (NTDs) are severe congenital malformations affecting around 1 in every 1000 pregnancies. Here we review recent advances and currently unsolved issues in the NTD field. An innovation in clinical management has come from the demonstration that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention by folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in UK. Genetic predisposition comprises the majority of NTD risk, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but study of mouse NTD models shows that anencephaly, open spina bifida and craniorachischisis result from failure of primary neurulation, while skin-covered spinal dysraphism results from defective secondary neurulation. Other ‘NTD’ malformations, such as encephalocele, are likely to be post-neurulation disorders. PMID:23790957

Neuroembryology and functional anatomy of craniofacial clefts

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Ewings Ember

2009-10-01

Full Text Available The master plan of all vertebrate embryos is based on neuroanatomy. The embryo can be anatomically divided into discrete units called neuromeres so that each carries unique genetic traits. Embryonic neural crest cells arising from each neuromere induce development of nerves and concomitant arteries and support the development of specific craniofacial tissues or developmental fields. Fields are assembled upon each other in a programmed spatiotemporal order. Abnormalities in one field can affect the shape and position of developing adjacent fields. Craniofacial clefts represent states of excess or deficiency within and between specific developmental fields. The neuromeric organization of the embryo is the common denominator for understanding normal anatomy and pathology of the head and neck. Tessier′s observational cleft classification system can be redefined using neuroanatomic embryology. Reassessment of Tessier′s empiric observations demonstrates a more rational rearrangement of cleft zones, particularly near the midline. Neuromeric theory is also a means to understand and define other common craniofacial problems. Cleft palate, encephaloceles, craniosynostosis and cranial base defects may be analyzed in the same way.

Melatonin prevents neural tube defects in the offspring of diabetic pregnancy.

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Liu, Shangming; Guo, Yuji; Yuan, Qiuhuan; Pan, Yan; Wang, Liyan; Liu, Qian; Wang, Fuwu; Wang, Jingjing; Hao, Aijun

2015-11-01

Melatonin, an endogenous neurohormone secreted by the pineal gland, has a variety of physiological functions and neuroprotective effects. However, its protective role on the neural tube defects (NTDs) was not very clear. The aim of this study was to investigate the effects of melatonin on the incidence of NTDs (including anencephaly, encephalocele, and spina bifida) of offspring from diabetic pregnant mice as well as its underlying mechanisms. Pregnant mice were given 10 mg/kg melatonin by daily i.p. injection from embryonic day (E) 0.5 until being killed on E11.5. Here, we showed that melatonin decreased the NTDs (especially exencephaly) rate of embryos exposed to maternal diabetes. Melatonin stimulated proliferation of neural stem cells (NSCs) under hyperglycemic condition through the extracellular regulated protein kinases (ERK) pathway. Furthermore, as a direct free radical scavenger, melatonin decreased apoptosis of NSCs exposed to hyperglycemia. In the light of these findings, it suggests that melatonin supplementation may play an important role in the prevention of neural malformations in diabetic pregnancy. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Augmented Indian hedgehog signaling in cranial neural crest cells leads to craniofacial abnormalities and dysplastic temporomandibular joint in mice.

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Yang, Ling; Gu, Shuping; Ye, Wenduo; Song, Yingnan; Chen, YiPing

2016-04-01

Extensive studies have pinpointed the crucial role of Indian hedgehog (Ihh) signaling in the development of the appendicular skeleton and the essential function of Ihh in the formation of the temporomandibular joint (TMJ). In this study, we have investigated the effect of augmented Ihh signaling in TMJ development. We took a transgenic gain-of-function approach by overexpressing Ihh in the cranial neural crest (CNC) cells using a conditional Ihh transgenic allele and the Wnt1-Cre allele. We found that Wnt1-Cre-mediated tissue-specific overexpression of Ihh in the CNC lineage caused severe craniofacial abnormalities, including cleft lip/palate, encephalocele, anophthalmos, micrognathia, and defective TMJ development. In the mutant TMJ, the glenoid fossa was completely absent, whereas the condyle and the articular disc appeared relatively normal with slightly delayed chondrocyte differentiation. Our findings thus demonstrate that augmented Ihh signaling is detrimental to craniofacial development, and that finely tuned Ihh signaling is critical for TMJ formation. Our results also provide additional evidence that the development of the condyle and articular disc is independent of the glenoid fossa.

Meningomyelocele Repair in a Premature Newborn with Hydrocephalus: Anaesthetic Confronts and Management

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Sandhya Ghodke

2017-07-01

Full Text Available Deficit of neural tube closure in the initial phases of intrauterine development leads to a gamut of abnormalities ranging from spina-bifida occulta, a relatively benign condition, to encephalocele and meningomyelocele, an anomaly in vertebral bodies, spinal cord and sometimes involving brainstem (in cervical meningomyelocele. Meningomyelocele is the most common nonlethal malformation in the spectrum of neural tube deficits. The intrinsic challenges associated with the latter disorder warrants tailor-made approaches for providing anaesthesia to the requisite therapeutic surgical interventions. Pediatric patients pose a set of natural barriers because of their ever budding and maturing neurophysiological status, apart from the central neural disease process. Hence, in order to provide optimal neuro-anaesthetic care, the anaesthesiologist must have the knowledge of the outcomes of various pharmacologic interventions on cerebral aerodynamics apart from his professional experience in pediatric neuroanaesthesia. The current case report accounts for a challenging anaesthetic management in a premature newborn having hydrocephalus and lumbosacral meningomyelocele, presented for surgical repair within four hours of delivery.

Mutations in collagen 18A1 (COL18A1 and their relevance to the human phenotype

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Passos-Bueno Maria Rita

2006-01-01

Full Text Available Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs. There are three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue and developmental expression. Cleavage of its C-terminal produces endostatin, an inhibitor of angiogenesis. In its N-terminal, there is a frizzled motif which seems to be involved in Wnt signaling. Mutations in this gene cause Knobloch syndrome KS, an autosomal recessive disorder characterized by vitreoretinal and macular degeneration and occipital encephalocele. This review discusses the effect of both rare and polymorphic alleles in the human phenotype, showing that deficiency of one of the collagen XVIII isoforms is sufficient to cause KS and that null alleles causing deficiency of all collagen XVIII isoforms are associated with a more severe ocular defect. This review besides illustrating the functional importance of collagen XVIII in eye development and its structure maintenance throughout life, it also shows its role in other tissues and organs, such as nervous system and kidney.

Encephalocoele-- epidemiological variance in New Zealand.

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Monteith, Stephen J; Heppner, Peter A; Law, Andrew J J

2005-06-01

Considerable variation in the epidemiology of encephalocoeles throughout the world has been described in previous studies. We analysed 46 cases of encephalocoele presenting to Auckland and Starship Children's Hospital over the last 25 years to determine if our experience differed from that seen in a typical Western population, and to determine if there was variation between the different racial groups within New Zealand. The overall incidence of encephalocoeles in the area serviced by the neurosurgical services of Auckland and Starship Children's Hospitals was 1 in 13,418 births. This rate is at the higher end of the incidence spectrum compared with previous series. Overall, New Zealand appears to demonstrate a typical Western distribution of encephalocoele location. In people of Pacific Island descent, both the rate of encephaloceles (1 per 8,873 births) and the percentage of sincipital lesions (44%) differed from the rest of the population. Additionally, a higher than expected proportion of sincipital encephalocoeles was seen in male babies (5:1 male to female ratio). In most other regards our population resembles that of western cohorts published in the literature.

Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature.

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Manjila, Sunil; Miller, Erin A; Vadera, Sumeet; Goel, Rishi K; Khan, Fahd R; Crowe, Carol; Geertman, Robert T

2012-01-01

Duplication of the pituitary gland (DPG) is a rare craniofacial developmental anomaly occurring during blastogenesis with postulated etiology such as incomplete twinning, teratogens, median cleft face syndrome or splitting of the notochord. The complex craniocaudal spectrum of blastogenesis defects associated with DPG is examined with an illustrative case. We report for the first time in the medical literature some unique associations with DPG, such as a clival encephalocele, third cerebral peduncle, duplicate odontoid process and a double tongue with independent volitional control. This patient also has the previously reported common associations such as duplicated sella, cleft palate, hypertelorism, callosal agenesis, hypothalamic enlargement, nasopharyngeal teratoma, fenestrated basilar artery and supernumerary teeth. This study also reviews 37 cases of DPG identified through MEDLINE literature search from 1880 to 2011. It provides a detailed analysis of the current case through physical examination and imaging. The authors propose that the developmental deformities associated with duplication of pituitary gland (DPG) occur as part of a developmental continuum, not as chance associations. Considering the fact that DPG is uniquely and certainly present throughout the spectrum of these blastogenesis defects, we suggest the term DPG-plus syndrome.

Imaging review of cerebrospinal fluid leaks.

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Vemuri, Naga V; Karanam, Lakshmi S P; Manchikanti, Venkatesh; Dandamudi, Srinivas; Puvvada, Sampath K; Vemuri, Vineet K

2017-01-01

Cerebrospinal fluid (CSF) leak occurs due to a defect in the dura and skull base. Trauma remains the most common cause of CSF leak; however, a significant number of cases are iatrogenic, and result from a complication of functional endoscopic sinus surgery (FESS). Early diagnosis of CSF leak is of paramount importance to prevent life-threatening complications such as brain abscess and meningitis. Imaging plays a crucial role in the detection and characterization of CSF leaks. Three-dimensional, isotropic, high resolution computed tomography (HRCT) accurately detects the site and size of the bony defect. CT cisternography, though invasive, helps accurately identify the site of CSF leak, especially in the presence of multiple bony defects. Magnetic resonance imaging (MRI) accurately detects CSF leaks and associated complications such as the encephaloceles and meningoceles. In this review, we emphasize the importance and usefulness of 3D T2 DRIVE MR cisternography in localizing CSF leaks. This sequence has the advantages of effective bone and fat suppression, decreased artefacts, faster acquisition times, three-dimensional capability, y and high spatial resolution in addition to providing very bright signal from the CSF.

