Gastric serosal tear due to congenital pyloric atresia: A rare anomaly ...

African Journals Online (AJOL)

Congenital pyloric atresia (CPA) is a very rare malformation with unknown aetiology. It has has numerous complications including gastric perforation, aspiration pneumonia. Gastric perforations in newborns occur by three mechanisms: trauma, ischaemia, or spontaneous. Here, we report a newborn with CPA presenting with ...

[Congenital intestinal lymphangiectasia: a rare differential diagnosis in hypoproteinemia in infants].

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Möller, A; Kalhoff, H; Reuter, T; Friedrichs, N; Wagner, N

2006-01-01

Congenital intestinal lymphangiectasia is a rare disease in childhood, which may already cause protein-losing enteropathy in newborns. This is a case report of an infant with generalized edema and protein-losing enteropathy, in whom intestinal lymphangiectasia was diagnosed at the age of two months. Following repetitive intravenous albumin und gamma globulin infusions, the elimination of long-chain fats from the diet and the substitution with medium-chain triglycerides (MCT) led to an improvement of the protein-losing enteropathy. In newborns with low level of serum protein and edema protein-losing enteropathy caused by congenital lymphangiectasia might be considered as a differential diagnosis.

Partial duplication of head--a rare congenital anomaly.

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Hemachandran, Manikkapurath; Radotra, Bishan Dass

2004-10-01

Duplication of notochord results in rare congenital anomalies like double headed monsters, with or without trunk/limb duplication, depending upon the extent of notochordal abnormality. Here we describe the morphological abnormalities in a case of partial duplication of cranial structures with fusion of the two. Autopsy findings suggest that the bifurcation of the neural tube took place around 4th to 6th week of gestation. There are only few reports in English literature describing the autopsy findings of such an anomaly, which is termed as Diprosopus triophthalmus in the modern literature.

Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

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Gosal Gurinder S

2011-03-01

Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

A rare presentation of a child with osteogenesis imperfecta and congenital laryngomalacia for herniotomy

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Roshith Chandran

2011-01-01

Full Text Available Sometimes anaesthesiologists come across rare congenital anomalies in their practice. The inherent complications associated with the disorder necessitate tailor-made approaches for providing anaesthesia to even seemingly simple surgical interventions. Here, we share our experience of anaesthesia management of an infant with congenital laryngomalacia and recently diagnosed osteogenesis imperfecta type 1 who had presented to us with an acute abdomen for a semi-emergency herniotomy.

Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

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Shanker, Vinay; Gupta, Mudita; Prashar, Aditi

2012-01-01

Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss. PMID:23130264

Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

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Vinay Shanker

2012-01-01

Full Text Available Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss.

Cor triatriatum dexter, a very rare congenital anomaly presented in a complex pathological context – case presentation

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Gozar Liliana

2014-08-01

Full Text Available Background Cor triatriatum dexter is an extremely rare congenital anomaly, and in most cases, without hemodynamic significance. Congenital cytomegalovirus infection is the most common viral infection, the majority of infected infants being asymptomatic and only 5-15% being symptomatic in the neonatal period.

[Rare diseases and their patient organization: the Hungarian Federation of People with Rare and Congenital Diseases].

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Pogány, Gábor

2014-03-02

The aim of the author is to discuss special issues of rare diseases, with emphasis on circumstances present in Hungary, including those leading to the foundation of the non-governmental organization, the Hungarian Federation of People with Rare and Congenital Diseases. The author briefly reviews the most important findings of current international surveys which have been performed with or without the involvement of member associations of the Hungarian Federation of People with Rare and Congenital Diseases. At the level of medical and social services in Hungary, it is still "incidental" to get to the appropriate expert or centre providing the diagnosis or treatment. It is difficult to find the still very few existing services due to the lack of suitable "pathways" and referrals. There are long delays in obtaining the first appointment, resulting in vulnerability and inequality along the regions. The overall consequence is the insufficiency or lack of access to medical and social services. There are also difficulties related to the supply of orphan medication and the long duration of hospitalization. At the level of patient organizations financial scarcity and uncertainty are typical, combined with inappropriate infrastructural background and human resources. The poor quality of organization of patient bodies along with insufficient cooperation among them are characteristic as well. The author concludes that a National Plan or Strategy is needed to improve the current fragmentation of services which would enable patients and health, social and educational professionals to provide and use the best care in the practice. This would ensure all patients with rare diseases to be diagnosed within a possible shortest time allowing access to the care and support needed in time resulting in a decrease in burden of families and society.

Coat-sleeve type giant congenital melanocytic nevus with intraoral blue nevus: A rare case report

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Lata M Kale

2017-01-01

Full Text Available Congenital melanocytic nevi (CMN are visible hyperpigmented (melanocytic, benign, tumor like proliferations in the skin resulting from faulty development of pigment cell precursors in the embryo, and are composed of an abnormal mixture of skin elements. Giant congenital melanocytic nevus (GCMN is usually defined as a melanocytic lesion present at birth that will reach a larger size in adulthood. GCMN is a rare variety of CMN which is characterized by its size (diameter ≥20 cm and the potential for malignant transformation. It is infrequently associated with other findings, which makes the clinical picture complex. In this case, we report a rare association of GCMN with intraoral blue nevus in a 24-year-old male patient.

Congenital Uterine Arteriovenous Malformation Presenting as Postcoital bleeding: A Rare Presentation of a Rare Clinical Condition

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Neha Agarwal

2017-01-01

Full Text Available Congenital uterine arteriovenous malformation (AVM is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.

Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly

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Arshad Bhat, MBBS, DMRD

2016-06-01

Full Text Available Three case reports of a rare congenital anomaly “limb-body wall complex” also known as “body stalk syndrome” are presented with prenatal ultrasonographic diagnostic features, immediate after delivery evaluation, and histopathologic analysis.

Rare combination of left-sided congenital diaphragmatic hernia and omphalocele.

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Chee, Yuet Yee; Wong, Siu Chun Mabel; Wong, Ming Sum Rosanna

2017-08-07

We reported a rare case of left-sided posterolateral congenital diaphragmatic hernia (CDH) and omphalocele, which is not associated with chromosomal abnormalities or other syndromes. Omphalocele was detected antenatally (CDH was not detected in antenatal ultrasound). The patient suffered from respiratory failure secondary to severe pulmonary hypertension. As the combination of CDH and omphalocele is rare and with the abdominal content herniating into the omphalocele instead of the thorax, antenatal diagnosis of such condition can be difficult. Unlike other reported cases in the literature, our patient's respiratory condition has been improving with time and is surviving beyond the infancy period. We believe this to be the first such survival case reported in the literature. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

[Rare case of congenital cystic adenomatoid malformation associated with polycystic kidney disease].

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Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa

2011-01-01

Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.

An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

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Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

2018-05-01

Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

Laparoscopic-assisted surgical reconstruction of a rare congenital abdominal wall defect in two children misdiagnosed with prune-belly syndrome.

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Fishman, Andrew I; Franco, Israel

2013-08-01

Abdominal wall laxity is typically associated with prune-belly syndrome (PBS). Incomplete forms of PBS have been rarely reported with only the abdominal wall laxity. Herein, we describe a rare congenital abdominal wall defect that has been confused with PBS and illustrate the laparoscopic-assisted surgical technique used for reconstruction. Two boys with symmetrical, bilateral absence or hypoplasia of the internal and external oblique muscles and no genitourinary abnormalities underwent a laparoscopic-assisted abdominal wall reconstruction utilizing the technique previously described by Firlit. Each patient had a Ct scan which confirmed the absence of the oblique muscles. In one patient EMG data confirmed no electrical activity of the obliques. Radiologic evaluation of the urinary tracts revealed no abnormalities. The abdominal wall was plicated utilizing bilateral subcostal incisions. Both patients had excellent cosmetic and functional results with no weakness or bulging of the lateral abdominal wall and improvement of associated symptoms. We believe these two cases and their congenital abdominal wall defects are a rare and often misdiagnosed muscular deficiency separate from PBS. The novel laparoscopic-assisted surgical technique illustrated is feasible and highly successful for these and possible other patients with similar rare congenital abdominal wall defects. Copyright © 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

A rare case of congenital insensitivity to pain with anhydrosiss

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Govardhani Yanamadala

2015-01-01

Full Text Available Congenital insensitivity to pain syndrome with anhydrosis (CIPA is a rare inherited disorder. It is characterized by loss of pain and temperature sensation, lack of sweating and mild mental retardation. This disorder belongs to hereditary sensory and autonomic neuropathy family (type IV. Because of these abnormalities, patients require special anesthetic care. They include titration of intraoperative opioids, an anesthetic to ensure co-operation and immobility and intra-operative temperature monitoring. Here we report a 7-year-old female child with CIPA posted for restoration and cementation for dental caries along with sural nerve and skin biopsy.

Congenital insensitivity to pain: Case report of a rare entity

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Swati Dahiya

2018-01-01

Full Text Available Hereditary sensory and autonomic neuropathies (HSANs are a group of disorders characterized by insensitivity to noxious stimuli and autonomic dysfunction, associated with pathological abnormalities of the peripheral nerves. Five types of HSAN have been reported in literature, out of which Type V known as congenital insensitivity to pain (CIP is a rare autosomal recessive condition. Self-mutilation is an invariable feature of this disorder, involving the teeth and orofacial structures. This case report describes a case of a 6-year-old girl with CIP brought by her parents for prostheses to replace her self-extracted primary teeth.

Prenatal imaging of a fetus with the rare combination of a right congenital diaphragmatic hernia and a giant omphalocele.

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Nonaka, Ayasa; Hidaka, Nobuhiro; Kido, Saki; Fukushima, Kotaro; Kato, Kiyoko

2014-11-01

A co-existing right congenital diaphragmatic hernia and omphalocele is rare. We present images of a fetus diagnosed with this rare combination of anomalies. Early neonatal death occurred immediately after full-term birth due to severe respiratory insufficiency. In this case, disturbance of chest wall development due to the omphalocele rather than the diaphragmatic hernia was considered as the main cause of lung hypoplasia. Our experience suggests that caution should be exercised for severe respiratory insufficiency in a neonate with an omphalocele and diaphragmatic hernia, even in the absence of an intra-thoracic liver, one of the indicators of poor outcome for congenital diaphragmatic hernia. © 2014 Japanese Teratology Society.

Congenital pulmonary airway malformation (CPAM) with initial presentation in an adult: a rare presentation of a rare disease.

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Abu Omar, Mohannad; Tylski, Emily; Abu Ghanimeh, Mouhanna; Gohar, Ashraf

2016-09-26

Congenital pulmonary airway malformation (CPAM) is a rare congenital abnormality with unknown exact aetiology or clear genetic association. It is characterised by a failure of bronchial development and localised glandular overgrowth. Typically, it is diagnosed on prenatal ultrasound, only infrequently in children, and even less commonly in adults. We present a case of a 25-year-old man, with no previous lung diseases who presented with right-sided chest pain, fever and cough suggestive of pulmonary infection. Chest imaging, including CT scan, showed a large focal cystic mass within the right lower lobe along with ground glass opacities suggestive of CPAM. He was started on intravenous antibiotics. Bronchoscopy showed a large amount of pus in the right lung and bronchoalveolar lavage confirmed the microbiological diagnosis of methicillin-resistant Staphylococcus aureus. He improved with antibiotic treatment. He was discharged with 6-week course of antibiotics and follow-up afterward. 2016 BMJ Publishing Group Ltd.

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

NARCIS (Netherlands)

Wellesley, Diana; Dolk, Helen; Boyd, Patricia A.; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the

Macrodystrophia lipomatosa – MR imaging of a rare congenital anomaly: review of 3 cases

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Pallavi Aga

2010-12-01

Full Text Available Macrodystrophia lipomatosa (MDL results from progressive overgrowth of all the mesenchymal elements, with a disproportionate increase in fibro-adipose tissue. This rare congenital abnormality occurs most frequently in the distribution of the median nerve in the upper, and medial plantar nerve in the lower, extremity. Excess of unencapsulated fibro-adipose tissue on magnetic resonance imaging (MRI is virtually diagnostic and can differentiate this entity from other diseases with similar presentations. Involvement of the ulnar aspect of the hand, though rare, has been described; however, the lateral aspect of the foot as seen in our second case has not been reported, to the best of our knowledge.

Midline cervical cleft: a rare congenital anomaly.

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Renukaswamy, Gayathri Mandya; Soma, Marlene A; Hartley, Benjamin E J

2009-11-01

A midline cervical cleft (MCC) is a rare congenital anomaly due to failure of fusion of the first and second branchial arches during embryogenesis. It may present as a midline defect of the anterior neck skin with a skin projection or sinus, or as a subcutaneous fibrous cord. This report evaluates the clinical features and surgical management of an MCC. We analyzed a series of 4 patients with an MCC successfully treated at Great Ormond Street Hospital for Children in London. Three male patients and 1 female patient between 4 and 11 months of age were found to have an MCC. Each patient presented with an erythematous, fibrous band of tissue extending between the chin and the suprasternal notch. Treatment comprised surgical excision of the lesion and Z-plasty repair. We present the embryology, common clinical presentation, investigations, differential diagnosis, and histology, along with a literature review, of this uncommon malformation of the anterior neck. An MCC is a differential diagnosis to consider when assessing a child with a midline cervical lesion. Early surgical excision with Z-plasty repair of the soft tissue defect is the treatment of choice to prevent long-term complications.

Novel human CRYGD rare variant in a Brazilian family with congenital cataract

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Giordano, Gabriel Gorgone; Tavares, Anderson; da Silva, Márcio José; de Vasconcellos, José Paulo Cabral; Arieta, Carlos Eduardo Leite; de Melo, Mônica Barbosa

2011-01-01

Purpose To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract. Methods A Brazilian four-generation family was analyzed. The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination. Genomic DNA was extracted from peripheral blood and coding regions and intron/exon boundaries of the αA-crystallin (CRYAA), γC-crystallin (CRYGC), and CRYGD genes were amplified by polymerase chain reaction and directly sequenced. Results Sequencing of the coding regions of CRYGD showed the presence of a heterozygous A→G transversion at c.401 position, which results in the substitution of a tyrosine to a cysteine (Y134C). The polymorphism was identified in three individuals, two affected and one unaffected. Conclusions A novel rare variant in CRYGD (Y134C) was detected in a Brazilian family with congenital cataract. Because there is no segregation between the substitution and the phenotypes in this family, other genetic alterations are likely to be present. PMID:21866214

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

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Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

Clinical significance of circumportal pancreas, a rare congenital anomaly, in pancreatectomy.

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Ohtsuka, Takao; Mori, Yasuhisa; Ishigami, Kousei; Fujimoto, Takaaki; Miyasaka, Yoshihiro; Nakata, Kohei; Ohuchida, Kenoki; Nagai, Eishi; Oda, Yoshinao; Shimizu, Shuji; Nakamura, Masafumi

2017-08-01

Circumportal pancreas is a rare congenital pancreatic anomaly. The aim of this study was to clarify the clinical characteristics of patients with circumportal pancreases undergoing pancreatectomy. The medical records of 508 patients who underwent pancreatectomy were retrospectively reviewed. The prevalence of circumportal pancreas and related anatomical variations were assessed. Surgical procedures and postoperative outcomes were compared in patients with and without circumportal pancreas. Circumportal pancreas was observed in 9 of the 508 patients (1.7%). In all nine patients, the portal vein was completely encircled by the pancreatic parenchyma above the level of the splenoportal junction, and the main pancreatic duct ran dorsal to the portal vein. The rate of variant hepatic artery did not differ significantly in patients with and without circumportal pancreas. Pancreatic fistula developed more frequently in patients with than without circumportal pancreas (44% vs. 14%, p = 0.03), but other clinical parameters did not differ significantly in these two groups. Despite being rare, circumportal pancreas may increase the risk of postoperative pancreatic fistula in patients undergoing pancreatectomy. However, a prospective, large-cohort study is necessary to determine the real incidence of relevant anatomical variations and the definitive clinical significance of this rare anomaly. Copyright © 2016 Elsevier Inc. All rights reserved.

Resolution of vitiligo following excision of halo congenital melanocytic nevus: a rare case report.

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Wang, Kai; Wang, Zhi; Huang, Weiqing

2016-05-01

Halo congenital melanocytic nevus (CMN) associated with vitiligo is rare, especially with regard to CMN excision. Only two reports of excision of halo CMN following repigmentation of vitiligo are found in the literature. We present a case of a girl with halo CMN and periorbital vitiligo. The halo CMN was excised and followed by spontaneous improvement of vitiligo. The result suggests excision of the inciting lesion may be a promising way to control vitiligo. © 2015 Wiley Periodicals, Inc.

Lutembacher's syndrome: A rare combination of congenital and ...

African Journals Online (AJOL)

Because the mitral stenosis was, in fact, rheumatic in aetiology, the syndrome was defined eventually as a combination of congenital atrial septal defect and acquired, almost always rheumatic, mitral stenosis. Keywords:Lutembacher's syndrome, congenital heart disease, valvular heart disease, atrial septal defect, mitral ...

Diagnosis and Management of a Patient with Congenitally Missing Maxillary First Permanent Molars: A Rare Case Report

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Megha Gupta

2016-01-01

Full Text Available Congenitally missing teeth are the most commonly seen dental anomalies. Agenesis of the permanent first molar has the least frequency of all the tooth types, and it usually occurs in association with oligodontia or anodontia. Thus, agenesis of the bilateral maxillary first permanent molar is an extremely rare occurrence, and no such case has been reported in ethnic Saudi Arabian population. We hereby report a case of nonsyndromic bilateral congenitally missing maxillary first permanent molar in an eight-year-old Saudi female patient. Comprehensive oral rehabilitation was done for the patient. The implications of the tooth agenesis are also discussed. The prognosis of this case is presented.

Congenital hypothyroidism presenting with postpartum bradycardia

International Nuclear Information System (INIS)

Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

2013-01-01

Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

Successful pregnancy after office microlaparoscopic correction of tubal herneation for a very rare congenital fimbrial-ovarian relationship, a case report

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Emad M. Siam

2011-09-01

Here, a case is described in which a very rare congenital tubo-ovarian relationship had been observed and assessed during routine laparoscopy to discover the cause of delayed conception after previous spontaneous pregnancy. This very rare tubo-ovarian relationship had been observed directly using a newly advanced fiber optic 2 mm microlaparoscopic set, in an office procedure under augmented local anesthesia in stead of the conventional 10 mm laparoscopy.

Congenital Constriction Band Syndrome

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Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

2008-01-01

Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

Congenital symmastia revisited

DEFF Research Database (Denmark)

Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

2012-01-01

Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

Unusual Congenital Aortic Anomaly with Rare Common Celiamesenteric Trunk Variation: MR Angiography and Digital Substraction Angiography Findings

International Nuclear Information System (INIS)

Tosun, Ozgur; Sanlidilek, Umman; Cetin, Huseyin; Ozdemir, Ozcan; Kurt, Aydin; Sakarya, Mehmet Emin; Tas, Ismet

2007-01-01

Magnetic resonance angiography and digital substraction angiography (DSA) findings in a case with a rare congenital thoracoabdominal aortic hypoplasia and common celiamesenteric trunk variation with occlusion of infrarenal abdominal aorta are described here. To our knowledge, this aortic anomaly has not been previously described in the English literature. DSA is the optimum imaging modality for determination of aortic hypoplasia, associated vascular malformations, collateral vessels, and direction of flow within vessels

Omphalocele with Dextrocardia - A Rare Association

OpenAIRE

Vikal Chandra Shakya; C S Agrawal; N R Shrestha; K Dhungel; S Adhikary

2009-01-01

Omphalocele is frequently associated with many other congenital malformations. In cardiac anomalies, association of omphalocele with dextrocardia has been rarely noticed before. We present here a child with dextrocardia and omphalocele alongwith a brief review of the literature on this rare association. Key Words: congenital malformations, dextrocardia, omphalocele

Congenital chylous ascites

International Nuclear Information System (INIS)

Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

2011-01-01

Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

DEFF Research Database (Denmark)

Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

2012-01-01

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...... currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.246....

A case of hypoplasia of left lung with very rare associations with congenital absence of left pulmonary artery and right-sided aortic arch

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Trilok Chand

2017-01-01

Full Text Available The absence of one of the pulmonary artery with associated hypoplasia of lung and great vessel abnormality is a rare finding. The incidence of this rare congenital abnormality is around 1 in 200,000 live birth. The absence of the left side pulmonary artery is again uncommon, and associated cardiac malformations are usually tetralogy of fallot or septal defects rather than an aortic arch defect. Our case is a unique case in It’s associated congenital anomalies. He was presented with recurrent pneumothorax and hemoptysis, and on thorough workup, he was diagnosed to have an absence of left pulmonary artery with hypoplasia of the left lung and associated right-sided aortic arch. The patient’s family has declined the surgical option, and he was managed conservatively and kept in close follow-up.

Cake kidney: a rare anomaly of renal fusion

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Guilherme Lippi Ciantelli

2012-06-01

Full Text Available ABSTRACT The cake kidney is a rare congenital anomaly of the urinogenital tract that can be diagnosed at any age. Few more than 20 cases have been described in the literature. The authors describe in this article another case of this rare malformation. Key-words: kidney, congenital abnormalities, rare diseases.

Multifocal Congenital Hemangiopericytoma.

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Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

2017-01-01

Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

Early detection of congenital syphilis

Directory of Open Access Journals (Sweden)

Nagalakshmi Chowdhary

2014-01-01

Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

Congenital segmental dilatation of the colon

African Journals Online (AJOL)

Congenital segmental dilatation of the colon is a rare cause of intestinal obstruction in neonates. We report a case of congenital segmental dilatation of the colon and highlight the clinical, radiological, and histopathological features of this entity. Proper surgical treatment was initiated on the basis of preoperative radiological ...

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

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Flavio Mantelli

2015-01-01

Full Text Available Neurotrophic keratitis (NK is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.

Ambras syndrome: A rare case report

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A Ishita

2016-01-01

Full Text Available Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS, which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

CONGENITAL EYELID EVERSION - A CASE REPORT WITH REVIEW OF LITERATURE

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Chinmayee

2015-03-01

Full Text Available INTRODUCTION: Congenital eversion of the eyelids, a condition usually seen shortly after birth is a rare condition affecting one or both eyelids of the eye. Many etiologies have been described but no specific cause has been identified. We report a case of congenital eve rsion of eyelids which was managed conservatively with spontaneous correction seen in 6 days. KEYMESSAGE: Congenital eversion of the eyelids is a rare easily identifiable and potentially treatable condition. Decision of surgical intervention has to be take n with care and must be individualized for each case. Congenital eversion must be differentiated from congenital ectropion due to causes like ichthyosis as the treatment widely differs. All ophthalmologists need to be aware of this condition as it can be e asily managed on an outpatient basis

Isolated bilateral congenital lacrimal gland agenesis – Report of two cases

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Manar Alwohaib

2017-10-01

Full Text Available Congenital lacrimal gland agenesis, also called congenital alacrima, is a rare cause of dry eye and is characterized by aplasia or hypoplasia of lacrimal glands. We present two 5-year old children with congenital lacrimal gland agenesis. The two cases had the final diagnosis of isolated bilateral congenital lacrimal gland agenesis and we document the clinical aspects, treatment and present a literature review related to this rare condition. Keywords: Alacrima, Lacrimal gland, Lacrimal gland agenesis, Punctal plugs

Congenital bilateral neuroblastoma (stage IV-S): case report

International Nuclear Information System (INIS)

Lee, Jeong Hee; Lee, Hee Jung; Woo, Seong Ku; Lee, Sang Rak; Kim, Heung Sik

2002-01-01

Congenital neonatal neuroblastoma is not uncommon but bilateral adrenal neuroblastoma is rare, accounting for about ten percent of neuroblastomas in children. We report the US the MR findings of a stage IV-S congenital bilateral neuroblastoma occurring in a one-day-old neonate

Congenital lobar emphysema: Is surgery routinely necessary ...

African Journals Online (AJOL)

Congenital lobar emphysema (CLE) is a rare congenital abnormality characterised by overinflation of a pulmonary lobe. Its aetiology is unknown. The management of CLE has traditionally been surgical. A newborn boy with a birthweight of 2.5 kg was delivered at full-term by caesarian section due to food delivery.

Congenital Amputation Involving the Hands and Feet: A Case Report

African Journals Online (AJOL)

There were forefoot amputations on both lower limbs. Scars were noticed over the amputation stumps with no associated congenital anomaly. Conclusion: Congenital amputation involving all limbs as an isolated entity is a rare condition; the cause of which is probably as a result of congenital amniotic bands. Keywords: ...

Congenital pelvic arteriovenous malformation: uncommon symptoms of lower limb venous hypertension.

Science.gov (United States)

Akimaro Kudo, F; Nishibe, T; Miyazaki, K; Flores, J; Yasuda, K

2001-12-01

Congenital pelvic arteriovenous malformations (AVMs) are rare and their clinical behavior is quite variable. A case of congenital pelvic AVM manifesting with unusual extrapelvic symptoms of ipsilateral leg pain is described. The causes of symptoms associated with congenital pelvic AVMs are discussed.

Congenital intestinal lymphangiectasia. A case report

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Georgios Mitsiakos

2017-12-01

Full Text Available Congenital intestinal lymphangiectasia, first described by Waldmann et al. in 1961, is a rare congenital malformation of the lymphatics, presented with generalized edema, hypoproteinemia and lymphopenia. Diagnosis is based on endoscopy findings and pathology.We present here a case of a male neonate, second child of an indigenous woman, delivered by caesarean section. Prenatally, multiple cystic abdominal masses were identified by ultrasound. The patient was treated successfully with enterectomy and anastomosis. Histopathology revealed primary intestinal lymphangiectasia with no features of malignancy.Intestinal lymphangiectasia is a rare pathology, which should be differentiated while exploring abdominal masses, hypoproteinemia and edema especially in neonates.

Congenital Hepatic Cyst

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Aldo Recinos

2017-04-01

Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

Sirenomelia associada a defeitos congênitos raros: relato de três casos Sirenomelia associated with rare congenital defects: report of three cases

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Maria Angélica F. D. Lima

2012-08-01

Full Text Available Sirenomelia é um defeito congênito muito raro do campo primário do desenvolvimento, definido pela substituição dos membros inferiores, normalmente pareados por um único membro mediano. Geralmente, associa-se a graus variados de anomalias gênito-urinárias. Relatamos três casos necropsiados dessa entidade, incluindo estudo radiológico do membro inferior único, associados a agenesia renal bilateral, de ureteres e da bexiga, atresia retal, ânus imperfurado, testículos abdominais e ausência de genitália externa, além de outros defeitos congênitos infrequentemente observados, que somente puderam ter seus diagnósticos firmados por meio da necropsia.Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb. It is commonly associated with varied genitourinary anomalies. We report three cases of sirenomelia including x-ray documentation of the lower limb. Other associated aspects, whose diagnoses were established exclusively through autopsy, included bilateral renal, ureteral and bladder agenesis, rectal atresia, imperforate anus, intra-abdominal testis, absence of external genitalia and other rare congenital abnormalities.

Congenital Diverticular Disease of the Entire Colon

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A. Patel

2013-01-01

Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX.

Science.gov (United States)

Cremonini, Giorgio; Poggi, Alice; Capucci, Roberta; Vesce, Fortunato; Patella, Alfredo; Marci, Roberto

2014-01-01

Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features. © 2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology.

Anaesthetic management of a child with "cor-triatriatum" and multiple ventricular septal defects - A rare congenital anomaly

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Sriram Sabade

2010-01-01

Full Text Available Cor-triatriatum is a rare congenital cardiac anomaly. It accounts for 0.1% of congenital heart diseases. Its association with multiple ventricular septal defects (VSD is even rarer. A five-month-old baby was admitted with respiratory distress and failure to thrive. Clinical examination revealed diastolic murmur over mitral area. Chest X-ray showed cardiomegaly. Haematological and biochemical investigations were within normal limits. Electrocardiogram showed left atrial enlargement. 2D echo showed double-chambered left atrium (cor-triatriatum, atrial septal defect (ASD and muscular VSD with moderate pulmonary arterial hypertension. The child was treated with 100% oxygen, diuretics and digoxin and was stabilized medically. We used balanced anaesthetic technique using oxygen, air, isoflurane, fentanyl, midazolam and vecuronium. Patient was operated under cardiopulmonary bypass (CPB with moderate hypothermia. Through right atriotomy abnormal membrane in the left atrium was excised to make one chamber. VSD were closed with Dacron patches and ASD was closed with autologous pericardial patch. Patient tolerated the whole procedure well and was ventilated electively for 12h in the intensive care unit. He was discharged on the 10 th postoperative day.

Renal abnormalities in congenital chloride diarrhea

International Nuclear Information System (INIS)

Al-Hamad, Nadia M.; Al-Eisa, Amal A.

2004-01-01

Congenital chloride diarrhea CLD is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride >90 mmol/l. We report 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome. (author)

Congenital extraskeletal Ewing's sarcoma of chest wall--a rare case report.

Science.gov (United States)

Atla, Bhagyalakshmi; Prasad, B Satya Vara; Sri, K Satya; Vandana, Geeta

2011-01-01

Congenital extraskeletal Ewing's sarcoma or peripheral primitive neuroectodermal tumor is an extremely uncommon and invariably fatal tumor. We report a case of extraskeletal congenital Ewing's sarcoma in a female fetus delivered at 34 weeks of gestation who died immediately after birth. In English literature, majority of cases of Ewing's sarcoma in neonates reported were skeletal. To the best of our knowledge, very few cases of extra-skeletal Ewing's sarcoma in neonates are reported in the literature.

Imaging diagnosis of congenital heart disease with single coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin; Sun Aimin

2003-01-01

Objective: To report 56 cases of congenital heart disease with congenital single coronary artery and to evaluate the imaging diagnostic techniques. Methods: All 56 patients with congenital single coronary artery underwent angiocardiography. Contrast enhancement magnetic resonance angiography (CE MRA) was performed in 4 cases. 48 cases were confirmed by operation. Results: In these 56 cases, single left coronary artery was found in 44 cases and single right coronary artery was found in 12. Conclusion: Congenital heart disease with congenital single coronary artery is not rare and correct diagnosis is very important for surgery

An Atypical Presentation of Congenital Pulmonary Airway Malformation (CPAM): A Rare Case with Antenatal Ultrasound Findings and Review of Literature.

Science.gov (United States)

Gautam, Munnangi Satya; Naren Satya, Srinivas M; Prathyusha, Ivvala Sai; Reddy, K Hema Chandra; Mayilvaganan, Kamala Retnam; Raidu, Deepthi

2017-01-01

Congenital pulmonary airway malformation (CPAM) is a relatively rare congenital anomaly with a wide spectrum of ultrasound features depending on the specific variety of CPAM. Antenatal ultrasound is a valuable, safe, nonionizing, cost-effective, widely available and easily reproducible imaging tool and is indispensable in the diagnosis of CPAM. In this paper, we aimed to report an atypical imaging presentation of CPAM type II in the second trimester, extensively involving all lobes of the left lung. A 25-year-old G1P0A0 woman with a gestational age of around 22 weeks was referred for an anomaly scan. The antenatal ultrasound scan showed a single, live, intrauterine foetus corresponding to a gestational age of around 22 weeks and 4 days. There were multiple, anechoic structures noted within the pulmonary tissue in the left hemithorax, each measuring around 3 to 4 mm in diameter. The lesion was extending from the left lower lobe up to the apical (apicoposterior) segment of the left upper lobe. The ultrasound diagnosis of congenital pulmonary airway malformation type II was made. After explaining the condition and the poor prognosis to the patient, an informed consent was obtained after she opted for medical termination of pregnancy. Congenital pulmonary airway malformation (CPAM) is an uncommon foetal anomaly with a very wide range of ultrasound appearances depending on the specific type of CPAM. CPAM also has a wide spectrum of differential diagnoses and a variable prognosis. Antenatal ultrasound should always be the primary mode of diagnosis in CPAM.

Ascites alone as the presentation of Congenital Tuberculosis

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S Purkait

2015-06-01

Full Text Available Congenital tuberculosis is a rare disease. It usually presents with respiratory distress, fever and organomegaly. We report a case of congenital tuberculosis presenting with ascites only.DOI: http://dx.doi.org/10.3126/jcmsn.v10i1.12766 Journal of College of Medical Sciences-Nepal, 2014, Vol.10(1; 37-40

Congenital Mucous Retention Cyst of the Anterior Hard Palate! the First Case Report

OpenAIRE

Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-01-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or ‘Neuman’s Tumour’ as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed...

Survey of Pediatric Infectious Diseases Society Members About Congenital Chagas Disease.

Science.gov (United States)

Edwards, Morven S; Abanyie, Francisca A; Montgomery, Susan P

2018-01-01

Participants in a survey about congenital Chagas disease, distributed electronically to Pediatric Infectious Diseases Society members, perceived having limited knowledge about congenital Trypanosoma cruzi infection. Most rarely or never consider the diagnosis in infants born to parents from Latin America. Improved awareness of congenital Chagas disease and assessment of at-risk infants is needed.