Imaging review of cerebrospinal fluid leaks

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Naga V Vemuri

2017-01-01

Full Text Available Cerebrospinal fluid (CSF leak occurs due to a defect in the dura and skull base. Trauma remains the most common cause of CSF leak; however, a significant number of cases are iatrogenic, and result from a complication of functional endoscopic sinus surgery (FESS. Early diagnosis of CSF leak is of paramount importance to prevent life-threatening complications such as brain abscess and meningitis. Imaging plays a crucial role in the detection and characterization of CSF leaks. Three-dimensional, isotropic, high resolution computed tomography (HRCT accurately detects the site and size of the bony defect. CT cisternography, though invasive, helps accurately identify the site of CSF leak, especially in the presence of multiple bony defects. Magnetic resonance imaging (MRI accurately detects CSF leaks and associated complications such as the encephaloceles and meningoceles. In this review, we emphasize the importance and usefulness of 3D T2 DRIVE MR cisternography in localizing CSF leaks. This sequence has the advantages of effective bone and fat suppression, decreased artefacts, faster acquisition times, three-dimensional capability, y and high spatial resolution in addition to providing very bright signal from the CSF.

A Reliable and Reproducible Model for Assessing the Effect of Different Concentrations of α-Solanine on Rat Bone Marrow Mesenchymal Stem Cells

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Adriana Ordóñez-Vásquez

2017-01-01

Full Text Available Αlpha-solanine (α-solanine is a glycoalkaloid present in potato (Solanum tuberosum. It has been of particular interest because of its toxicity and potential teratogenic effects that include abnormalities of the central nervous system, such as exencephaly, encephalocele, and anophthalmia. Various types of cell culture have been used as experimental models to determine the effect of α-solanine on cell physiology. The morphological changes in the mesenchymal stem cell upon exposure to α-solanine have not been established. This study aimed to describe a reliable and reproducible model for assessing the structural changes induced by exposure of mouse bone marrow mesenchymal stem cells (MSCs to different concentrations of α-solanine for 24 h. The results demonstrate that nonlethal concentrations of α-solanine (2–6 μM changed the morphology of the cells, including an increase in the number of nucleoli, suggesting elevated protein synthesis, and the formation of spicules. In addition, treatment with α-solanine reduced the number of adherent cells and the formation of colonies in culture. Immunophenotypic characterization and staining of MSCs are proposed as a reproducible method that allows description of cells exposed to the glycoalkaloid, α-solanine.

Postoperative follow-up study of craniosynostosis using three-dimensional surface reconstruction CT (3D-CT)

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Nishimoto, Hiroshi; Tsukiyama, Takashi; Nishimura, Jiro; Fujioka, Mutsuhisa; Tsubokawa, Takashi.

1988-12-01

In 1983, Michael W. Vannier and Jeffrey L. Marsh developed a computer method that reconstructs three-dimensional images from high-resolution CT-scan series of the facial skeleton. This method has been applied to craniofacial anomalies, basal encephalocele, and other skeletal pathologies. In this study, the postoperative assessment of craniofacial surgical results has been accomplished using 3D-CT techniques in craniosynostosis. The results are as follows: (1) Postoperative 3D-CTs reveal the bony anatomical details corrected by the craniofacial surgery more precisely and more stereographically than do conventional radiological techniques. (2) Secondary changes in the cranium after the surgery, such as reossification at the area of osteotomies or postoperative asymmetric skull deformities, are more early detected by the 3D-CT imaging technique than by a craniogram. (3) In 3D-CT images, internal views of the skull, such mid-sagittal, rear internal, or top axial views of the intracranial skull base, are most useful in postoperative assessments of the surgical results and of postoperative secondary changes in the cranium. Based on our experience, we expect that 3D-CT imaging techniques will become more important in the management of craniosynostosis.

Postoperative follow-up study of craniosynostosis using three-dimensional surface reconstruction CT (3D-CT)

International Nuclear Information System (INIS)

Nishimoto, Hiroshi; Tsukiyama, Takashi; Nishimura, Jiro; Fujioka, Mutsuhisa; Tsubokawa, Takashi.

1988-01-01

In 1983, Michael W. Vannier and Jeffrey L. Marsh developed a computer method that reconstructs three-dimensional images from high-resolution CT-scan series of the facial skeleton. This method has been applied to craniofacial anomalies, basal encephalocele, and other skeletal pathologies. In this study, the postoperative assessment of craniofacial surgical results has been accomplished using 3D-CT techniques in craniosynostosis. The results are as follows: 1) Postoperative 3D-CTs reveal the bony anatomical details corrected by the craniofacial surgery more precisely and more stereographically than do conventional radiological techniques. 2) Secondary changes in the cranium after the surgery, such as reossification at the area of osteotomies or postoperative asymmetric skull deformities, are more early detected by the 3D-CT imaging technique than by a craniogram. 3) In 3D-CT images, internal views of the skull, such mid-sagittal, rear internal, or top axial views of the intracranial skull base, are most useful in postoperative assessments of the surgical results and of postoperative secondary changes in the cranium. Based on our experience, we expect that 3D-CT imaging techniques will become more important in the management of craniosynostosis. (author)

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

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Olney, R S; Hoyme, H E; Roche, F; Ferguson, K; Hintz, S; Madan, A

2001-11-01

Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia. Copyright 2001 Wiley-Liss, Inc.

[Difficulties of the methods for studying environmental exposure and neural tube defects].

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Borja-Aburto, V H; Bermúdez-Castro, O; Lacasaña-Navarro, M; Kuri, P; Bustamante-Montes, P; Torres-Meza, V

1999-01-01

To discuss the attitudes in the assessment of environmental exposures as risk factors associated with neural tube defects, and to present the main risk factors studied to date. Environmental exposures have been suggested to have a roll in the genesis of birth defects. However, studies conducted in human populations have found difficulties in the design and conduction to show such an association for neural tube defects (anencephaly, espina bifida and encephalocele) because of problems raised from: a) the frequency measures used to compare time trends and communities, b) the classification of heterogeneous malformations, c) the inclusion of maternal, paternal and fetal factors as an integrated process and, d) the assessment of environmental exposures. Hypothetically both maternal and paternal environmental exposures can produce damage before and after conception by direct action on the embryo and the fetus-placenta complex. Therefore, in the assessment of environmental exposures we need to take into account: a) both paternal and maternal exposures; b) the critical exposure period, three months before conception for paternal exposures and one month around the conceptional period for maternal exposures; c) quantitatively evaluate environmental exposures when possible, avoiding a dichotomous classification; d) the use of biological markers of exposure is highly recommended as well as markers of genetic susceptibility.

Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome

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Natsuko Mano

2015-06-01

Full Text Available Purpose: Walker-Warburg syndrome (WWS is a type of congenital muscular dystrophy (CMD characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities. Despite the coexistence of various eye abnormalities, results from optical coherence tomography (OCT in WWS have not previously been reported. We herein report specific OCT findings in an infant with WWS. Patients and Methods: The patient was a 14-day-old boy delivered by caesarean section at 38 weeks and 4 days of gestation and with a birth weight of 2,543 g. A cranial MRI showed lissencephaly, hydrocephalus, an encephalocele, and cerebellar hypoplasia, consistent with the diagnosis of WWS. Results: A bilateral ocular examination showed no abnormalities of the anterior eye segment. A fundus examination showed a persistent hyaloid artery in the vitreous cavity, a widespread loss of fundus pigmentation, transparent choroidal vessels (some choroidal vessel sections were visible, and the absence of a distinct macular reflex. OCT showed no foveal pit and an indistinct laminar structure of the retina. The infant subsequently developed congenital glaucoma and he then died of respiratory failure at the age of 8 months. Conclusions: WWS is associated with a high incidence of congenital eye abnormalities, and this infant showed findings consistent with WWS. OCT revealed a marked retinal dysplasia.

Giant Atretic Occipital Lipoencephalocele in an Adult with Bony Outgrowth.

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Nimkar, Kshama; Sood, Dinesh; Soni, Pawan; Chauhan, Narvir; Surya, Mukesh

2016-01-01

We present unique case of a giant extracranial atretic occipital lipoencephalocele in an adult patient with new bone formation within it which was not associated with any developmental malformation of brain. Resection of the lipoencephalocele was performed for esthetic reasons. 18 year old female patient presented to the surgery OPD with complains of a large mass in the occipital region present since birth. It was of size of a betel nut at the time of birth and gradually increased in size over a long period of time. It was painless and not associated with any other constitutional symptoms. On examination the rounded fluctuant mass was present in the midline in occipital region covered with alopecic skin with dimpling in the overlying skin. On MRI there was mass showing both T1 and T2 hyperintense signal area suggestive of fat component. Herniation of meninges and atretic brain parenchyma was also seen through a defect in the occipital bone in the midline. There was a Y shaped bony outgrowth seen arising from occipital bone into the mass which was quite unusual in association with an atretic lipoencephalocele. A large lipoencephalocele with bony outgrowth in an adult patient is a rare presentation of atreic occipital encephalocele.

Postoperative assessment of surgical results using three dimensional surface reconstruction CT (3D-CT) in a craniofacial anomaly

International Nuclear Information System (INIS)

Nishimura, Jiro; Sato, Kaoru; Nishimoto, Hiroshi; Tsukiyama, Takashi; Fujioka, Mutsuhisa; Akagawa, Tetsuya.