Congenital diplopodia

International Nuclear Information System (INIS)

Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

2003-01-01

Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

CT appearance of congenital defect resembling the Hangman's fracture

International Nuclear Information System (INIS)

Williams, J.P. III; Baker, D.H.; Miller, W.A.

1999-01-01

Purpose. Congenital defects of C2 are rare and can be confused with Hangman's fractures. CT has been advocated as aiding in differentiation between an acute fracture and congenital defects. Methods. We present a case of a 2-year-old recent accident victim, who was erroneously diagnosed by plain film and CT as having a Hangman's fracture. Results. The CT demonstrated an atypical appearance of a congenital defect. Conclusion. This case shows that the radiographic differentiation between a Hangman's fracture and a congenital defect is more difficult than previously described. (orig.)

Congenital self-healing reticulohistiocytosis - an important diagnostic challenge

DEFF Research Database (Denmark)

Jensen, Marie Louise Slott; Bygum, Anette; Clemmensen, Ole

2011-01-01

Aim:  To present current and new knowledge on congenital self-healing reticulohistiocytosis, a benign variant of cutaneous Langerhans cell histiocytosis presenting with skin lesions in the neonatal period. Methods:  We describe and photo document two cases of this rare disease and review the lite......Aim:  To present current and new knowledge on congenital self-healing reticulohistiocytosis, a benign variant of cutaneous Langerhans cell histiocytosis presenting with skin lesions in the neonatal period. Methods:  We describe and photo document two cases of this rare disease and review...... the literature. Results:  Only few newborns have acute access to a neonatal dermatologist and we demonstrate how the spontaneous cutaneous involution may happen even prior to the first dermatological assessment. As no sole criterion can reliably distinguish the self-healing form from disseminated disease......, multidisciplinary assessment and follow up are essential. Conclusion:  Our data document how easily the diagnosis congenital self-healing reticulocytosis may be missed and emphasize the importance and value of instant clinical photographing at the neonatal unit and the use of teledermatology whenever congenital...

Genetics Home Reference: congenital hyperinsulinism

Science.gov (United States)

... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

Congenital extracranial meningioma

International Nuclear Information System (INIS)

Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

1995-01-01

The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

Congenital tumors of the central nervous system

International Nuclear Information System (INIS)

Severino, Mariasavina; Schwartz, Erin S.; Thurnher, Majda M.; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

2010-01-01

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease

Congenital maxillary double lip

Directory of Open Access Journals (Sweden)

Dinesh Singh Chauhan

2012-01-01

Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

NARCIS (Netherlands)

Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.

2012-01-01

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25

European recommendations for primary prevention of congenital anomalies: A joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans

DEFF Research Database (Denmark)

Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca

2014-01-01

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention t...

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly.

Science.gov (United States)

Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar

2015-10-01

Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.

Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly

Directory of Open Access Journals (Sweden)

Debangshu Ghosh

2015-01-01

Full Text Available Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR which is a good alternative to lacrimal probing or open DCR in such a case.

Chondroectodermal dysplasia: a rare syndrome.

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Dana Tahririan

2014-06-01

Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

Solitary ulcerated congenital giant juvenile xanthogranuloma

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Su Yuen Ng

2015-01-01

Full Text Available A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.

A Newborn with Congenital Mixed Phenotype Acute Leukemia After In Vitro Fertilization

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Hacer Ergin

2015-08-01

Full Text Available Congenital leukemia is a rare disease. The majority of cases of this disease are acute myelogenous leukemia (AML. Congenital acute lymphoblastic leukemia (ALL is rare and most often is of B cell lineage. Rarely, some cases have been designated biphenotypic or mixed phenotype acute leukemia (MPAL. Herein, we report a preterm newborn referred to us as a result of the appearance of blue-violaceous dermal nodules on her body at birth. She was a twin and the product of an in vitro fertilization (IVF pregnancy. Physical examination showed jaundice, hepatosplenomegaly, and peripheral facial nerve palsy in addition to dermal nodules. Bone marrow aspiration showed 40% blasts of lymphoid lineage; skin biopsy and its immunohistochemistry revealed myeloblastic infiltration of the dermis. Cytogenetic analysis (46,XX, fluorescence in situ hybridization (FISH analysis, and cranial magnetic resonance were normal. The patient was diagnosed with congenital MPAL, and an association between IVF and congenital leukemia was suggested.

Congenital tumors of the central nervous system

Energy Technology Data Exchange (ETDEWEB)

Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

2010-06-15

Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors

A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.

Science.gov (United States)

Khattab, Ahmed; Yuen, Tony; Al-Malki, Sultan; Yau, Mabel; Kazmi, Diya; Sun, Li; Harbison, Madeleine; Haider, Shozeb; Zaidi, Mone; New, Maria I

2016-01-01

Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is caused by the autosomal recessive inheritance of mutations in the gene CYP21A2. CYP21A2 mutations lead to variable impairment of the 21-hydroxylase enzyme, which, in turn, is associated with three clinical phenotypes, namely, salt wasting, simple virilizing, and nonclassical CAH. However, it is known that a given mutation can associate with different clinical phenotypes, resulting in a high rate of genotype-phenotype nonconcordance. We aimed to study the genotype-phenotype nonconcordance in a family with three siblings affected with nonclassical CAH. All had hormonal evidence of nonclassical CAH, but this phenotype could not be explained by the genotype obtained from commercial CYP21A2 genetic testing, which revealed heterozygosity for the maternal 30 kb deletion mutation. We performed Sanger sequencing of the entire CYP21A2 gene in this family to search for a rare mutation that was not covered by commercial testing and found in the three siblings a second, rare c.1097G>A (p.R366H) mutation in exon 8. Computational modeling confirmed that this was a mild mutation consistent with nonclassical CAH. We recommend that sequencing of entire genes for rare mutations should be carried out when genotype-phenotype nonconcordance is observed in patients with autosomal recessive monogenic disorders, including CAH. © 2015 New York Academy of Sciences.

Junctional ectopic tachycardia following repair of congenital heart ...

African Journals Online (AJOL)

Background: Postoperative junctional ectopic tachycardia (JET) is a rare and transient phenomenon occurring after repair of congenital heart defects. Report on this arrhythmia in the subregion is rare. We set out to determine the incidence of this arrhythmia and review the treatment and outcomes of treatment in our centre.

Congenital cystic eyeball

Directory of Open Access Journals (Sweden)

Gupta V

1990-01-01

Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

Congenital Symmastia: A 3-Step Approach

OpenAIRE

Sadaka, Mohamed Saad; Allam, Atef A.

2016-01-01

Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this con...

Congenital Symmastia: A 3-Step Approach

Science.gov (United States)

Allam, Atef A.

2016-01-01

Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition. PMID:28293510

Congenital pulmonary airway malformation in a 36 year-old female

OpenAIRE

Barreiro, Timothy J.; Henn, Lucas; Ingnam, Sisham; Sypert, Michael

2015-01-01

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation (CCAM), is an inborn abnormality of the lower respiratory system. Most often diagnosed in the perinatal period, these anomalies usually present with tachypnea, cyanosis, and respiratory distress. However, rare cases are asymptomatic and undiagnosed until adulthood.

Congenital upper lid eversion and severe chemosis in a new born

African Journals Online (AJOL)

2013-06-28

Jun 28, 2013 ... The purpose of this study is to report a case of bilateral congenital ... parents noticed a reddish fleshy swelling over the eyes and this made it ... Congenital upper eyelid eversion is a rare clinical entity even though it is said.

Congenital Liver Cyst in a Neonatal Calf

Directory of Open Access Journals (Sweden)

Nora Nogradi

2013-01-01

Full Text Available Congenital serous cysts attached to the liver capsule are usually small and multiple, but can be solitary, grow extremely large, and become symptomatic. They are considered rare incidental findings during laparotomies or necropsies and thier occurrence is well described in the human literature, with limited reports from the veterinary literature. This report describes the ante-mortem diagnosis and successful surgical removal of a large congenital liver cyst in a neonatal calf.

Congenital absence of the portal vein in a child with Turner syndrome

International Nuclear Information System (INIS)

Noe, Jacob A.; Burton, Edward M.; Pittman, Heather C.

2006-01-01

Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

Congenital absence of the portal vein in a child with Turner syndrome

Energy Technology Data Exchange (ETDEWEB)

Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

2006-06-15

Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

Congenital Pulmonary Malformation in Children

OpenAIRE

Nadeem, Montasser; Elnazir, Basil; Greally, Peter

2012-01-01

Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

Congenital lymphoedema of the genitalia

NARCIS (Netherlands)

Bolt, R. J.; Peelen, W.; Nikkels, P. G.; de Jong, T. P.

1998-01-01

Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce

Congenital imprinting disorders

DEFF Research Database (Denmark)

Eggermann, Thomas; Netchine, Irène; Temple, I Karen

2015-01-01

Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

Congenital chondromyxoid fibroma of the ethmoid: case report

International Nuclear Information System (INIS)

Mendoza, M.; Gonzalez, I.; Aperribay, M.; Nogues, A.; Hermosa, J.R.

1998-01-01

This report describes a congenital case of chondromyxoid fibroma (CMF) arising from the ethmoid bone. We believe it to be the second case of congenital CMF that has been documented, and the third case of CMF arising in the ethmoid. We describe the radiographic features of this rare entity and indicate the necessity for careful correlation between radiographic and histological findings to distinguish CMF from chondrosarcoma. (orig.)

Paleodysmorphology and paleoteratology: Diagnosing and interpreting congenital conditions of the skeleton in anthropological contexts

NARCIS (Netherlands)

Oostra, Roelof-Jan; Boer, Lucas; van der Merwe, Alie E.

2016-01-01

Most congenital conditions have low prevalence, but collectively they occur in a few percent of all live births. Congenital conditions are rarely encountered in anthropological studies, not least because many of them have no obvious effect on the skeleton. Here, we discuss two groups of congenital

[Congenital cardiopathy and cerebral abscess].

Science.gov (United States)

Paixão, A; de Andrade, F F; Sampayo, F

1989-01-01

During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

Japanese family with congenital factor VII deficiency.

Science.gov (United States)

Sakakibara, Kanae; Okayama, Yoshiki; Fukushima, Kenji; Kaji, Shunsaku; Muraoka, Michiko; Arao, Yujiro; Shimada, Akira

2015-10-01

Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered. © 2015 Japan Pediatric Society.

Polymicrogyria and Congenital Parvovirus B19 Infection

Directory of Open Access Journals (Sweden)

Grant S. Schulert

2011-12-01

Full Text Available Fetal parvovirus B19 infection causes anemia, hydrops, and pregnancy loss but is generally not considered teratogenic. Nevertheless, disturbances of neuronal migration have been described with congenital parvovirus infection. We evaluated a term infant with congenital parvovirus disease and polymicrogyria. We compared this case with four other reports of central nervous system disease after birth to parvovirus-infected mothers. After an extensive diagnostic evaluation, this infant was found to have congenital parvovirus disease with severe anemia and nonimmune hydrops as well as extensive polymicrogyria. Although rare, this report and literature review suggest that parvovirus B19 has the potential to disrupt normal neurodevelopment. We suggest that infants with severe congenital parvovirus infection have close developmental surveillance and if symptomatic undergo neuroimaging to assess for disorders of neuromigration.

Congenital deformity of the distal extremities in three dogs | Di Dona ...

African Journals Online (AJOL)

Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical and radiographic findings in three dogs with congenital deformity involving ...

Congenital generalized lipodystrophia: a case report

International Nuclear Information System (INIS)

Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V.

1995-01-01

Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs

Congenital megalourethra in 2 weeks old boy associated with Prune-Belly syndrome

Directory of Open Access Journals (Sweden)

Lawal Barau Abdullahi

2015-02-01

Full Text Available The megalourethra is a rare congenital anomaly of the penile urethra. It is characterized by the congenital absence of the corpus spongiosum and/or corpus cavernosum. It is especially common associated with Prune-Belly syndrome, and with upper tract abnormalities. We present a 2 weeks old boy with congenital megalourethra because of its association with the Prune-Belly syndrome.

Congenital extraskeletal Ewing′s sarcoma of chest wall - A rare case report

OpenAIRE

Bhagyalakshmi Atla; B Satya Vara Prasad; K Satya Sri; Geeta Vandana

2011-01-01

Congenital extraskeletal Ewing′s sarcoma or peripheral primitive neuroectodermal tumor is an extremely uncommon and invariably fatal tumor. We report a case of extraskeletal congenital Ewing′s sarcoma in a female fetus delivered at 34 weeks of gestation who died immediately after birth. In English literature, majority of cases of Ewing′s sarcoma in neonates reported were skeletal. To the best of our knowledge, very few cases of extra-skeletal Ewing′s sarcoma in neonates are reported in the li...

Congenital extraskeletal Ewing′s sarcoma of chest wall - A rare case report

Directory of Open Access Journals (Sweden)

Bhagyalakshmi Atla

2011-01-01

Full Text Available Congenital extraskeletal Ewing′s sarcoma or peripheral primitive neuroectodermal tumor is an extremely uncommon and invariably fatal tumor. We report a case of extraskeletal congenital Ewing′s sarcoma in a female fetus delivered at 34 weeks of gestation who died immediately after birth. In English literature, majority of cases of Ewing′s sarcoma in neonates reported were skeletal. To the best of our knowledge, very few cases of extra-skeletal Ewing′s sarcoma in neonates are reported in the literature.

Congenitally corrected transposition of great arteries with ischemic symptoms in middle age

International Nuclear Information System (INIS)

Zaidi, Syed M.; Al-Sharary, Mabrooke M.; Sajid, Najeb U.; Al-Khuwaitir, Tarig S.

2007-01-01

Congenitally corrected transposition of great arteries (CCTGA) is a rare congenital disease first described by Von Rokitansky in 1875. Transposition of the great arteries comprises 2.6-7.8% of all cases of congenital heart disease, and if uncorrected, is commonly fatal in first year of life. Patients with corrected transposition of the great arteries without associated defects may remain undiagnosed until adult life. Symptoms occur rarely before the fourth and fifth decades, when rhythm disturbance, left atrioventricular valve regurgitation and moderately impaired systemic ventricular function cause congestive cardiac failure. We report here a case of drug overdose with ischemic symptoms and CCTGA without associated anomalies in a 40-year-old male. (author)

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE AND CONGENITAL HEPATIC FIBROSIS: SUMMARY STATEMENT OF A FIRST NATIONAL INSTITUTES OF HEALTH/OFFICE OF RARE DISEASES CONFERENCE

Science.gov (United States)

Gunay-Aygun, Meral; Avner, Ellis D.; Bacallo, Robert L.; Choyke, Peter L.; Flynn, Joseph T.; Germino, Gregory G.; Guay-Woodford, Lisa; Harris, Peter; Heller, Theo; Ingelfinger, Julie; Kaskel, Frederick; Kleta, Robert; LaRusso, Nicholas F.; Mohan, Parvathi; Pazour, Gregory J.; Shneider, Benjamin L.; Torres, Vicente E.; Wilson, Patricia; Zak, Colleen; Zhou, Jing; Gahl, William A.

2010-01-01

Researchers and clinicians with expertise in autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) and related fields met on May 5-6, 2005, on the National Institutes of Health (NIH) campus for a 1.5-day symposium sponsored by the NIH Office of Rare Diseases, the National Human Genome Research Institute (NHGRI), and in part by the ARPKD/CHF Alliance. The meeting addressed the present status and the future of ARPKD/CHF research. PMID:16887426

Congenital Pulmonary Malformation in Children

Directory of Open Access Journals (Sweden)

Montasser Nadeem

2012-01-01

Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

Congenital milia En plaque on scalp

Directory of Open Access Journals (Sweden)

Sangita Ghosh

2015-01-01

Full Text Available Milia en plaque is a rare disease entity characterized by confluence of multiple keratin-filled cysts resulting from the obstruction of hair follicle without any preceding primary dermatosis. Fewer than 40 cases have been reported so far in dermatological literature, and most cases are described to occur in adults and in the peri-auricular area. We describe a case of congenital MEP on scalp of a five-year-old boy with a blaschkoid extension into posterior nuchal area. This case report claims its uniqueness because of the unusual site and congenital presentation.

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.

Science.gov (United States)

Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca; Barisic, Ingeborg; Bermejo-Sánchez, Eva; Bianchi, Fabrizio; Calzolari, Elisa; Carbone, Pietro; Curran, Rhonda; Garne, Ester; Gatt, Miriam; Latos-Bieleńska, Anna; Khoshnood, Babak; Irgens, Lorentz; Mantovani, Alberto; Martínez-Frías, Maria Luisa; Neville, Amanda; Rißmann, Anke; Ruggeri, Stefania; Wellesley, Diana; Dolk, Helen

2014-01-01

Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe. © 2014 S. Karger AG, Basel.

Congenital multifocal osteomyelitis at 24 weeks' gestation

International Nuclear Information System (INIS)

Raupp, Peter; Shubbar, Adil; Baichoo, Vijaymani; Samson, Gregory

2007-01-01

We report an extremely rare case of congenital nonsyphilitic osteomyelitis in a very preterm infant, providing a unique illustration of the radiological appearances at birth, which may serve as a reference to facilitate diagnosis. (orig.)

Prosthetic management of congenital anophthalmia-microphthalmia patient

Directory of Open Access Journals (Sweden)

Himanshi Aggarwal

2015-01-01

Full Text Available Congenital anophthalmia and microphthalmia are rare developmental defects of the globe that cause deficient orbitofacial growth and impaired visual capability. Anophthalmia whether congenital or acquired is not just a question of cosmesis. It has many ramifications such as monocular status, loss of facial esthetics and psychological challenges for a growing child. The management of such a patient requires the coordinated involvement of a multidisciplinary team of health care professionals, including pediatrician, pediatric ophthalmologist, geneticist, genetic counselor, oculoplasty surgeon, and prosthetist. This article focuses on the rehabilitation of an adult female patient with congenital anophthalmia who was successfully treated with progressive expansion therapy with custom conformer followed by custom ocular prosthesis.

Presence of accessory penis, colonic duplication and several other congenital anomalies in a child: a very rare association.

Science.gov (United States)

Chatterjee, Sayan; Mondal, Prabodh Chandra; Pandey, Shashi Bhushan; Achar, Arun

2014-10-01

An accessory penis is a very rare anomaly. Only five cases have been reported thus far to our knowledge. We present the case of a child aged 2 years and 10 months who had a penis-like structure (containing phallus and glans) attached to the right buttock. Associated anomalies were a non-communicating type of colonic duplication, a paramedian stenosed anal opening, a horse-shoe kidney, posterior urethral valves, scoliosis of the lumbo-sacral spine, polydactyly and equino-varus deformity of the right foot. As far as we can tell, this is the first report of an accessory penis associated with colonic duplication and other congenital anomalies. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

International Nuclear Information System (INIS)

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

1990-01-01

Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report

Directory of Open Access Journals (Sweden)

Kazandjieva Jana

2016-03-01

Full Text Available Congenital generalized hypertrichosis, in its most common form, is idiopathic. In the absence of underlying endocrine or metabolic disorders, congenital generalized hypertrichosis is rare in humans, affecting as few as one in a billion individuals and may be an isolated condition of the skin, or a component feature of other disorders or syndromes. Congenital generalized hypertrichosis terminalis is an extremely rare condition, a distinct subset of disorders with congenital hypertrichosis, presenting with excessive hair as the primary clinical feature. Congenital generalized hypertrichosis terminalis is characterized by universal excessive growth of pigmented terminal hair and often accompanied with gingival hyperplasia and/or a coarse face. Gingival hyperplasia may be delayed even until puberty. Its pathogenesis may be caused by one of the following mechanisms: conversion of vellus to terminal hairs and/or prolonged anagenetic stage, and/or increase in the number of hair follicles. Since the Middle Ages, less than 60 individuals with congenital hypertrichosis terminalis have been described, and, according to the most recent estimates, less than 40 cases were documented adequately and definitively in the literature. Recent articles identified congenital generalized hypertrichosis terminalis as a genomic disorder.

Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula.

Science.gov (United States)

Raj, Prince; Birua, Hirendra

2017-01-01

Congenital pouch colon (CPC) or short colon syndrome is a rare type of anorectal malformation(ARM). Type V is the rarest form of CPC. We present a 1-day-old male child with type V CPC with prune belly syndrome and congenital anterior urethrocutaneous fistula (CAUF).

Agenesis of internal carotid artery associated with congenital anterior hypopituitarism

International Nuclear Information System (INIS)

Moon, W.-J.; Porto, L.; Lanfermann, H.; Zanella, F.E.; Weis, R.

2002-01-01

We report a rare case of unilateral agenesis of the internal carotid artery in association with congenital anterior hypopituitarism. The collateral circulation is supplied by a transsellar intercavernous anastomotic vessel connecting the internal carotid arteries. These abnormalities are well depicted on MRI and MRA. The agenesis of the internal carotid artery may explain the pathogenesis of some of congenital anterior hypopituitarism. (orig.)

[Congenital dislocation of the knee: report of 2 cases].

Science.gov (United States)

Ochoa Gómez, L; Sánchez Gimeno, J; García Barrecheguren, E; Marulanda Del Valle, K; Almonte Adón, K; Guerrero Laleona, C

2015-01-01

Congenital dislocation of the knee is a rare disease. The diagnosis is made at birth by clinical findings, and confirmed radiologically. It has been associated with various etiologies from intrauterine fetal malpositions to genetic disorders. The prognosis depends on early treatment and whether there are other congenital anomalies. We report two new cases of congenital dislocation of the knee, observed in our hospital during the period of a month, diagnosed immediately after birth, and both with a good clinical outcome. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

Bilateral congenital absence of flexor pollicis longus with thumb hypoplasia and thenar atrophy

International Nuclear Information System (INIS)

Chaudhary, Vikas; Sehgal, Harsha; Bano, Shahina; Parmar, Pranjali R; Kumar, Sanjay

2014-01-01

Congenital absence of flexor pollicis longus with or without associated anomalies of thenar muscles and thumb is of rare occurrence. Inability to flex the interphalangeal joint of the thumb and absent dorsal wrinkles and flexion creases of the thumb are important clues to the diagnosis. Routine radiography and cross-sectional imaging help to confirm and document the condition. This article presents an extremely rare case of bilateral congenital absence of flexor pollicis longus tendon with thumb hypoplasia and thenar atrophy

Congenital mucous retention cyst of the anterior hard palate! The first case report.

Science.gov (United States)

Misra, Satya Ranjan; Priyadarshini, Smita; Pati, Abhishek Ranjan; Bhuyan, Sanat Kumar; Panigrahi, Rajat G

2014-10-01

Children may be born with birth defects, the most common being oro-facial clefts and fissural cysts. A well circumscribed pedunculated soft tissue growth that occurs congenitally is known as congenital epulis of the newborn or 'Neuman's Tumour' as described in the literature. It is a rare lesion and the diagnosis has to be confirmed histologically. We present a rare case of a 7-year-old child with a congenital growth in the pre-maxillary region of the anterior hard palate clinically diagnosed as congenital epulis however, histologically confirmed as a mucous retention cyst. An elaborate clinical differential diagnosis is discussed. The anterior hard palate is devoid of salivary glands and the presence of a mucous retention cyst in the area is suggestive of ectopic salivary gland tissue and in a child manifesting at birth is probably the first case to be reported in the English literature.

Congenital nephrotic syndrome. Gallium-67 imaging

International Nuclear Information System (INIS)

Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

1988-01-01

Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

Pediatric congenital vertebral artery arteriovenous malformation

International Nuclear Information System (INIS)

Shownkeen, Harish; Chenelle, Andrew G.; Origitano, Thomas C.; Bova, Davide

2003-01-01

Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. (orig.)

A case report of congenital coronary artery fistula to the left ventricle

International Nuclear Information System (INIS)

Lee, Byung Hee; Yu, Shi Joon; Moon, Eon Soo; Kim, Sam Hyun; Choi, Young Hi

1987-01-01

Congenital coronary artery fistula is a rare malformation with an incidence of 0.4% of congenital heart disease. Among the various subtypes, fistula to the left ventricle is extremely rare with 6 reported cases till 1983. We present a case of coronary artery fistula between the right coronary artery and the left ventricle. The dilated right coronary artery formed a mass like bulging the right lower heart border in the plain chest PA, we think this is first case with a coronary artery fistula to the left ventricle, reported in Korea

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Science.gov (United States)

Kammoun, Molka; Brady, Paul; De Catte, Luc; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris Robert

2018-03-01

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, the patient presented congenital diaphragmatic hernia. NHS gene expression in murine fetal diaphragm was demonstrated, suggesting a possible involvement of NHS in diaphragm development. Congenital diaphragmatic hernia could result from NHS loss of function in pleuroperitoneal fold or in somites-derived muscle progenitor cells leading to an impairment of their cells migration.

Genetics of congenital hypogonadotropic hypogonadism in Denmark

DEFF Research Database (Denmark)

Tommiska, Johanna; Känsäkoski, Johanna; Christiansen, Peter

2014-01-01

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete/absent puberty caused by deficiency or defective action of gonadotropin-releasing hormone (GnRH). The phenotypic features of patients with CHH vary from genital hypoplasia and absent puberty to reversal...

Congenital Absence of Left Circumflex Artery Detected by Computed Tomography Coronary Angiography: A Case Report

Directory of Open Access Journals (Sweden)

Keerati Hongsakul

2012-01-01

Full Text Available The congenital absence of the left circumflex artery (LCx is a very rare congenital anomaly of coronary arteries, but it is benign. Currently, the best modality for the diagnosis of coronary anomalies is computed tomography coronary angiography (CTCA. We report a case of congenitally absent LCx with an atypical chest pain.

Congenital Absence of the Internal Carotid Artery

International Nuclear Information System (INIS)

Florio, Francesco; Balzano, Silverio; Nardella, Michele; Strizzi, Vincenzo; Cammisa, Mario; Bozzini, Vincenzo; Catapano, Giuseppe; D'Angelo, Vincenzo

1999-01-01

We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography

Congenital bronchobiliary fistula: MRI appearance

International Nuclear Information System (INIS)

Hourigan, Jon S.; Carr, Michael G.; Burton, Edward M.; Ledbetter, Joel C.

2004-01-01

Congenital bronchobiliary fistula (CBBF) is a rare anomaly. Twenty-three cases have been reported since the anomaly was first described in 1952. Most of these cases were diagnosed by bronchoscopy, cholangiography, or hepatobiliary nuclear imaging. Our case of a newborn with bilious emesis with CBBF was depicted by T1-weighted gradient-echo MRI sequences. (orig.)

Congenital eversion of upper eyelids: Case report and management

Directory of Open Access Journals (Sweden)

Maheshwari Rajat

2006-01-01

Full Text Available Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down′s syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of congenital bilateral severe upper eyelid eversion in a normal infant, born by vaginal delivery. The case was conservatively managed by lubricants, antibiotics and eyelid patching.

Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot – A rare Packaging disorder

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Mukesh Tiwari

2013-04-01

Full Text Available ntroduction: Reduced intrauterine space gives rise to ‘packaging disorder’ which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK, bilateral congenital hip dislocation (CDH and congenital talipes equino varus (CTEVdeformities. Case Report: A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Conclusion: Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good. Keywords: Congenital genu recurvatum, Develpmental dysplasia hip, CTEV, Clubfoot, serial manipulation, packaging disorders

Nance–Horan Syndrome: A Rare Case Report

OpenAIRE

Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

2017-01-01

Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, mi...

Angle closure glaucoma in congenital ectropion uvea

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Grace M. Wang

2018-06-01

Full Text Available Purpose: Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Observations: Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months and required additional surgery (cycloablation or trabeculectomy. Conclusions and importance: Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control. Keywords: Congenital ectropion uvea, Juvenile glaucoma, Angle-closure glaucoma, Glaucoma drainage device

Congenital rickets presenting as refractory respiratory distress at birth.

Science.gov (United States)

Tiwari, Soumya; Kumar, Rajesh; Singla, Shilpy; Dudeja, Ajay; Nangia, Sushma; Saili, Arvind

2014-08-01

Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.

Denonvilliers' advancement flap in congenital alar rim defects correction

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Novaković Marijan

2009-01-01

Full Text Available Background. Alar rim defects are mostly acquired, resulting from burns, traumas or tumor excision. Sometimes they can accompany craniofacial clefts. However, isolated congenital alar defects are extremely rare. Case report. We presented two cases of congenital isolated alar cleft. The defect was closed by the use of an advancement flap, the technique described by Denonvilliers. We achieved both symmetry and appropriate thickness of the nostrils. Skin color and texture of the alar rim were excellent, with scars not excessively visible. Conclusion. Denonvilliers' z-plasty technique by using advancement flap provides both functionally and aesthetically satisfying outcome in patients with congenital alar rim defects.

[Congenital intestinal lymphangiectasia].

Science.gov (United States)

Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

2011-03-01

Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

Macrodystrophia Lipomatosa: A rare presentation | Kachewar ...

African Journals Online (AJOL)

Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in ...

Rare craniofacial clefts in Ibadan | Iyun | Nigerian Journal of Plastic ...

African Journals Online (AJOL)

Introduction: Congenital craniofacial clefts are anatomical distortions of the face and cranium with deficiencies of excess of tissue in a linear pattern. The exact incidence of craniofacial clefts is unknown because cases are rare and series tend to be small. The aim of this study is to document our experience with congenital ...

e-ENERCA: telemedicine platform for rare anaemias

OpenAIRE

Béatrice Gulbis; María del Mar Mañú Pereira; Emilio J. Armaza Armaza; Pilar Nicolás; for the ENERCA working group

2014-01-01

The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org). This is a cornerstone in the field of rare anaemias, in which national expertise is usually scarce and a significant number of patients remain undiagnosed. Experts in rare diseases are specially needed of shared knowledge platforms offering the possibility of a faster and more accurate diagnosis and the availability of a better pa...

Congenital varicella-zoster virus infection. A rare case of severe brain and ocular malformations without limb or cutaneous involvement in a newborn after maternal subclinical infection

International Nuclear Information System (INIS)

Al-Katawee, Yousef A.; Al-Hasoun, Yousef A.; Taha, Mohamed N.; Al-Moslem, Khaled

2005-01-01

Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic malformation of the left eye, and absence of the right eye globe. Radiological work up revealed severe brain and eye malformations, serological studies of both mother and baby were positive for VZV. The baby underwent palliative surgery to the eyes, upon discharge, a plan of multidisciplinary team was made for follow up including neurologist, ophthalmologist, pediatrician and social worker. Congenital VZV infection can be severe enough to cause catastrophic fetal anomalies and damage to the vital organs as many of those infants die in infancy. (author)

Straight line closure of congenital macrostomia

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Schwarz Richard

2004-01-01

Full Text Available The results of patients operated on by Nepal Cleft Lip and Palate Association (NECLAPA surgeons for congenital macrostomia were prospectively studied between January 2000 and December 2002. There were four males and three females with a median age of 10 years. Three had an associated branchial arch syndrome. In all patients an overlapping repair of orbicularis oris was done. Six patients had a straight line closure with excellent cosmetic results and one a Z-plasty with a more obvious scar. All had a normal appearing commissure. Overlapping orbicularis repair with straight line skin closure for this rare congenital anomaly is recommended.

Congenital osteofibrous dysplasia associated with pseudoarthrosis of the tibia and fibula

International Nuclear Information System (INIS)

Teo, Harvey E.L.; Peh, Wilfred C.G.; Akhilesh, M.; Tan, S.B.; Ishida, T.

2007-01-01

The association between congenital pseudoarthrosis and osteofibrous dysplasia of the tibia and fibula is a rare entity that has been recently recognized. We report a male newborn who was found to have swelling and deformity of the left lower leg. Radiographs and magnetic resonance imaging showed an extensive destructive lesion of the tibial shaft, with dysplastic congenital pseudoarthrosis of the lower fibula. Histopathologial examination confirmed the diagnosis of congenital pseudoarthrosis of the tibia and fibula with underlying osteofibrous dysplasia involving both bones. Immunohistochemical stains showed cytokeratin positivity. (orig.)

[An uncommon cause of hypocalcemic convulsion: congenital rickets. Case report].

Science.gov (United States)

Karabel, Duran; Karabel, Musemma; Yilmaz, Ayse Esra; Tas, Tugba; Karayel, Metin

2012-12-01

Vitamin D deficiency and rickets are major health problems in developing countries. Congenital rickets is a rare form of rickets. Maternal vitamin D deficiency is the most important risk factor for vitamin D deficiency and rickets in newborns and early infancy. In this report, we presented a two-month old infant with seizures while hospitalized for pulmonary infection. Finally, congenital rickets due to maternal vitamin D deficiency was diagnosed.