1988-01-01

In 1983, Michael W. Vannier and Jeffrey L. Marsh developed a computer method that reconstructs three dimensional (3D) born and soft tissue surfaces, given a high resolution CT scan-series of the facial skeleton. This method has been applied to craniofacial anomalies, basal encephaloceles, and musculoskeletal anomalies. In this study, a postoperative assessment of the craniofacial surgical results has been accomplished using this 3D-CT in 2 children with craniofacial dysmorphism. The authors discuss the advantages of this 3D-CT imaging method in the postoperative assessments of craniofacial anomalies. Results are detailed in the following listing : 1) a postoperative 3D-CT reveals the anatomical details corrected by the craniofacial surgery more precisely and stereographically than conventional radiological methods ; 2) secondary changes of the cranium after the surgery, such as bony formation in the area of the osteotomy and postoperative asymmetric deformities, are detected early by the 3D-CT imaging technique, and, 3) 3D-CT mid-sagittal and top axial views of the intracranial skull base are most useful in postoperative assessments of the surgical results. Basesd on our experience, we expect that three dimensional surface reconstructions from CT scans will become to be used widely in the postoperative assessments of the surgical results of craniofacial anomalies. (author)

Fetal central nervous system anomalies: fast MRI vs ultrasonography

International Nuclear Information System (INIS)

Yang Wenzhong; Xia Liming; Yang Minjie; Feng Dingyi; Hu Junwu; Zou Mingli; Wang Chengyuan; Chen Xinlin; Yang Xiaohong

2006-01-01

Objective: To evaluate the ability of fast MRI to detect fetal central nervous system (CNS) anomalies and to compare its performance with that of prenatal ultrasonography (US). Methods Forty-eight pregnant women were detected by conventional prenatal US and MRI. Twenty-two fetuses with CNS anomalies were conformed by autopsy and follow-up. The MR and US appearances of fetal CNS structure were compared to each other and to that of autopsy. Results: A total of 26 CNS anomalies were identified by autopsy (n=17) and follow-up (n=9) including anencephaly (n=6), rachischisis (n=2), encephalocele (n=3), congenital hydrocephalus (n=7), alobar holoprosencephaly (n=1), porencephalia (n=3), arachnoid cyst (n=2) and choroids plexus cyst (n=2). US diagnosed 24 CNS anomalies, the correct diagnostic rate was 92.3%, the false-positive rate was 3.8%, the missed-diagnostic rate was 3.8%. MRI diagnosed 23 CNS anomalies, the correct-diagnostic rate was 88.5%, the false-positive rate was 3.8% ,the missed-diagnostic rate was 7.7%. There was no difference between US and MRI (P>0.05), but MRI have larger FOV, higher tissues resolution, and can demonstrate gray-white matter in detail. Conclusions: MR imaging has a similar sensitivity to that of US in the detection of fetal CNS anomalies. (authors)

Cranialization of the frontal sinus for secondary mucocele prevention following open surgery for benign frontal lesions.

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Gilad Horowitz

Full Text Available OBJECTIVE: To compare frontal sinus cranialization to obliteration for future prevention of secondary mucocele formation following open surgery for benign lesions of the frontal sinus. STUDY DESIGN: Retrospective case series. SETTING: Tertiary academic medical center. PATIENTS: Sixty-nine patients operated for benign frontal sinus pathology between 1994 and 2011. INTERVENTIONS: Open excision of benign frontal sinus pathology followed by either frontal obliteration (n = 41, 59% or frontal cranialization (n = 28, 41%. MAIN OUTCOME MEASURES: The prevalence of post-surgical complications and secondary mucocele formation were compiled. RESULTS: Pathologies included osteoma (n = 34, 49%, mucocele (n = 27, 39%, fibrous dysplasia (n = 6, 9%, and encephalocele (n = 2, 3%. Complications included skin infections (n = 6, postoperative cutaneous fistula (n = 1, telecanthus (n = 4, diplopia (n = 3, nasal deformity (n = 2 and epiphora (n = 1. None of the patients suffered from postoperative CSF leak, meningitis or pneumocephalus. Six patients, all of whom had previously undergone frontal sinus obliteration, required revision surgery due to secondary mucocele formation. Statistical analysis using non-inferiority test reveal that cranialization of the frontal sinus is non-inferior to obliteration for preventing secondary mucocele formation (P<0.0001. CONCLUSION: Cranialization of the frontal sinus appears to be a good option for prevention of secondary mucocele development after open excision of benign frontal sinus lesions.

Maternal Antenatal Bereavement and Neural Tube Defect in Live-Born Offspring: A Cohort Study.

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Katja Glejsted Ingstrup

Full Text Available Maternal emotional stress during pregnancy has previously been associated with congenital neural malformations, but most studies are based on data collected retrospectively. The objective of our study was to investigate associations between antenatal maternal bereavement due to death of a close relative and neural tube defects (NTDs in the offspring.We performed a register-based cohort study including all live-born children (N = 1,734,190 from 1978-2008. Exposure was bereavement due to loss of a close relative from one year before conception to the end of the first trimester of pregnancy. The outcome was NTDs in the offspring according to the International Classification of Disease. We used multivariate logistic regression to estimate prevalence odds ratios (ORs.A total of 2% children were born to mothers who lost a close relative prenatally. During 30 years of follow-up, 1,115 children were diagnosed with any NTDs: spina bifida (n = 889, anencephaly (n = 85 and encephalocele (n = 164. And 23 children were diagnosed with two types of NTDs. Overall, when comparing bereaved mothers to non-bereaved mothers, no significant increased prevalence of NTDs in the offspring was seen (OR = 0.84; 95% confidence interval: 0.52-1.33.Overall maternal bereavement in the antenatal period was not related to NTDs in liveborn offspring.

Craniofacial abnormalities among patients with Edwards Syndrome

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Rafael Fabiano M. Rosa

2013-09-01

Full Text Available OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES. METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%. Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%, abnormalities of the ear helix/dysplastic ears (70%, prominent occiput (52%, posteriorly rotated (46% and low set ears (44%, and short palpebral fissures/blepharophimosis (46%. Other uncommon - but relevant - abnormalities included: microtia (18%, orofacial clefts (12%, preauricular tags (10%, facial palsy (4%, encephalocele (4%, absence of external auditory canal (2% and asymmetric face (2%. One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature.

The evaluation of cases with pneumothorax in the neonatal intensive care unit

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Müsemma Karabel

2013-09-01

Full Text Available Objectives: Early diagnosis and treatment is essentialin reducing mortality in newborns with pneumothorax. Inthis study, newborns with a diagnosis of pneumothorax inneonatal intensive care unit of our hospital were evaluatedand aimed to increase the awareness of physicians.Methods: 12 cases with pneumothorax were evaluatedretrospectively. The gender, birth weight, gestational age,mode of delivery, the presence of underlying disease,pneumothorax localization, implementation of the surfactantand mechanical ventilation and existence or absenceof mortality were recorded.Results: During the study, pneumothorax was detected12 patients. Male/female ratio was 1.4. Eight of the patientshad born with cesarean delivery, the mean birthweight of cases was 2623±912 g and, 66.7% of caseswere term babies. Pneumothorax was observed in thefirst week of life in all patients and it occurred spontaneouslyin 4 patients. The frequency of bilateral pneumothoraxwas 41.7%. For the treatment, closed tube drainagewas performed in 9 patients. The overall mortality ratewas 66.7%. Half of the patients who died had congenitalanomalies such as diaphragmatic eventration (n=1,hydrocephalus (n=1, encephalocel (n=1, non-immunehydrops fetalis (n=1.Conclusion: Additional congenital anomalies, such asPDAs and persistent pulmonary hypertension were foundto be effective on mortality in neonates with pneumothorax.Although, it is a life-threatening condition, the emergencytreatment is life saving. Therefore, in patients withrisk factors, keeping pneumothorax in mind is also thefirst step of the treatment. J Clin Exp Invest 2013; 4 (3:289-292Key words: Newborn, respiratuar distress, pneumothorax,treatment, outcome

Cerebral hemodynamics and functional prognosis in hydrocephalus

International Nuclear Information System (INIS)

Hirai, Osamu; Nishikawa, Michio; Watanabe, Shu; Yamakawa, Hiroyasu; Kinoshita, Yoshimasa; Uno, Akira; Handa, Hajime

1989-01-01

The functional outcome of cerebral hemodynamics in the chronic stage of juvenile hydrocephalus was determined using single photon emission computed tomography (SPECT). Five patients including three with aqueductal stenosis, one with post-meningitic hydrocephalus, and one case with hydrocephalus having developed after repair of a huge occipital encephalocele. Early images of cerebral blood flow (CBF) were obtained 25 minutes after intravenous injection of 123-I-iodoamphetamine (IMP), and late images were scanned 3 hours later. Cerebral blood volume (CBV) was also measured using 99m Tc in three patients. Twenty cases with adult communicating hydrocephalus were also investigated from the point of view of shunt effectiveness. Although there was no remarkable change in the cerebrovascular bed in the juvenile cases, CBF of the remnant brain parenchyma was good irrespective of the degree of ventricular dilatation. There was a periventricular-related IMP uptake in each case; however, it somehow matched the ventricular span. Functional outcome one to 23 years after the initial shunt operation was good in every case, despite multiple shunt revisions. Redistribution on late images had no bearing on clinical states. In adult cases, 8 patients with effective shunting demonstrated a relatively localized periventricular low perfusion, with preoperative increased cerebrospinal fluid (CSF) pressure. On the contrary, 12 patients with no improvement with or without ventricular-reduced IMP uptake, despite low CSF pressure. The present study indicates that periventricular hemodynamics may play an important role in cerebral function compromised by hydrocephalus. (J.P.N.)

The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas

International Nuclear Information System (INIS)

Krestan, C.; Czerny, C.; Gstoettner, W.; Franz, P.

2003-01-01

The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas will be described in this paper. The pre- and postoperative imaging of the temporal bone was performed with HRCT and MRI. HRCT and MRI were performed in the axial and coronal plane. MRI was done with T2 weighted and T1 weighted sequences both before and after the intravenous application of contrast material. All imaging findings were confirmed clinically or surgically. The preoperative cholesteatoma-caused complications depicted by HRCT included bony erosions of the ossicles, scutum, facial canal in the middle ear, tympanic walls including the tegmen tympani, and of the labyrinth. The preoperative cholesteatoma-caused complications depicted by MRI included signs indicative for labyrinthitis, and brain abscess. Postoperative HRCT depicted bony erosions caused by recurrent cholesteatoma, bony defects of the facial nerve and of the labyrinth, and a defect of the tegmen tympani with a soft tissue mass in the middle ear. Postoperative MRI delineated neuritis of the facial nerve, labyrinthitis, and a meningo-encephalocele protruding into the middle ear. HRCT and MRI are excellent imaging tools to depict either bony or soft tissue complications or both if caused by acquired cholesteatomas. According to our findings and to the literature HRCT and MRI are complementary imaging methods to depict pre- or postoperative complications of acquired cholesteatomas if these are suspected by clinical examination. (orig.) [de

Cerebral hemodynamics and functional prognosis in hydrocephalus

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Hirai, Osamu; Nishikawa, Michio; Watanabe, Shu; Yamakawa, Hiroyasu; Kinoshita, Yoshimasa; Uno, Akira; Handa, Hajime (Hamamatsu Rosai Hospital, Shizuoka (Japan))

1989-11-01

The functional outcome of cerebral hemodynamics in the chronic stage of juvenile hydrocephalus was determined using single photon emission computed tomography (SPECT). Five patients including three with aqueductal stenosis, one with post-meningitic hydrocephalus, and one case with hydrocephalus having developed after repair of a huge occipital encephalocele. Early images of cerebral blood flow (CBF) were obtained 25 minutes after intravenous injection of 123-I-iodoamphetamine (IMP), and late images were scanned 3 hours later. Cerebral blood volume (CBV) was also measured using {sup 99m}Tc in three patients. Twenty cases with adult communicating hydrocephalus were also investigated from the point of view of shunt effectiveness. Although there was no remarkable change in the cerebrovascular bed in the juvenile cases, CBF of the remnant brain parenchyma was good irrespective of the degree of ventricular dilatation. There was a periventricular-related IMP uptake in each case; however, it somehow matched the ventricular span. Functional outcome one to 23 years after the initial shunt operation was good in every case, despite multiple shunt revisions. Redistribution on late images had no bearing on clinical states. In adult cases, 8 patients with effective shunting demonstrated a relatively localized periventricular low perfusion, with preoperative increased cerebrospinal fluid (CSF) pressure. On the contrary, 12 patients with no improvement with or without ventricular-reduced IMP uptake, despite low CSF pressure. The present study indicates that periventricular hemodynamics may play an important role in cerebral function compromised by hydrocephalus. (J.P.N.).

Variation of Ultrasound Findings in the First Trimester Examination of Recurrent Cases With Trisomy 21

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Daniilidis, Aggelos; Balaouras, Dimitrios; Chitzios, Dimitrios; Balaouras, Georgios; Capilna, Mihai; Asimakopoulos, Efstratios

2015-01-01

Increased nuchal translucency (NT) is present in about 50% of cases with trisomy 21. Very often the nuchal edema evolves in hydrops fetalis until the second trimester. Furthermore, a small amount of cases with a normal NT and trisomy 21 exhibit anatomical anomalies. We present a case of a 21-year-old woman, nulliparous, with a history of one termination of pregnancy and a smoking quitter. The prenatal control was negative for TORCH. During the first trimester scan on the 13th week, the NT was found 2.7 mm, the ductus venosus Doppler was normal, and the nasal bone was present. Hydrops fetalis was present though, and the parents were advised for chorionic villus sampling (CVS), but they opted for termination of pregnancy. The molecular control by QF-PCR showed normal karyotype for 13 and 18, a male fetus, but non-dysjunction trisomy 21 was present. Parental karyotype was advised, but they refused to perform it. One year later, the couple had another pregnancy. On the 12th week scan, the NT was found 1.0 mm, the ductus venosus Doppler was normal, and the nasal bone was present, but encephalocele was also found, and the parents consented again for termination of pregnancy. The new molecular control showed the same results. This time parental karyotype was performed. The father had a normal one, whereas the mother showed reversed p11 and q13 zones in chromosome 2. Genetical consulting and prenatal cytological control was advised in before next pregnancy. PMID:25883716

Agnathia-holoprosencephaly associated with a 46,XY,-21,+t(21q;21q) karyotype

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Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K. [Univ. of Illinois, Chicago, IL (United States)

1994-09-01

We report an unusual case of agnathia-holoprosencephaly associated with Down syndrome due to a 21/21 translocation. The patient presented prenatally at 21 wks gestation. A fetal ultrasound revealed multiple CNS anomalies including hydrocephalus, compressed cerebellum, absent septum pellucidum and possible cranial meningocele or encephalocele. High resolution ultrasound & fetal karyotype were recommended. The patient refused & elected to have a pregnancy termination. Chromosomal analysis performed on products of conception revealed a 46,XY,-21,+t(21q;21q) karyotype. Fluorescence in situ hybridization was performed and confirmed the 21/21 translocation chromosome. An autopsy revealed agnathia and multiple CNS anomalies including absence of the septum pellucidum, absence of the corpus callosum, arhinencephaly, an occiptal meningoencephalocele, dilation of the lateral ventricles, and extensive dysgenesis & heterotopias of the central cerebrum & mid-brain. Additional abnormalities included a persistent left superior vena cava, atrial & ventricular septal defects, irregular length of the fingers with absence of the middle phalanges of the right 2nd and 5th & left 5th digits and bilateral simian creases. Agnathia can be an isolated abnormality but often is associated with holoprosencephaly and/or situs inversus. The majority of familial case of agnathis-holoprosencephaly was caused by an inherited unbalanced translocation resulting in duplication of 6p and monosomy of 18p. Our patient had a translocation form of trisomy 21 but did not have a phenotype consistent with Down syndrome. Trisomy 21 has not been previously reported in other cases of agnathia-holoprosencephaly. Whether the chromosomal abnormality caused the phenotypic abnormalities or if it is a coincidental finding cannot be determined.

Neural tube defects – disorders of neurulation and related embryonic processes

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Copp, Andrew J.; Greene, Nicholas D. E.

2014-01-01

Neural tube defects (NTDs) are severe congenital malformations affecting 1 in every 1000 pregnancies. ‘Open’ NTDs result from failure of primary neurulation as seen in anencephaly, myelomeningocele (open spina bifida) and craniorachischisis. Degeneration of the persistently open neural tube in utero leads to loss of neurological function below the lesion level. ‘Closed’ NTDs are skin-covered disorders of spinal cord structure, ranging from asymptomatic spina bifida occulta to severe spinal cord tethering, and usually traceable to disruption of secondary neurulation. ‘Herniation’ NTDs are those in which meninges, with or without brain or spinal cord tissue, become exteriorised through a pathological opening in the skull or vertebral column (e.g. encephalocele and meningocele). NTDs have multifactorial etiology, with genes and environmental factors interacting to determine individual risk of malformation. While over 200 mutant genes cause open NTDs in mice, much less is known about the genetic causation of human NTDs. Recent evidence has implicated genes of the planar cell polarity signalling pathway in a proportion of cases. The embryonic development of NTDs is complex, with diverse cellular and molecular mechanisms operating at different levels of the body axis. Molecular regulatory events include the BMP and Sonic hedgehog pathways which have been implicated in control of neural plate bending. Primary prevention of NTDs has been implemented clinically following the demonstration that folic acid, when taken as a peri-conceptional supplement, can prevent many cases. Not all NTDs respond to folic acid, however, and adjunct therapies are required for prevention of this folic acid-resistant category. PMID:24009034

Are concentrations of alkaline earth elements in maternal hair associated with risk of neural tube defects?

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Li, Zhenjiang; Wang, Bin; Huo, Wenhua; Liu, Yingying; Zhu, Yibing; Xie, Jing; Li, Zhiwen; Ren, Aiguo

2017-12-31

The relationship between maternal intake of alkaline earth elements (AEEs) during the period of neural tube closure and the risk of neural tube defects (NTDs) is still unclear. We propose that AEE deficiency during the early period of pregnancy is associated with an elevated risk of NTDs in the offspring. In this study, we recruited 191 women with NTD-affected pregnancies (cases) and 261 women who delivered healthy infants (controls). The concentrations of four AEEs (Ca, Mg, Sr, Ba) in maternal hair sections that grew during early pregnancy were analyzed. Information on the dietary habits of the mothers was also collected by questionnaire. Higher concentrations of the four AEEs in hair had protective effects against the risk of total NTDs, with odds ratios with 95% confidence interval (comparing groups separated by each median level) of 0.44 (0.28-0.68) for Mg, 0.56 (0.36-0.87) for Ca, 0.45 (0.28-0.70) for Sr, and 0.41 (0.26-0.65) for Ba. Significant negative dose-response trends were identified for the relationships between the four AEE concentrations in maternal hair and the risks of anencephaly and spina bifida, but not for encephalocele. The frequencies of maternal consumption of fresh green vegetables, fresh fruit, and meat or fish were positively correlated with the concentrations of AEEs in hair. We concluded that the maternal intake of AEEs may play an important role in preventing NTD formation in offspring, and that this intake is related to maternal dietary habits of consuming fresh green vegetables, fresh fruit, and fish or meat. Copyright © 2017 Elsevier B.V. All rights reserved.

The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

International Nuclear Information System (INIS)

Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M.; Schoubroeck, D.Van; Witters, I.; Deprest, J.; Vanhole, C.; Casaer, P.

2003-01-01

The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis

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Breysem, L.; Bosmans, H.; Dymarkowski, S.; Demaerel, P.; Vanbeckevoort, D.; Smet, M. [Department of Radiology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Schoubroeck, D.Van; Witters, I.; Deprest, J. [Department of Obstetrics and Gynecology, University Hospitals, Herestraat 49, 3000, Leuven (Belgium); Vanhole, C.; Casaer, P. [Department of Pediatrics, University Hospitals, Herestraat 49, 3000, Leuven (Belgium)

2003-07-01

The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. (orig.)