Laboratory diagnosis of the rare anaemias: external quality assessment benefits patient care

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Barbara De La Salle

2013-03-01

Full Text Available Since its introduction in the 1960s, external quality assessment has developed to become an essential component of the quality management system of the diagnostic laboratory. External quality assessment provides a long term, retrospective view of laboratory performance, demonstrating the competence of the laboratory to others. The ENERCA project (the European Network for Rare and Congenital Anaemias has established a list of core laboratory tests that are used in the diagnosis of rare and congenital anaemias, which has been used as the basis for questionnaires to laboratories, to establish the use and quality assurance of diagnostic testing in the congenital and rare anaemias, and to European EQA providers for services in this key area. In general, the provision of EQA for rare and congenital anaemias is widely variable with little provision for the very rare disorders. For the more common congenital anaemias, such as the haemoglobinopathies and thalassaemias, provision is better but there is variation in aspects of the scheme design, especially the frequency of distribution. Where laboratories did not take part in EQA for individual tests, or there was no EQA available, a desire to participate was expressed in 66% (102/154 of cases. The provision of external quality assessment (EQA services for rare disorders is a challenge. For many of these conditions, the number of patients in any one member state is very small with only a few laboratories providing diagnostic testing. In these cases, the development of pan-European or cross-border EQA may be the only means by which standardisation of methods and results can be achieved. An EQA survey of 243 laboratories for performance in Hb A2 quantification showed encouraging results in that there was a clear differentiation in the results from a beta Thalassaemia carrier and an individual with no evidence of Thalassaemia; however, a bias was observed between different methods of measurement.

Angle closure glaucoma in congenital ectropion uvea.

Science.gov (United States)

Wang, Grace M; Thuente, Daniel; Bohnsack, Brenda L

2018-06-01

Congenital ectropion uvea is a rare anomaly, which is associated with open, but dysplastic iridocorneal angles that cause childhood glaucoma. Herein, we present 3 cases of angle-closure glaucoma in children with congenital ectropion uvea. Three children were initially diagnosed with unilateral glaucoma secondary to congenital ectropion uvea at 7, 8 and 13 years of age. The three cases showed 360° of ectropion uvea and iris stromal atrophy in the affected eye. In one case, we have photographic documentation of progression to complete angle closure, which necessitated placement of a glaucoma drainage device 3 years after combined trabeculotomy and trabeculectomy. The 2 other cases, which presented as complete angle closure, also underwent glaucoma drainage device implantation. All three cases had early glaucoma drainage device encapsulation (within 4 months) and required additional surgery (cycloablation or trabeculectomy). Congenital ectropion uvea can be associated with angle-closure glaucoma, and placement of glaucoma drainage devices in all 3 of our cases showed early failure due to plate encapsulation. Glaucoma in congenital ectropion uvea requires attention to angle configuration and often requires multiple surgeries to obtain intraocular pressure control.

A fatal case of complicated congenital peritoneopericardial diaphragmatic hernia in a Holstein calf

OpenAIRE

Hicks, Keltie A.; Britton, Ann P.

2013-01-01

Congenital peritoneopericardial diaphragmatic hernia is a rare condition most commonly reported in cats and dogs. A 6-week-old Holstein heifer calf with a congenital peritoneopericardial diaphragmatic hernia complicated by a perforated abomasal ulcer is described. The clinical signs and pathological findings are compared with those reported in other species.

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

International Nuclear Information System (INIS)

Aqrabawi, H.E.; Shabatat, M.; Abbadi, B.M.

2015-01-01

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

Congenital Chylothorax in a Newborn with Down Syndrome

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Nazan Neslihan Doğan

2017-03-01

Full Text Available In the neonatal period, the most common cause of pleural effusion is idiopathic congenital chylothorax. Congenital chylothorax is rarely associated with chromosomal abnormalities, such as Down, Turner and Noonan syndromes. The diagnosis can be made after analysis of the pleural fluid drained by thoracentesis or chest tube placement. During the neonatal period, chylothorax treatment is composed of conservative and surgical therapies. Nowadays, for cases among which conservative therapies fail, treatment with octreotide has been reported to be beneficial with promising results. In this report, a case of congenital chylothorax, in a newborn with Down syndrome, treated by octreotide after failure of chest tube drainage and medical treatment (total parenteral nutrition and medium chain fatty acid formula is presented.

Congenital Infantile Fibrosarcoma Causing Intestinal Perforation in a Newborn

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Margarita Kaiser

2017-01-01

Full Text Available Congenital infantile fibrosarcoma (CIF is a rare malignant mesenchymal tumor and only 14 cases have been reported with gastrointestinal manifestation. We report about a female newborn delivered per emergency cesarean section at 34 weeks of gestation. Postnatally, she rapidly developed an acute abdomen and sonographic evidence of intestinal perforation requiring laparotomy on the first day of life. A perforated 2 × 3 cm sized spherical tumorous structure of the jejunum was identified. Due to unknown histopathology at this point and unclear resectional margins, she received a temporary ileostomy, which was closed two months later. Histopathology revealed a congenital intestinal fibrosarcoma without the characteristic ETV6-NTRK3 fusion transcript. In conclusion, this rare tumor must be considered as differential diagnosis of intestinal perforations in newborns.

A fatal case of complicated congenital peritoneopericardial diaphragmatic hernia in a Holstein calf

Science.gov (United States)

Hicks, Keltie A.; Britton, Ann P.

2013-01-01

Congenital peritoneopericardial diaphragmatic hernia is a rare condition most commonly reported in cats and dogs. A 6-week-old Holstein heifer calf with a congenital peritoneopericardial diaphragmatic hernia complicated by a perforated abomasal ulcer is described. The clinical signs and pathological findings are compared with those reported in other species. PMID:24155464

Congenital Uterovaginal Prolapse Present at Birth

African Journals Online (AJOL)

of the buttocks down to the legs with crepe bandage for 72 h. Key words: Breech, congenital, Nigeria, prolapse, spina bifida, utero- ... pressure during breech delivery stretches the pelvic floor muscle and the ligaments thus increasing the risk of ... and mucosal ulceration sets in. In conclusion, UVP presenting at birth is a rare ...

Inhibitor development after liver transplantation in congenital factor VII deficiency.

Science.gov (United States)

See, W-S Q; Chang, K-O; Cheuk, D K-L; Leung, Y-Y R; Chan, G C-F; Chan, S-C; Ha, S-Y

2016-09-01

Congenital factor VII (FVII) deficiency is the commonest type of the rare bleeding disorders. Very few cases of congenital FVII deficiency developed inhibitor and liver transplant is considered as definitive treatment. In the literature, twelve patients with congenital FVII deficiency developed inhibitors. Two had spontaneous resolution of inhibitors and one did not respond to high dose recombinant factor VIIa (rFVIIa) and died. Regarding liver transplant in congenital FVII patients, seven patients underwent liver transplant with good prognosis. We report a 5-year-old girl with confirmed severe congenital FVII deficiency since neonatal period. She suffered from recurrent intracranial bleeding despite rFVIIa replacement. After auxiliary liver transplant at the age of 4, she continued to show persistent deranged clotting profile and was found to have inhibitor towards FVII. Interestingly, she was still responsive to rFVIIa replacement. © 2016 John Wiley & Sons Ltd.

Neonatal gastrointestinal involvement and congenital cytomegalovirus

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Alessandro Porta

2016-11-01

Full Text Available Cytomegalovirus (CMV is the most common cause of congenital viral infection, affecting 0.2 to 2.3% of all live births in developed countries. Very low birth weight and extremely low birth weight newborns are at higher risk of symptomatic CMV infection, most commonly secondary and acquired through breast milk. Gastrointestinal involvement is rare in acquired CMV infections, but it could be an important manifestation of postnatal infection in preterm infants admitted to neonatal intensive care units. Early onset of CMV gastrointestinal signs/symptoms is very rare. In a review of the literature it is described in 5 newborns in the first 24 hours of life, and 6 considering the onset in the first week of life. This review describes also a case report of congenital CMV in an immunocompetent newborn with onset of gastrointestinal signs immediately after birth: a possible association between viral infection and enteric manifestations was considered in the differential diagnosis. A review of the literature of the different case reports found has done, with description and comparison of the different patients and clinical presentations.

Congenital intestinal lymphangiectasia

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Popović Dušan Đ.

2011-01-01

Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

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Shivanand C Bubanale

2018-01-01

Full Text Available Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze. The anterior chamber, iris, lens and fundus appeared normal. Congenital lamellar ichthyosis was suspected because of scaling and excessive dryness of the entire body. The occurrence of a spontaneous subconjunctival abscess is not known in lamellar ichthyosis. We thus report the management of a rare case of unilateral upper eyelid ectropion, subconjunctival abscess with orbital cellulitis in congenital lamellar ichthyosis.

Cyanotic Congenital Heart Defects – literature review

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Vlad Drăgoi

2017-11-01

Full Text Available Congenital heart defects are one of the most interesting and important chapters regarding abnormal fetal growth pathology. The objective of this article is to present a literature review for the main cyanotic congenital heart defects. The ones presented in the article are: tetralogy of Fallot, transposition of the great vessels, double outlet right ventricle, truncus arteriosus, total anomalous pulmonary venous circulation and additional information regarding very rare malformations such as pentalogy of Cantrell and Uhl anomaly. An early and precise identification of congenital heart defects is an important step in an accurate follow-up of a potential problematic pregnancy. Knowing the sonographic aspect, associated pathology and the current available treatment procedures are vital for the fetal outcome and for the physician to adapt the right management in every situation that might appear during the pregnancy and in the neonatal period.

Cardiofaciocutaneous syndrome: A rare entity

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S Pavithra

2012-01-01

Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

Congenital yellow nail syndrome: a case report and its relationship to nonimmune fetal hydrops.

Science.gov (United States)

Nanda, Arti; Al-Essa, Fahad H; El-Shafei, Wael M; Alsaleh, Qasem A

2010-01-01

Yellow nail syndrome (YNS) is an uncommon disorder characterized by a triad of nail dystrophy, lymphedema, and pleural effusion. It is rare in children and congenital occurrence of YNS has been very rarely described. We report a 2-year-old Arab boy having congenital yellow nail syndrome with mild facial dysmorphism and bilateral conjunctival pigmentation born to consanguineous parents. One of his older siblings had died of nonimmune fetal hydrops (NIFH). The case supports the genetic basis of yellow nail syndrome with a possible relationship to nonimmune fetal hydrops. © 2010 Wiley Periodicals, Inc.

Congenital Midureteric Stricture

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Singh Shalinder

2001-01-01

Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

Congenital heart defects in Williams syndrome.

Science.gov (United States)

Yuan, Shi-Min

2017-01-01

Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

Science.gov (United States)

Mohamed, Sarar; Osman, Abdaldafae; Al Jurayyan, Nasir A; Al Nemri, Abdulrahman; Salih, Mustafa A M

2014-03-28

Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare. Here, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.

Science.gov (United States)

Melzer, Jonathan M; Eliason, Michael; Conley, George S

2016-04-01

Waardenburg syndrome is a known autosomal dominant cause of congenital hearing loss. It is characterized by a distinctive phenotypic appearance and often involves sensorineural hearing loss. Temporal bone abnormalities and inner ear dysmorphisms have been described in association with the disease. However, middle ear abnormalities as causes of conductive hearing loss are not typically seen in Waardenburg syndrome. We discuss a case of an 8-year-old female who meets diagnostic criteria for Waardenburg syndrome type 3 and who presented with a bilateral conductive hearing loss associated with congenital stapes fixation. We discuss management strategy in this previously unreported phenotype. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

[Tracheobronchial and pulmonary parenchymatous congenital abnormalities requiring surgical treatment in adults].

Science.gov (United States)

Mordant, P; De Dominicis, F; Berna, P; Riquet, M

2012-04-01

Most tracheobronchial and parenchymatous congenital abnormalities of the respiratory system are diagnosed in early life. However, some lesions may be initially silent and diagnosed only in adulthood. These cases included congenital abnormalies of the tracheobronchial tract (tracheal and/or bronchial stenosis, bronchogenic cysts, bronchial atresia, oesotracheal fistula, oesobronchial fistula, and tracheal diverticulum), and lung parenchyma itself (pulmonary sequestration, congenital cystic adenomatoïd malformation, lobar emphysema, lobar or lung hypoplasia). To avoid dreadful complications, these rare cases deserve surgical management, and must be known by chest physicians and surgeons. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

[Neumann's tumor or congenital epulis of the newborn].

Science.gov (United States)

Cantaloube, D; Rives, J M; Larroque, G; Charrier, J L; Seurat, P

1988-01-01

Congenital epulis is a rare benign gingival tumor affecting mainly female neonates. Histology shows characteristic granular cells. Although diagnosis and therapy fail to raise particular problems, this is not the case for histopathogenesis of lesion. Two cases observed recently in West Africa are reported.

Congenital Palatal Fistula Associated with Submucous Cleft Palate

Science.gov (United States)

Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang

2016-01-01

Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and management. Methods: Two cases of children with congenital palatal fistulae and a submucous cleft palate are presented who were treated in different settings by different surgeons. Cases are discussed along with a thorough review of the available literature. Results: Patient 1 presented at 4 years of age with “a hole in the palate” since birth and abnormal speech. His palatal fistula and submucous cleft were repaired with a modified von Langenbeck technique in Ethiopia. At a 2-year follow-up, the palate remained closed, but hypernasal speech persisted. Patient 2 was a 1-year-old presenting with failure to thrive and nasal regurgitation, who underwent a Furlow palatoplasty in the United States with good immediate results. She was unfortunately lost to follow-up. Conclusions: A congenital fenestration of the palate is rare. Reports reveal suboptimal speech at follow-up, despite various types of repair, especially when combined with a submucous cleft. Available literature suggests that repair should not focus on fistula closure only but instead on providing adequate palate length to provide good velopharyngeal function, as in any cleft palate repair. PMID:27014542

Genetics Home Reference: congenital bile acid synthesis defect type 1

Science.gov (United States)

... result in softening and weakening of the bones ( rickets ) in some individuals. If left untreated, congenital bile ... Encyclopedia: Cholestasis Health Topic: Liver Diseases Health Topic: Rickets Genetic and Rare Diseases Information Center (1 link) ...

Congenital Ewing's Sarcoma in a neonate in Uyo - a case report ...

African Journals Online (AJOL)

Congenital Ewing's sarcoma is a very rare occurrence indeed with only one case involving the humerus and none involving the ulna that has been noted in the literature to our knowledge. It is one of those tumours that not only do they rarely occur in the neonatal period, but is also very uncommon in black people.

Congenital Complete Tracheal Ring in a Neonate: A Case Report

Directory of Open Access Journals (Sweden)

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.

Antenatal diagnosis of the congenital craniopharyngioma

International Nuclear Information System (INIS)

Jurkiewicz, E.; Bekiesinska-Figatowska, M.; Duczkowski, M.; Grajkowska, W.; Roszkowski, M.; Czech-Kowalska, J.; Dobrzanska, A.

2010-01-01

Background: Craniopharyngioma is a rare fetal and neonatal tumor. Case Report: We report a case of a congenital craniopharyngioma diagnosed by prenatal magnetic resonance. This diagnosis was confirmed by postnatal MR imaging, neurosurgical treatment and histopathological examination. Conclusions: Outcome of neonatal craniopharyngioma is very poor, even if radical surgery is performed. The main problems are pituitary insufficiency, diabetes insipidus, and visual disturbance. (authors)

Congenital upper eyelids ectropion in Down’s syndrome

Directory of Open Access Journals (Sweden)

Corredor-Osorio, Rafael

2017-02-01

Full Text Available Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down’s syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down’s syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment.

Bilateral congenital absence of the long head of the biceps tendon

Energy Technology Data Exchange (ETDEWEB)

Koplas, Monica C. [Cleveland Clinic, Imaging Institute/HB6, Cleveland, OH (United States); Winalski, Carl S. [Cleveland Clinic, Imaging Institute/A21, Cleveland, OH (United States); Ulmer, William H. [Orthopedic and Spine Specialists, York, PA (United States); Recht, Michael [NYU Langone Medical Center, Department of Radiology, New York, NY (United States)

2009-07-15

Absence of the long head of the biceps tendon is a rare anomaly particularly when it occurs bilaterally. We present the magnetic resonance and arthroscopy findings in a patient with bilateral congenital absence of the long head of the biceps who presented with bilateral shoulder pain. Identification of a shallow or absent intertubercular groove may aid in differentiating congenital absence of the long head of the biceps from a traumatic tendon rupture. (orig.)

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

Science.gov (United States)

Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

2016-01-01

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

Congenital hypertrophy of multiple intrinsic muscles of the foot.

Science.gov (United States)

Shiraishi, Tomohiro; Park, Susam; Niu, Atushi; Hasegawa, Hiromi

2014-12-01

Congenital hypertrophy of a single intrinsic muscle of the foot is rare, and as far as we know, only six cases have been reported. We describe a case of congenital anomaly that showed hypertrophy of multiple intrinsic muscles of the foot; the affected muscles were all the intrinsic muscles of the foot except the extensor digitorum brevis or extensor hallucis. Other tissues such as adipose tissue, nervous tissue, or osseous tissue showed no abnormalities. To reduce the volume of the foot we removed parts of the enlarged muscles.

Congenital Midline Tongue Base Mass in An Infant: Lingual Hamartoma

OpenAIRE

Fadzilah, Noraziana; Azman, Mawaddah; See, Goh Bee

2016-01-01

Lingual hamartoma is a rare finding of congenital midline posterior tongue mass. The lesion may be seen as a single anomaly or maybe associated with syndrome especially the Oral Facial Digital Syndrome (OFDS). Here, we report an otherwise normal and healthy two-month-old boy with a congenital midline base of tongue mass presented with snoring and episodic vomiting since the age of 1 month. Tumour excision from the area of foramen of caecum recovered a pinkish pedunculated tumour. Histopatholo...

Ankyloglossia with cleft lip: A rare case report

Science.gov (United States)

Jangid, Kritika; Alexander, Aurelian Jovita; Jayakumar, Nadathur Doraiswamy; Varghese, Sheeja; Ramani, Pratibha

2015-01-01

Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development. PMID:26941523

Ankyloglossia with cleft lip: A rare case report

Directory of Open Access Journals (Sweden)

Kritika Jangid

2015-01-01

Full Text Available Ankyloglossia or tongue-tie is a congenital anomaly affecting the tongue, which is characterized by thick, short lingual frenulum. This condition causes many difficulties such as limited tongue protrusion, breastfeeding difficulties, speech impairment and lack of self-confidence. It is very rarely associated with any other congenital craniofacial disorders such as cleft lip, X-linked cleft palate, Van der Woude syndrome, Smith-Lemli-Opitz syndrome, Orofacial digital syndrome, Beckwith Weidman syndrome or Simpson-Golabi-Behmel syndrome. This article presents a rare case of ankyloglossia associated with cleft lip treated with diode laser in a 12-year-old Indian boy who had undergone surgical correction of associated cleft lip soon after birth. Correction of ankyloglossia at a young age would lead to enhanced phonetics, improved oral hygiene, and overall personality development.

Late presentation of congenital dislocation of the knee: a case report.

Science.gov (United States)

Sudesh, Pebam; Singh, Daljit; Goni, Vijay; Rangdal, Sushil; Chaudhary, Susheel

2013-12-01

Congenital dislocation of the knee is a rare disorder. Late presentation of congenital dislocation of the knee at an older age is a therapeutic challenge. A 12-year-old girl presented to us with congenital dislocation of the knee and with complaints of limp, short limb, and pain on weight bearing. Two-stage surgery was performed with quadricepsplasty followed by gradual distraction in the first stage and repeat quadricepsplasty, anterior capsular release, and open reduction in the second stage. The result was fair to good with a stable and painless knee on walking. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Multiple congenital PSS in a dog: case report and literature review.

Science.gov (United States)

Leeman, Jessica J; Kim, Stanley E; Reese, David J; Risselada, Marije; Ellison, Gary W

2013-01-01

A 4 yr old spayed female mixed-breed dog presented with a 2 yr history of recurring increases in liver enzymes. Two congenital portosystemic shunts (PSSs) were identified using computed tomography (CT) angiography, which included a portoazygous and portorenal extrahepatic shunt. Double right renal veins were also identified. The shunts were successfully identified and attenuated with cellophane banding. Multiple congenital PSS is a rare phenomenon, but should be considered during exploratory laparotomy for PSS and in dogs with poor response to surgical attenuation of a single PSS. CT proved to be a crucial part of accurate diagnosis and surgical planning for this dog with multiple congenital PSS.

Genetic studies in congenital anterior midline cervical cleft

DEFF Research Database (Denmark)

Jakobsen, L P; Pfeiffer, P; Andersen, M

2012-01-01

Congenital anterior midline cervical cleft (CAMCC) is a rare anomaly, with less than 100 cases reported. The cause of CAMCC is unknown, but genetic factors must be considered as part of the etiology. Three cases of CAMCC are presented. This is the first genetic study of isolated CAMCC. Conventional...

Multiple caeco-appendiceal fistulas and diverticulosis: a newly defined congenital anomaly of the appendix-report of the first case.

Science.gov (United States)

Yucel, Ahmet Fikret; Pergel, Ahmet; Kocakusak, Ahmet; Aydin, Ibrahim; Bagci, Pelin; Sahin, Dursun Ali

2011-11-01

Congenital anomalies of the appendix are extremely rare. They are usually found incidentally during operations other than appendectomies. Congenital appendix diverticula are even less frequent. Congenital caeco-appendiceal fistulae have not been reported until today. Herein, we present real diverticula of the appendix with multiple caeco-appendiceal fistulae which, to our knowledge, is the first in the literature.

Berardinelli-Seip congenital lipodystrophy in two siblings

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T Rao

2014-01-01

Full Text Available Berardinelli-Seip congenital lipodystrophy (BSCL is a very rare autosomal recessive disorder characterized by various dermatological and systemic manifestations such as lipoatrophy, hypertriglyceridemia, hepatomegaly, acanthosis nigricans, and acromegaloid features. BSCL type 2 is more common and severe, with onset in the neonatal period or in early infancy. The locus for BSCL2 has been identified on chromosome 11q13. Early recognition and differentiation from other congenital generalized lipodystrophies help in the initiation of appropriate preventive and therapeutic measures such as lifestyle modification and pharmacotherapy that helps postpone the onset of metabolic syndrome. We report BSCL type 2 in two siblings with several cutaneous manifestations like acanthosis nigricans, hypertrichosis, prominent subcutaneous veins, and increased lanugo hair.

Congenital Becker's nevus with a familial association.

Science.gov (United States)

Book, S E; Glass, A T; Laude, T A

1997-01-01

Becker's nevus is a unilateral, hyperpigmented cutaneous hamartoma usually with hypertrichosis. It occurs predominantly in boys, becoming apparent during adolescence, although several cases of congenital Becker's nevus have been reported. Rarely it may be familial and as such is transmitted in an autosomal dominant pattern. We report a 16-month-old black boy with a hyperpigmented patch on his right shoulder and upper pectoral area that extended down his arm. The patient's father has a similar lesion with hair on his left shoulder which has been present since childhood. Histology of the child's lesion was consistent with Becker's nevus. We believe this to be the first reported case of a congenital Becker's nevus with a familial association.

Giant unusual shaped chronic subdural hematoma in a patient with untreated congenital hydrocephalus

OpenAIRE

Mishra, Arvind; Ojha, Bal. K.; Chandra, Anil; Srivastava, Chhitij; Singh, Sunil Kumar

2011-01-01

Subdural hematoma is a well known complication of ventriculoperitoneal shunt insertion for hydrocephalus and usually spreads out over the cerebral convexity, and appears as a crescent shaped lesion on imaging. Chronic subdural hematoma in a case of untreated compensated congenital hydrocephalus has not been reported in English literature. We report the rare case of an adult with congenital hydrocephalus with a huge unusual shaped hemispheric subdural hematoma.

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Science.gov (United States)

Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

2012-01-01

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n = 7) or very uncommon (n = 15, malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

Acquired ventricular septal defect: A rare sequel of blunt chest ...

African Journals Online (AJOL)

Ventricular septal defect (VSD) is the most common congenital cardiac lesion encountered worldwide. Only very rarely is it acquired, and causation through blunt injury in a child is extremely rare. A previously healthy 7‑year‑old boy suffered blunt chest trauma while at play. He presented 11 days later with features of acute ...

Klippel-feil syndrome with situs inversus. A rare association

International Nuclear Information System (INIS)

Jalil, J.; Shafique, M.; Dar, N.R.

2008-01-01

Klippel-Feil Syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae. The clinical triad consists of short neck, low posterior hairline and limited neck movement. Multiple congenital anomalies have been associated with this disease. This is a case of KFS in a young girl along with situs inversus, which is an extremely rare association. Various systemic associations occurring in this multi-system disorder are also discussed. (author)

Lung herniation into pericardial cavity: A case of partial congenital absence of right pericardium

Directory of Open Access Journals (Sweden)

Sadashiv B Tamagond

2012-01-01

Full Text Available Congenital absence of pericardium is rarely seen, often diagnosed intraoperatively during cardiac and thoracic surgeries. Left-sided pericardial defects are more common than right-sided ones. We present a case of an incidentally detected congenital absence of right pericardium with herniation of part of the right lung during ventricular septal defect closure surgery in a male child aged 4 years.

Large congenital cystic asdenomatous malformation of the lung in a newborn

Directory of Open Access Journals (Sweden)

İlyas Yolbaş

2013-12-01

Full Text Available Congenital cystic adenomatous malformation (CCAM oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatment

Congenital neutropenia: diagnosis, molecular bases and patient management

Directory of Open Access Journals (Sweden)

Chantelot Christine

2011-05-01

Full Text Available Abstract The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe ( When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia and congenital forms that may either be isolated or part of a complex genetic disease. Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant. About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency and glycogen storage disease type Ib (associated with a glycogen storage syndrome. So far, the molecular bases of 12 neutropenic disorders have been identified. Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF. G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

Ellis–Van Creveld syndrome in siblings: A rare case report

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Sabitha Gokulraj

2016-01-01

Full Text Available Ellis–Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis–Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis–Van Creveld syndrome in siblings.

Case series of eye disorders associated with congenital eye ...

African Journals Online (AJOL)

Background: Congenital diseases are sometimes incompatible with life. Others are, but sometimes at the cost of suffering for the child and family. These abnormalities often have a rich symptomatology and interest several specialties. Ocular signs rarely help in prenatal diagnosis. After birth, the ophthalmologist may ...

Uncovering the Rare Variants of DLC1 Isoform 1 and Their Functional Effects in a Chinese Sporadic Congenital Heart Disease Cohort

Science.gov (United States)

Wang, Zhen; Tan, Huilian; Kong, Xianghua; Shu, Yang; Zhang, Yuchao; Huang, Yun; Zhu, Yufei; Xu, Heng; Wang, Zhiqiang; Wang, Ping; Ning, Guang; Kong, Xiangyin; Hu, Guohong; Hu, Landian

2014-01-01

Congenital heart disease (CHD) is the most common birth defect affecting the structure and function of fetal hearts. Despite decades of extensive studies, the genetic mechanism of sporadic CHD remains obscure. Deleted in liver cancer 1 (DLC1) gene, encoding a GTPase-activating protein, is highly expressed in heart and essential for heart development according to the knowledge of Dlc1-deficient mice. To determine whether DLC1 is a susceptibility gene for sporadic CHD, we sequenced the coding region of DLC1 isoform 1 in 151 sporadic CHD patients and identified 13 non-synonymous rare variants (including 6 private variants) in the case cohort. Importantly, these rare variants (8/13) were enriched in the N-terminal region of the DLC1 isoform 1 protein. Seven of eight amino acids at the N-terminal variant positions were conserved among the primates. Among the 9 rare variants that were predicted as “damaging”, five were located at the N-terminal region. Ensuing in vitro functional assays showed that three private variants (Met360Lys, Glu418Lys and Asp554Val) impaired the ability of DLC1 to inhibit cell migration or altered the subcellular location of the protein compared to wild-type DLC1 isoform 1. These data suggest that DLC1 might act as a CHD-associated gene in addition to its role as a tumor suppressor in cancer. PMID:24587289

Nitric Oxide-Sensitive Pulmonary Hypertension in Congenital Rubella Syndrome

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Francesco Raimondi

2015-01-01

Full Text Available Persistent pulmonary hypertension is a very rare presentation of congenital virus infection. We discuss the case of complete congenital rubella syndrome presenting at echocardiography with pulmonary hypertension that worsened after ductus ligation. Cardiac catheterization showed a normal pulmonary valve and vascular tree but a PAP=40 mmHg. The infant promptly responded to inhaled nitric oxide while on mechanical ventilation and was later shifted to oral sildenafil. It is not clear whether our observation may be due to direct viral damage to the endothelium or to the rubella virus increasing the vascular tone via a metabolic derangement.

Congenital esophageal stenosis in 3 children: A case series

Directory of Open Access Journals (Sweden)

Mackenzie C. Lees

2017-08-01

Full Text Available Congenital esophageal stenosis (CES is rare condition found in 1 per 25,000 to 50,000 live births. It is characterized by intrinsic narrowing of the esophagus secondary to congenital malformation of the esophageal wall architecture. Diagnosis is often difficult to definitively establish as the symptoms are often initially attributed to esophageal strictures secondary to reflux, or occur within the context of a tracheo-esophageal fistula (TEF in the newborn. Endoscopic dilation and surgical repair are the mainstays of treatment. We report a series of three cases seen recently at our institution, the University of Alberta/Stollery Children's Hospital.

Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

Energy Technology Data Exchange (ETDEWEB)

Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden [Istanbul Faculty of Medicine, Department of Radiology, Istanbul (Turkey); Ozmen, Meral [Istanbul Faculty of Medicine, Department of Paediatric Neurology, Istanbul (Turkey)

2004-11-01

Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

International Nuclear Information System (INIS)

Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden; Ozmen, Meral

2004-01-01

Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

Congenital fibrosarcoma of the ileum: case report with molecular confirmation and literature review.

LENUS (Irish Health Repository)

Rizkalla, Hala

2012-02-01

Congenital fibrosarcoma is a rare, soft tissue malignancy of infancy, most commonly involving the distal extremities. We report a case of congenital fibrosarcoma of the ileum in a 5-day-old boy who presented with an acute abdomen due to ileal perforation. Partial ileal resection was carried out with successful anastomosis. Grossly, the resected small bowel showed focal luminal stenosis with a thickened, indurated wall. Histology showed a transmural primitive spindle cell proliferation with a morphology consistent with congenital fibrosarcoma. The associated hallmark chromosomal translocation t(12;15)(q13;q25) was demonstrated by reverse transcriptase polymerase chain reaction.

Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt.

Science.gov (United States)

Ali, Ahmed Ali Abdelrahim

2018-01-01

Median cleft deformities of the lower lip and mandible are very rare congenital anomalies. Our patient had median cleft of the lower lip, mandible, and the chin with tongue duplication, ankyloglossia, and cleft strap muscles with 2 neck contracture bands. This anomaly was associated with congenital heart disease transposition of great vessels, large ventricular septal defect, and severe pulmonary stenosis. Early repair was done at 6 months to improve feeding.

Congenital malformation of inner ear, single cavity

International Nuclear Information System (INIS)

Torres Pazmino, Julio Cesar; Marrugo Pardo, Gilberto Eduardo

2010-01-01

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

Nance-Horan Syndrome: A Rare Case Report.

Science.gov (United States)

Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

2017-01-01

Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

Nance–Horan syndrome: A rare case report

Directory of Open Access Journals (Sweden)

Shambhu Sharma

2017-01-01

Full Text Available Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

Nance–Horan Syndrome: A Rare Case Report

Science.gov (United States)

Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

2017-01-01

Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome. PMID:29042737

A Rare Case of Congenital Diabetes Insipidus

Directory of Open Access Journals (Sweden)

Tanvi eRege

2015-07-01

Full Text Available Congenital nephrogenic diabetes insipidus (NDI is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2 gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydipsia, dehydration, and hypernatremia. They are generally more severely in affected males but present variably in females due to skewed inactivation of the X chromosome. We describe a case of a 40 year old woman with a history of Type 2 diabetes mellitus, hyperlipidemia, and obesity who presents with debilitating polyuria since the age of five with no clear diagnosis. Interestingly, her son was subsequently diagnosed with NDI. Genetic testing revealed that she was heterozygous for the Val88Met mutation in the AVPR2 gene while her son was hemizygous for the same. The patient has since been successfully treated with diuretics and a low solute diet. We highlight that although X-linked NDI patients are mostly males, it should be considered in symptomatic females to prevent delays in the diagnosis. Conformational diseases such as NDI are presently the subject of research using pharmacological chaperones to restore proper receptor membrane localization and function.

A Rare Case of Congenital Diabetes Insipidus.