Endoscopic third ventriculostomy

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Yad Ram Yadav

2012-01-01

Full Text Available Endoscopic third ventriculostomy (ETV is considered as a treatment of choice for obstructive hydrocephalus. It is indicated in hydrocephalus secondary to congenital aqueductal stenosis, posterior third ventricle tumor, cerebellar infarct, Dandy-Walker malformation, vein of Galen aneurism, syringomyelia with or without Chiari malformation type I, intraventricular hematoma, post infective, normal pressure hydrocephalus, myelomeningocele, multiloculated hydrocephalus, encephalocele, posterior fossa tumor and craniosynostosis. It is also indicated in block shunt or slit ventricle syndrome. Proper Pre-operative imaging for detailed assessment of the posterior communicating arteries distance from mid line, presence or absence of Liliequist membrane or other membranes, located in the prepontine cistern is useful. Measurement of lumbar elastance and resistance can predict patency of cranial subarachnoid space and complex hydrocephalus, which decides an ultimate outcome. Water jet dissection is an effective technique of ETV in thick floor. Ultrasonic contact probe can be useful in selected patients. Intra-operative ventriculo-stomography could help in confirming the adequacy of endoscopic procedure, thereby facilitating the need for shunt. Intraoperative observations of the patent aqueduct and prepontine cistern scarring are predictors of the risk of ETV failure. Such patients may be considered for shunt surgery. Magnetic resonance ventriculography and cine phase contrast magnetic resonance imaging are effective in assessing subarachnoid space and stoma patency after ETV. Proper case selection, post-operative care including monitoring of ICP and need for external ventricular drain, repeated lumbar puncture and CSF drainage, Ommaya reservoir in selected patients could help to increase success rate and reduce complications. Most of the complications develop in an early post-operative, but fatal complications can develop late which indicate an importance of

Morphological evaluation of fetus CNS and its related anomalies; The advantages and limitations of prenatal diagnosis by means of MRI, US, and CT

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Oi, Shizuo; Tamaki, Norihiko; Matsumoto, Satoshi; Katayama, Kazuaki; Mochizuki, Matsuto (Kobe Univ. (Japan). School of Medicine)

1989-08-01

The fetal central nervous system was evaluated morphologically by ultrasonography (US), magnetic resonance imaging (MRI), and CT scan to analyze the prenatal diagnostic value for anomalies. A total of 31 patients with 42 lesions had been diagnosed during the preceding 7 years. The patients included 24 with hydrocephalus, three with anencephaly, three with myeloschisis, three with holoprosencephaly, three with an encephalocele, two with a Dandy-Walker cyst, one with hydroencephalodysplasia, one with an intracranial neoplasm, one with sacrococcygeal teratoma, and one with sacral agenesis. Compared with US and MRI, CT proved to be more accurate in the detection of spine and cranium-bone morphology. This finding seems to be valuable in the diagnosis of spina bifida, cranium bifidum and some cases of hypertensive hydrocephalus, especially in the axial view. MRI was definitely superior in the anatomico-pathological diagnosis of cerebral dysgenesis, ventriculomegaly, intracranial tumors, and other brain parenchymal changes in view of multi-dimensional analysis. MRI performed poorly in the diagnosis of spine and cranium morphology. A super-conducting MRI system is still insufficient to demonstrate the spinal cord of a fetus. US used routinely and multidimensional slices were valuable for screening the CNS abnormalies. Intracranial hematomas had a specific echogenecity on US. However, US sometimes failed to demarcate the cerebral parenchymal or subdural morphological changes because its artifacts had hyperchoic shadows. While US, MRI, and CT were valuable diagnostic tools in the morphological evaluation of fetal CNS anomalies, each modality has different advantages and disadvantages. Diagnostic advandage,depending on the nature of the anamoly, can be achieved by using the complementary imaging modalities.

Clinical outcomes of temporary shunting for infants with cerebral pseudomeningocele.

Science.gov (United States)

Mattei, Tobias A; Sambhara, Deepak; Bond, Brandon J; Lin, Julian

2014-02-01

Although in the case of subdural collections temporary shunting has been suggested as a viable alternative for definitive drainage of the accumulated fluid until restoration of the normal CSF dynamics, there is no agreement on the best management strategy for pseudomeningocele. The authors performed a retrospective chart review in order to evaluate the clinical outcomes of infants temporarily shunted for pseudomeningocele without encephalocele at our institution (The University of Illinois at Peoria/Illinois Neurological Institute) in the period from 2004 to 2012. The epidemiological characteristics, clinical management, and final outcomes of such subpopulation were compared with a control group which received temporary shunting for subdural hematomas (SDH) during the same period. Four patients (100% male) ranging in age from 8.9 to 27.1 months (mean = 13.88) with pseudomeningocele and 17 patients (64.7% male) ranging in age from 1.9 to 11.8 months (mean = 4.15) with SDH were identified. Although the initial management included sequential percutaneous subdural tapping in 82% of the patients, all children ultimately failed such strategy, requiring either subdural-peritoneal (81% of the cases) or subgaleal-peritoneal (19% of the cases) shunting. The mean implant duration was 201 days for the pseudomeningocele group and 384 days for the SDH one. Mean post-shunt hospitalization was 2 days for patients with pseudomeningocele and 4 days for patients with SDH. There was no statistical difference in terms of complications, length of hospitalization post-shunting, or clinical outcomes between the patients with pseudomeningocele and those with SDH. Temporary shunting of infants with pseudo-meningocele constitutes a viable therapeutic alternative with favorable clinical outcomes and a low risk of shunt dependency similar to those of children with SDH.

Morphological evaluation of fetus CNS and its related anomalies

International Nuclear Information System (INIS)

Oi, Shizuo; Tamaki, Norihiko; Matsumoto, Satoshi; Katayama, Kazuaki; Mochizuki, Matsuto

1989-01-01

The fetus central nervous system was evaluated morphologically by ultrasonography (US), magnetic resonance imaging (MRI), and CT scan to analyze the prenatal diagnostic value for CNS anomalies. A total of 31 patients with 42 lesions had been diagnosed during the preceding 7 years. The patients included 24 with hydrocephalus, three with anencephaly, three with myeloschisis, three with holoprosencephaly, three with an encephalocele, two with a Dandy-Walker cyst, one with hydroencephalodysplasia, one with an intracranial neoplasm, one with sacrococcygeal teratoma, and one with sacral agenesis. Compared with US and MRI, CT proved to be more accurate in the detection of spine and cranium-bone morphology. This finding seems to be valuable in the diagnosis of spina bifida, cranium bifidum and some cases of hypertensive hydrocephalus, especially in the axial view. MRI was definitely superior in the anatomico-pathological diagnosis of cerebral dysgenesis, ventriculomegaly, intracranial tumors, and other brain parenchymal changes in view of multi-dimensional analysis. The most considerable disadvantage of MRI in the diagnosis of a fetus CNS anomaly is the poor information about spine and cranium morphology. A super-conducting MRI system is still insufficient to demonstrate the spinal cord of a fetus. US was routinely used, and the multidimensional slices were useful for screening the CNS abnormalies. Some of the fetus brain lesions, such as intracranial hematomas, had a specific echogenecity on US. However, US sometimes failed to demarcate the cerebral parenchymal or subdural morphological changes because its artifacts had hyperchoic shadows. While US, MRI, and CT were valuable diagnostic tools in the morphological evaluation of fetus CNS and its related anomalies, each modality has different diagnostic advantages and disadvantages. Improvement can be expected when these diagnostic imaging modalities are complementary, depending upon the nature of the anatomy. (J.P.N.)

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

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Dowdle, William E.; Robinson, Jon F.; Kneist, Andreas; Sirerol-Piquer, M. Salomé; Frints, Suzanna G.M.; Corbit, Kevin C.; Zaghloul, Norran A.; van Lijnschoten, Gesina; Mulders, Leon; Verver, Dideke E.; Zerres, Klaus; Reed, Randall R.; Attié-Bitach, Tania; Johnson, Colin A.; García-Verdugo, José Manuel; Katsanis, Nicholas; Bergmann, Carsten; Reiter, Jeremy F.

2011-01-01

Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts. Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. Given the importance of these two B9 proteins to ciliogenesis, we examined the role of the third B9 protein, B9d1. Mice lacking B9d1 displayed polydactyly, kidney cysts, ductal plate malformations, and abnormal patterning of the neural tube, concomitant with compromised ciliogenesis, ciliary protein localization, and Hedgehog (Hh) signal transduction. These data prompted us to screen MKS patients for mutations in B9D1 and B9D2. We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. Unlike wild-type B9D2 mRNA, the p.Ser101Arg mutation failed to rescue zebrafish phenotypes induced by the suppression of b9d2. With coimmunoprecipitation and mass spectrometric analyses, we found that Mks1, B9d1, and B9d2 interact physically, but that the p.Ser101Arg mutation abrogates the ability of B9d2 to interact with Mks1, further suggesting that the mutation compromises B9d2 function. Our data indicate that B9d1 is required for normal Hh signaling, ciliogenesis, and ciliary protein localization and that B9d1 and B9d2 are essential components of a B9 protein complex, disruption of which causes MKS. PMID:21763481

Technique of stepwise intracranial decompression combined with external ventricular drainage catheters improve the prognosis of acute post-traumatic hemispheric brain swelling patients

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Lei eShi

2015-09-01

Full Text Available Background: Acute post-traumatic cerebral hemispheric brain swelling (ACHS is a serious disorder that occurs after traumatic brain injury (TBI, and it often requires immediate treatment. The aim of our clinical study was to assess the effects of stepwise intracranial decompression combined with external ventricular drainage catheters on the prognosis of ACHS patients.Methods: A retrospective study was performed on 172 cases of severe craniocerebral trauma patients with acute cerebral hemispheric swelling. The patients were divided into two groups: unilateral stepwise standard large trauma craniectomy (S-SLTC combined with external ventricular drainage (EVD catheter implants (n = 86 and unilateral routine frontal temporal parietal SLTC (control group, n = 86.Result: No significant differences in age, sex, or preoperative Glasgow Coma Scale score were observed between groups (P < 0.05. There were no significant differences in the ipsilateral subdural effusion incidence rates between the S-SLTC+EVD treatment group and the routine SLTC group. However, the incidence rates of intraoperative acute encephalocele and contralateral epidural and subdural hematoma in the S-SLTC+EVD group were significantly lower than those in the SLTC group (17.4% and 3.5% vs. 37.2% and 23.3%, respectively. The mean intracranial pressure (ICP values of patients in the S-SLTC+EVD group were also lower than those in the SLTC group at days 1 through7 (P<0.05. A positive neurological outcome (GOS score 4 to 5, 50.0% and decreased mortality (15.1% was observed in the S-SLTC+EVD group compared to the neurological outcome (GOS score 4 to 5, 33.8%; 36.0% in the SLTC group (P<0.05.Conclusions: Our data suggest that S-SLTC+EVD is more effective for controlling ICP, improving neurological outcome, and decreasing mortality rate compared with routine SLTC.