Science.gov (United States)

Rege, Tanvi; Polsani, Srujana; Jim, Belinda

2015-01-01

Congenital nephrogenic diabetes insipidus (NDI) is a conformation disease resulting from protein misfolding. Ninety percent of mutations result from the inactivating mutations of the arginine vasopressin receptor 2 (AVPR2) gene transmitted in an X-linked fashion, blocking the response to vasopressin, resulting in the inability to concentrate urine. Clinical features include polyuria, polydispsia, dehydration, and hypernatremia. They are generally more severely in affected males but present variably in females due to skewed inactivation of the X chromosome. We describe a case of a 40-year-old woman with a history of Type 2 diabetes mellitus, hyperlipidemia, and obesity, who presents with debilitating polyuria since the age of 5 with no clear diagnosis. Interestingly, her son was diagnosed with NDI. Genetic testing revealed that she was heterozygous for the Val88Met mutation in the AVPR2 gene while her son was hemizygous for the same. The patient has since been successfully treated with diuretics and a low solute diet. We highlight that although X-linked NDI patients are mostly males, it should be considered in symptomatic females to prevent delays in the diagnosis. Conformational diseases such as NDI are presently the subject of research using pharmacological chaperones to restore proper receptor membrane localization and function.

Living Donor Liver Transplantation for Unresectable Liver Adenomatosis Associated with Congenital Absence of Portal Vein: A Case Report and Literature Review

OpenAIRE

Brasoveanu, Vladislav; Ionescu, Mihnea Ioan; Grigorie, Razvan; Mihaila, Mariana; Bacalbasa, Nicolae; Dumitru, Radu; Herlea, Vlad; Iorgescu, Andreea; Tomescu, Dana; Popescu, Irinel

2015-01-01

Patient: Female, 21 Final Diagnosis: Unresectable liver adenomatosis associated with congenital absence of portal vein Symptoms: — Medication: — Clinical Procedure: Living donor liver transplantation Specialty: Transplantology Objective: Rare disease Background: Abernethy malformation (AM), or congenital absence of portal vein (CAPV), is a very rare disease which tends to be associated with the development of benign or malignant tumors, usually in children or young adults. Case Report: We rep...

Congenital candidiasis as a subject of research in medicine and human ecology.

Science.gov (United States)

Skoczylas, Michał M; Walat, Anna; Kordek, Agnieszka; Loniewska, Beata; Rudnicki, Jacek; Maleszka, Romuald; Torbé, Andrzej

2014-01-01

Congenital candidiasis is a severe complication of candidal vulvovaginitis. It occurs in two forms,congenital mucocutaneous candidiasis and congenital systemic candidiasis. Also newborns are in age group the most vulnerable to invasive candidiasis. Congenital candidiasis should be considered as an interdisciplinary problem including maternal and fetal condition (including antibiotic therapy during pregnancy), birth age and rare genetic predispositions as severe combined immunodeficiency or neutrophil-specific granule deficiency. Environmental factors are no less important to investigate in diagnosing, treatment and prevention. External factors (e.g., food) and microenvironment of human organism (microflora of the mouth, intestine and genitalia) are important for solving clinical problems connected to congenital candidiasis. Physician knowledge about microorganisms in a specific compartments of the microenvironment of human organism and in the course of defined disorders of homeostasis makes it easier to predict the course of the disease and allows the development of procedures that can be extremely helpful in individualized diagnostic and therapeutic process.

Modified transanal repair of congenital H-type rectovestibular fistula ...

African Journals Online (AJOL)

Congenital H-type rectovestibular fistulas are rare in the spectrum of anorectal malformations. Repair is associated with recurrence rates of up to 30%, using perineal repair, vestibuloanal pull-through or anterior anorectoplasty. The rarity of the malformation has limited experience with the surgical approach; hence, the rate ...

Prenatal intraventricular hemorrhage in a term infant with congenital ...

African Journals Online (AJOL)

Intraventricular hemorrhage (IVH) occurs rarely in term infant, since subependymal area is a transient structure in fetal life. IVH in term infant indicates generally that it happened prenatally. Congenital cytomegalovirus (CMV) infection is frequent, occurring in 1% of live births. It is a severe infection leading to developmental ...

Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy.

Science.gov (United States)

Aydin, Malik; Ganschow, Rainer; Jankofsky, Martin

2017-01-01

Aydin M, Ganschow R, Jankofsky M. Kocuria kristinae-caused sepsis in an infant with congenital tufting enteropathy. Turk J Pediatr 2017; 59: 93-96. Congenital tufting enteropathy (CTE) is characterized by the early-onset of chronic diarrhea and the inability to develop. It is a rare congenital disease with a low prevalence of 1:50,000 - 100,000 live births p.a. The histopathology is characterized by villous atrophy and the characteristic epithelial tufts. Recent identification of causative mutations in EpCAM has enhanced our understanding of this disease. Due to its severe clinical course, patients are dependent on parenteral nutrition to thrive successfully. Catheter-associated blood stream infections have become the primary problem for pediatric patients. Infections with Kocuria kristinae are rare. This report is about a 3-month-old girl with CTE suffering from a central venous catheter related mono-sepsis by K. kristinae. A sepsis therapy with meropenem and vancomycin improved her general state rapidly. Only few cases in the literature with CTE and K. kristinae are described. To the best of our knowledge, this is the first report presenting two coincidences in one case.

Hypogonadotropic hypogonadism in a female patient with congenital arhinia.

Science.gov (United States)

Hunter, Janel Darcy; Davis, Melissa Ann; Law, Jennifer Rachel

2017-01-01

The association of anosmia and congenital hypogonadotropic hypogonadism (CHH) is well described; however, congenital arhinia is a malformation associated with CHH that occurs much more rarely. There have been three reports of male patients with hypogonadism and congenital arhinia in the literature to date. We present the first case of arhinia associated with CHH in a female patient. A 14 years and 8 months female with congenital arhinia presented with delayed puberty. Physical examination and laboratory evaluation were consistent with hypogonadotropic hypogonadism. She had no other hormone deficiencies and brain magnetic resonance imaging demonstrated a normal pituitary gland. Abdominal ultrasound showed a prepubertal uterus and ovaries. She was subsequently started on sex steroid treatment to induce secondary sexual characteristics. This case demonstrates that abnormalities of nasal development may provide an early diagnostic clue to hypogonadotropic hypogonadism, particularly in female patients who would not manifest classic signs of CHH in infancy (micropenis and cryptorchidism). Early diagnosis of CHH and timely initiation of sex steroid therapy is important to prevent comorbidities related to pubertal delay.

Prenatal diagnosis of congenital paraesophageal hiatal hernia

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Min Jeng Cho

2018-05-01

Full Text Available Abstracts: Congenital paraesophageal hiatal hernia (CPEH is a rare condition. CPEH can cause important clinical problems such as gastric volvulus, hematemesis, vomiting, failure to thrive, and respiratory distress, it requires early diagnosis and prompt surgical treatment. In this paper, we describe a case of CPEH that was suspected in a prenatal ultrasound. Postnatal upper gastrointestinal contrast series confirmed a CPEH with intrathoracic gastric volvulus. An emergency operation was performed. The stomach was reduced, the hiatal defect was repaired by crural approximation, and a Nissen fundoplication was done. The prenatal diagnosis of CPEH is unusual, but prenatal detection is important because it allows planned neonatal surgery before the onset of complications and reduces long-term morbidity. Keywords: Congenital paraesophageal hiatal hernia, Antenatal diagnosis, Gastric volvulus

Congenital absence of the lumbar facet joint associated with bilateral spondylolysis of the fifth lumbar vertebra.

Science.gov (United States)

Wang, Zhuo; Sakakibara, Toshihiko; Kasai, Yuichi

2013-01-01

A 14-year-old boy presented with a rare case of congenital absence of lumbar facet joint manifesting as low back pain. Physical examination showed no neurological or hematologic abnormalities. Radiography revealed absence of a facet joint on the right side of L4-5. Computed tomography and three-dimensional computed tomography revealed absence of the facet joint on the right side of L4-5 and spondylolysis on both sides of L5. Pain subsided after conservative treatment. This is an extremely rare case of congenital absence of lumbar facet joint associated with bilateral spondylolysis.

Congenital scaphoid megalourethra associated with posterior urethral valve: A case report

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Apoorva Achyut Kulkarni

2018-01-01

Full Text Available Congenital scaphoid megalourethra is a very rare congenital anomaly of the anterior urethra in males. Here, a case of scaphoid megalourethra and posterior urethral valves is presented. A one and half year old male child came to us with complaints of ballooning at the tip of penis since birth. Micturating cystourethrogram showed a dilated glanular urethra. The patient underwent a Nesbitt’s longitudinal reduction urethroplasty with a single-staged, single layered repair. Post-operatively, the child passed a healthy stream of urine without straining

Gallbladder Volvulus: A rare cause of acute abdomen. A case report ...

African Journals Online (AJOL)

Gallbladder volvulus is a rare but serious event. Described for the first time by Wendal in 1898, the condition is the result of a congenital anomaly, in which the gallbladder is suspended by a mesentery which allows the rare possibility of its torsion which, when not handled urgently, results in gangrene and even peritonitis.

Small Bowel Obstruction due to Anomalous Congenital Bands in Children

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Basak Erginel

2016-01-01

Full Text Available Introduction. The aim of the study was to evaluate our children who are operated on for anomalous congenital band while increasing the awareness of this rare reason of intestinal obstruction in children which causes a diagnostic challenge. Patients and Methods. We retrospectively reviewed the records of fourteen children treated surgically for intestinal obstructions caused by anomalous congenital bands. Results. The bands were located between the following regions: the ascending colon and the mesentery of the terminal ileum in 4 patients, the jejunum and mesentery of the terminal ileum in 3 patients, the ileum and mesentery of the terminal ileum in 2 patients, the ligament of Treitz and mesentery of the jejunum in one patient, the ligament of Treitz and mesentery of the terminal ileum in one patient, duodenum and duodenum in one patient, the ileum and mesentery of the ileum in one patient, the jejunum and mesentery of the jejunum in one patient, and Meckel’s diverticulum and its ileal mesentery in one patient. Band excision was adequate in all of the patients except the two who received resection anastomosis for intestinal necrosis. Conclusion. Although congenital anomalous bands are rare, they should be considered in the differential diagnosis of patients with an intestinal obstruction.

Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

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Al Hadhoud F

2017-09-01

Full Text Available Fatemah Al Hadhoud,1 Abeer H Kamal,1 Abdulmohsen Al Anjari,1 Michael FE Diejomaoh1,2 1Department of Obstetrics and Gynecology, Maternity Hospital, 2Department of Obstetrics and Gynecology, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait Background: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. Case report: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes. She had a negative family history for diabetes mellitus, and her past surgical/medical/gynecological history was noncontributory. General physical examination revealed a healthy parturient with normal vital signs, clear lungs and normal heart sounds. Obstetric examination revealed a fundal height compatible with the gestational age; there was a single living fetus in breech presentation; she was not in labor. The mother was managed conservatively with antibiotics and dexamethasone injections. Labor ensued later, progressing rapidly to the second stage. Assisted breech delivery was performed, and a live baby, birth weight 1570 g and Apgar score 3/9, was delivered. The neonate had multiple congenital abnormalities, including fusion of both lower limbs, ambiguous genitalia, cloacal anomaly and tracheoesophageal fistula. The neonate was admitted to the neonatal intensive care unit, fully investigated, managed medically and surgically and eventually discharged home after a hospital stay of 123 days for further management. Conclusion: A case of peculiar fetal anomaly called sirenomelia, the first case in Kuwait, has been presented. Survival of such babies requires costly management with average results

Congenital Morgagni's hernia in infants and children: a national review

African Journals Online (AJOL)

Background: Congenital Morgagni's hernia (CMH) is rare and has unique features in terms of clinical presentation, high incidence of bilaterality, and associated anomalies. This is a review of all CMH cases reported from Saudi Arabia, highlighting clinical features, associated anomalies, aspects of diagnosis, and ...

Fibrotic entrapment of the small bowel in congenital intestinal lymphangiectasia

NARCIS (Netherlands)

Rust, C.; Pratschke, E.; Hartl, W.; Kessler, M.; Weibecke, B.; Sauerbruch, T.; Paumgartner, G.; Beuers, U.

1998-01-01

Congenital intestinal lymphangiectasia is a rare protein-losing enteropathy that is characterized by diarrhea and peripheral edema. This report presents a 37-yr-old woman who had suffered from recurrent diarrhea and peripheral edema since her early childhood and who was admitted for severe attacks

A Rare Seen Case Report: Sirenomelia

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Nilay Piskinpasa

2016-01-01

Full Text Available Sirenomelia is a rare congenital anomaly characterized by abnormal development of the caudal body structures.The disease can be diagnosed antenatally by the careful ultrasound examination. In this paper we aimed to discuss a case which had one lower extremity,spinal angulations and anhydramnios image detected by ultrasound examination.We diagnosed sirenomelia after termination.

Congenital lamellar ichthyosis, a case report.

OpenAIRE

Joaquín Saavedra D.; María José Sierralta S.; Cristian Saavedra D; Vanesa Rivera C; Francisco Cerda C.

2014-01-01

ABSTRACT INTRODUCTION: Lamellar Ichthyosis is a rare skin diseases belonging to the Group of the so-called genodermatoses. It is a form of congenital ichthyosis evident at birth. CASE REPORT: Male neonate, born at 36 weeks of gestation via cesarian section, appropriate for gestational age and Apgar Score 8. Nonconsanguineous parents. Affected brother with Ichthyosis lamellar. Is hospitalized in the Neonatal Intermediary Care Unit of the Hospital of San Fernando due to ...

Optical coherence tomography and fundus autofluorescence findings in presumed congenital simple retinal pigment epithelium hamartoma

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Baskaran, Prabu

2017-10-01

Full Text Available Aim: Presumed congenital simple retinal pigment epithelium hamartoma is a rare benign lesion of the macula that mimics congenital hypertrophy of the retinal pigment epithelium (RPE and combined hamartoma of the retina and the RPE; newer imaging modalities can help in diagnosis. We report three patients with presumed congenital simple RPE hamartoma, and describe the enhanced-depth imaging optical coherence tomography (EDI-OCT and fundus autofluorescence (FAF findings. Methods: Two patients were asymptomatic; one had an intraocular foreign body in addition to the hamartoma. All had a similar jet black, elevated lesion in the macula, sparing the fovea. EDI-OCT showed a characteristic hyperreflective layer with complete optical shadowing of the deeper layers; FAF showed pronounced hypoautofluorescence of the lesion. Conclusion: Multimodal imaging with FAF and EDI-OCT can help to differentiate simple RPE hamartoma from similar RPE lesions, and may serve as a useful adjunct to clinical diagnosis of this rare tumor. We present the second largest series of presumed congenital simple RPE hamartoma, and – to the best of our knowledge – the first report of FAF findings of this tumor.

Primary congenital abdominal aortic aneurysm: a case report with perinatal serial follow-up imaging

Energy Technology Data Exchange (ETDEWEB)

Kim, Jung Im; Lee, Whal; Chung, Jin Wook; Park, Jae Hyung [Seoul National University College of Medicine, Seoul National University Hospital, Department of Radiology, Seoul (Korea); Kim, Sang Joon [Seoul National University College of Medicine, Seoul National University Hospital, Department of Surgery, Seoul (Korea); Seo, Jeong-Wook [Seoul National University College of Medicine, Seoul National University Hospital, Department of Pathology, Seoul (Korea)

2008-11-15

Abdominal aortic aneurysms in neonates and infants are rare and are usually associated with infection, vasculitis, connective tissue disorder, or iatrogenic trauma such as umbilical catheterization. An idiopathic congenital abdominal aortic aneurysm is the least common category and there are few descriptions of the imaging features. We present the antenatal and postnatal imaging findings of an idiopathic congenital abdominal aortic aneurysm including the findings on US, MRI and CT. (orig.)

Congenital absence of the portal vein presenting as pulmonary hypertension

International Nuclear Information System (INIS)

Jun, Sur Young; Lee, Whal; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One; Yeon, Kyung Mo

2007-01-01

Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension

Congenital absence of the portal vein presenting as pulmonary hypertension

Energy Technology Data Exchange (ETDEWEB)

Jun, Sur Young; Lee, Whal; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One; Yeon, Kyung Mo [Seoul National University Hospital, Seoul (Korea, Republic of)

2007-11-15

Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension.

Congenital pulmonary arteriovenous malformation: a rare cause of ...

African Journals Online (AJOL)

Pulmonary arteriovenous malformation (PAVM) is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis. We present two patients with severe cyanosis and their work-up ...

The multiple brain abscesses associated with congenital pulmonary arteriovenous malformations: a case report.

OpenAIRE

Han, Seok; Lim, Dong-Jun; Chung, Yong-Gu; Cho, Tai-Hyoung; Lim, Seong-Jun; Kim, Woo-Jae; Park, Jung-Yul; Suh, Jung-Keun

2002-01-01

In this report, we describe a case of multiple brain abscesses associated with diffuse congenital pulmonary arteriovenous malformations (PAVM). Although the cases of brain abscesses associated with congenital PAVM are very rare, the brain abscess could be an initial clinical manifestation in asymptomatic PAVM as in the case presented in this report. PAVM may contribute to the development of a brain abscess by allowing easy bacterial access to systemic circulation through the right-to-left pul...

Isolated and syndromic forms of congenital anosmia

DEFF Research Database (Denmark)

Karstensen, H G; Tommerup, N

2012-01-01

. Despite a strong degree of heritability, no human disease-causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published......Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern...... families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal transduction pathway genes and animal models may shed light on potential candidate genes and pathways involved in ICA....

Tail-like Congenital Duplication of Lower Extremity (Extra Leg or ...

African Journals Online (AJOL)

2018-01-01

Jan 1, 2018 ... ABSTRACT. BACKGROUND: Congenital duplication of lower extremity, either complete or incomplete is extremely rare. Only 26 cases had been reported till 2010, of which only 5 cases had feature of complete duplication. Theories have been proposed that the cause of this abnormality includes maternal ...

Kidney transplantation in a patient with absent right common iliac artery and congenital renal abnormalities.

Science.gov (United States)

Tay, Clifton Ming; Siew, Edwin Poh Yiew; Ng, Tze-Kiat; Vathsala, Anantharanam; Tiong, Ho Yee

2015-01-01

Congenital atresia of the common and external iliac arteries is a rare vascular anomaly that may be associated with congenital renal or genitourinary malformations. In ESRD patients, its presence may pose potential problems during renal transplantation. We report a rare case of kidney transplantation in a patient with VACTERL syndrome who was found to have absent right common and external iliac arteries during pre-operative imaging. Vascular supply to the right lower limb is derived from an anomalous branch from the left internal iliac artery which takes on a convoluted course across the pelvis. Kidney transplantation was performed successfully with implantation performed on the left side. Isolated cases of congenital iliac artery atresia have been described in association with urological abnormalities but no clear association has yet been established. However, we feel that it may be useful to perform routine angiographic evaluation for ESRD patients with congenital genitourinary abnormalities being planned for kidney transplantation. While most cases of congenital iliac artery anomalies are symptomatic with claudication, some remain asymptomatic with normal physical examination findings. There is some evidence in literature suggesting the usefulness of routine pre-operative CT in a selective group of patients. Kidney transplantation in such cases is safe and we recommend routine pre-operative imaging of patients known to have congenital genitourniary abnormalities. The kidney should be implanted heterotopically to the contralateral side of the vascular anomaly and care must be taken to preserve vascular supply to the lower limbs. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Congenital double bile duct presenting as recurrent cholangitis in a child

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K.D. Chakravarty

2015-12-01

Full Text Available Double common bile duct (DCBD is a rare congenital anomaly. Most of these bile duct anomalies are associated with bile duct stones, anomalous pancreaticobiliary junction (APBJ, pancreatitis and bile duct or gastric cancers. Early detection and treatment is important to avoid long term complications. Surgical resection of the anomalous bile duct and reconstruction of the biliary enteric anastomosis is the treatment of choice. We report a rare case of DCBD anomaly in a girl, who presented with recurrent cholangitis. She had type Va DCBD anomaly. She underwent successful resection of the bile duct and reconstruction of the biliary enteric anastomosis. Preoperative imaging and diagnosis of the congenital biliary anomaly is very important to avoid intraoperative bile duct injury. Review of the literature shows very few cases of type Va DCBD, presenting with either bile duct stones or APBJ.

What's New in Congenital Scoliosis?

Science.gov (United States)

Pahys, Joshua M; Guille, James T

2018-03-01

Congenital scoliosis is a failure of vertebral formation, segmentation, or a combination of the 2 arising from abnormal vertebral development during weeks 4 to 6 of gestation. The associated spinal deformity can be of varying severity and result in a stable or progressive deformity based on the type and location of the anomalous vertebra(e). Bracing for congenital scoliosis is rarely indicated, while recent reports have demonstrated the utility of serial derotational casting for longer curves with multiple anomalous vertebrae as an effective "time buying strategy" to delay the need for surgery. Earlier hemivertebra excision and short-segment posterior spinal fusion have been advocated to prevent future curve progression of the deformity and/or the development of large compensatory curves. It has been shown in recent long-term follow-up studies that growth rates of the vertebral body and spinal canal are not as dramatically affected by pedicle screw instrumentation at a young age as once thought. Growth friendly surgery with either spine-based or rib-based anchors has demonstrated good results with curve correction while maintaining spinal growth. Rib-based anchors are typically more commonly indicated in the setting of chest wall abnormalities and/or when spinal anatomy precludes placement of spinal instrumentation. Recently, magnetically controlled growing rods have shown promising results in several studies that include a small subset of congenital scoliosis cases. A literature search was performed to identify existing studies related to the treatment of congenital scoliosis published from January 1, 2005 to June 1, 2016. Databases included PubMed, Medline, and the Cochrane Library. The search was limited to English articles and yielded 36 papers. This project was initiated by the Pediatric Orthopaedic Society of North America Publications Committee and was reviewed and approved by the Pediatric Orthopaedic Society of North America Presidential Line. A total of

An unusual type of congenital heart disease associated with the Holt-Oram-Syndrome

International Nuclear Information System (INIS)

Ruzic, B.; Bosnar, B.; Beleznay, O.

1981-01-01

Case report of a very rare case of Holt-Oram-Syndrome (in a seven months old baby) associated with tricuspid atresia (itself a rare condition of isolated congenital heart desease) and anomalous return of pulmonary vein into the right atrium. According to the classification based on anatomy, our case corresponds to type Ia. The diagnosis was confirmed clinically, electrocardiographically, radiologically and angiographically. (orig.) [de

[Congenital nephrogenic diabetes insipidus: about a case report].

Science.gov (United States)

Esselmani, Hicham; Yassine, Asmaa; Bouabdellah, Mounya; Benchekroun, Laila; Handor, Najat; Elalami, Sanae; Chabraoui, Layachi

2013-01-01

Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked. These forms are secondary to mutations in the gene encoding the vasopressin V2 receptor, located at position Xq28, responsible for a loss of function of this receptor. Some of these mutations may cause a partial phenotype, less severe. Forms of autosomal, recessive or dominant are more rare (10%). Treatment is symptomatic, sometimes difficult in infants. It aims to avoid episodes of dehydration. It is based on a conventional diet hypo-osmotic and administration of hydrochlorothiazide and indomethacin. We report here the case of a child with congenital nephrogenic diabetes insipidus hospitalized at Children's Hospital of Rabat and throughout this case we review the pathophysiology and clinical and biological characteristics of the disease and including importance of contribution of clinical biochemistry laboratory in the diagnosis and monitoring of this disease.

Congenital Midline Nasal Mass: Four Cases with Review of Literature

Directory of Open Access Journals (Sweden)

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.

A case report of congenital sensory neuropathy with anhidrosis

International Nuclear Information System (INIS)

Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong

1974-01-01

Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint

A case report of congenital sensory neuropathy with anhidrosis

Energy Technology Data Exchange (ETDEWEB)

Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1974-10-15

Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint.

Laparoscopic Colectomy for a Patient with Congenital Renal Agenesis

African Journals Online (AJOL)

We present a very rare case of laparoscopic colectomy for a patient with ascending colon cancer and an agenetic right kidney. A 57‑year‑old man visited our institute for further evaluation for a positive fecal occult blood test. Approximately, 20 years earlier, the right kidney of the patient was found to be congenitally absent.

Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies

NARCIS (Netherlands)

Eshuis-Peters, Ellis; Versluys, Anne Brigitta; Stokman, Marijn Fijke; van der Crabben, Saskia Nanette; Nij Bijvank, Sebastiaan W A; van Wezel-Meijler, Gerda

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria,

Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia

NARCIS (Netherlands)

van den Oudenrijn, S.; Bruin, M.; Folman, C. C.; Peters, M.; Faulkner, L. B.; de Haas, M.; von dem Borne, A. E.

2000-01-01

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder of undefined aetiology. The disease presents with severe thrombocytopenia and absence of megakaryocytes in the bone marrow. Furthermore, CAMT patients may develop bone marrow aplasia. To obtain more insight into the mechanism

A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

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Sunil Pawar

2015-11-01

Full Text Available Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. One of the siblings had a large regenerating nodule replacing the entire right lobe of the liver and other one developed repeated hematemesis. This constellation of diagnosis belongs to the ciliopathy group of disorders. The spectrum of ciliopathy disorders has been evolving, and it varies from mild to severe manifestations.

A Congenital Glaucoma Associated with Phakomatosis Pigmentovascularis in Infant Case Report

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Sakaorat Petchyim

2017-07-01

Full Text Available Phakomatosis Pigmentovascularis (PPV is the rare condition which has been classified in the same spectrum with Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome and oculodermal melanocytosis.1 PPV is the combination of widespread vascular lesions and extensive pigmentary lesions. We report a 2-monthold- infant with PPV type IIa associated with congenital glaucoma. She showed extensive Port-wine stain, extensive Mongolian spots and Café au lait spots along with soft tissue hypertrophy on her right face. She had buphthalmos on her right eye and the very high intraocular pressure, so she was diagnosed as congenital glaucoma.

Sirenomelia Apus: A Rare Deformity

Science.gov (United States)

Kshirsagar, Vinayak Y.; Ahmed, Minhajuddin; Colaco, Sylvia M.

2012-01-01

Sirenomelia also known as the mermaid syndrome, is a rare congenital malformation of uncertain etiology. It is characterized by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformations. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation. PMID:24027712

Sirenomelia apus: a rare deformity.

Science.gov (United States)

Kshirsagar, Vinayak Y; Ahmed, Minhajuddin; Colaco, Sylvia M

2012-07-01

Sirenomelia also known as the mermaid syndrome, is a rare congenital malformation of uncertain etiology. It is characterized by fusion of the lower limbs and commonly associated with severe urogenital and gastrointestinal malformations. There are approximately 300 cases reported in the literature, 15% of which are associated with twinning, most often monozygotic. The syndrome of caudal regression is thought to be the result of injury to the caudal mesoderm early in gestation.

Macrodystrophia lipomatosa: a rare presentation

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Sushil G. Kachewar

2011-07-01

Full Text Available Macrodystrophia lipomatosa is a rare congenital nonhereditary mesenchymal hamartomatous malformation resulting in localized gigantism of parts of extremities that manifests clinically as macrodactyly or megalodactyly. Radiological and Pathological hallmark is the disproportionate fibroadipose tissue proliferation in subcutaneous tissue, nerve sheaths, and periosteum that leads to soft tissue and bony enlargement. As imaging is the key to early diagnosis, findings on various modalities like plain radiographs, CT scan and MRI are highlighted here.

Congenital Multidrug-resistant Tuberculosis in a Neonate: A Case Report.

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Lhadon, Tenzin; Jullien, Sophie

2018-04-20

Multidrug-resistant tuberculosis (MDR-TB) is a well-identified raising public health concern worldwide. However, the data available on MDR-TB in children and particularly in the neonate age group are limited. Congenital tuberculosis (TB) is rare, and its diagnosis is challenging because of non-specific manifestations. The choice of anti-tubercular drugs is difficult because of the lack of international consensus as a consequence of the scarcity of evidence-based data on this age group. We hereby present a case from Bhutan of a 23-day-old male neonate with congenital MDR-TB. His mother was diagnosed with disseminated TB, and treatment was commenced 11 days post-partum. Congenital transmission of TB was suspected, as direct postnatal transmission was unlikely and thorough screening of contacts for TB was negative. In this case, the mother's MDR-TB status was revealed only after her newborn's MDR-TB diagnosis.

Congenital pancreatic pseudocyst presenting as neonatal ascites

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M. Alzaiem

2016-08-01

Full Text Available Congenital pancreatic pseudocysts are extremely rare in infants and very few cases have been reported in the literature. We are reporting a case of 2-month-old infant with pancreatic pseudocyst. He presented with progressive abdominal distension and large bilateral hydrocele. The diagnosis was based on the operative findings and further confirmed by histopathological examination of the wall of pseudocyst. Later on the patient was operated by laparoscopic assisted transgastric cystogastrostomy technique.

Congenital generalized lipodystrophia: a case report; Lipodistrofia generalizada congenita: relato de um caso

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Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V. [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

1995-01-01

Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs.

Sirenomelia and ndash; Mermaid Syndrome with Oesophageal Atresia: A Rare Case Report

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Veena Raja

2015-09-01

Full Text Available Sirenomelia or Mermaid syndrome is a very rare congenital deformity in which legs are fused together and commonly associated with abnormal kidney development, genital, and rectal abnormalities. In this present case, sirenomelia was associated with oesophageal atresia, which is a rare association and occurs in about 20-35% of cases. [J Interdiscipl Histopathol 2015; 3(3.000: 113-116

[Congenital sensorineural deafness and associated syndromes].

Science.gov (United States)

Moatti, L; Garabedian, E N; Lacombe, H; Spir-Jacob, C

1990-01-01

The etiology of perceptive deafness, especially the congenital variety, requires investigation. The presence of a variety of signs associated with deafness constitutes an "associated syndrome" and helps to define a possible genetic origin. These syndromes only represent a small percentage of overall causes of deafness in children, since at most they account for only 10% of cases. Certain syndromes are encountered more often or are well known, others are extremely rare or have only been described recently. The authors report six of these very rare syndromes discovered among their patients: a KID syndrome, a Leopard syndrome, a Norrie syndrome, a Jervell and Lange Nielsen syndrome, a recently described entity called CEE with deafness and an External Neuro-Cochleo-Pancreatic syndrome which would not appear to have been previously described.

Radiological findings of congenital lipoid adrenal hyperplasia: a case report

International Nuclear Information System (INIS)

Kim, Mi Jeong; Shin, Joo Yong; Lee, Hee Jung; Lee, Jin Hee; Sohn, Cheol Ho; Lee, Sung Moon; Kim, Hong; Woo, Seong Ku; Suh, Soo Ji

2001-01-01

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder characterized by the marked accumulation of lipids and cholesterol in the adrenal cortex, and the failure of adrenal steroids to synthesise. We report the ultrasound (US), computed tomographic (CT), and magnetic resonance (MR) imaging findings in a four-day-old female neonate with CLAH

Severe congenital penile torsion with anterior urethral diverticulum: A case report

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Amilal Bhat

2018-03-01

Full Text Available Introduction: We present a rare case of severe penile torsion of 180° along with giant congenital anterior urethral diverticula. Presentation of these two rare anomalies together is extremely rare and has not been reported yet. The extreme rarity of the case and its management warrants this presentation. Observation: A 5 years old boy presented to us as a case of epispadias with post-void dribbling and wetting of the underwears. On examination, he was found to be a case of severe congenital penile torsion with diversion and rotation of median raphae in a counterclockwise fashion upto the midline dorsally confirming 180° torsion. During voiding, there was appearance of a swelling in distal penile region with passage of urinary drops while compressing it. Micturating cystourethrogram showed diverticula in penile and bulbar urethra. Torsion was completely corrected by penile de-gloving in a plane between two layers of buck fascia and mobilization of the urethra along with spongiosum proximally upto the penoscrotal junction and distally upto the glans. Diverticula was laid open and underwent urethroplasty along with double breasting of thickened diverticular tissue. Torsion was completely corrected after surgery. Post-operative recovery was uneventful. Urine culture was sterile and uroflowmetry showed maximal urinary flow of 12 ml/s at 3 months postoperatively. Conclusions: Penile de-gloving and adequate urethral mobilization corrects the severe penile torsion of 180°. Correction of severe torsion and urethroplasty is feasible in a single stage with good results. Keywords: Penile torsion, Urethral diverticula, Congenital anomalies, Mobilization of urethra, Urethroplasty, Double Breasting, Correction of penile torsion

Successful treatment of congenital acute myeloid leukemia (AML-M6) in a premature infant.

Science.gov (United States)

van Dongen, Joyce C A; Dalinghaus, Michiel; Kroon, Andre A; de Vries, Andrica C H; van den Heuvel-Eibrink, Marry M

2009-11-01

Congenital acute myeloid leukemia (AML), and especially AML-M6 is a rare disease with a poor prognosis. Moreover, reports of treatment outcome of congenital AML-M6 in premature infants are not available. We report the first treated case of congenital AML-M6 in a premature girl, who received a full AML protocol. She presented with blueberry-muffin spots, anemia, high white blood cell count, and serious cardiopulmonary distress. Peripheral blood smears showed AML-M6 blasts. After treatment with a sequential low-dose cytarabine after birth and full-dose AML treatment according to the MRC-12 protocol at the age of 2 months, she now is in continuous complete remission for 4 years.

Neurenteric cyst - a case report of this rare disorder

NARCIS (Netherlands)

Schurink, M.; van Herwaarden-Lindeboom, M. Y. A.; Coppes, M. H.; Veldhuizen, A. G.; Koetse, H. A.; de Langen, Z. J.

Neurenteric cysts are rare congenital lesions that are believed to be the result of the split notochord syndrome. We report the clinical case of a 5-year-old boy presenting with vague gastrointestinal symptoms and fatigue, who had undergone resection of a small intestine duplication cyst as a

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

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Manne, Sriharibabu; Veeraabhinav, C H; Jetti, Mounica; Himabindu, Yalamanchali; Donthu, Kiranmai; Badireddy, Mutyalarayudu

2016-01-01

46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

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.

Congenital fibrosarcoma of the chest wall: Report of a case

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Shilpi Singh Gupta

2010-01-01

Full Text Available Congenital fibrosarcoma (CFS is a rare soft tissue tumour that usually occurs before the age of 1, and involves the distal extremities. The literature regarding the precise diagnosis and treatment of these tumours is limited. We present and discuss a case of CFS which ended fatally due to lung metastasis after 2 years.

CASE REPORT Macrodystrophia lipomatosa – MR imaging of a rare ...

African Journals Online (AJOL)

This rare congenital abnormality occurs most frequently in the .... 1st, 2nd and 3rd digits owing to gross hypertrophy of fat and soft tissue in a striated pattern. ... a part of generalised hamartomatous disorder featuring fat in the soft tissues and ...

Maxillary Hypoplasia With Congenital Oligodontia Treated by Maxillary Distraction Osteogenesis.

Science.gov (United States)

Mishima, Sayaka; Yamaguchi, Takako; Watanabe, Takuma; Komatani, Toru; Nakao, Kazumasa; Takahashi, Katsu; Bessho, Kazuhisa

2018-02-27

It is known that congenitally missing teeth can often cause differences in craniofacial morphology; however, there are few reported cases of orthognathic surgical treatment for these patients. Herein, the authors report a rare case of maxillary hypoplasia with congenital oligodontia treated by maxillary distraction osteogenesis with internal device. A 17-year-old male presenting with multiple tooth agenesis and maxillary recession was referred to our hospital for orthognathic surgical treatment. Preoperative simulation surgery was performed using Full-Color 3-dimensional salt model. After surgery, improvement in maxillary recession and occlusal stability was observed. This report demonstrates the advantages of the method used herein, which includes reduction in operating time with increase in the safety of the procedure.

Congenital CMV with LAD type 1 and NK cell deficiency.

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Rai, Narendra; Thakur, Neha

2013-08-01

We report a rare case of congenital cytomegalovirus (CMV) in a patient who was subsequently diagnosed as leukocyte adhesion defect type 1 with natural killer cell deficiency. The clinical course was complicated by severe CMV pneumonitis during the newborn period. Thereafter the infant suffered from recurrent skin infections without pus formation, otitis media, and bronchopneumonia since 3 months of age. The patient had congenital CMV infection as urine and blood plasma was positive for CMV from day 12 onward. Neutrophil chemotaxis studies showed a decrease in directed chemotaxis. Neutrophils were dyspoetic and nonfunctional lacking HLA DR, CD11c, and CD18. Lymphocytes were polyclonal but lacked CD56, CD16, and surface membrane immunoglobulin.

Serious neonatal airway obstruction with massive congenital sublingual ranula and contralateral occurrence

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Manish M. George

2015-06-01

Conclusions: The prenatal diagnosis of congenital ranulas have been seldom reported, with no reported cases of contralateral occurrence and airway obstruction from an intraoral ranula. This rare case highlights the need for a well considered contingency plan when surgery is required for a neonatal airway at risk.

OHVIRA syndrome: rare cause of chronic vaginal discharge in an unmarried female.

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Nigam, Aruna; Raghunandan, Chitra; Yadav, Reena; Tomer, Shaili; Anand, Rama

2011-09-01

Chronic vaginal discharge in adolescent and young females, not responding to antibiotics, can pose a diagnostic dilemma for many gynecologists and general practitioners. Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome) is a rare congenital anomaly. We present a case of a 22-year-old unmarried female with this syndrome presenting with chronic purulent vaginal discharge. The uniqueness about the case is its much delayed presentation. © 2011 The Authors. Congenital Anomalies © 2011 Japanese Teratology Society.

Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation.

Science.gov (United States)

Zanforlin Filho, Sebastião M; Guimarães Filho, Hélio A; Araujo Júnior, Edward; Pires, Cláudio R; Mattar, Rosiane; Nardozza, Luciano M M

2007-04-01

Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.

Sirenomelia: A rare anomaly and challenges of ultrasound diagnosis

African Journals Online (AJOL)

Background: Sirenomelia also known as mermaid syndrome is a rare congenital anomaly, characterised by disorder of the lower spine and the lower limbs. Methods: A review of medical records. Results: A neonate was delivered with fusion of the lower limbs, absence of external genitalia, imperforate anus and a single ...

Intracranial neurenteric cyst: A rare cause of chemical meningitis

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Naseer A Choh

2013-01-01

Full Text Available Intracranial neurenteric cysts are exceedingly rare congenital intracranial lesions that result from disorder of gastrulation. Still, more rarely, the cyst contents may leak into the CSF and give rise to recurrent episodes of chemical meningitis. We present a case of chemical meningitis due to a leaking posterior fossa neurenteric cyst in a young female, with emphasis on its imaging features. The final diagnosis was achieved by sufficiently characteristic imaging features; histopathologic documentation could not be achieved as the patient denied surgery.

Nonvisual spatial navigation fMRI lateralizes mesial temporal lobe epilepsy in a patient with congenital blindness.

Science.gov (United States)

Toller, Gianina; Adhimoolam, Babu; Grunwald, Thomas; Huppertz, Hans-Jürgen; König, Kristina; Jokeit, Hennric

2015-01-01

Nonvisual spatial navigation functional magnetic resonance imaging (fMRI) may help clinicians determine memory lateralization in blind individuals with refractory mesial temporal lobe epilepsy (MTLE). We report on an exceptional case of a congenitally blind woman with late-onset left MTLE undergoing presurgical memory fMRI. To activate mesial temporal structures despite the lack of visual memory, the patient was requested to recall familiar routes using nonvisual multisensory and verbal cues. Our findings demonstrate the diagnostic value of a nonvisual fMRI task to lateralize MTLE despite congenital blindness and may therefore contribute to the risk assessment for postsurgical amnesia in rare cases with refractory MTLE and accompanying congenital blindness.

The association of congenital neuroblastoma and congenital heart disease

International Nuclear Information System (INIS)

Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

1989-01-01

Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

Intestinal Duplication Cyst presenting as Volvulus: A rare case report with Review of Literatures

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Prasan Kumar Hota

2015-03-01

Full Text Available Intestinal duplication cyst is a rare congenital anomaly occurring any where along the alimentary tract, from mouth to anus. They can present with numerous complications like perforation, bleeding or intestinal obstruction. We report a rare case  of intestinal duplication cyst of ileum with acute intestinal obstruction due to volvulus with review of literature.

Bilateral cerebellopontine arachnoid cyst: A rare entity.

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Sharma, Anand; Sharma, Achal; Mittal, Radhey S; Gandhi, Ashok

2015-01-01

Bilateral cerebellopontine angle (CPA) arachnoid cysts (ACs) are very rare: only one case is reported in literature. Pathogenesis of those cysts is unknown; they are thought to be congenital. The presenting symptoms of CPA AC are frequently nonspecific or otological. The management of ACs of the CPA is controversial. We are reporting two cases of bilateral CPA AC with their pathophysiology and review of literature.

Congenital pseudarthrosis of clavicle, differential diagnosis pathology

International Nuclear Information System (INIS)

Vergara A, Enrique; Villamarin, Fernando; Pina Q, Marcela

2006-01-01

The congenital pseudarthrosis of clavicle is a rare entity, frequently appearing without association to other pathologies and does not cause important limitations in the children. It can confuse with other traumatic pathologies like clavicle fracture. Most of the patients complain about the aesthetics and few times for pain. The treatment is generally surgical there is controversy about of carrying out surgery. We reported two clinical cases with pseudoarthrosis of the right clavicle that they received surgical treatment with satisfactory results.

Congenital Unilateral Hypoplasia of Depressor Anguli Oris

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Seckin O. Ulualp

2012-01-01

Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

Mal de meleda with congenital cataract: A novel case report

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Anisha Sethi

2015-01-01

Full Text Available Mal de meleda (MdM, a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens and extend to the dorsal aspects of the hands and feet (transgrediens. It has been associated with various conditions albeit rarely with congenial cataract. Ocular lens and the skin have the same embryological origins. We hereby present this novel case report of Mal de meleda in association with congenital posterior subcapsular cataract which to the best of our knowledge has not been reported from India before.

Early treatment of congenital syngnathia. A case report

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Eduardo Alfredo Duro

2018-02-01

Full Text Available Congenital syngnathia is a rare malformation. The synechia or synostosis of the maxilla and the mandible may be partial or complete and also be associated with other malformations. The syngnathia can be developed between the upper and lower alveolar ridges with a wide spectrum and range of severity documented in case reports. The authors report a newborn with complete syngnathia and discuss the management during the first days of life. Our goal is to help attending physicians understand anatomic and functional implications of syngnathia, and become familiar with strategies used in the early caring of a newborn with congenital syngnathia. Literature reveals results of different patients with poorly documented follow-up and different management. The priority is a safe airway and early nutrition with human milk to avoid the risk of aspiration pneumonia, malnutrition, and poor growth.

Duplication of lower lip and mandible--a rare diprosopus.

Science.gov (United States)

Suhaili, D N Pengiran; Somasundaram, S; Lau, S H; Ajura, A J; Roslan, A R; Ramli, R

2011-01-01

Diprosopus or duplication of the lower lip and mandible is a very rare congenital anomaly. We report this unusual case occurring in a girl who presented to our hospital at the age of 4 months. Surgery and problems related to this anomaly are discussed. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

Congenital pyriform aperture stenosis

International Nuclear Information System (INIS)

Osovsky, Micky; Aizer-Danon, Anat; Horev, Gadi; Sirota, Lea

2007-01-01

Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

Penile Duplication and Two Anal Openings; Report of a Very Rare Case

OpenAIRE

Bakheet, Mohamed Abdel Al M.; Refaei, Mohammad

2012-01-01

Background Penile duplication (diphallus) is an extremely rare disorder. It is almost always associated with other malformations like double bladder, exstrophy of the cloacae, imperforate anus, duplication of the rectosigmoid and vertebral deformities. Meanwhile anal canal duplication, the most distal and least common duplication of the digestive tube and is a very rare congenital malformation. Case Presentation A 21 days old Egyptian neonate is reported with complete penile duplication and t...

Longitudinal bracketed epiphysis of proximal phalanx of the great toe with congenital hallux varus managed simultaneously with monorail external fixator: a case report.

Science.gov (United States)

Verma, Vineet; Batra, Amit; Singla, Rohit; Gogna, Paritosh; Magu, Narender; Gupta, Rakesh

2014-02-01

Longitudinal bracketed epiphysis (delta phalanx) is a rare congenital anomaly that affects phalanges in the hand more commonly than toes. We present a rare case of congenital hallux varus with longitudinal bracketed epiphysis of proximal phalanx with bifid distal phalanx of the great toe, which was managed with monorail type of external fixator. To the best of our knowledge, this is the first report of its successful implementation in simultaneous treatment of longitudinal bracketed epiphysis of the proximal phalanx of the great toe and hallux varus. Apart from adding to the literature a case of rare subtype of delta phalanx with hallux varus, the present study highlights the role of a reliable alternative in its management.

Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

Science.gov (United States)

Huynh, Nancy; Jeffrey, Brett G; Turriff, Amy; Sieving, Paul A; Cukras, Catherine A

2014-03-01

Inherited retinal diseases are uncommon, and the likelihood of having more than one hereditary disorder is rare. Here, we report a case of Stargardt disease and congenital stationary night blindness (CSNB) in the same patient, and the identification of two novel in-frame deletions in the GRM6 gene. The patient underwent an ophthalmic exam and visual function testing including: visual acuity, color vision, Goldmann visual field, and electroretinography (ERG). Imaging of the retina included fundus photography, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence. Genomic DNA was PCR-amplified for analysis of all coding exons and flanking splice sites of both the ABCA4 and GRM6 genes. A 46-year-old woman presented with recently reduced central vision and clinical findings of characteristic yellow flecks consistent with Stargardt disease. However, ERG testing revealed an ERG phenotype unusual for Stargardt disease but consistent with CSNB1. Genetic testing revealed two previously reported mutations in the ABCA4 gene and two novel deletions in the GRM6 gene. Diagnosis of concurrent Stargardt disease and CSNB was made on the ophthalmic history, clinical examination, ERG, and genetic testing. This case highlights that clinical tests need to be taken in context, and that co-existing retinal dystrophies and degenerations should be considered when clinical impressions and objective data do not correlate.

A Rare Anterior Abdominal Wall Defect: Omphalocele - A Case Report

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Sandeep Vilasrao Pakhale

2015-01-01

Full Text Available Two most common anterior abdominal wall defects are gastroschisis and omphalocoele or exomphalos. Gastroschisis means 'stomach cleft' which is a congenital defect of the abdominal wall, usually to the right of the umbilical cord insertion and abdominal contents herniate into the amniotic sac. Exomphalos is literally translated from the Greek, means 'outside the navel'. It is also called an Omphalocele. It is a congenital abnormality in which the contents of the abdomen herniate into the umbilical cord through the umbilical ring. Textbooks grouped them together but these are different entities. These congenital malformations have a high mortality rate. Only about 60 % of children with such type of malformations survive until the end of first year of age. A male foetus of 32 weeks gestational age was sent from Dr. Ulhas Patil Medical College and Hospital, Jalgaon (Khurd to the Department of Anatomy to examine the fetus for congenital anomalies. A case report of an Omphalocele was presented. Occurrence of such cases is very rare about 2.17 per 10000 live births as reported in literature.

Management of female congenital short patulous urethra with urethral tapering and pubovaginal sling: A report of two cases.

Science.gov (United States)

Gahlawat, Sumit; Goel, Hemant; Khattar, Nikhil

2018-01-01

Congenital short patulous urethra is a rare entity and may be associated with developmental anomalies of mullerian ducts or urogenital sinus. We report the management of two cases of congenital short patulous urethra with stress urinary incontinence (SUI). Both the patients presented with SUI; one was diagnosed with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome and the other had uterus didelphys with longitudinally septated vagina. Both patients were successfully managed by excisional tapering of the urethra and pubovaginal sling placement. SUI with congenital short patulous urethra can be managed with excisional tapering of urethra and pubovaginal sling placement.

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother

Directory of Open Access Journals (Sweden)

Amar M. Taksande

2009-11-01

Full Text Available Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities or maternal disorders Here we report a rare case of arthrogryposis in infant of diabetic mother with multiple congenital anomalies.

[Exudative enteropathy in congenital lymphedema-lymphangiectasia syndrome].

Science.gov (United States)

Heruth, M; Müller, P; Liebscher, L; Kurze, G; Richter, T

2006-01-01

Congenital peripheral elephantiasiformic alterations are very rare in paediatric patients. In a patient with lymphangiectasia-lymphedema syndrome we demonstrate over a 8-year follow-up that not only cosmetic and social indications for surgical treatments but also internal care become important during the course. We report on a boy with congenital lymphedemas of the extremities and the genital region, which were several times surgically treated. The patient became symptomatic firstly with tetanic cramps caused by malabsorption syndrome due to intestinal lymphangiectasia at the age of 6 years. Synopsis of clinical and laboratory findings and the patient's course are pointing to a mild Hennekam syndrome with still unknown aetiology. The boy developed adequately with permanent oral substitution of electrolytes and vitamins, protein-rich diet, supplementation of medium-chain fatty acids and compressing bandages. Infusions of human albumin to correct persistent hypalbuminemia as well as cytostatic treatment with cyclophosphamide as a formal trial were ineffective and are not advisable, therefore.

Congenital Membrane Causing Duodenal Obstruction and Malpositioning of the Descending Colon

Directory of Open Access Journals (Sweden)

Chee-Chee Koh

2013-08-01

Full Text Available A congenital membrane without intestinal malrotation is a rare cause of duodenal obstruction. Here we present an 11-year-old girl who had suffered from intermittent abdominal cramping pain and vomiting for more than 5 years. The image studies, including a plain abdomen roentgenogram and sonogram, showed no definite diagnosis. The upper gastrointestinal series and small bowel series showed the contrast was static over the third portion of the duodenum and the descending colon pulled up toward the epigastric area. Laparoscopic exploration revealed a congenital membrane extending from the right-side paraduodenal peritoneum through the third portion of the duodenum to the descending colon, which had caused obstruction of the third portion of the duodenum and malpositioning of the descending colon. To the best of our knowledge, this is the first case report in the literature where a congenital membrane caused both duodenal obstruction and malpositioning of the descending colon.

Prune Belly syndrome: A rare case report.

Science.gov (United States)

Samal, Sunil Kumar; Rathod, Setu

2015-01-01

Prune Belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology almost exclusive to males. We report a case of term male baby born to a 39-year-old grand multipara with previous four normal vaginal births. There was no history of genetic or congenital anomaly in her family. Examination of the baby revealed hypotonia, deficient abdominal muscle, cryptorchidism, palpable kidney, and bladder. Ultrasound examination of the abdomen revealed bilateral gross hydronephrosis and megaureter. Provisional diagnosis of PBS was made and the baby was admitted in neonatal intensive care units for further management. Routine antenatal care with ultrasonography will help in detecting renal anomalies, which can be followed postnatally. Early diagnosis of this syndrome and determining its optimal treatment are very important in helping to avoid its fatal course.

Pediatric cervicofacial actinomycosis disclosing an underlying congenital dermoid cyst

Directory of Open Access Journals (Sweden)

Santwana Verma

2014-01-01

Full Text Available Pediatric cervicofacial actinomycosis is a rare occurrence consequent to dental infections and manipulations or maxillofacial trauma. The clinical presentation ranges from multiple draining sinuses to swellings resembling tumors and cysts. The present unusual case had congenital dermoid cyst of mid upper lip with Actinomyces israelii infection identified on microscopy, culture, and histopathology. A successful outcome in the present case was obtained using combination of medical and surgical treatment.

A rare association of rectal and genitourinary duplication and anorectal malformation

Institute of Scientific and Technical Information of China (English)

王俊; 施诚仁; 余世耀; 吴燕; 徐长辉

2003-01-01

@@ It is very rare to see multiple malformations occurring in both the urogenital and digestive systems in a case of congenital anorectal malformation. In this particular care, an imperforated anus occurred with other multiple malformations, including a double kidney, urethral duplication and rectal duplication, etc.

A case of severe congenital kyphoscoliosis secondary to multiple bilateral thoracic pedicle aplasia

International Nuclear Information System (INIS)

Geoffray, Anne; Leloutre, Beatrice; Albertario, Marco; Bechard-Sevette, Nancy; Clement, Jean-Luc

2008-01-01

A 9-month-old boy with congenital kyphoscoliosis secondary to multiple bilateral thoracic pedicle aplasias is presented. This anomaly has rarely been described in the literature. Plain films showed absence of thoracic pedicles bilaterally from T2 to T9, which was better demonstrated on CT multiplanar and 3-D reformatted images. There were no neurological symptoms even though the deformity progressed rapidly. Congenital kyphosis or kyphoscoliosis is often related to spinal anomalies that are located on the anterior aspect of the vertebrae. However, posterior anomalies may also be responsible and should be recognized before neurological complications occur. (orig.)

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

International Nuclear Information System (INIS)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Mehta, Nimisha

2017-01-01

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

Energy Technology Data Exchange (ETDEWEB)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

2017-12-15

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Bilateral s-shaped kidneys: A rare congenital malformation

Directory of Open Access Journals (Sweden)

Nikhil Ranjan

2015-01-01

Full Text Available A bilateral S-shaped kidney is a rare anomaly in which both the kidneys are in their normal position, in contrast to the commonly reported S-shaped fusion anomaly, in which the contralateral kidney crosses the midline to fuse with opposite kidney leaving the ipsilateral renal fossa empty. Here we present the diagnosis and management of a case of bilateral S-shaped renal anomaly with associated left pelviureteric junction obstruction and nonfunctioning kidney and right renal stones. Left kidney was managed by open nephrectomy and right kidney by PNL.

Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.

Science.gov (United States)

Westland, Rik; Hack, Wilfried W; van der Horst, Henricus J R; Uittenbogaard, Lukas B; van Hagen, Johanna M; van der Valk, Paul; Kamsteeg, Erik J; van den Heuvel, Lambert P; van Wijk, Joanna A E

2012-12-01

Bartter syndrome encompasses a variety of inheritable renal tubular transport disorders characterized by hypokalemia and hypochloremic metabolic alkalosis. Bartter syndrome Type III is caused by genetic alterations in the chloride channel kidney B (CLCNKB) gene and often presents in the first 2 years of life, known as classic Bartter syndrome. However, in rare cases Bartter syndrome Type III has an antenatal presentation with polyhydramnios, premature delivery and severe dehydration in the first weeks of life. Associations between congenital anomalies of the kidney and urinary tract and Bartter syndrome are extremely rare. This case report presents a girl with Bartter syndrome Type III due to a homozygous CLCNKB mutation and bilateral congenital anomalies of the kidney and urinary tract. In addition, we describe the antenatal presentation as well as its perinatal management.

Huge Mesenteric Lymphangioma – A Rare Cause of Acute Abdomen

African Journals Online (AJOL)

Lymphangiomas are benign congenital masses which occur most commonly in head and neck of children and incidence of mesenteric lymphangiomas is very rare. We report such a case of huge mesenteric lymphangioma in a 20 year old male who presented to us with acute abdomen. Pre-operative diagnosis is difficult ...

Cor triatriatum dexter, atrial septal defects, and pulmonary stenosis-a rare association.

Science.gov (United States)

Simsek, Ziya; Koza, Yavuzer; Tas, Hakan

2014-04-01

Cor triatriatum dexter (CTD) is an extremely rare congenital anomaly in which the right atrium is divided into 2 chambers by a membrane. The estimated incidence of cor triatriatum has been reported as 0.1% of congenital cardiac malformations. The septation of the right atrium in the setting of CTD is the result of failed resorption of the right valve of the sinus venosus. This results in anterolateral and posteromedial portions of the divided right atrium. CTD can be diagnosed at any age, especially if it is incidentally discovered. © 2014, Wiley Periodicals, Inc.

e-ENERCA: telemedicine platform for rare anaemias

Directory of Open Access Journals (Sweden)

Béatrice Gulbis

2014-12-01

Full Text Available The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org. This is a cornerstone in the field of rare anaemias, in which national expertise is usually scarce and a significant number of patients remain undiagnosed. Experts in rare diseases are specially needed of shared knowledge platforms offering the possibility of a faster and more accurate diagnosis and the availability of a better patients’ follow-up. The platform developed by e- ENERCA will be user friendly and intuitive so it will be used by the majority of professionals without requiring a specific formation. The idea of inter professional consultation is to bring medical experts together for collaborative involvement in activities that maximize the benefits and improvement in patient care.

Laboratory diagnosis of the rare anaemias: external quality assessment benefits patient care

OpenAIRE

Barbara De La Salle; Andrea Mosca; Renata Paleari; Vasileios Rapanakis; Keith Hyde

2013-01-01

Since its introduction in the 1960s, external quality assessment has developed to become an essential component of the quality management system of the diagnostic laboratory. External quality assessment provides a long term, retrospective view of laboratory performance, demonstrating the competence of the laboratory to others. The ENERCA project (the European Network for Rare and Congenital Anaemias) has established a list of core laboratory tests that are used in the diagnosis of rare and co...

Association between Michelin tire baby syndrome and congenital panhyopituitarism in an Iranian girl.

Science.gov (United States)

Haghshenas, Zahra; Tajziehchi, Leila; Ghavami, Fakhredin

2014-08-01

Michelin tire baby syndrome is a rare syndrome, diagnosed clinically by multiple circumferential skin folds. Multiple noncutaneous anomalies have been described with this syndrome. We report a case of Michelin tire baby syndrome with congenital panhypopituitarism. To date, there is no report of association between these two disorders.

MANAGEMENT OF CONGENITAL SYMMASTIA WITH Z PLASTY : A CASE REPORT

Directory of Open Access Journals (Sweden)

Biswajit

2015-03-01

Full Text Available BACKGROUND : Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (sym meaning 'together', and mastos meaning 'breast' and was first presented by Spence et al. in 1983. Two forms of symmastia exist: congenital and acquir ed form. Congenital symmastia is a rare condition in which web - like soft tissue traverses the sternum to connect the breasts medially. There is few publication of this condition. Treatment options for this condition are also few. MATERIAL AND METHOD : Thoug h Periareolar approach, and vertical reduction mammoplasty has been described as a method to reduce the size of the breast as well as correct symmastia . We used z plasty in our case because the patient was not willing for reduction of the size of the breas t. RESULT : The patient had well defined midline groove, symmetric breast on each side. CONCLUSION : Z plasty can be an innovative method for creation of midline groove in congenital symmastia in patients of low socioeconomic status as an alternative to redu ction mammoplasty and liposuction

Congenital dislocation of knee with ipsilateral developmental dysplasia of hip

Directory of Open Access Journals (Sweden)

Sameer Kakar

2017-01-01

Full Text Available We present a rare case of a newborn having congenital knee dislocation (CDK with ipsilateral developmental dysplasia of hip (DDH. This case report shows how abnormal intrauterine pressure leads to dislocation of various joints in utero. We managed this conservatively with Pavlik Harness for DDH and serial corrective casting with manipulation for CDK with a satisfactory result after follow-up of 6 months.

Parenteral nutrition combined with rice soup can be a safe and effective intervention for congenital chylous ascites.

Science.gov (United States)

Cao, Yi; Yan, Weihui; Lu, Lina; Tao, Yijing; Lu, Wei; Chen, Yingwei; Tang, Qingya; Cai, Wei

2016-01-01

Congenital chylous ascites in the neonatal period is a rare entity. Total parenteral nutrition (TPN), medium chain triglyceride (MCT)-based diet, octreotide and repeated paracentesis are regarded as appropriate medical treatment for congenital chylous ascites, and surgery is recommended when conservative therapy has failed. We present two cases in which ascites were confirmed via an abdominal sonogram and diagnostic paracentesis. In our clinical experience, rice soup combined with PN can be a safe and effective intervention.

Congenital bronchopulmonary foregut malformation initially diagnosed as esophageal atresia type C: challenging diagnosis and treatment

NARCIS (Netherlands)

Boersma, Doeke; Koot, Bart G.; van der Griendt, Erik Jonas; van Rijn, Rick R.; van der Steeg, Alida F.

2012-01-01

Communicating bronchopulmonary foregut malformations are extremely rare congenital malformations, characterized by a communicating fistula between an isolated part of the respiratory system and the esophagus or the stomach. In this article, we present a case of esophageal atresia type C, later

The Pelvic Digit: A Rare Congenital Anomaly as a Cause of Hip Pain

OpenAIRE

Moreta-Su?rez, Jes?s; de Ugarte-Sobr?n, Oskar S?ez; S?nchez-Sobrino, Alberto; Mart?nez-De Los Mozos, Jos? Luis

2012-01-01

Introduction: The pelvic digit or pelvic rib is an unusual congenital anomaly with a finger or rib like bone formation in soft tissues around normal pelvic skeleton. This is a benign lesion and mostly an Incidental finding on radiographs. Most reported cases are asymptomatic and do not require intervention. We report a case of symptomatic pelvic rib that required surgical excision. Case Report: A 57-year-old man presented with a long history of pain and functional limitation in his right hip....

Congenital Double Lip: A Rare Deformity Treated Surgically

Science.gov (United States)

Aggarwal, Titiksha; Chawla, Kirti; Lamba, Arundeep Kaur; Faraz, Farukh; Tandon, Shruti

2016-01-01

Lip is an important aspect of facial features affecting ones personality. A deformity of the lip characterized by excessive tissue sagging below the usual giving it thicker wider appearance is referred to as double lip. It is a rare occurrence with a proposed male predilection. This article is a report of a 20 years old male with this deformity who presented with the complaint of difficult speech and poor aesthetics. There was no other history patient being systemically healthy. It was successively treated with a simple surgical technique without recurrence over a period of 12 months. PMID:27853696

Congenital epulis: a report of two cases and review of the literature ...

African Journals Online (AJOL)

Background: Congenital epulis of the newborn is a rare benign soft-tissue tumour of the gingival, which is also called gingival granular cell tumour of the newborn. These slow growing soft tissue tumors affect the gingivae of a new born child. It is essential to document the presentation and the management of this lesion ...

Congenital sensorineural hearing loss

International Nuclear Information System (INIS)

Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

1984-01-01

The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

Congenital sensorineural hearing loss

Energy Technology Data Exchange (ETDEWEB)

Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

1984-02-01

The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

Percutaneous closure of congenital aortocaval fistula with a coexisting secundum atrial septal defect

DEFF Research Database (Denmark)

Loh, Poay Huan; Jensen, Tim; Søndergaard, Lars

2012-01-01

Congenital aortocaval fistula is a very rare anomaly. Clinically, it resembles conditions that cause left-to-right shunt of blood. We report a case of such anomaly in combination with a secundum atrial septal defect in a 13-month-old girl who presented with failure to thrive and exertional respir...

Intussusception due to a cecal duplication cyst: a rare cause of acute abdomen. Case report.

Science.gov (United States)

Corroppolo, M; Zampieri, N; Erculiani, E; Cecchetto, M; Camoglio, F S

2007-01-01

Duplications of the alimentary tract are rare congenital anomalies. The ileum is the most common site, whereas rectal, duodenal, gastric and cecal duplications are extremely rare. Duplication cysts of the cecum, in a neonate, are even rarer, with only 19 cases reported in medical literature to date. We report a case of intestinal intussusception due to a cecal duplication cyst.

Prenatal education for congenital toxoplasmosis.

Science.gov (United States)

Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

2015-10-23

Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

Energy Technology Data Exchange (ETDEWEB)

Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum [Hanyang University College of Medicine, Seoul Hospital, Seoul (Korea, Republic of); Ryu, Jeong Ah [Dept. of Radiology, Hanyang University College of Medicine, Guri Hospital, Guri (Korea, Republic of); Bae, Ji Yoon [Dept. of Pathology, National Police Hospital, Seoul (Korea, Republic of)

2013-10-15

Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

Congenital hypoplasia of the medical hallucial sesamoid with avascular necrosis: A case report

International Nuclear Information System (INIS)

Song, Yoonah; Lee, Seunghun; Joo, Kyung Bin; Choi, Chan Bum; Ryu, Jeong Ah; Bae, Ji Yoon

2013-01-01

Avascular necrosis of the hallucial sesamoids is an uncommon cause of metatarsalgia, and the congenital absence of the medial sesamoid is also a rarely reported condition in the podiatric literature. It must be distinguished from other painful conditions of the sesamoid due to the opposite direction of treatment. To our knowledge, there is no reported case of congenital hypoplasia of the medial sesamoid with osteonecrosis. We report a case of nontraumatic metatarsal pains with progressive sclerosis and fragmentation of the medial sesamoid on serial radiographs, magnetic resonance imaging, and ultrasonography with an incidental finding for the absence of contralateral medial sesamoid in a 33-year-old female.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

OpenAIRE

Patel, Alpen B.; Hinni, Michael L.

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

The fourth branchial complex anomaly: a rare clinical entity.

Science.gov (United States)

Patel, Alpen B; Hinni, Michael L

2011-01-01

Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

Spontaneous knot; a rare cause of ventriculoperitoneal shunt blockage.

LENUS (Irish Health Repository)

Mohammed, Wail

2011-02-01

A 14-year old X linked congenital hydrocephalus presented with unexplained headaches and vomiting. He had external ventricular drain and intracranial pressure monitoring (ICP). Subsequently, he underwent exploration and removal of previously inserted ventriculoperitoneal (VP) shunts. On retrieval of peritoneal catheters a double knot was noted between his two distal catheters. This case illustrates a rare cause of ventriculoperitoneal shunt malfunction.