[Congenital skull base defect causing recurrent bacterial meningitis].

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Berliner, Elihay; Bar Meir, Maskit; Megged, Orli

2012-08-01

Bacterial meningitis is a life threatening disease. Most patients will experience only one episode throughout life. Children who experience bacterial meningitis more than once, require further immunologic or anatomic evaluation. We report a 9 year old child with five episodes of bacterial meningitis due to a congenital defect of the skull base. A two and a half year old boy first presented to our medical center with pneumococcal meningitis. He was treated with antibiotics and fully recovered. Two months later he presented again with a similar clinical picture. Streptococcus pneumoniae grew in cerebrospinal fluid (CSF) culture. CT scan and later MRI of the brain revealed a defect in the anterior middle fossa floor, with protrusion of brain tissue into the sphenoidal sinus. Corrective surgery was recommended but the parents refused. Three months later, a third episode of pneumococcal meningitis occurred. The child again recovered with antibiotics and this time corrective surgery was performed. Five years later, the boy presented once again with clinical signs and symptoms consistent with bacterial meningitis. CSF culture was positive, but the final identification of the bacteria was conducted by broad spectrum 16S ribosomal RNA PCR (16S rRNA PCR) which revealed a sequence of Neisseria lactamica. CT and MRI showed recurrence of the skull base defect with encephalocele in the sphenoid sinus. The parents again refused neurosurgical intervention. A year later the patient presented with bacterial meningitis. CSF culture obtained after initiation of antibiotics was negative, but actinobacillus was identified in the CSF by 16S rRNA PCR. The patient is scheduled for neurosurgical intervention. In patients with recurrent bacterial meningitis caused by organisms colonizing the oropharynx or nasopharynx, an anatomical defect should be carefully sought and surgically repaired.

Sonographic pattern of hydrocephalus among the under five children in Sokoto North Western Nigeria

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Sule Ahmed Saidu

2015-01-01

Full Text Available Background: Hydrocephalus among children is an important medical problem in view of its neurological sequelae in the growing child. This situation is compounded by the acute shortage of neurosurgeons in third world countries like Nigeria; hence, the need for its early detection and proper management. Objective: Evaluation of the ultrasound (US appearances in children under 5 years of age presenting with clinical signs of raised intracranial pressure suggestive of hydrocephalus. Patients and Methods: A retrospective review of transfontanelle US scans done in 64 children (39 boys and 25 girls attending the Department of Radiology, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria over a period of 2 years was carried out. The patients had a mean age of 5.0 ± 4.6 months (range: 1–60 months at the time of their US examination. Some of the clinical indications for US scan included: Congenital hydrocephalus, encephalocele, meningomyelocele, and meningitis. All scans were performed through the anterior fontanelle using SIUI Apogee 800 PLUS scanner with a curvilinear probe using multi-frequency transducer of 2–5 MHz. Results: Fifty-two patients (81.3% had hydrocephalus of congenital origin. Eleven cases (17.2% had postmeningitic hydrocephalus while only 1 case (1.6% was posthemorrhagic. Twenty-five patients (48.0% of the congenital cases were due to cerebral aqueduct stenosis. Eleven (21.2% of the congenital cases were from obstruction at the exit foramina of Luschka and Magendie resulting in the communicating type of hydrocephalus. Conclusion: Hydrocephalus is a known cause of neurological morbidity among infants in developing countries. Majority of the cases are congenital in origin and most commonly due to cerebral aqueduct stenosis. Transfontanelle US is cheap, affordable, nonhazardous, and more accessible than other imaging modalities. It should serve as the first-line investigation of infants with suspected hydrocephalus for early

Trisomy 2p: Analysis of unusual phenotypic findings

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Lurie, I.W.; Ilyina, H.G.; Gurevich, D.B. [Belorussian Research Institute of Hereditary Disease, Minsk (Russian Federation)] [and others

1995-01-16

We present three probands with partial trisomies 2p21-23 due to ins(4;2)(q21;p21p23) pat, 2p23-pter due to t(2;4)(p23;q35)mat, and 2p21-pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non-karyotyped sibs. Neural tube defects (anencephaly, occipital encephalocele, and spina bifida) were found in five probands and 4/6 affected non-karyotyped sibs. The only triplicated segment common to all was 2p24. Different forms of {open_quotes}broncho-pulmonary a/hypoplasia{close_quotes} (including two cases of lung agenesis) were described in four patients (overlapping triplicated segment was 2p21-p25). Three patients (with overlapping triplicated segment 2p23-p25) had diaphragmatic hernia. Abnormal rotation of the heart or L-transposition of large vessels (with or without visceral heterotaxia) was found in two infants (overlapping triplicated segment 2p23-p24). In two patients with common triplicated segment 2p22.3-p25, neuroblastoma has been described. The occurrence of all these defects may be explained either by the action of the same gene(s) mapped to 2p24 or by action of some independent factors located in different segments of the short arm. Although the latter hypothesis is much less probable, it can not be rejected at the present time. We propose the existence of a genetic system controlling surveillance of an abnormal embryo to explain the phenotypic differences between patients with the same imbalance within a family. In some {open_quotes}restrictive{close_quotes} combinations the abnormal embryos will die, although in {open_quotes}permissive{close_quotes} combinations they can survive. 47 refs., 2 figs., 3 tabs.

Magnitude of Neural Tube Defects and Associated Risk Factors at Three Teaching Hospitals in Addis Ababa, Ethiopia.

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Gedefaw, Abel; Teklu, Sisay; Tadesse, Birkneh Tilahun

2018-01-01

There is scarcity of data on prevalence of neural tube defects (NTDs) in lower-income countries. Local data are important to understand the real burden of the problem and explore risk factors to design and implement preventive approaches. This study aimed to determine prevalence and risk factors of NTDs. A hospital-based cross-sectional and unmatched case-control study was conducted at three teaching hospitals of Addis Ababa University. NTDs were defined as cases of anencephaly, spina bifida, and encephalocele based on ICD-10 criteria. The prevalence of NTDs was calculated per 10,000 births for both birth and total prevalence. During seven months, we observed 55 cases of NTDs out of 8677 births after 28 weeks of gestation-birth prevalence of 63.4 per 10,000 births (95% confidence interval (CI), 51-77). A total of 115 cases were medically terminated after 12 weeks of gestation. Fifty-six of these terminations (48.7%) were due to NTDs. Thus, total prevalence of NTDs after 12 weeks' gestation is 126 per 10,000 births (95% CI, 100-150). Planned pregnancy (adjusted odds ratio (aOR), 0.47; 95% CI, 0.24-0.92), male sex (aOR, 0.56; 95% CI, 0.33-0.94), normal or underweight body mass index (aOR, 0.49; 95%, 0.29-0.95), and taking folic acid or multivitamins during first trimester (aOR, 0.47; 95%, 0.23-0.95) were protective of NTDs. However, annual cash family income less than $1,300 USD (aOR, 2.5; 95%, 1.2-5.5), $1,300-1,800 USD (aOR, 2.8; 95%, 1.3-5.8), and $1,801-2,700 USD (aOR, 2.6; 95%, 1.2-5.8) was found to be risk factors compared to income greater than $2,700 USD. The prevalence of NTDs was found to be high in this setting. Comprehensive preventive strategies focused on identified risk factors should be urgently established. More studies on prevention strategies, including folic acid supplementations, should be conducted in the setting.

Magnitude of Neural Tube Defects and Associated Risk Factors at Three Teaching Hospitals in Addis Ababa, Ethiopia

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Abel Gedefaw

2018-01-01

Full Text Available There is scarcity of data on prevalence of neural tube defects (NTDs in lower-income countries. Local data are important to understand the real burden of the problem and explore risk factors to design and implement preventive approaches. This study aimed to determine prevalence and risk factors of NTDs. A hospital-based cross-sectional and unmatched case-control study was conducted at three teaching hospitals of Addis Ababa University. NTDs were defined as cases of anencephaly, spina bifida, and encephalocele based on ICD-10 criteria. The prevalence of NTDs was calculated per 10,000 births for both birth and total prevalence. During seven months, we observed 55 cases of NTDs out of 8677 births after 28 weeks of gestation—birth prevalence of 63.4 per 10,000 births (95% confidence interval (CI, 51–77. A total of 115 cases were medically terminated after 12 weeks of gestation. Fifty-six of these terminations (48.7% were due to NTDs. Thus, total prevalence of NTDs after 12 weeks’ gestation is 126 per 10,000 births (95% CI, 100–150. Planned pregnancy (adjusted odds ratio (aOR, 0.47; 95% CI, 0.24–0.92, male sex (aOR, 0.56; 95% CI, 0.33–0.94, normal or underweight body mass index (aOR, 0.49; 95%, 0.29–0.95, and taking folic acid or multivitamins during first trimester (aOR, 0.47; 95%, 0.23–0.95 were protective of NTDs. However, annual cash family income less than $1,300 USD (aOR, 2.5; 95%, 1.2–5.5, $1,300–1,800 USD (aOR, 2.8; 95%, 1.3–5.8, and $1,801–2,700 USD (aOR, 2.6; 95%, 1.2–5.8 was found to be risk factors compared to income greater than $2,700 USD. The prevalence of NTDs was found to be high in this setting. Comprehensive preventive strategies focused on identified risk factors should be urgently established. More studies on prevention strategies, including folic acid supplementations, should be conducted in the setting.

The Prevalence and Distribution of Spina Bifida in a Single Major Referral Center in Malaysia

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Adibah Sahmat

2017-11-01

Full Text Available BackgroundThe aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients’ ambulation and education level (where available.MethodsData from the Department of Patient Information University of Malaya Medical Centre (UMMC, Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida. Data involved patients referred to UMMC between 2003 and 2016 and/or born in UMMC within that particular time frame. We filtered and extracted the information according to the data of clinical examination, medical review, and social history provided in the medical records.ResultsA total of 86 patient records with spina bifida were analyzed. Spina bifida prevalence rate in this study ranged from 1.87 to 8.9 per 1,000 live births depending on weightage. We note that ethnicity was a factor whereby the highest numbers of spina bifida were from Malays (n = 36, 41.86%, followed by equal numbers of Chinese and Indians (n = 24, 27.91%. The highest number of diagnoses reported was myelomeningocele type-spina bifida (n = 39, 45.35%. The most common site of the spina bifida lesion was located at the lumbar region irrespective of aperta or occulta types (n = 23, 26.74%. Data on other associated phenotypes of spina bifida such as hydrocephalus and encephalocele was also captured at 37.21% (n = 32 and 1.16% (n = 1, respectively. In terms of mobility, 32.84% (n = 22/67 of patients between the ages 4 and 16 years old were found to be mobile. As many as 36.07% of patients ranging from 5 to 16 years of age (n = 22/61 received formal education ranging from preschool to secondary school.ConclusionThe prevalence of spina bifida in

The Prevalence and Distribution of Spina Bifida in a Single Major Referral Center in Malaysia.

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Sahmat, Adibah; Gunasekaran, Renuka; Mohd-Zin, Siti W; Balachandran, Lohis; Thong, Meow-Keong; Engkasan, Julia P; Ganesan, Dharmendra; Omar, Zaliha; Azizi, Abu Bakar; Ahmad-Annuar, Azlina; Abdul-Aziz, Noraishah M

2017-01-01

The aim of this study is to review the medical history of patients with spina bifida, encompassing both aperta and occulta types born between the years 2003 until 2016, spanning a 13-year time period. We assessed each patient and maternal parent information, details of the defects, and conditions associated with the primary defect. We also include information on patients' ambulation and education level (where available). Data from the Department of Patient Information University of Malaya Medical Centre (UMMC), Malaysia was captured from spina bifida patients (ICD10: Q05 spina bifida). Data involved patients referred to UMMC between 2003 and 2016 and/or born in UMMC within that particular time frame. We filtered and extracted the information according to the data of clinical examination, medical review, and social history provided in the medical records. A total of 86 patient records with spina bifida were analyzed. Spina bifida prevalence rate in this study ranged from 1.87 to 8.9 per 1,000 live births depending on weightage. We note that ethnicity was a factor whereby the highest numbers of spina bifida were from Malays ( n  = 36, 41.86%), followed by equal numbers of Chinese and Indians ( n  = 24, 27.91%). The highest number of diagnoses reported was myelomeningocele type-spina bifida ( n  = 39, 45.35%). The most common site of the spina bifida lesion was located at the lumbar region irrespective of aperta or occulta types ( n  = 23, 26.74%). Data on other associated phenotypes of spina bifida such as hydrocephalus and encephalocele was also captured at 37.21% ( n  = 32) and 1.16% ( n  = 1), respectively. In terms of mobility, 32.84% ( n  = 22/67) of patients between the ages 4 and 16 years old were found to be mobile. As many as 36.07% of patients ranging from 5 to 16 years of age ( n  = 22/61) received formal education ranging from preschool to secondary school. The prevalence of spina bifida in UMMC is as according to

Prevalence of birth defects and risk-factor analysis from a population-based survey in Inner Mongolia, China

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Zhang Xingguang

2012-08-01

Full Text Available Abstract Background Birth Defects are a series of diseases that seriously affect children's health. Birth defects are generally caused by several interrelated factors. The aims of the article is to estimate the prevalence rate and types of birth defects in Inner Mongolia, China, to compare socio-demographic characteristics among the children with birth defects and to analyze the association between risk factors and birth defects. Methods Data used in this study were obtained through baseline survey of Inner Mongolia Birth Defects Program, a population-based survey conducted from 2005 to 2008. The survey used cluster sampling method in all 12 administrative districts of Inner Mongolia. Sampling size is calculated according to local population size at a certain percentage. All live births, stillbirths and abortions born from October 2005 to September 2008, whose families lived in Inner Mongolia at least one year, were included. The cases of birth defects were diagnosed by the clinical doctors according to their experiences with further laboratory tests if needed. The inclusion criteria of the cases that had already dead were decided according to death records available at local cites. We calculated prevalence rate and 95% confidence intervals of different groups. Outcome variable was the occurrence of birth defects and associations between risk factors and birth defects were analyzed by using Poisson regression analysis. Results 976 children with birth defects were diagnosed. The prevalence rate of birth defects was 156.1 per 10000 births (95%CI: 146.3-165.8. The prevalence rate of neural tube defect (20.1 per 10000 births including anencephaly(6.9 per 10000, spina bifida (10.6 per 10000, and encephalocele (2.7 per 10000 was the highest, followed by congenital heart disease (17.1 per 10000. The relative risk (RR for maternal age less than 25 was 2.22 (95%CI: 2.05, 2.41. The RR of the ethnic Mongols was lower than Han Chinese (RR: 0.84; 95%CI: 0

Brain tissue aspiration neural tube defect Aspiração de tecido cerebral em casos de defeitos de fechamento do tubo neural

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Luiz Cesar Peres

2005-09-01

Full Text Available The study aimed to find out how frequent is brain tissue aspiration and if brain tissue heterotopia could be found in the lung of human neural tube defect cases. Histological sections of each lobe of both lungs of 22 fetuses and newborn with neural tube defect were immunostained for glial fibrillary acidic protein (GFAP. There were 15 (68.2% females and 7 (31.8% males. Age ranged from 18 to 40 weeks of gestation (mean= 31.8. Ten (45.5% were stillborn, the same newborn, and 2 (9.1% were abortuses. Diagnosis were: craniorrhachischisis (9 cases, 40.9%, anencephaly (8 cases, 36,4%, ruptured occipital encephalocele and rachischisis (2 cases, 9.1% each, and early amniotic band disruption sequence (1 case, 4.5%. Only one case (4.5% exhibited GFAP positive cells inside bronchioles and alveoli admixed to epithelial amniotic squames. No heterotopic tissue was observed in the lung interstitium. We concluded that aspiration of brain tissue from the amniotic fluid in neural tube defect cases may happen but it is infrequent and heterotopia was not observed.O objetivo do estudo foi identificar qual a freqüência de aspiração de tecido cerebral e a existência de heterotopia nos pulmões de casos humanos de defeito de fechamento do tubo neural através da reação imuno-histoquímica para proteína fibrilar glial ácida (GFAP em cortes histológicos de todos os lobos de ambos os pulmões de 22 casos de fetos e neonatos com defeito de fechamento do tubo neural. Havia 15 casos femininos (68,2% e 7 masculinos (31,8%, com idade gestacional variando de 18 a 40 semanas (média= 31,8, sendo natimortos e neomortos 10 (45,5% cada e 2 (9,1% abortos. Os diagnósticos foram: Craniorraquisquise (9 casos, 40,9%, anencefalia (8 casos, 36,4%, encefalocele occipital rota e raquisquise (2 casos, 9,1% e 1 (4,5%caso de seqüência de disruptura amniótica precoce. Somente 1 caso (4,5% apresentou células positivas dentro de bronquíolos e alvéolos em meio a células epiteliais

Equoterapia na reabilitação da meningoencefalocele: estudo de caso Hyppotherapy in meningoencephalocele rehabilitation: a case study

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Sissa Mara Nicodemo Sanches

2010-12-01

. Outcome measures were obtained by means of the Berg and Tinetti balance scales and the Brazilian version of the Pediatric Evaluation of Disability Inventory (for general functional abilities, all applied before and after therapy, and at an 8-week follow-up assessment. Results showed the child's significantly improved balance and motor coordination, which reflected on functional movement control, basic for performing daily living activities. Functional gain was also perceived by the child's mother. This study provides a new insight into hippotherapy as a useful physical therapy modality for improving motor and functional ability of children with encephalocele.