Spontaneous knot; a rare cause of ventriculoperitoneal shunt blockage.

LENUS (Irish Health Repository)

Mohammed, Wail

2012-02-01

A 14-year old X linked congenital hydrocephalus presented with unexplained headaches and vomiting. He had external ventricular drain and intracranial pressure monitoring (ICP). Subsequently, he underwent exploration and removal of previously inserted ventriculoperitoneal (VP) shunts. On retrieval of peritoneal catheters a double knot was noted between his two distal catheters. This case illustrates a rare cause of ventriculoperitoneal shunt malfunction.

Congenital cystic adenomatoid malformation of the lung: hazards of delayed diagnosis.

LENUS (Irish Health Repository)

Collins, Anne M

2012-02-01

Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.

The Return of Congenital Rickets, Are We Missing Occult Cases?

Science.gov (United States)

Elidrissy, Abdelwahab T H

2016-09-01

Congenital rickets is the term given to fetus born with clinical features of rickets, but those born with biochemical evidence of rickets without obvious clinical features still can be considered occult congenital rickets. Some of the affected babies with this disease have the intrauterine rachitic environment, but a calcium trans-placental pump prevents the fetus from having clinical features of rickets. They may present with hypocalcemia few days after birth or later with more florid features of rickets. Congenital rickets cases born with florid features reported over the last 40 years are few and can be divided into two groups. The first due to severe maternal osteomalacia in which their bones were so decalcified to have enough calcium to be pumped to their fetus. Another group in which newborn babies were hypocalcemic due to other maternal diseases as malabsorption, celiac disease, pre-eclampsia, and prematurity. All inherited rickets cases per se, or as part of other syndromes can be considered congenital rickets. Most cases seen in our region are due to maternal vitamin D deficiency with symptoms becoming obvious when the infants are breastfed, or may present with hypocalcemic convulsions or craniotabes. This is a review of congenital rickets with the aim of shedding light on this potentially acute disease that needs more attention and awareness in the neonatal period to avoid rare serious complications as cardiomyopathy or myelofibrosis and the complications of hypocalcemic convulsions. Congenital rickets cases seen simulate a tip of an ice-burg and its prevention is an important issue, especially with the tremendous urbanization with tall buildings living in sun-deprived flats as the commonest type of residence leading to the increasing incidence of maternal osteomalacia and rickets.

Employment after heart transplantation among adults with congenital heart disease.

Science.gov (United States)

Tumin, Dmitry; Chou, Helen; Hayes, Don; Tobias, Joseph D; Galantowicz, Mark; McConnell, Patrick I

2017-12-01

Adults with congenital heart disease may require heart transplantation for end-stage heart failure. Whereas heart transplantation potentially allows adults with congenital heart disease to resume their usual activities, employment outcomes in this population are unknown. Therefore, we investigated the prevalence and predictors of work participation after heart transplantation for congenital heart disease. Retrospective review of a prospective registry. United Network for Organ Sharing registry of transplant recipients in the United States. Adult recipients of first-time heart transplantation with a primary diagnosis of congenital heart disease, performed between 2004 and 2015. None. Employment status reported by transplant centers at required follow-up intervals up to 5 y posttransplant. Among 470 patients included in the analysis (mean follow-up: 5 ± 3 y), 127 (27%) worked after transplant, 69 (15%) died before beginning or returning to work, and 274 (58%) survived until censoring, but did not participate in paid work. Multivariable competing-risks regression analysis examined characteristics associated with posttransplant employment, accounting for mortality as a competing outcome. In descriptive and multivariable analysis, pretransplant work participation was associated with a greater likelihood of posttransplant employment, while the use of Medicaid insurance at the time of transplant was associated with a significantly lower likelihood of working after transplant (subhazard ratio compared to private insurance: 0.55; 95% confidence interval: 0.32, 0.95; P = .032). Employment was rare after heart transplantation for congenital heart disease, and was significantly less common than in the broader population of adults with congenital heart disease. Differences in return to work were primarily related to pretransplant employment and the use of public insurance, rather than clinical characteristics. © 2017 Wiley Periodicals, Inc.

Müllerian duct anomaly with congenital rectovaginal fistula: A rare ...

African Journals Online (AJOL)

Pregnancy in a rudimentary horn is a rare form of ectopic gestation and associated with ... of rudimentary horn pregnancy (RHP) is challenging. ... resulting in life-threatening heavy bleeding. ... intrauterine missed abortion. .... the rudimentary horn of unicornuate uterus (on table diagnosis) which had a successful outcome:.

Congenital Amegakaryocytic Thrombocytopenic Purpura (CAMT)

International Nuclear Information System (INIS)

Ghauri, R. I.; Naveed, M.; Mannan, J.

2014-01-01

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL) despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone. (author)

Prenatal diagnosis of congenital hallux varus deformity associated with pericentric inversion of chromosome 9.

Science.gov (United States)

Gürel, Sebahat Atar

2015-04-01

Congenital hallux varus is a rare deformity of the great toe characterized by adduction of the hallux and medial displacement of the first metatarsophalangeal joint. Prenatal diagnosis of congenital hallux varus is presented herein. A 32-year-old woman was referred to our unit due to significant deviation of the fetal right great toe at 22(+2) weeks of pregnancy. Ultrasound examination revealed a thick and short great toe, which was significantly angulated medially on the right side. Amniocentesis was performed and the result was reported as inv(9) (p11;q12). After delivery, the clinical examination confirmed the prenatal diagnosis. To our knowledge, this is the first reported prenatal diagnosis of an isolated congenital hallux varus. Congenital hallux varus can be diagnosed easily in the prenatal period by 2-D and 4-D ultrasonography. Prenatal karyotyping should be taken into consideration, especially in the presence of associated anomalies, such as polydactyly and clubfoot. © 2014 The Author. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

Technetium 99m pertechnetate scans in congenital hypothyroidism

International Nuclear Information System (INIS)

Bauman, R.A.; Bode, H.H.; Hayek, A.; Crawford, J.D.

1976-01-01

Goiters are rarely palpable in infants with congenital hypothyroidism except in the case of maternal ingestion of iodide. The presence or absence of glandular tissue is, however, important for genetic and prognostic counseling and for acceleration of diagnosis in other affected siblings. The detection of thyroid tissue by /sup 99m/Tc pertechnetate scans in a significant number of our patients heretofore considered athyreotic establishes that physical findings and traditional laboratory data are not adequate to determine whether or not thyroid tissue is present

Rare features associated with Mobius syndrome: Report of two cases

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Rumela Ghosh

2017-03-01

Full Text Available Mobius syndrome is a rare congenital disorder with the preliminary diagnostic criteria of congenital facial and abducent nerve palsy. Involvement of other cranial nerves, too, is common. Prevalence rate of this syndrome is approximately 1 in 100,000 neonates. It is of unknown etiology with sporadic occurrence. However, data regarding the occurrence rate in India is limited. Features such as orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities might be associated. A thorough evaluation to identify the condition and establishing an adequate treatment plan is of utmost important in this condition. We are reporting clinical and radiographic features of Mobius syndrome in two cases along with unusual findings of limb and neck deformity.

Embolization of Uterine Arteriovenous Malformations Associated with Cyanotic Congenital Heart Disease

International Nuclear Information System (INIS)

Wijesekera, N. T.; Padley, S. P.; Kazmi, F.; Davies, C. L.; McCall, J. M.

2009-01-01

Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.

Rare causes of scoliosis and spine deformity: experience and particular features

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Pliarchopoulou Fani M

2007-10-01

Full Text Available Abstract Background Spine deformity can be idiopathic (more than 80% of cases, neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities. Methods A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002. The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case. Results In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia, muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness. Nine of these patients were surgically treated. Surgery was avoided in 3 patients. Conclusion This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.

Lamb congenital lymphatic malformation - a case report

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Neria Santos

2014-01-01

Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients

DEFF Research Database (Denmark)

Badiu, Corin; Bonomi, Marco; Borshchevsky, Ivan

2017-01-01

BACKGROUND: Patients with rare diseases face health disparities and are often challenged to find accurate information about their condition. We aimed to use the best available evidence and community partnerships to produce patient education materials for congenital hypogonadotropic hypogonadism...

Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia

NARCIS (Netherlands)

Tijssen, Marloes R.; di Summa, Franca; van den Oudenrijn, Sonja; Zwaginga, Jaap Jan; van der Schoot, C. Ellen; Voermans, Carlijn; de Haas, Masja

2008-01-01

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder that presents with severe thrombocytopenia and absence of megakaryocytes in the bone marrow. The disease may develop into bone marrow aplasia. Genetic defects in the gene encoding the thrombopoietin (Tpo) receptor, MPL, are the

Usher syndrome Type I in an adult Nepalese male: a rare case report.

Science.gov (United States)

Sahu, Sabin; Singh, Sanjay Kumar

2017-07-01

Usher syndrome, also known as retinitis pigmentosa-dysacusis syndrome, is an extremely rare genetic disorder, characterized by retinitis pigmentosa (RP) and congenital sensorineural hearing loss. It has been estimated to account for 3-6% of the congenitally deaf population, upto 8-33% of individuals with RP and half of all cases with combined deafness and blindness (Vernon M,1969; Boughman JA et al,1983). The prevalence of Usher syndrome have been reported to range from 3.5 to 6.2 per 100,000 in different populations (Vernon M,1969; Boughman JA et al,1983; Yan D et al, 2010). We report a case of Usher syndrome type I in an adult Nepalese male with typical congenital profound hearing loss, and night blindness secondary to retinitis pigmentosa. © NEPjOPH.

Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic care.

Science.gov (United States)

Malik, Sajid; Afzal, Muhammad

2013-03-01

Congenital transverse limb anomalies are rare, which affect upper and/or lower limbs and may accompany several syndromic malformations. We present a sporadic male subject with congenital, unilateral transverse arrest of the left hand. The affected arm was observed to be short with reduced zeugopod and truncated palm. Fingers were represented by five bead-like nubbins. Roentgenographic examination revealed short radius and ulna with hypoplastic distal heads, absent carpals/metacarpals, and a hypoplastic bony island in each nubbin. Consanguinity was denied, and the subject had no symptoms in the orofacial, neurological and skeletal systems. Detailed clinical data with literature survey is presented.

Congenital cervical bronchogenic cyst: A case report

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Kiralj Aleksandar

2015-01-01

Full Text Available Introduction. Bronchogenic cysts are rare congenital anomalies of the embryonic foregut. They are caused by abnormal budding of diverticulum of the embryonic foregut between the 26th and 40th day of gestation. Bronchogenic cysts can appear in the mediastinum and pulmonary parenchyma, or at ectopic sites (neck, subcutaneous tissue or abdomen. So far, 70 cases of cervical localization of bronchogenic cysts have been reported. Majority of bronchogenic cysts have been diagnosed in the pediatric population. Bronchogenic cysts of the cervical area are generally asymptomatic and symptoms may occur if cysts become large or in case of infection of the cyst. The diagnosis is made based on clinical findings, radiological examination, but histopathologic findings are essential for establishing the final diagnosis. Treatment of cervical bronchogenic cyst involves surgical excision. Case Outline. Authors present a case of a 6-year-old female patient sent by a pediatrician to a maxillofacial surgeon due to asymptomatic lump on the left side of the neck. The patient had frequent respiratory infections and respiratory obstructions. Magnetic resonance imaging (MRI of the neck was performed and a well-circumscribed cystic formation on the left side of the neck was observed, with paratracheal location. The complete excision of the cyst was made transcervically. Histopathological findings pointed to bronchogenic cyst. Conclusion. Cervical bronchogenic cysts are rare congenital malformations. Considering the location, clinical findings and the radiological features, these cysts resemble other cervical lesions. Surgical treatment is important because it is both therapeutic and diagnostic. Reliable diagnosis of bronchogenic cysts is based on histopathological examination.

Advanced Hepatocellular Carcinoma in Adolescence Associated with Congenital Cholestasis: A Case Description

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Morten Ladekarl

2013-02-01

Full Text Available This case describes the clinical course and treatment of a 17-year-old male patient with advanced hepatocellular carcinoma (HCC arising in a non-cirrhotic liver. The disease was thought to be caused by a congenital cholestatic syndrome associated with intermittent oedema in childhood, resembling the rare Aagenaes syndrome. Treatment choices in advanced HCC arising in adolescence are discussed.

The Fourth Branchial Complex Anomaly: A Rare Clinical Entity

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Alpen B. Patel

2011-01-01

Full Text Available Fourth branchial pouch anomalies are rare congenital disorders of the neck and are a consequence of abnormal development of the branchial apparatus during embryogenesis. Failure to appropriately recognize these anomalies may result in misdiagnosis, insufficient treatment, and continued recurrence. Here, we present an unique presentation of two cases, describe their diagnosis, clinical course, and management, and review the literature regarding these interesting anomalies.

[Congenital toxoplasmosis: clinical manifestation, treatment and follow-up] [Article in Italian] • Il neonato con toxoplasmosi congenita: clinica, terapia e follow-up

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Lina Bollani

2014-01-01

Full Text Available Toxoplamosis is a parasitic zoonosis which occurs worldwide, but is prevalent in Europe, South America and Africa. When infection occurs for the first time during pregnancy, mother to child transmission of the parasite can cause congenital toxoplasmosis. Rate of congenital infection ranges from less than 0.1 to approximately 1 per 1,000 live births. The risk of transmission depends on the gestational age at the time of maternal infection. A diagnosis of congenital toxoplasmosis is usually considered in infants who present: hydrocephalus, chorioretinitis, and intracranial calcifications, but this triade is very rare. Approximately 85% of the infants with congenital toxoplasmosis are clinically normal at birth; however, sequelae of infection may become apparent only months or even years later. Chorioretinitis is the main complication of congenital toxoplasmosis, late onset retinal lesions and relapse can appear many years after birth, but the overall ocular prognosis is satisfactory when infection is identified and treated accordingly. Fortunately, serious neonatal forms and severe neurological impairment have become rare, but prompt treatment of children with convulsions, abnormal muscle tone, hydrocephalus, may improve the prognosis and result in almost normal outcome. For infants who have congenital toxoplasmosis, treatment soon after birth for 1 year with pyrimetamine, sulfadiazine and leukoverin led to remarkable resolution of serious, active disease. A long follow-up is necessary to assess the long-term outcome of children and young adults with congenital toxoplasmosis, that is favourable for the majority of cases. Epidemiological surveillance needs to be improved in order to determine the effectiveness of prevention programs.Articoli Selezionati del “3° Convegno Pediatrico del Medio Campidano” · Guspini · 25 Maggio 2013Guest Editor: Roberto Antonucci

Linear verrucous hemangioma-a rare case and dermoscopic clues to diagnosis.

Science.gov (United States)

Dhanta, Aditi; Chauhan, Payal; Meena, Dilip; Hazarika, Neirita

2018-01-01

Verrucous hemangioma (VH) is a rare, congenital and localized vascular malformation, which usually presents as warty, bluish, vascular papules, plaques, or nodules, mainly on the lower extremities. Linear presentation of the disease is rare. A deep biopsy is necessary to confirm the clinical diagnosis by histopathological examination, with dermoscopy acting as a useful tool for evaluating the precise vascular structure. Here, we report on a 13-year-old female child with linear VH presenting over her foot since infancy and dermoscopic findings of VH along with the clinical-pathologic features.

Balloon dilation of congenital supravalvular pulmonic stenosis in a dog

OpenAIRE

Treseder, Julia R.; Jung, SeungWoo

2017-01-01

Percutaneous balloon valvuloplasty is considered the standard of care for treatment of valvular pulmonic stenosis, a common congenital defect in dogs. Supravalvular pulmonic stenosis is a rare form of pulmonic stenosis in dogs and standard treatment has not been established. Although, there have been reports of successful treatment of supravalvular pulmonic stenosis with surgical and stenting techniques, there have been no reports of balloon dilation to treat dogs with this condition. Here, a...

Congenital varicella syndrome: cranial MRI in a long-term survivor

International Nuclear Information System (INIS)

Deasy, N.P.; Jarosz, J.M.; Cox, T.C.S.; Hughes, E.

1999-01-01

Congenital varicella syndrome is a rare disorder which follows maternal infection in the first or early second trimester. The syndrome comprises a number of malformations including microcephaly, cortical destruction and limb hypoplasia. We describe a case where there has been long-term survival following second trimester maternal infection. The clinical findings, including the characteristic lower limb hypoplasia, are documented, as are the appearances on cranial MRI indicating an encephaloclastic porencephaly. (orig.) (orig.)

Tracheostomy After Operations for Congenital Heart Disease: An Analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.

Science.gov (United States)

Mastropietro, Christopher W; Benneyworth, Brian D; Turrentine, Mark; Wallace, Amelia S; Hornik, Christoph P; Jacobs, Jeffrey P; Jacobs, Marshall L

2016-06-01

Information concerning tracheostomy after operations for congenital heart disease has come primarily from single-center reports. We aimed to describe the epidemiology and outcomes associated with postoperative tracheostomy in a multi-institutional registry. The Society of Thoracic Surgeons Congenital Heart Database (2000 to 2014) was queried for all index operations with the adverse event "postoperative tracheostomy" or "respiratory failure, requiring tracheostomy." Patients with preoperative tracheostomy or weighing less than 2.5 kg undergoing isolated closure of patent ductus arteriosus were excluded. Trends in tracheostomy incidence over time from January 2000 to June 2014 were analyzed with a Cochran-Armitage test. The patient characteristics associated with operative mortality were analyzed for January 2010 to June 2014, including deaths occurring up to 6 months after transfer of patients to long-term care facilities. From 2000 to 2014, the incidence of tracheostomy after operations for congenital heart disease increased from 0.11% in 2000 to a high of 0.76% in 2012 (p tracheostomy. The median age at operation was 2.5 months (25th, 75th percentile: 0.4, 7). Prematurity (n = 165, 26%), genetic abnormalities (n = 298, 46%), and preoperative mechanical ventilation (n = 275, 43%) were common. Postoperative adverse events were also common, including cardiac arrest (n = 131, 20%), extracorporeal support (n = 87, 13%), phrenic or laryngeal nerve injury (n = 114, 18%), and neurologic deficit (n = 51, 8%). The operative mortality was 25% (n = 153). Tracheostomy as an adverse event of operations for congenital heart disease remains rare but has been increasingly used over the past 15 years. This trend and the considerable mortality risk among patients requiring postoperative tracheostomy support the need for further research in this complex population. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Congenital Hypothyroidism

Science.gov (United States)

... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

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L. Yu. Barycheva

2015-01-01

Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

Mitochondrial disorders in congenital myopathies

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D. A. Kharlamov

2014-01-01

Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

Clinico-roentgenological atlas of congenital malformations in human limbs

International Nuclear Information System (INIS)

Luzina, E.V.; Shakirov, Eh.A.

1990-01-01

The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

Congenital unilateral absence of the pulmonary artery in adults

International Nuclear Information System (INIS)

Gonzalez Garcia, Mauricio; Escalante Mora, Hector A; Lozano Castillo, Alfonso J

2000-01-01

Unilateral absence of a pulmonary artery is a rare anomaly. It occurs with pulmonary ipsilateral hypoplasia and it's frequently associated with other cardiovascular malformations. The majority of the cases are diagnosed in childhood. This is a case report of two adult patients of the Hospital Central de la Policia Nacional in Bogota, Colombia, with unilateral absence of the pulmonary artery one isolated and the other with patent ductus arteriosus. We describe the clinical and roentgenographic findings of this congenital anomaly

[Adult congenital heart disease--between guidelines and clinical practice].

Science.gov (United States)

Chessa, Massimo

2011-01-01

Advances in medical and surgical management of congenital heart disease have changed the prognosis of infants and children with cardiac defects, so that an increasing number of patients reach adolescence and adult life, even those with complex defects. Recent data suggest that the number of adults with congenital heart disease, either repaired or not, approaches the number of children with the disorder. A cure is rarely achieved and ongoing surveillance and management in conjunction with specialists in this highly specialized field is mandatory to provide optimal care for patients. The profile of this patient population is going to change over the next few decades. Ideally specialist units should be established in appropriate geographic locations; patients need to be concentrated for expertise, experience, and optimal management. Less specialized regional centers and outpatient clinics in districts in connection with grown-up congenital heart disease units should be created. Specialist units should accept responsibility for educating the professionals, training the specialists, and sharing particular skills between each other. Guidelines and recommendations should help physicians to make decision in their daily practice. However, the final judgment regarding the care of an individual patient must be made by his/her physician. This article will briefly discuss some aspects of these dedicated guidelines and how they influence the clinical daily practice.

Leber congenital amaurosis associated with optic disk neovascularization and vitreous hemorrhage.

Science.gov (United States)

Kurz, Daryl; Ciulla, Thomas A

2003-05-01

To report an unusual case of optic disk neovascularization and vitreous hemorrhage associated with Leber congenital amaurosis (LCA). Interventional case report. A 16-year-old Caucasian girl with a history of LCA presented with decreased vision in her left eye, diffuse retinal pigmentary abnormalities characteristic of LCA, and hemorrhage over the left optic disk and macula. Six months of follow-up revealed optic disk neovascularization. A small amount of neovascularization was noted in the right eye at 6 months. An extensive systemic evaluation indicated no other cause for the neovascularization. Panretinal photocoagulation was performed in both eyes, and subsequently the neovascularization regressed. Leber congenital amaurosis like retinitis pigmentosa, can rarely be associated with neovascularization of the disk, which is amenable to treatment with peripheral photocoagulation if it does not spontaneously regress.

Lung Ultrasound Findings in Congenital Pulmonary Airway Malformation.

Science.gov (United States)

Yousef, Nadya; Mokhtari, Mostafa; Durand, Philippe; Raimondi, Francesco; Migliaro, Fiorella; Letourneau, Alexandra; Tissières, Pierre; De Luca, Daniele

2018-05-01

 Congenital pulmonary airway malformation (CPAM) is a group of rare congenital malformations of the lung and airways. Lung ultrasound (LU) is increasingly used to diagnose neonatal respiratory diseases since it is quick, easy to learn, and radiation-free, but no formal data exist for congenital lung malformations. We aimed to describe LU findings in CPAM neonates needing neonatal intensive care unit (NICU) admission and to compare them with a control population.  A retrospective review of CPAM cases from three tertiary academic NICUs over 3 years (2014-2016) identified five patients with CPAM who had undergone LU examination. LU was compared with chest radiograms and computed tomography (CT) scans that were used as references.  CPAM lesions were easily identified and corresponded well with CT scans; they varied from a single large cystic lesion, multiple hypoechoic lesions, and/or consolidation. The first two LU findings have not been described in other respiratory conditions and were not found in controls.  We provide the first description of LU findings in neonates with CPAM. LU may be used to confirm antenatally diagnosed CPAM and to suspect CPAM in infants with respiratory distress if cystic lung lesions are revealed. Further studies are necessary to define the place of LU in the management of CPAM. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Orthotopic liver transplantation for portosystemic encephalopathy in an adult with congenital absence of the portal vein

NARCIS (Netherlands)

Wojcicki, M; Haagsma, EB; Gouw, ASH; Slooff, MJH; Porte, RJ

Congenital absence of the portal vein (CAPV) is a very rare venous malformation in which mesenteric venous blood drains directly into the systemic circulation. There is no portal perfusion of the liver and no portal hypertension. This abnormality is usually coincidentally discovered in children, the

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

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Ana Töpf

Full Text Available Rare variants in certain transcription factors involved in cardiac development cause Mendelian forms of congenital heart disease. The purpose of this study was to systematically assess the frequency of rare transcription factor variants in sporadic patients with the cardiac outflow tract malformation tetralogy of Fallot (TOF.We sequenced the coding, 5'UTR, and 3'UTR regions of twelve transcription factor genes implicated in cardiac outflow tract development (NKX2.5, GATA4, ISL1, TBX20, MEF2C, BOP/SMYD1, HAND2, FOXC1, FOXC2, FOXH, FOXA2 and TBX1 in 93 non-syndromic, non-Mendelian TOF cases. We also analysed Illumina Human 660W-Quad SNP Array data for copy number variants in these genes; none were detected. Four of the rare variants detected have previously been shown to affect transactivation in in vitro reporter assays: FOXC1 p.P297S, FOXC2 p.Q444R, FOXH1 p.S113T and TBX1 p.P43_G61del PPPPRYDPCAAAAPGAPGP. Two further rare variants, HAND2 p.A25_A26insAA and FOXC1 p.G378_G380delGGG, A488_491delAAAA, affected transactivation in in vitro reporter assays. Each of these six functionally significant variants was present in a single patient in the heterozygous state; each of the four for which parental samples were available were maternally inherited. Thus in the 93 TOF cases we identified six functionally significant mutations in the secondary heart field transcriptional network.This study indicates that rare genetic variants in the secondary heart field transcriptional network with functional effects on protein function occur in 3-13% of patients with TOF. This is the first report of a functionally significant HAND2 mutation in a patient with congenital heart disease.

Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome

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N. A. Kovalenko-Klychkova

2013-01-01

Full Text Available Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions.

A review of congenital lung malformations with a simplified classification system for clinical and research use.

Science.gov (United States)

Seear, Michael; Townsend, Jennifer; Hoepker, Amy; Jamieson, Douglas; McFadden, Deborah; Daigneault, Patrick; Glomb, William

2017-06-01

Congenital lung abnormalities are rare malformations increasingly detected early by prenatal ultrasound. Whether management of these frequently asymptomatic lesions should be surgical or conservative is an unresolved issue. The necessary prospective studies are limited by the absence of a widely accepted practical classification system. Our aim was to develop a simple, clinically relevant system for classifying and studying congenital lung abnormalities. We based our proposed grouping on a detailed analysis of clinical, radiological, and histological data from well-documented cases, plus an extensive review of the literature. The existence of hybrid lesions and common histological findings suggested a unified embryological mechanism-possibly obstruction of developing airways with distal dysplasia. Malformations could be classified by their anatomical and pathological findings; however, a system based on the prenatal ultrasound plus initial chest X-ray findings had greater clinical relevance: Group 1-Congenital solid/cystic lung malformation, Group 2-Congenital hyperlucent lobe, Group 3-Congenital small lung. Pathological classification is academically important but is unnecessarily complex for clinical and research use. Our simple radiological-based system allows unambiguous comparison between the results of different studies and also guides the choice of necessary investigations specific to each group.

Congenital long QT syndrome in children

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Cerović Ivana

2016-01-01

-phenotype correlation of congenital LQTS and enable eventual genetically-guided personalized treatment, novel insight into rare LQTS types, as well as more precise recommendations for physical activity of LQTS children.

Cytomegalovirus Congenital Cataract

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Ridha Wahyutomo

2011-06-01

Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

Congenital hernia of the umbilical cord associated with extracelomic colonic atresia and perforation of gut in a newborn

Directory of Open Access Journals (Sweden)

Kamalesh Pal

2014-01-01

Full Text Available Congenital hernia of the umbilical cord (CHUC is a rare congenital entity compared to more common post-natally occurring umbilical hernia. Although recognized as a distinct entity since 1920s, CHUC is often misdiagnosed as a small omphalocele, resulting in its underreporting. We present the first case report of CHUC associated with extracelomic colonic atresia, complicated by perinatal perforation in a newborn. We also discuss the differentiating features from other anterior abdominal wall defects such as omphalocele and gastroschisis including its embryogenesis.

MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S

International Nuclear Information System (INIS)

Peserico, A.; Bertoli, P.; Battistella, P.A.

1992-01-01

PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination. (orig.)

MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S

Energy Technology Data Exchange (ETDEWEB)

Peserico, A.; Bertoli, P. (Ist. di Clinica Dermosifilopatica, Padua Univ. (Italy)); Battistella, P.A. (Dipt. di Pediatria, Padua Univ. (Italy))

1992-08-01

PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination. (orig.).

Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.

Science.gov (United States)

Caridi, Gianluca; Dagnino, Monica; Erdeve, Omer; Di Duca, Marco; Yildiz, Duran; Alan, Serdar; Atasay, Begum; Arsan, Saadet; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo

2014-01-01

Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in a female newborn of consanguineous (first degree cousins) parents from Ankara, Turkey, who presented with a low albumin concentration (A transition at position c.1652+1, the first base of intron 12, which inactivates the strongly conserved GT dinucleotide at the 5' splice site consensus sequence of this intron. The splicing defect results in the complete skipping of the preceding exon (exon 12) and in a frame-shift within exon 13 with a premature stop codon after the translation of three mutant amino acid residues. Our results confirm the clinical diagnosis of congenital analbuminemia in the proband and the inheritance of the trait and contribute to shed light on the molecular genetics of analbuminemia.

The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

DEFF Research Database (Denmark)

Hansen, Lars; Yao, Wenliang; Eiberg, Hans

2006-01-01

"Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We r...

Iatrogenic gastric perforation in a misdiagnosed case of late presenting congenital diaphragmatic hernia: Report of an avoidable complication

Directory of Open Access Journals (Sweden)

Pradeep Kajal

Full Text Available Introduction: Congenital diaphragmatic hernia (CDH is a defect in diaphragm which usually presents with severe respiratory distress in neonatal period. Presentation of case: We present a case of congenital diaphragmatic hernia presenting at an age of 2.5 years in a male child. It was misdiagnosed as a case of pyothorax for which chest tube was attempted on left side resulting in iatrogenic gastric perforation. The patient was managed by early and prompt surgery. Discussion: Late presentation is usually rare with vast array of respiratory and gastrointestinal symptoms. It often leads to clinical and radiological misdiagnosis. Conclusion: Surgical intervention in misdiagnosed cases can lead to catastrophic iatrogenic complications. Keywords: Case report, Congenital diaphragmatic hernia, Pyothorax, Chest tube, Iatrogenic gastric perforation

Intracranial Hemorrhage: A Devastating Outcome of Congenital Bleeding Disorders-Prevalence, Diagnosis, and Management, with a Special Focus on Congenital Factor XIII Deficiency.

Science.gov (United States)

Alavi, Seyed Ezatolla Rafiee; Jalalvand, Masumeh; Assadollahi, Vahideh; Tabibian, Shadi; Dorgalaleh, Akbar

2018-04-01

Intracranial hemorrhage (ICH) is a medical emergency. In congenital bleeding disorders, ICH is a devastating presentation accompanied with a high rate of morbidity and mortality. The prevalence of ICH is highly variable among congenital bleeding disorders, with the highest incidence observed in factor (F) XIII deficiency (FXIIID) (∼30%). This life-threatening presentation is less common in afibrinogenemia, FVIII, FIX, FVII, and FX deficiencies, and is rare in severe FV and FII deficiencies, type 3 von Willebrand disease and inherited platelet function disorders (IPFDs). In FXIIID, this diathesis most often occurs after trauma in children, whereas spontaneous ICH is more frequent in adults. About 15% of patients with FXIIID and ICH die; the bleeding causes 80% of deaths in this coagulopathy. Although in FXIIID, the bleed most commonly is intraparenchymal (> 90%), epidural, subdural, and subarachnoid hemorrhages also have been reported, albeit rarely. As this life-threatening bleeding causes neurological complications, early diagnosis can prevent further expansion of the hematoma and secondary damage. Neuroimaging plays a crucial role in the diagnosis of ICH, but signs and symptoms in patients with severe FXIIID should trigger replacement therapy even before establishment of the diagnosis. Although a high dose of FXIII concentrate can reduce the rate of morbidity and mortality of ICH in FXIIID, it may occasionally trigger inhibitor development, thus complicating ICH management and future prophylaxis. Nevertheless, replacement therapy is the mainstay of treatment for ICH in FXIIID. Neurosurgery is performed in patients with FXIIID and epidural hematoma and a hemorrhage diameter exceeding 2 cm or a volume of ICH is more than 30 cm 3 . Contact sports are not recommended in people with FXIIID as they can elicit ICH. However, a considerable number of safe sports and activities have been suggested to have more benefits than dangers for patients with congenital bleeding

Congenital Fibrosis of the Extraocular Muscles

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Leyla Niyaz

2014-08-01

Full Text Available Congenital fibrosis of the extraocular muscles (CFEOM is a rare disorder characterized by hereditary non-progressive restrictive strabismus and blepharoptosis. Although most of the cases are bilateral and isolated, some patients may have systemic findings. CFEOM is divided into three groups as CFEOM 1, 2, and 3 according to the phenotype. Primary responsible genes are KIF21A for CFEOM type 1 and 3 and PHOX2A/ARIX gene for CFEOM type 2. Studies suggest that abnormal innervation of the extraocular muscles is the cause of muscle fibrosis. Early treatment is important because of the risk of amblyopia. Surgery is the primary treatment option for strabismus and blepharoptosis. (Turk J Ophthalmol 2014; 44: 312-5

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

Science.gov (United States)

Casaccia, Germana; Mobili, Luisa; Braguglia, Annabella; Santoro, Francesco; Bagolan, Pietro

2006-03-01

Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found. Copyright 2006 Wiley-Liss, Inc.