The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas; CT und MRT des erworbenen Cholesteatoms: Prae- und postoperative Bildgebung

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Krestan, C.; Czerny, C. [Abteilung fuer Osteologie, Univ.-Klinik fuer Radiodiagnostik, Wien (Austria); Gstoettner, W. [Univ.-Klinik fuer Hals-Nasen-Ohren-Heilkunde, Frankfurt (Germany); Franz, P. [Univ.-Klinik fuer Hals-Nasen-Ohren-Heilkunde, Wien (Austria)

2003-03-01

The role of high-resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in the diagnosis of preoperative and postoperative complications caused by acquired cholesteatomas will be described in this paper. The pre- and postoperative imaging of the temporal bone was performed with HRCT and MRI. HRCT and MRI were performed in the axial and coronal plane. MRI was done with T2 weighted and T1 weighted sequences both before and after the intravenous application of contrast material. All imaging findings were confirmed clinically or surgically. The preoperative cholesteatoma-caused complications depicted by HRCT included bony erosions of the ossicles, scutum, facial canal in the middle ear, tympanic walls including the tegmen tympani, and of the labyrinth. The preoperative cholesteatoma-caused complications depicted by MRI included signs indicative for labyrinthitis, and brain abscess. Postoperative HRCT depicted bony erosions caused by recurrent cholesteatoma, bony defects of the facial nerve and of the labyrinth, and a defect of the tegmen tympani with a soft tissue mass in the middle ear. Postoperative MRI delineated neuritis of the facial nerve, labyrinthitis, and a meningo-encephalocele protruding into the middle ear. HRCT and MRI are excellent imaging tools to depict either bony or soft tissue complications or both if caused by acquired cholesteatomas. According to our findings and to the literature HRCT and MRI are complementary imaging methods to depict pre- or postoperative complications of acquired cholesteatomas if these are suspected by clinical examination. (orig.) [German] In dieser Arbeit wird die Rolle der hochaufloesenden Computertomographie (HRCT) und der Magnetresonanztomographie (MRT) zur Abklaerung prae- und postoperativ bedingter Komplikationen erworbener Cholesteatome beschrieben. Die Bildgebung wurde sowohl mit der HRCT als auch mit der MRT durchgefuehrt. Die HRCT und die MRT wurden in axialer und koronaler Ebene (auch

Prevalência de defeitos de fechamento de tubo neural no Vale do Paraíba, São Paulo Prevalence of neural tube defects in Vale do Paraíba, São Paulo, Brazil

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Luiz Fernando C. Nascimento

2008-12-01

Full Text Available OBJETIVO: Estimar a prevalência de defeitos de fechamento do tubo neural no Vale do Paraíba paulista e identificar possíveis fatores maternos e neonatais associados a tais defeitos. MÉTODOS: Realizou-se um estudo transversal com dados secundários obtidos na Secretaria Estadual da Saúde referentes aos nascimentos ocorridos em 2004 no Vale do Paraíba paulista, que compreende 35 municípios e conta com população de 2 milhões de habitantes. Anencefalia, encefalocele e espina bífida (mielocele e mielomeningocele foram considerados defeitos de fechamento do tubo neural. As variáveis maternas foram: idade, escolaridade, cor da pele, número de consultas no pré-natal, número de filhos vivos e relato de óbito fetal prévio. As variáveis relativas ao recém-nascido foram: peso, idade gestacional e escore de Apgar. Realizou-se comparação das médias por meio do teste t de Student e obtiveram-se os valores das razões de chance com intervalos de confiança de 95%. RESULTADOS: Foram analisados 33.653 nascidos vivos. Trinta e oito recém-nascidos com o defeito foram encontrados (1,13/1.000 nascidos vivos, sendo 23 casos de espina bífida. Houve associação com baixo peso ao nascimento, prematuridade e menores escores de Apgar de cinco minutos. CONCLUSÕES: A prevalência desta anomalia foi inferior à de outros estudos nacionais e sua presença esteve associada ao baixo peso, à prematuridade e à baixa vitalidade ao nascer.OBJECTIVE: To estimate the prevalence of neural tube defects in Vale do Paraíba, São Paulo, Brazil, and to identify possible maternal and neonatal variables associated with these defects. METHODS: This cross-sectional study used secondary records of the Health Department of São Paulo State related live births during 2004 in Vale do Paraíba, São Paulo, Brazil. This region has 35 cities and 2 million inhabitants. Anencephaly, encephalocele and spina bifida (myelocele and myelomeningocele were considered as neural tube

Impacto de la fortificación de alimentos con ácido fólico en los defectos del tubo neural en Costa Rica Impact of the fortification of food with folic acid on neural tube defects in Costa Rica

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María de la Paz Barboza Argüello

2011-07-01

Full Text Available OBJETIVO: Evaluar el impacto de la fortificación de alimentos con ácido fólico en las tendencias de las prevalencias de los defectos del tubo neural (DTN y la tasa de mortalidad infantil (TMI por este trastorno en Costa Rica. MÉTODOS: Se analizaron los datos de vigilancia del Centro de Registro de Enfermedades Congénitas y el Centro Centroamericano de Población. Se consideraron defectos del tubo neural la anencefalia, la espina bífida y el encefalocele. Se examinaron las tendencias durante 1987-2009, así como las diferencias de tasas (intervalo de confianza [IC] 95% de prevalencia y mortalidad antes de la fortificación de alimentos con ácido fólico y hasta 12 años después de su implementación. Se determinó el aporte de la fortificación al descenso en la TMI general. RESULTADOS: En 1987-1997, previo al período de fortificación de alimentos con ácido fólico, la prevalencia de DTN fue de 12/10 000 nacidos (IC95%: 11,1-12,8, mientras que en 2009 fue de 5,1/10 000 nacidos (3,3-6,5. La TMI por DTN en 1997 fue de 0,64/1 000 nacimientos (46-0,82 y en 2009 de 0,19/1 000 (0,09-0,3. La TMI por DTN y su prevalencia disminuyeron en forma significativa, 71% y 58% respectivamente (P OBJECTIVE: Evaluate the impact of the fortification of food with folic acid on prevalence trends for neural tube defects (NTD and the infant mortality rate (IMR associated with this disorder in Costa Rica. METHODS: The surveillance data from the Congenital Disease Registry Center and the Central American Population Center were analyzed. The neural tube defects considered were anencephaly, spina bifida, and encephalocele. The trends from 1987-2009, as well as the differences in prevalence and mortality rates prior to and up to 12 years after food fortification with folic acid, were examined (95% confidence interval [CI]. The contribution of fortification to the decrease in the overall IMR was determined. RESULTS: During 1987-1997, prior to the period of food

Defeitos de fechamento do tubo neural e fatores associados em recém-nascidos vivos e natimortos Neural tube defects and associated factors among liveborn and stillborn infants

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Marcos J.B. Aguiar

2003-04-01

evaluate the prevalence and factors associated to neural tube defects in liveborn and stillborn infants delivered at the Hospital das Clínicas, UFMG, from January 8, 1999 to July 31, 2000. METHODS: this is a descriptive study, based on a database, according to the Latin-American Collaborative Study of Congenital Malformation (ECLAMC rules. Reports on liveborn and stillborn infants with congenital anomalies were prepared including information about morphological description, necropsy results, complementary exams, family, social and pregnancy histories and other clinical data. Each malformed liveborn infant originated a control of the same sex, without malformations. The liveborn and stillborn infants with neural tube defects delivered during that period were classified according to their defect and the presence or absence of associated defects. The liveborn and stillborn infants with neural tube defects were compared to newborns without neural tube defects according to their weight and sex and their mother's age and parity. Epi-Info 6.0 Program was used for the statistical analysis of the results. RESULTS: the prevalence of neural tube defects was 4.73 to 1,000 deliveries (89:18,807; it was significantly higher among stillborn infants (23.7:1,000 than among liveborn infants (4.16:1,000, p < 0.001. Neural tube defects were more often found among low weight liveborn infants (< 2,500 g, p < 0.001 and less frequently among women who had had more than three gestations, p = 0.007. No association was found regarding newborn's sex or maternal age. There was no association with newborn's sex and weight, maternal parity or age among stillborn infants. The most common neural tube defects were myelomeningocele (47.2%, anencephaly (26.9% and encephalocele (16.9%. The defects were found as isolated anomalies in 71.1% of the liveborn and 38.5% of the stillborn infants; they were part of a syndrome in 9.2% (liveborn and 7.7% (stillborn. CONCLUSIONS: the neural tube defect prevalence found

Efeito da fortificação alimentar com ácido fólico na prevalência de defeitos do tubo neural Efecto de la fortificación alimentaria con ácido fólico en la prevalencia de defectos del tubo neural Effects of folic acid fortification on the prevalence of neural tube defects

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Sâmya Silva Pacheco

2009-08-01

defectos del cierre del tubo neural fueron definidos de acuerdo con el Códigos Internacional de Enfermedades- 10ª Revisión: anencefalia, encefalocele y espina bífida. Se compararon las prevalencias en los períodos anterior (2000 - 2004 y posterior (2005-2006 al período obligatorio de fortificación. Se analizó la tendencia temporal de las prevalencias trimestrales de defectos del cierre del tubo neural por las pruebas de Mann-Kendall y Sen's Slope. RESULTADOS: No se identificó tendencia de reducción en la ocurrencia del hecho (Teste de Mann-Kendall; p= 0,270; Sen's Slope = - 0,008 en el período estudiado. No hubo diferencia estadísticamente significativa entre las prevalencias de defectos de cierre del tubo neural en los períodos anterior y posterior a la fortificación de los alimentos con ácido fólico de acuerdo con las características maternas. CONCLUSIONES: A pesar de que no haya sido observada reducción de los defectos de cierre del tubo neural posterior al período obligatorio de fortificación de alimentos con ácido fólico, los resultados encontrados no permiten descartar el beneficio del mismo en la prevención de esta malformación. Son necesarios estudios evaluando mayor período y considerando el nivel de consumo de los productos fortificados por las mujeres en edad fértil.OBJECTIVE:To analyze the effect of folic acid-fortified foods on the prevalence of neural tube defects in live newborns. METHODS: Longitudinal study with newborns from the city of Recife, Northeastern Brazil, between 2000 and 2006. Data analyzed were obtained from the Sistema Nacional de Informações de Nascidos Vivos (National Information System on Live Births. Neural tube defects were defined in accordance with the International Classification of Diseases, 10th revision (ICD-10: anencephaly, encephalocele, and spina bifida. Prevalences from the periods before (2000-2004 and after (2005-2006 the mandatory fortification period were compared. Time trend of three