Congenital Abnormalities

Science.gov (United States)

... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia

DEFF Research Database (Denmark)

Hellström Pigg, Maritta; Bygum, Anette; Gånemo, Agneta

2016-01-01

Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic...... ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth......-100%). A scoring (0-4) of ichthyosis/ery-thema past infancy showed widely different mean values in the subgroups: HI (3.2/3.1), LI (2.4/0.6), CIE (1.8/1.6), PI (1.1/0.3). Novel or recurrent mutations were found in 113 patients: TGM1 (n = 56), NIPAL4 (n = 15), ALOX12B (n = 15), ABCA12 (n = 8), ALOXE3 (n = 9), SLC27...

Acute gastric volvulus and congenital diaphragmatic hernia, case report and review

Directory of Open Access Journals (Sweden)

Laura Pérez-Egido

2015-01-01

Full Text Available Congenital diaphragmatic hernia (CDH is the result of the incomplete fusion and closure of the pleuroperitoneal canal during the fetal development. CDH is usually diagnosed prenatally but, if undiagnosed, the clinical presentation ranges from asymptomatic children to serious respiratory or gastrointestinal symptoms. Acute gastric volvulus associated with CDH is a rare surgical emergency in children. We report two cases of acute gastric volvulus associated with CDH and review the literature.

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

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

2015-04-15

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

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

International Nuclear Information System (INIS)

Chiramel, George Koshy; Keshava, Shyamkumar Nidugala; Moses, Vinu; Mammen, Suraj; David, Sarada; Sen, Sudipta

2015-01-01

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

A RARE CASE OF BILATERAL MICROSPHEREPHAKIA

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Pandu

2015-05-01

Full Text Available Microspherophakia is rare bilateral congenital anamoly of the crystalline lens. The condition may be isolated , familial or it may be associated with systemic affections like Marfan's syndrome , Weil - Marchesani syndrome , hyperlysinemia and congenital rubella. Microspherophakia results in lenticular myopia , lens dislocation , usually inferiorly and inverse glaucoma. We present a case in a 8 year old child who presented with bilateral microspherophakia and anterior dislocation of lens of right eye. visual acuity in right eye was counting fingers close to face and i n left eye 6/60.IOP with perkins applanation tonometer was 30mmHg in right eye 22mmHg in left eye , cornea was hazy due to edema , anterior chamber was shallow in both eye patient was managed with emergency lens extraction of right eye and secondary ACIOL im plantation. Left eye was managed by laser peripheral iridotomy. IOP was within normal limits postoperatively in both eyes without any antiglaucoma medications. Postoperatively best corrected visual acuity in right was 6/18 and 6/9 in left eye.

Congenital tuberculosis

African Journals Online (AJOL)

Prof Ezechukwu

2012-06-20

Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

Waardenburg syndrome: A rare case

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Shivlal M Rawlani

2018-01-01

Full Text Available Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.

Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.

Science.gov (United States)

Marcadier, Julien L; Boland, Margaret; Scott, C Ronald; Issa, Kheirie; Wu, Zaining; McIntyre, Adam D; Hegele, Robert A; Geraghty, Michael T; Lines, Matthew A

2015-02-03

Congenital sucrase-isomaltase deficiency is a rare hereditary cause of chronic diarrhea in children. People with this condition lack the intestinal brush-border enzyme required for digestion of di- and oligosaccharides, including sucrose and isomaltose, leading to malabsorption. Although the condition is known to be highly prevalent (about 5%-10%) in several Inuit populations, the genetic basis for this has not been described. We sought to identify a common mutation for congenital sucrase-isomaltase deficiency in the Inuit population. We sequenced the sucrase-isomaltase gene, SI, in a single Inuit proband with congenital sucrase-isomaltase deficiency who had severe fermentative diarrhea and failure to thrive. We then genotyped a further 128 anonymized Inuit controls from a variety of locales in the Canadian Arctic to assess for a possible founder effect. In the proband, we identified a novel, homozygous frameshift mutation, c.273_274delAG (p.Gly92Leufs*8), predicted to result in complete absence of a functional protein product. This change was very common among the Inuit controls, with an observed allele frequency of 17.2% (95% confidence interval [CI] 12.6%-21.8%). The predicted Hardy-Weinberg prevalence of congenital sucrase-isomaltase deficiency in Inuit people, based on this single founder allele, is 3.0% (95% CI 1.4%-4.5%), which is comparable with previous estimates. We found a common mutation, SI c.273_274delAG, to be responsible for the high prevalence of congenital sucrase-isomaltase deficiency among Inuit people. Targeted mutation testing for this allele should afford a simple and minimally invasive means of diagnosing this condition in Inuit patients with chronic diarrhea. © 2015 Canadian Medical Association or its licensors.

Congenital distal humeral dysplasia: a case report

International Nuclear Information System (INIS)

Joseph, Benjamin; Varghese, Renjit A.

2003-01-01

Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed. (orig.)

Spontaneous regression of a congenital melanocytic nevus

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Amiya Kumar Nath

2011-01-01

Full Text Available Congenital melanocytic nevus (CMN may rarely regress which may also be associated with a halo or vitiligo. We describe a 10-year-old girl who presented with CMN on the left leg since birth, which recently started to regress spontaneously with associated depigmentation in the lesion and at a distant site. Dermoscopy performed at different sites of the regressing lesion demonstrated loss of epidermal pigments first followed by loss of dermal pigments. Histopathology and Masson-Fontana stain demonstrated lymphocytic infiltration and loss of pigment production in the regressing area. Immunohistochemistry staining (S100 and HMB-45, however, showed that nevus cells were present in the regressing areas.

Hyperthyroidism hidden by congenital central hypoventilation syndrome.

Science.gov (United States)

Fox, Danya A; Weese-Mayer, Debra E; Wensley, David F; Stewart, Laura L

2015-05-01

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with severe central hypoventilation. CCHS results from a mutation in the paired-like homeobox 2B gene (PHOX2B). In addition to hypoventilation, patients with CCHS display a wide array of autonomic nervous system abnormalities, including decreased heart rate variability and abrupt sinus pauses, esophageal dysmotility, abnormal pupillary light response, and temperature dysregulation, to name a few. To date, there has been no documentation of a child with both CCHS and hyperthyroidism. We report the case of a young child with CCHS who presented with tachycardia, which was later found to be due to Grave's disease, after many months of investigation.

Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

Science.gov (United States)

Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

2013-09-01

Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

OpenAIRE

Mitra Souvik; Samanta Moumita; Sarkar Mihir; Chatterjee Sukanta

2010-01-01

Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide till February 2009 out of which 4 have been previously reported from India. We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination ...

[Postnatal diagnosis of gastric volvulus revealing congenital diaphragmatic hernia].

Science.gov (United States)

Aprahamian, A; Nouyrigat, V; Grévent, D; Hervieux, E; Chéron, G

2017-05-01

Postnatally diagnosed congenital diaphragmatic hernias (CDH) are rare and have a better prognosis than those diagnosed prenatally. Postnatal symptoms can be respiratory, digestive, or mixed. Gastric volvulus can reveal CDH. Symptoms are pain, abdominal distension, and/or vomiting. Upper gastrointestinal barium X-ray radiography provides the diagnosis. Prognosis is related to early surgical management in complicated forms with intestinal occlusion or sub-occlusion. We report on an infant who presented with vomiting, which revealed gastric volvulus associated with a CDH. Progression was favorable after surgical treatment. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Congenital asymptomatic diaphragmatic hernias in adults: a case series.

Science.gov (United States)

Bianchi, Enrica; Mancini, Paola; De Vito, Stefania; Pompili, Elena; Taurone, Samanta; Guerrisi, Isabella; Guerrisi, Antonino; D'Andrea, Vito; Cantisani, Vito; Artico, Marco

2013-05-13

Congenital diaphragmatic hernia is a major malformation occasionally found in newborns and babies. Congenital diaphragmatic hernia is defined by the presence of an orifice in the diaphragm, more often to the left and posterolateral, that permits the herniation of abdominal contents into the thorax. The aim of this case series is to provide information on the presentation, diagnosis and outcome of three patients with late-presenting congenital diaphragmatic hernias. The diagnosis of congenital diaphragmatic hernia is based on clinical investigation and is confirmed by plain X-ray films and computed tomography scans. In the present report three cases of asymptomatic abdominal viscera herniation within the thorax are described. The first case concerns herniation of some loops of the large intestine into the left hemi-thorax in a 75-year-old Caucasian Italian woman. The second case concerns a rare type of herniation in the right side of the thorax of the right kidney with a part of the liver parenchyma in a 57-year-old Caucasian Italian woman. The third case concerns herniation of the stomach and bowel into the left side of the chest with compression of the left lung in a 32-year-old Caucasian Italian man. This type of hernia may appear later in life, because of concomitant respiratory or gastrointestinal disease, or it may be an incidental finding in asymptomatic adults, such as in the three cases featured here. Patients who present with late diaphragmatic hernias complain of a wide variety of symptoms, and diagnosis may be difficult. Additional investigation and research appear necessary to better explain the development and progression of this type of disease.

HARLEQUIN ICTHYOSIS: A RARE CASE REPORT

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Pradipprava Paria

2016-01-01

Full Text Available Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1:300,000. The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very susceptible to metabolic abnormalitites and infections. They usually do not survive for very long. we report here a case of a new born with harlequin ichthyosis of consaguinious parentage who had a history of similar birth previously.

Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

Science.gov (United States)

Trautmann, Agnes; Bodria, Monica; Ozaltin, Fatih; Gheisari, Alaleh; Melk, Anette; Azocar, Marta; Anarat, Ali; Caliskan, Salim; Emma, Francesco; Gellermann, Jutta; Oh, Jun; Baskin, Esra; Ksiazek, Joanna; Remuzzi, Giuseppe; Erdogan, Ozlem; Akman, Sema; Dusek, Jiri; Davitaia, Tinatin; Özkaya, Ozan; Papachristou, Fotios; Firszt-Adamczyk, Agnieszka; Urasinski, Tomasz; Testa, Sara; Krmar, Rafael T; Hyla-Klekot, Lidia; Pasini, Andrea; Özcakar, Z Birsin; Sallay, Peter; Cakar, Nilgun; Galanti, Monica; Terzic, Joelle; Aoun, Bilal; Caldas Afonso, Alberto; Szymanik-Grzelak, Hanna; Lipska, Beata S; Schnaidt, Sven; Schaefer, Franz

2015-04-07

Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome. Since August of 2009, clinical, biochemical, genetic, and histopathologic information was collected both retrospectively and prospectively from 1655 patients with childhood-onset steroid-resistant nephrotic syndrome, congenital nephrotic syndrome, or persistent subnephrotic proteinuria of likely genetic origin at 67 centers in 21 countries through an online portal. Steroid-resistant nephrotic syndrome manifested in the first 5 years of life in 64% of the patients. Congenital nephrotic syndrome accounted for 6% of all patients. Extrarenal abnormalities were reported in 17% of patients. The most common histopathologic diagnoses were FSGS (56%), minimal change nephropathy (21%), and mesangioproliferative GN (12%). Mutation screening was performed in 1174 patients, and a genetic disease cause was identified in 23.6% of the screened patients. Among 14 genes with reported mutations, abnormalities in NPHS2 (n=138), WT1 (n=48), and NPHS1 (n=41) were most commonly identified. The proportion of patients with a genetic disease cause decreased with increasing manifestation age: from 66% in congenital nephrotic syndrome to 15%-16% in schoolchildren and adolescents. Among various intensified immunosuppressive therapy protocols, calcineurin inhibitors and rituximab yielded consistently high response rates, with 40%-45% of patients achieving complete remission. Confirmation of a genetic diagnosis but not the

An Infant with Splenohepatomegaly: A Rare Cause

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Kathiravan Kalyanasundaram

2014-01-01

Full Text Available Osteopetrosis is a rare congenital disorder of bone resorption, caused by failure of osteoclasts to reabsorb immature bone. Malignant infantile osteopetrosis presents in early life with generalized osteosclerosis and decreased bone marrow spaces, resulting in anemia, splenohepatomegaly due to extramedullary hematopoiesis, cranial nerve compression, and growth failure. It is a fatal condition with death occurring within the first year of life. Bone marrow transplant remains the only curative treatment. We present a report of an infant with splenohepatomegaly, who was diagnosed with malignant infantile osteopetrosis.

A Rare Case of Pulmonary Artery Sling with the VACTERL Association in a 20-Month-Old Infant.

Science.gov (United States)

Ghandi, Yazdan; Shafiee, Akbar; Sharifi, Mehrazad; Bolandnazar, Najmeh Sadat

2017-07-01

The VACTERL association, co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, is a rare congenital anomaly. Several cardiac anomalies have been reported as a part of the VACTERL association, particularly ventricular and atrial septal defects. Pulmonary artery sling is a rare congenital abnormality in which the left pulmonary artery arises from the right pulmonary artery. This anomaly is not frequently observed in the VACTERL association and has been rarely reported. A 20-month-old girl was admitted to our hospital due to pneumonia in the right lung, which had pulmonary artery sling as a part of the VACTERL association. Barium meal X-ray showed pressure effects on the esophagus, and computed tomography angiography revealed pulmonary artery sling. Pneumonia management was done. However, the parents of our patient refused to give consent for the surgical correction of this vascular anomaly. Three months after discharge from the hospital, the patient was visited, at which time the parents again refused surgery and treatment for their daughter despite our recommendations.

Congenital orbital teratoma

OpenAIRE

Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-01-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The p...

Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency

DEFF Research Database (Denmark)

Johannsen, Trine H; Mallet, Delphine; Dige-Petersen, Harriet

2005-01-01

Classical 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency is a rare cause of congenital adrenal hyperplasia. We report two sisters presenting with delayed diagnoses of classical 3beta-HSD, despite salt wasting (SW) episodes in infancy. Sibling 1 was referred for premature pubarche, slig...

[Good's syndrome and congenital toxoplasmosis due to maternal reactivation during pregnancy].

Science.gov (United States)

Tahiri, J; Fouyssac, F; Morel, O; Maatouk, A

2017-05-01

Good syndrome is a rare condition in which thymoma is associated with hypogammaglobulinemia. It is characterized by an increased susceptibility to infections. We report a woman with Good's syndrome diagnosed after severe congenital toxoplasmosis in her daughter, even though she was immunized against this infection during pregnancy. This presentation is very unusual by its early diagnosis and to our knowledge is the first report of parasitic infection in this syndrome. Copyright © 2016. Published by Elsevier SAS.

Congenital, solitary, large, intrahepatic arterioportal fistula in a child: management and review of the literature

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Kumar, Nagappan; de Ville de Goyet, Jean; Sharif, Khalid; McKiernan, Patrick [Liver Unit, Birmingham Children' s Hospital NHS Trust, Steelhouse Lane, Birmingham B4 6NH (United Kingdom); John, Philip [Department of Radiology, Birmingham Children' s Hospital NHS Trust, Birmingham (United Kingdom)

2003-01-01

Congenital intrahepatic arterioportal fistula (APF) is a rare condition. In most cases, the symptoms and complications develop during infancy. We report here the incidental finding of a large and solitary congenital APF in a 13-year-old boy, with subsequent related clinical complications. At angiography, an APF connecting the left hepatic artery and the left branch of the portal vein (PV) was demonstrated with reversed flow in the left and main PV. The fistula was successfully occluded, in a single embolisation session, using an Amplatzer occlusion device. This was associated with immediate restoration of normal hepatopetal flow in the PV and followed by resolution of the clinical signs of portal hypertension. This patient is the oldest child with congenital intrahepatic APF to be reported. We emphasise the interest of using a large device (Amplatzer) to occlude a solitary large APF in a single session and, more importantly, to avoid other possible complications related to embolisation. (orig.)

MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

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Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi [Dokkyo Medical University, Department of Radiology, Mibu, Shimotsuga-gun, Tochigi (Japan); Watanabe, Hiroshi [Dokkyo Medical University, Department of Obstetrics and Gynecology, Mibu (Japan); Watabe, Yoshiyuki; Suzumura, Hiroshi [Dokkyo Medical University, Department of Pediatrics, Mibu (Japan)

2008-03-15

Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

International Nuclear Information System (INIS)

Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi; Watanabe, Hiroshi; Watabe, Yoshiyuki; Suzumura, Hiroshi

2008-01-01

Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

Comparing Life Quality Strategies and Emotion Regulation in People with Congenital and Non-Congenital Motor Disability

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Seyedeh Zeynab Miraghaei

2017-10-01

Full Text Available Objective: The purpose of the present study was to compare emotion regulation strategies and life quality of people with congenital and non-congenital motor disabilities. Method: This study is a casual-comparative study and its population consisted of all people with congenital and non-congenital motor disability in Kahrizak Charity Foundation in Tehran in 2016. To conduct the study, available sampling method was used, and congenital and non-congenital disabled people were selected (200 people. To collect data, Cognitive Emotion Regulation Scale by Granovsky and life quality questionnaire were used. Research hypotheses were tested using multivariate analysis of variance. Results: The findings of this study showed that there is a significant difference between emotion regulation components in people with congenital and non-congenital disabilities (p<0.05. Also, according to the findings, a significant difference was observed between life quality dimensions (physical and mental health in people with congenital and non-congenital disabilities (p<0.05. Conclusion: According to the significant difference between two groups of subjects, necessary measures regarding consultation and psychotherapy should be taken into consideration to let people benefit from desirable mental health level.

Key aspects congenital infection

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Yu. V. Lobzin

2014-01-01

Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a

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Rathe, Mathias; Møller, Michael Boe; Greisen, Pernille Wied

2018-01-01

The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient...... presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull...

Situs Inversus with Levocardia and Congenitally Corrected Transposition of Great Vessels in a 35 year old Male: A Case report.

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Ghorbnazadeh, Atefeh; Zirak, Nahid; Fazlinezhad, Afsoon; Moenipour, Aliasghar; Manshadi, Hamid Hoseinikhah; Teshnizi, Mohammad Abbasi

2017-01-01

Situs inversus with levocardia and congenitally corrected transposition of the great arteries represents a relatively very rare congenital condition and most patients are diagnosed in infancy or early age. This case report describes a 35-year old man with congenitally corrected transposition of the great arteries which presented with a five month history of exertional dyspnea. A diagnosis was confirmed by transesophageal echocardiogram, showing situs inversus, levocardia, atrioventricular and ventriculoarterial discordance. He underwent physiologic repair, and was discharged thirty five days after the operation, in a good general condition. Although management of the corrected transposition of the great arteries patients remains controversial, the recommendation is that physiologic repair may be the procedure of choice for some patients, particularly complicated cases.

Congenital Intrahepatic Portosystemic Shunts

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Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

2008-12-15

Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

Gastrointestinal stromal tumor of Meckel's diverticulum: a rare cause of intestinal volvulus.

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Cengız, Fevzi; Sun, Mehmet Ali; Esen, Özgür Sipahi; Erkan, Nazif

2012-08-01

Meckel's diverticulum is the most common congenital abnormality of the gastrointestinal tract. Most cases are asymptomatic; however, when symptomatic, it is often misdiagnosed at presentation. Common complications presenting in adults include bleeding, obstruction, diverticulitis, and perforation. Tumors within a Meckel's diverticulum are rare. Herein, we present a gastrointestinal stromal tumor arising from the Meckel's diverticulum that led to intestinal obstruction by volvulus.

Surgery for congenital choanal atresia.

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Cedin, Antonio C; Atallah, Alvaro N; Andriolo, Régis B; Cruz, Oswaldo L; Pignatari, Shirley N

2012-02-15

Congenital choanal atresia is a rare abnormality characterized by unilateral or bilateral lack of patency of the posterior end of the nasal cavity. With an incidence of 1:5000 to 1:8000 births, it is twice as prevalent in females as it is in males. Surgical procedures aim to provide adequate functional choanal patency and a low rate of restenosis, avoid harm to any structure in development, enable shorter surgery and hospitalization times, and minimize morbidity and mortality. To evaluate the effectiveness and safety of the available surgical techniques for the treatment of congenital choanal atresia in patients with unilateral and bilateral atresia. We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; BIOSIS Previews; Cambridge Scientific Abstracts; ISRCTN and additional sources for published and unpublished trials. The date of the search was 31 January 2011. We planned to include parallel randomized or quasi-randomized controlled trials testing surgical approaches for the treatment of congenital atresia (irrespective of gender and age) that evaluated normal/adequate respiratory function (self reported or preserved nasal airway) and restenosis as the main primary outcomes. We did not consider reoperation and non-congenital atresia (e.g. traumatic, iatrogenic atresias) for inclusion. Three review authors independently assessed the titles and abstracts of the identified articles to determine potential relevance. For dichotomous and continuous variables, we planned to calculate risk ratios (relative risks; RR) and mean differences (MD) with 95% confidence intervals (CI), respectively. We planned to use the random-effects model since we were expecting substantial clinical and methodological heterogeneity. No randomized controlled trials were identified. From the 120 reports retrieved using our search strategy, 46 primary studies had the

Rare manifestations of sirenomelia syndrome: a report of five cases.

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Drossou-Agakidou, Vasiliki; Xatzisevastou-Loukidou, Chariklia; Soubasi, Vasiliki; Kostopoulou, Eyanthia; Laporda, Alexandra; Pantzaki, Afroditi; Agelidou, Stamatia; Kremenopoulos, Georgios

2004-10-01

Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusion of lower extremities (five of five), renal agenesis (three of five), polycystic renal dysplasia (two of five), anal atresia with large bowel hypoplasia (three of five), pulmonary hypoplasia (four of five), and single umbilical artery (five of five). Other features that have only rarely been associated with sirenomelia included concurrence of congenital heart disease and neuroblastoma, gallbladder agenesis, and upper extremity defects.

Giant melanocytic nevus with malignant melanoma: a rare disorder in a black African child.

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Katibi, Oludolapo Sherifat; Ogunbiyi, Adebola; Brown, Biobele Jotham; Adeyemi, Oyedeji Oladele

2014-10-01

Giant congenital melanocytic nevus (GCMN) is rare in babies of African descent. Unfortunately, it has an increased potential for malignant transformation. A 3-year-old female child presented with a 6-month history of multiple nodules on an existing giant congenital melanocytic nevus and swelling in the right axilla of four weeks duration. Skin biopsy of the nodular skin lesions was in keeping with a metastatic malignant melanoma (Clark stage 4). She completed a full course of chemotherapy but subsequently died four months after presentation. Patients with large GCMN should be counseled and followed up appropriately to improve and prolong life. © 2014 The International Society of Dermatology.

Nasal glial heterotopia or congenital hemangioma? A case report.

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Lartizien, R; Durand, C; Blaise, S; Morand, B

2017-10-01

Nasal glial heterotopia (NGH) is a rare benign tumor of the median line. We describe the case of a child presenting a lateral nasal mass. The characteristics of the prenatal ultrasound and the postnatal clinical examination argued in favor of a congenital hemangioma (CH). The MRI performed at 6 weeks of life suggested glial heterotopia. This diagnosis was confirmed by the pathological analysis. Congenital hemangiomas and nasal glial heterotopies have similar clinical presentations. Prenatal ultrasound diagnosis between NGH and CH is difficult. Fetal MRI is not yet highly specific for these two lesions, but it can eliminate an intracerebral connection in cases of NGH. Postnatal exams are more specific. Flow on the Doppler exam is rapid for CH and slow for NGH. On MRI, these two lesions appear as a hypersignal on T2-weighted sequences, but less intense for NGH than for CH. Distinguishing between NGH and CH can be difficult. This does not have a direct incidence on treatment because it is surgical in both cases. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Viral load in children with congenital cytomegalovirus infection identified on newborn hearing screening.

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Kawada, Jun-ichi; Torii, Yuka; Kawano, Yoshihiko; Suzuki, Michio; Kamiya, Yasuko; Kotani, Tomomi; Kikkawa, Fumitaka; Kimura, Hiroshi; Ito, Yoshinori

2015-04-01

Congenital cytomegalovirus (CMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL) in children. However, congenital SNHL without other clinical abnormalities is rarely diagnosed as CMV-related in early infancy. The aim of this study was to identify and treat patients with congenital CMV-related SNHL or CMV-related clinical abnormalities other than SNHL. The association between CMV load and SNHL was also evaluated. Newborns who had abnormal hearing screening results or other clinical abnormalities were screened for congenital CMV infection by PCR of saliva or urine specimens, and identified infected patients were treated with valganciclovir (VGCV) for 6 weeks. The CMV load of patients with or without SNHL was compared at regular intervals during as well as after VGCV treatment. Of 127 infants with abnormal hearing screening results, and 31 infants with other clinical abnormalities, CMV infection was identified in 6 and 3 infants, respectively. After VGCV treatment, 1 case had improved hearing but the other 5 SNHL cases had little or no improvement. Among these 9 patients with or without SNHL at 1 year of age, there was no significant difference in CMV blood or urine load at diagnosis, but both were significantly higher in patients with SNHL during VGCV treatment. Selective CMV screening of newborns having an abnormal hearing screening result would be a reasonable strategy for identification of symptomatic congenital CMV infection. Prolonged detection of CMV in blood could be a risk factor for SNHL. Copyright © 2015 Elsevier B.V. All rights reserved.

Congenital heart disease

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Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

Genetics Home Reference: congenital hypothyroidism

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... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

[Neonatal tumours and congenital malformations].

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Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Congenital absence of the nose: a case report and literature review

International Nuclear Information System (INIS)

Olsen, Oe.E.; Rosendahl, K.; Gjelland, K.; Reigstad, H.

2001-01-01

A case of congenital absence of the nose is presented. The etiology of this rare condition is unknown. A review of the literature reveals that the previously applied terms, e. g. 'arhinia', are unclear. In the reviewed cases there seems to be a pattern of facial anomalies associated with nasal absence. In most cases, one could probably expect a lack of the olfactory bulbs and tracts. We suggest a new terminology and summarize the aims of the radiological evaluation of this condition. (orig.)

Congenital heat disease

International Nuclear Information System (INIS)

Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

1990-01-01

The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

Congenital pulmonary airway malformation with mucoepidermoid carcinoma: A case report and review of literature

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Narayanappa Harini

2012-01-01

Full Text Available Congenital cystic adenomatoid malformations (CCAM are rare developmental anomalies of the lung characterized by cysts of varying sizes and/or adenomatoid proliferation. Type I CCAM, the most frequent subtype, is associated with an increased incidence of malignant transformation, principally bronchioloalveolar carcinoma, with a reported incidence of around 1%. We report the first case of mucoepidermoid carcinoma arising in a type 1 CCAM.

Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven(®)).

Science.gov (United States)

Bartosh, Nicole S; Tomlin, Tara; Cable, Christian; Halka, Kathleen

2013-01-01

This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding. A 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae. This case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of severe side effects.

Cleft palate caused by congenital teratoma.

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Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

2017-02-01

A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

Congenital high airway obstruction syndrome (CHAOS) associated with cervical myelomeningocele.

Science.gov (United States)

Adin, Mehmet Emin

2017-10-01

Congenital high airway obstruction syndrome (CHAOS) is a rare and potentially fatal entity resulting from complete or near complete developmental airway obstruction. Although most reported cases of CHAOS are sporadic, the condition may also be associated with certain syndromes and a variety of cervical masses. Meningocele and myelomeningocele have not yet been reported in association with CHAOS. We describe the typical constellation of sonographic findings in a case of early diagnosis of CHAOS associated with cervical myelomeningocele. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:507-510, 2017. © 2016 Wiley Periodicals, Inc.

Cerebral microcalcifications in a newborn with congenital tuberculosis.

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Cifuentes, Yolanda; Murcia, Martha Isabel; Piar, Jorge; Pardo, Patricia

2016-03-03

Tuberculosis is a serious public health problem worldwide. In 2012, the World Health Organization estimated 8.6 million new cases and 1.3 million deaths due to the disease. In 2011, the incidence in Colombia was 24 cases per 100,000 inhabitants. There is little information about tuberculosis in pregnant women, and congenital infection is considered a rare disease that is difficult to diagnose, leads to high mortality, and may be confused with tuberculosis acquired after birth. In addition, it has been associated with HIV infection in mothers and infants. Moreover, there is increasing incidence of congenital syphilis in the world. In Colombia, the prevalence is 2.5 cases per 1,000 births and its frequency in the Instituto Materno Infantil-Hospital La Victoria is one case per 57 births. We report the case of a newborn under treatment for congenital syphilis and in whom microcalcifications were found in a transfontanelar ultrasound. This finding warned about the existence of another infectious agent. PCR was negative for cytomegalovirus, and IgM titers for toxoplasma, rubella and herpes I and II were also negative. After learning about a history of incomplete treatment for tuberculosis in the mother, we suspected the presence of an infection by the tubercle bacillus in the newborn. No acid-fast bacilli were demonstrated in three gastric juice samples. The IS6110 PCR assay was found positive in cerebrospinal fluid and urine, but not in blood. The newborn was treated with crystalline penicillin for 10 days along with isoniazid, rifampicin, pyrazinamide and streptomycin. The patient is currently under clinical monitoring.

A Rare Case Report of Thoracic Ectopia Cordis: An Obstetrician’s Point of View in Multidisciplinary Approach

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Diana Ramasauskaite

2016-01-01

Full Text Available Ectopia cordis is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. It can be associated with other congenital abnormalities. Overall, the prognosis for infants with ectopia cordis is very poor but depends greatly on the type and severity of ectopia cordis and intracardiac and associated malformations. We present one case of a fetus with prenatally diagnosed thoracic ectopia cordis with intracardiac defects and omphalocele, all the abnormalities seen in pentalogy of Cantrell except a diaphragmatic defect. Considering poor prognosis for fetus, conservative management of prenatal care has been chosen. At the 42nd gestational week, during the active stage of labor, due to fetal distress, cesarean section was performed at a tertiary level hospital. The condition of the infant was impairing rapidly and the newborn succumbed within 24 hours. We discuss the perinatal care concerning this rare anomaly.

Congenital orbital teratoma.

Science.gov (United States)

Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

2013-12-01

We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

Congenital orbital teratoma

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Shereen Aiyub

2013-01-01

Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

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.

Cor triatriatum dexter: A rare cause of childhood cyanosis

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Ahmad Rustam bin Mohd Zainudin

2012-01-01

Full Text Available Cor triatriatum dexter is a rare congenital heart anomaly where the right atrium is divided into two chambers by a membrane. We report a boy who had persistent mild cyanosis and diagnosed to have cor triatriatum dexter with secundum atrial septal defect by transoesophageal echocardiography. Interestingly, he had persistent mild cyanosis despite insignificant obstruction to the right ventricular inflow and normal pulmonary artery pressure. The pathophysiology, approach to the diagnosis, and mode of treatment are also discussed.

A Rare Occurance with Epidermolysis Bullosa Disease: Dilated Cardiomyopathy

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Derya Cimen

2014-02-01

Full Text Available Epidermolysis bullosa is a congenital and herediter vesiculobullous disease. Dystrophic form of this disease is characterized by severe malnutrition, failure to thrive, adhesions at fingers, joint contractures related with the formation of scar tissues, carcinoma of the skin, anemia, hipoalbuminemia, wound enfections and sepsis. Rarely, mortal dilated cardiomyopathy may occur in patients. In this report we present a 13 year-old pediatric patient with dilated cardiomyopathy, clinically diagnosed with Epidermolysis bullosa as well as a review of recent related literature.

Traumatic pulmonary pseudocysts mimicking a congenital malformation of the lung

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Alexander Ngoo

2018-02-01

Full Text Available Traumatic Pulmonary Pseudocysts (TPPs are a rare consequence of thoracic trauma that is seen disproportionately in young adults and paediatric populations. In this case report, we detail a case of a TPP initially misdiagnosed on imaging as a Congenital Cystic Adenomatoid Malformation (CCAM. Conservative management and monitoring for resolution of TPP is highly effective as in most cases it self-resolves without issue or need for intervention. This contrasts with the surgical treatment often indicated for symptomatic CCAMs. Clearly, failure to recognize TPP as a rare but important differential of pulmonary cystic lesions in the context of trauma can lead to significant distress for the patient's family, over investigation and unnecessary or harmful interventions. We also review in this article the literature surrounding the radiological appearances, clinical features and management of both conditions.

Macrovaso retiniano congênito: relato de caso Congenital retinal macrovessel: case report

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Rodrigo Tavares Schueler

2005-06-01

Full Text Available O macrovaso retiniano congênito é rara anomalia vascular em que um vaso grande e suas tributárias cruzam a mácula. Descrevemos um caso de macrovaso retiniano em paciente com queixa de baixa acuidade visual.Congenital retinal macrovessel is a rare vascular anomaly in which a large vessel and its tributaries cross the macula. We describe a case of retinal macrovessel in a patient complaining of decrease in visual acuity.

Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

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Maria Francis Yuvaraj

2017-01-01

Full Text Available The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

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Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

2017-08-01

Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

Pediatric patient with systemic lupus erythematosus & congenital acquired immunodeficiency syndrome: An unusual case and a review of the literature

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Rezaee Fariba

2008-05-01

Full Text Available Abstract The coexistence of systemic lupus erythematosus (SLE in patients with congenital human immunodeficiency virus (HIV infection is rare. This is a case report of a child diagnosed with SLE at nine years of age. She initially did well on non-steroidal anti-inflammatory agents, hydroxychloroquine, and steroids. She then discontinued her anti-lupus medications and was lost to follow-up. At 13 years of age, her lupus symptoms had resolved and she presented with intermittent fevers, cachexia, myalgias, arthralgias, and respiratory symptoms. Through subsequent investigations, the patient was ultimately diagnosed with congenitally acquired immunodeficiency syndrome (AIDS.

Dolichoodontoid. A rare cranio-cervical anomaly--MRI findings

International Nuclear Information System (INIS)

Prokesch, Rupert W.; Chocholka, Peter; Bader, Till W.; Ba-Ssalamah, Ahmed; Trattnig, Siegfried

2000-01-01

The case of a 40-year-old woman with a dolichoodontoid, a rare congenital anomaly of the cranio-cervical region, is presented. Due to summation image and overlying bony structures, plain radiographs in two planes were inconclusive. MRI revealed the hyperplasia of the odontoid process, allowed a grading of the subtype of this disorder and demonstrated its relationship to the neural structures within the foramen magnum and the upper cervical spine. Additional inflammatory disease, suspected in this patient with long standing rheumatoid arthritis could be excluded by MRI

Congenital cytomegalovirus infection

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Katarina Rednak-Paradiž

2006-11-01

Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

Prevalence of congenital amusia.

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Peretz, Isabelle; Vuvan, Dominique T

2017-05-01

Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

Right Coronary Artery Originated from the Left Anterior Descending Artery in a Patient with Congenital Pulmonary Valvular Stenosis

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Yusuf Hoşoğlu

2013-01-01

Full Text Available The single coronary artery, anomalous origin of the right coronary artery from the left anterior descending artery, is a benign and very rare coronary artery anomaly. We firstly present a case with this type of single coronary artery and congenital pulmonary valvular stenosis with large poststenotic dilatation.

Congenital Leukemia in Down's syndrome

International Nuclear Information System (INIS)

Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

2006-01-01

Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

International Nuclear Information System (INIS)

Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

2014-01-01

There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

Congenital heart defects and extracardiac malformations.

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Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Congenital Heart Defects and CCHD

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... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

Limb defects associated with major congenital anomalies : Clinical and epidemiological study from the international clearinghouse for birth defects monitoring systems

NARCIS (Netherlands)

Rosano, A; Botto, LD; Olney, RS; Khoury, MJ; Ritvanen, A; Goujard, J; Stoll, C; Cocchi, G; Merlob, P; Mutchinick, O; Cornel, MC; Castilla, EE; Martinez-Frias, ML; Zampino, G; Erickson, JD; Mastroiacovo, P

2000-01-01

Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring, me pooled data from II birth defect registries that are part of the International Clearinghouse

Congenital amusias.

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Tillmann, B; Albouy, P; Caclin, A

2015-01-01

In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

WEISMANN-NETTER-STUHL SYNDROME: A RARE FORM OF SKELETAL DYSPLASIA

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Dr. Shalini Tripathi

2009-07-01

Full Text Available A case of Weismann-Netter-Stuhl syndrome was described because of its rare entity in pediatric age group. The clinical presentation was short stature with bowing of lower legs with characteristic radiological findings. It was differentiated from congenital syphilis and rickets by negative laboratory results and the characteristic radiographic features of anterior and medial bowing of the mid to distal third of the tibiae and fibulae and cortical hyperostosis of the concave margins.

Anesthetic management of a 2-day-old with complete congenital heart block

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Puneet Khanna

2014-01-01

Full Text Available Maternal connective tissue disorders such as Systemic Lupus Erythematosus (most common, Sjogren′s syndrome, mixed connective tissue disorders may lead to the rare condition of complete congenital heart block in the neonate. Rare fetal syndromes such as myocarditis, 18p syndrome, mucopolysaccharidoses and mitochondrial diseases are other causes. The mortality rate of this condition is inversely propotional to the age of presentation being 6 % in the neonatal age group. As the cardiac output in the neonate is heart rate dependent, it is crucial to maintain the heart rate in these patients. Pharamacological interventions with dopamine, isoprenaline, epinephrine and atropine are known for their variable response. Although permanent pacing is the most reliable mode of management, the access to it is often not readily available, especially in the developing countries. In such cases temporary pacing methods become lifesaving. Of all the modalities of temporary pacing (transcutaneous, transesophageal and transvenous transcutaneous pacing is the most readily available and immediate mode. In this case report we present a two day old neonate with isolated complete congenital heart block and a resting heart rate of 50-55/min in immediate need of palliative surgery for trachea-esophageal fistula (TEF. With pharmacological intervention the heart rate could only be raised to 75-80/min. The surgery was successfully carried out using transcutaneous pacing to maintain a heart rate of 100/min.

Dorfman-Chanarin syndrome: a rare neutral lipid storage disease.

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Mitra, Souvik; Samanta, Moumita; Sarkar, Mihir; Chatterjee, Sukanta

2010-01-01

Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide till February 2009 out of which 4 have been previously reported from India. We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination of the peripheral smear revealed lipid vacuoles in the leucocytes consistent with Jordan's anomaly, which was confirmed by transmission electron microscopy. Liver biopsy revealed micronodular cirrhosis with macrovesicular steatosis while skin biopsy showed ichthyosis vulgaris. Dorfman-Chanarin syndrome was diagnosed on the basis of clinical and laboratory criteria with certain unreported manifestations. Dietary modifications were instituted and followed up after 1 year with promising results. This emphasizes the importance of neonatal screening for lipid vacuolations in peripheral blood in all cases of congenital ichthyosis.

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

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Mitra Souvik

2010-10-01

Full Text Available Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide till February 2009 out of which 4 have been previously reported from India. We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination of the peripheral smear revealed lipid vacuoles in the leucocytes consistent with Jordan′s anomaly, which was confirmed by transmission electron microscopy. Liver biopsy revealed micronodular cirrhosis with macrovesicular steatosis while skin biopsy showed ichthyosis vulgaris. Dorfman-Chanarin syndrome was diagnosed on the basis of clinical and laboratory criteria with certain unreported manifestations. Dietary modifications were instituted and followed up after 1 year with promising results. This emphasizes the importance of neonatal screening for lipid vacuolations in peripheral blood in all cases of congenital ichthyosis.

[Congenital mucocele of the ventral face of the tongue].

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Nohuz, E; Gallot, D; Rousset, C; Brunel, A; Albaut, M; Bayeh, S; Vendittelli, F; Laurichesse-Delmas, H; Lemery, D

2016-03-01

Congenital cystic lesions of the oral cavity are an extremely rare occurrence. Their prenatal diagnosis is essential since they can impede respiratory and swallowing functions. We describe a case that was detected prenatally and discuss its management. A 21-year-old primigravida patient who was 23 weeks pregnant was referred to our obstetrics and gynecology center after fetal ultrasonography showed a cystic lesion of the oral cavity. She had no family history of any congenital anomalies. Ultrasonography showed a male fetus with an anechoic mass measuring 21×11 mm encompassing the entire oral cavity, evoking either a mucocele or a cystic hygroma. Magnetic resonance imaging (MRI) showed a fetus with a wide-open mouth, due to a well-demarcated protruding cystic mass with no solid component, suggestive of a mucocele. A prenatal sonographically guided percutaneous needle aspiration of mucous fluid was performed at 33 gestational weeks. Although the mucocele decreased significantly in size, it nevertheless continued to expand progressively. After an uncomplicated pregnancy, the patient had spontaneous onset of labor at 39 weeks of gestation. An iterative aspiration was performed in the same manner in utero, resulting in a complete collapse of the mucocele. If needed, intubation could be considered. A 3030-g male was born by vaginal delivery, without respiratory distress. Clinical examination showed the extremely opened mouth and confirmed the presence of a large cystic mass approximately 4 cm in diameter, of sublingual origin and encompassing the entire oral cavity. The continuous protrusion of the tongue was responsible for the infant's inability to close the mouth and be breastfed. After insertion of a feeding tube, the newborn had maxillofacial surgery consisting in marsupialization of the cyst at 2 days of age. The mucocele decreased in size and the postoperative course was uneventful. No recurrence was observed at 6 months' follow-up. Congenital mucoceles of the

Glial heterotopia of the orbit: a rare cause of proptosis.

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Bakhti, Souad; Terkmani, Fella; Tighilt, Nabila; Benmouma, Youcef; Boumehdi, Nazim; Djennas, Mohamed

2016-11-01

Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

Rare coagulation disorders: fibrinogen, factor VII and factor XIII.

Science.gov (United States)

de Moerloose, P; Schved, J-F; Nugent, D

2016-07-01

Rare coagulation disorders (RCDs) include the inherited deficiencies of fibrinogen, factor (F) II, FV, combined FV and VIII, FVII, FX, combined FVII and X, FXI, FXIII and combined congenital deficiency of vitamin K-dependent factors (VKCFDs). Despite their rarity, a deep comprehension of all these disorders is essential to really understand haemostasis. Indeed, even if they share some common features each RCD has some particularity which makes it unique. In this review, we focus on three disorders: fibrinogen, FVII and FXIII. © 2016 John Wiley & Sons Ltd.

Congenital malaria in China.

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Zhi-Yong Tao

2014-03-01

Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

Science.gov (United States)

Costain, Gregory; Merico, Daniele; Migita, Ohsuke; Liu, Ben; Yuen, Tracy; Rickaby, Jessica; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Scherer, Stephen W.; Bassett, Anne S.

2012-01-01

Structural genetic changes, especially copy number variants (CNVs), represent a major source of genetic variation contributing to human disease. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, but to date little is known about the role of CNVs in the etiology of TOF. Using high-resolution genome-wide microarrays and stringent calling methods, we investigated rare CNVs in a prospectively recruited cohort of 433 unrelated adults with TOF and/or pulmonary atresia at a single centre. We excluded those with recognized syndromes, including 22q11.2 deletion syndrome. We identified candidate genes for TOF based on converging evidence between rare CNVs that overlapped the same gene in unrelated individuals and from pathway analyses comparing rare CNVs in TOF cases to those in epidemiologic controls. Even after excluding the 53 (10.7%) subjects with 22q11.2 deletions, we found that adults with TOF had a greater burden of large rare genic CNVs compared to controls (8.82% vs. 4.33%, p = 0.0117). Six loci showed evidence for recurrence in TOF or related congenital heart disease, including typical 1q21.1 duplications in four (1.18%) of 340 Caucasian probands. The rare CNVs implicated novel candidate genes of interest for TOF, including PLXNA2, a gene involved in semaphorin signaling. Independent pathway analyses highlighted developmental processes as potential contributors to the pathogenesis of TOF. These results indicate that individually rare CNVs are collectively significant contributors to the genetic burden of TOF. Further, the data provide new evidence for dosage sensitive genes in PLXNA2-semaphorin signaling and related developmental processes in human cardiovascular development, consistent with previous animal models. PMID:22912587

Congenital insensitivity to pain and anhidrosis: A case report from South India

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Carounanidy Udayashankar

2012-01-01

Full Text Available Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia, mental retardation, and self-mutilating behavior. It is an extremely rare disorder with only a handful of reports from India. A five- year- old boy, born to second-degree consanguineous parents after uneventful antenatal period, presented to us with history of recurrent unexplained fever, recurrent ulcers in the lower limbs, insensitivity to painful stimuli (like injections, vaccination and self-mutilating behavior from early childhood. Cutaneous examination showed multiple ulcers, loss of teeth, loss of tip of the tongue (due to biting, scarring of finger tips, xerosis and lichenification. Sensory examination showed complete loss of pain and temperature sensations, but fine touch and vibration were preserved. Deep tendon reflexes were normal. Evaluation for Hansen′s disease was non-contributory. An intradermal injection of histamine did not show any flare response. Based on clinical as well as compatible histological features a diagnosis of congenital insensitivity to pain with anhidrosis was made. The ulcers were treated with appropriate antibiotics and daily dressings. The parents were counseled about appropriate care of the child.

[Congenital "kissing" lesions: Nevus or "café au lait" spot?

Science.gov (United States)

Durazzo, A; Boccara, O; Fraitag, S; Fusade, T; Picard, A; Kadlub, N

2016-12-01

"Café au lait" spots (CLS) are pigmented skin lesions principally located at the trunk and the limbs. Histologically, CLSs consist in an excessive pigmentation of the epidermis, with no risk of malignant transformation. The "kissing" nevus is a rare pigmented congenital nevus affecting both lower and upper eyelids in a mirror layout. As other nevi, it presents a theoretical risk of malignant transformation. These two pigmented lesions are responsible for aesthetic discomfort when affecting the face. Three patients presenting with a congenital pigmented lesion affecting the two eyelids in a mirror layout are presented. In two cases, the lesions, initially considered as "kissing" nevi, were classified as CLSs. The diagnosis of CLS was made on a biopsy in one patient and after surgery in the other one. Pigmented mirror layout lesions, called "kissing" lesions, are exclusively described for the nevi. We describe two cases of CLSs affecting the eyelids in a mirror layout. Difficulties in diagnostic are exposed and the possible treatments are discussed. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

[Identification of risk factors for congenital malformations].

Science.gov (United States)

Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

2014-11-01

The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

Clinical presentation and management of congenital ptosis

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Marenco M

2017-02-01

Full Text Available Marco Marenco,1,* Ilaria Macchi,2,* Iacopo Macchi,3 Emilio Galassi,4 Mina Massaro-Giordano,5 Alessandro Lambiase1 1Department of Sense Organs, University of Rome “Sapienza”, 2Department of Ophthalmology, Campus Bio-Medico University of Rome, Rome, 3Department of Ophthalmology, University of Catania, Catania, 4Ophthalmic Clinic, Department of Ophthalmology, University of L’Aquila, L’Aquila, Italy; 5Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA *These authors contributed equally to this work Abstract: Congenital ptosis is a rare condition characterized by lower positioning of the upper eyelid that is present at birth and is a clinical condition that is persistent if not treated. It may be unilateral or bilateral and may be associated with other ocular disorders or systemic conditions, including Marcus Gunn, Horner, and Duane syndromes. It is a benign condition but causes functional, cosmetic, and psychological problems in children. However, not all patients need to undergo surgery, and usually only patients at risk of amblyopia need a prompt surgical correction, while in other cases, surgery can be postponed. The grade of ptosis, the eyelid function, and the amblyopic risk are the parameters that affect the ophthalmologist’s decision on timing of surgery and the surgical technique to be used. In fact, there are several types of surgical techniques to correct a congenital ptosis, although very often more than one is needed to obtain an acceptable result. This paper reviews the causes of congenital ptosis and associated diseases. Particular emphasis is given to surgical management and different procedures available to correct the upper eyelid anomaly and avoid permanent damage to visual function. Keywords: ptosis, extraocular muscle development, neurologic dysfunction, surgical approach

Imaging of a rare disorder: macrodystrophia lipomatosa

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Farhana Ebrahim Suleman

2010-06-01

Full Text Available Macrodystrophia lipomatosa (MDL is described as a rare, non-hereditary, congenital condition presenting with localized macrodactyly and a proliferation of mesenchymal elements. There is in particular a marked increase in fibroadipose tissue(1. We describe two cases presenting to our department in a six month period, with a history of disproportionately large limbs since birth. While our first case demonstrated all the typical features of MDL, our second case failed to demonstrate osseous gigantism although the other features of MDL were present. An extensive search of the literature failed to yield any cases described without osseus gigantism but at the same time the other radiological features failed to fit in with any other related syndromes and the most appropriate diagnosis appears to be MDL. Thus we concluded that this may be a case of a rare, atypical MDL that was arrested or frustrated and therefore failed to demonstrate full expression of the syndrome.

Congenital Deficiency of Distal Ulna and Dislocation of the Radial Head Treated by Single Bone Forearm Procedure

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Paragjyoti Gogoi

2014-01-01

Full Text Available Congenital deficiency of part of distal ulna affecting the distal radio-ulnar joint is a rare disorder. It is even rarer to find the association of proximal radio-ulnar joint dislocation along with distal ulnar deficiency. This type of congenital forearm anomaly is difficult to treat. Conversion to a single bone forearm in the expense of pronation-supination movement is a viable option. By doing so the elbow and wrist can be stabilized; however movement is possible in only one plane. We are describing here a girl of 8 years having proximal radio-ulnar joint dislocation along with deficiency of distal ulna treated by converting into a single bone forearm.

Congenital platelet function defects

Science.gov (United States)

... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

Congenital central hypoventilation syndrome: diagnostic and management challenges

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Kasi AS

2016-08-01

Full Text Available Ajay S Kasi,1 Iris A Perez,1,2 Sheila S Kun,1 Thomas G Keens1,2 1Division of Pediatric Pulmonology and Sleep Medicine, Children’s Hospital Los Angeles, 2Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA Abstract: Congenital central hypoventilation syndrome (CCHS is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B gene. Affected patients have absent or negligible ventilatory sensitivity to hypercapnia and hypoxemia, and they do not exhibit signs of respiratory distress when challenged with hypercarbia or hypoxia. The diagnosis of CCHS must be confirmed with PHOX2B gene mutation. Generally, the PHOX2B mutation genotype can aid in anticipating the severity of the phenotype. They require ventilatory support for life. Home assisted ventilation options include positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, and diaphragm pacing via phrenic nerve stimulation, but each strategy has its associated limitations and challenges. Since all the clinical manifestations of CCHS may not manifest at birth, periodic monitoring and early intervention are necessary to prevent complications and improve outcome. Life-threatening arrhythmias can manifest at different ages and a normal cardiac monitoring study does not exclude future occurrences leading to the dilemma of timing and frequency of cardiac rhythm monitoring and treatment. Given the rare incidence of CCHS, most health care professionals are not experienced with managing CCHS patients, particularly those with diaphragm pacers. With early diagnosis and advances in home mechanical ventilation and monitoring strategies, many CCHS children are surviving into adulthood presenting new challenges in their care. Keywords: congenital central hypoventilation syndrome, PHOX2B, home mechanical ventilation, diaphragm

General Concepts in Adult Congenital Heart Disease.

Science.gov (United States)

Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

General Concepts in Adult Congenital Heart Disease

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Ferit Onur Mutluer

2018-02-01

Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

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Abdel-Aziz Mosaad

2012-06-01

Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

RE: Endovascular Treatment of Congenital Intrahepatic Portosystemic Shunts with Amplatzer Plugs

International Nuclear Information System (INIS)

Sierre, Sergio; Alonso, Jose; Lipsich, Jose

2012-01-01

In our paper entitled 'Endovascular treatment of congenital portal vein fistulas with the Amplatzer occlusion device' published in the Journal of Vascular and Interventional Radiology in 2004, we already reported the use of the AVP in the treatment of an intrahepatic portosystemic venous shunt. This situation does not undervalue the quality of the reported case, but for didactic purposes, we believe it is important to state that the work of Dr. Lee confirms, as was previously reported, that these devices are useful and safe for these rare situations.

RE: Endovascular Treatment of Congenital Intrahepatic Portosystemic Shunts with Amplatzer Plugs

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Sierre, Sergio; Alonso, Jose; Lipsich, Jose [Hospital Nacional de Pediatria ' JP Garrahan' , Combate de los Pozos, Buenos (Argentina)

2012-01-15

In our paper entitled 'Endovascular treatment of congenital portal vein fistulas with the Amplatzer occlusion device' published in the Journal of Vascular and Interventional Radiology in 2004, we already reported the use of the AVP in the treatment of an intrahepatic portosystemic venous shunt. This situation does not undervalue the quality of the reported case, but for didactic purposes, we believe it is important to state that the work of Dr. Lee confirms, as was previously reported, that these devices are useful and safe for these rare situations.

Lumbosacral arachnoid cyst with tethered cord: A rare case report

Directory of Open Access Journals (Sweden)

S K Jain

2012-01-01

Full Text Available Arachnoid cysts are cerebrospinal fluid collections in the spine that can present with neurological symptoms or be discovered accidentally. Intradural location of such cysts especially in the lumbosacral region is relatively rare. The association of such cysts with other congenital anomalies such as tethered cord lends evidence to the developmental origin of arachnoid cysts. We report a case of lumbosacral arachnoid cyst with tethered cord in a 6-year-old male child and discuss the etiopathogenesis and management options.

Congenital Heart Information Network

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... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

Balloon dilation of congenital supravalvular pulmonic stenosis in a dog.

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Treseder, Julia R; Jung, SeungWoo

2017-03-30

Percutaneous balloon valvuloplasty is considered the standard of care for treatment of valvular pulmonic stenosis, a common congenital defect in dogs. Supravalvular pulmonic stenosis is a rare form of pulmonic stenosis in dogs and standard treatment has not been established. Although, there have been reports of successful treatment of supravalvular pulmonic stenosis with surgical and stenting techniques, there have been no reports of balloon dilation to treat dogs with this condition. Here, a case of supravalvular pulmonic stenosis diagnosed echocardiographically and angiographically in which a significant reduction in pressure gradient was achieved with balloon dilation alone is presented.

Horizontal gaze palsy and progressive scoliosis in a patient with congenital esotropia and inability to abduct. A case report.

Science.gov (United States)

Fernández-Vega Cueto, A; Rodríguez-Ezcurra, J J; Rodríguez-Maiztegui, I

2016-12-01

The case is presented on a 4- year-old child with congenital esotropia, limitation of abduction, cross-fixation, and thoracolumbar scoliosis. Genetic testing of ROBO3 gene confirmed the diagnosis of horizontal gaze palsy and scoliosis (HGPSS) DISCUSSION: HGPPS is a rare congenital disorder characterised by absence of conjugate horizontal eye movements and progressive scoliosis developed in childhood and adolescence. We highlight this motility disorder as a part of the differential diagnosis of early childhood esotropia with cross- fixation and limitation of abduction. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Radiological features in congenital erythropoietic porphyria (Gunther's disease). Report of three cases

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Levesque, M.; Legmann, P.; Le Cloirec, A.; Deybach, J.C.; Nordmann, Y.

1988-01-01

Gunther's disease or congenital erythropoietic porphyria is a rare and severe disorder comprising cutaneous and haemolytic symptoms. Photocutaneous lesions are responsible for scleroderma-like calcifications and deformities of the extremities visible on X-rays. Hemolytic manifestations lead to diffuse major osteopenia. Soft tissue calcifications of the fingers can be seen even in young patients. One case reported here is the first illustration of intracranial calcifications located on dura-mater and calvarium.

Lumbar Disc Herniation in a Patient With Congenital Vertebral Body Anomaly: A Case Report

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Atabey, Cem; Topuz, Ali Kivanc; Velioğlu, Murat; Demircan, Mehmet Nusret

2014-01-01

Lumbar disc herniation is characterized with low back and leg pain resulting from the degenerated lumbar disc compressing the spinal nerve root. The etiology of degenerative spine is related to age, smoking, microtrauma, obesity, disorders of familial collagen structure, occupational and sports-related physical activity. However, disc herniations induced by congenital lumbar vertebral anomalies are rarely seen. Vertebral fusion defect is one of the causes of congenital anomalies. The pathogenesis of embryological corpus vertebral fusion anomaly is not fully known. In this paper, a 30-year-old patient who had the complaints of low back and right leg pain after falling from a height is presented. She had right L5-S1 disc herniation that had developed on the basis of S1 vertebra corpus fusion anomaly in Lumbar computed tomography. This case has been discussed in the light of literature based on evaluations of Lumbar Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). This case is unique in that it is the first case with development of lumbar disc herniation associated with S1 vertebral corpus fusion anomaly. Congenital malformations with unusual clinical presentation after trauma should be evaluated through advanced radiological imaging techniques. PMID:25620987

Genetics Home Reference: critical congenital heart disease

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... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

Congenital pleuroperitoneal hernia presenting as gastrothorax in five cavalier King Charles spaniel dogs.

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Rossanese, M; Pivetta, M; Pereira, N; Burrow, R

2018-04-30

Five cavalier King Charles spaniels were examined for acute onset of respiratory distress. Thoracic radiographs demonstrated diaphragmatic hernia and tension gastrothorax, visible as a distended stomach occupying the left caudal thoracic cavity. Exploratory midline coeliotomy confirmed congenital pleuroperitoneal diaphragmatic hernia with herniation and dilatation of the stomach. The hernia configuration was consistent in all cases, with a defect affecting the left diaphragmatic crus. Congenital pleuroperitoneal diaphragmatic hernia is a rare condition caused by a defect in the dorsolateral diaphragm. Defects of the left crus of the diaphragm could result in the herniation of the stomach into the thoracic cavity with possible subsequent tension gastrothorax. Cavalier King Charles spaniels may have a predisposition to this condition. Tension gastrothorax is an acute life-threatening consequence of gastric herniation through a diaphragmatic defect that must be promptly recognised and surgically treated. © 2018 British Small Animal Veterinary Association.

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

Imaging findings in congenital hepatic fibrosis

International Nuclear Information System (INIS)

Akhan, Okan; Karaosmanoglu, Ali Devrim; Ergen, Bilge

2007-01-01

Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue

Adult Congenital Heart Disease with Pregnancy

Science.gov (United States)

2018-01-01

The number of women with congenital heart disease (CHD) at risk of pregnancy is growing because over 90% of them are grown-up into adulthood. The outcome of pregnancy and delivery is favorable in most of them provided that functional class and systemic ventricular function are good. Women with CHD such as pulmonary hypertension (Eisenmenger syndrome), severe left ventricular outflow stenosis, cyanotic CHD, aortopathy, Fontan procedure and systemic right ventricle (complete transposition of the great arteries [TGA] after atrial switch, congenitally corrected TGA) carry a high-risk. Most frequent complications during pregnancy and delivery are heart failure, arrhythmias, bleeding or thrombosis, and rarely maternal death. Complications of fetus are prematurity, low birth weight, abortion, and stillbirth. Risk stratification of pregnancy and delivery relates to functional status of the patient and is lesion specific. Medication during pregnancy and post-delivery (breast feeding) is a big concern. Especially prescribing medication with teratogenicity should be avoidable. Adequate care during pregnancy, delivery, and the postpartum period requires a multidisciplinary team approach with cardiologists, obstetricians, anesthesiologists, neonatologists, nurses and other related disciplines. Caring for a baby is an important issue due to temporarily pregnancy-induced cardiac dysfunction, and therefore familial support is mandatory especially during peripartum and after delivery. Timely pre-pregnancy counseling should be offered to all women with CHD to prevent avoidable pregnancy-related risks. Successful pregnancy is feasible for most women with CHD at relatively low risk when appropriate counseling and optimal care are provided. PMID:29625509

Imaging findings in congenital hepatic fibrosis

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Akhan, Okan [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)]. E-mail: akhano@tr.net; Karaosmanoglu, Ali Devrim [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey); Ergen, Bilge [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)

2007-01-15

Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue.

Bilateral congenital deficiency of tibia: a case report.

Science.gov (United States)

Sharma, Vijai; Yadav, Ganesh; Gupta, Anil Kumar; Kumar, Dileep

2014-01-01

Tibial hemimelia/amelia is a rare congenital anomaly characterized by deficiency of the tibia with relatively intact fibula. They can be identified as an isolated disorder or as part of malformation syndromes. This presentation expands the spectrum of tibial hemimelia characterizing its great clinical and radiological variability. A five year old female child, born to unaffected and non-consanguineous parents, presented with deformity and shortening of both legs. There was no other structural anomaly except in both lower limbs. Radiological imaging showed absence of the tibia, angulation of fibula and tarsal coalition of right side. Femur was seen to be normal in both lower limbs while patella, tibia and talus were absent on left side along with 1st ray deficiency. Severe varus deformity was seen in both feet. The parents were not willing for corrective surgery, therefore extension prosthesis was devised. We report a case of tibial hemimelia as well as to suggest methods to manage and rehabilitate such patients. A congenital malformations surveillance and record system needs to be developed to identify the demographic parameters, etiology, risk factors and associations of all types of limb deficiencies. Need is felt of a classification system which includes broader spectrum of limb malformations.

Intracranial hemorrhage in congenital bleeding disorders.

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Tabibian, Shadi; Motlagh, Hoda; Naderi, Majid; Dorgalaleh, Akbar

2018-01-01

: Intracranial hemorrhage (ICH), as a life-threatening bleeding among all kinds of congenital bleeding disorders (CBDs), is a rare manifestation except in factor XIII (FXIII) deficiency, which is accompanied by ICH, early in life, in about one-third of patients. Most inherited platelet function disorders (IPFDs) are mild to moderate bleeding disorders that can never experience a severe bleeding as in ICH; however, Glanzmann's thrombasthenia, a common and severe inherited platelet function disorder, can lead to ICH and occasional death. This bleeding feature can also be observed in grey platelet syndrome, though less frequently than in Glanzmann's thrombasthenia. In hemophilia, intracerebral hemorrhage is affected by various risk factors one of which is the severity of the disease. The precise prevalence of ICH in these patients is not clear but an estimated incidence of 3.5-4% among newborns with hemophilia is largely ascertained. Although ICH is a rare phenomenon in CBDs, it can be experienced by every patient with severe hemophilia A and B, FXIII deficiency (FXIIID), FVIID, FXD, FVD, FIID, and afibrinogenemia. Upon observing the general signs and symptoms of ICH such as vomiting, seizure, unconsciousness, and headache, appropriate replacement therapies and cranial ultrasound scans must be done to decrease ICH-related morbidity and mortality.

Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

Directory of Open Access Journals (Sweden)

Rabah M. Shawky

2014-10-01

Full Text Available We report a 7 year old female child with the classical triad of Meier-Gorlin syndrome (MGS, (microtia, absent patella and short stature. She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.

Penile duplication and two anal openings; report of a very rare case.

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Bakheet, Mohamed Abdel Al M; Refaei, Mohammad

2012-03-01

Penile duplication (diphallus) is an extremely rare disorder. It is almost always associated with other malformations like double bladder, exstrophy of the cloacae, imperforate anus, duplication of the rectosigmoid and vertebral deformities. Meanwhile anal canal duplication, the most distal and least common duplication of the digestive tube and is a very rare congenital malformation. A 21 days old Egyptian neonate is reported with complete penile duplication and two scrotums with each one carrying two palpable testes. Both penises have normal shaft with normally located meatus. Clear urine voids from both meati spontaneously. The child had also a fold of redundant skin about 4×5 cm at the anal region in which two separate anal openings are present. In rectal examination we found two normal anuses passing stool spontaneously. Ascending (voiding) cystourethrography revealed two penises with two separate meatuses and one bladder from which the two urethras go out separately. Intravenous pyelogram (IVP) revealed two normal kidneys and ureters. Barium study revealed duplication of rectum and colon, otherwise normal GIT. In our review of the literature, we did not come across any other case of this variety of the penile duplication and congenital presence of two anuses. Unfortunately the patient expired before any surgical correction.

Transoral robotic surgery-assisted excision of a congenital cervical salivary duct fistula presenting as a branchial cleft fistula.

Science.gov (United States)

Rassekh, Christopher H; Kazahaya, Ken; Livolsi, Virginia A; Loevner, Laurie A; Cowan, Andy T; Weinstein, Gregory S

2016-02-01

Congenital cervical salivary duct fistulae are rare entities and can mimic branchial cleft fistulae. Ectopic salivary tissue associated with these pharyngocervical tracts may have malignant potential. We present a case report of a novel surgical approach and review of the literature. A 27-year-old man presented with complaint of drainage from the right side of his neck since early childhood. A tract was found from the posterior tonsillar pillar into the neck and ectopic salivary tissue was found along the tract. A congenital hearing loss was also present. Transoral robotic (TORS)-assisted surgery was used in the management of this patient and allowed excellent visualization of the pharyngeal component of the lesion and a minimally invasive approach. The patient did well with no recurrence. TORS was helpful for management of a congenital salivary fistula and may be helpful for branchial cleft fistulae. These lesions may be associated with the branchio-oto-renal (BOR) syndrome. © 2015 Wiley Periodicals, Inc.

Report of an unsual case of anophthalmia and craniofacial cleft in a newborn with Toxoplasma gondii congenital infection.

Science.gov (United States)

Arce-Estrada, Gabriel Emmanuel; Gómez-Toscano, Valeria; Cedillo-Peláez, Carlos; Sesman-Bernal, Ana Luisa; Bosch-Canto, Vanessa; Mayorga-Butrón, José Luis; Vargas-Villavicencio, José Antonio; Correa, Dolores

2017-07-03

We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. A two-month-old male had a twin in utero who disappeared between the 7 th and the 14 th week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood. CMV infection was also discarded by PCR and IgM negative results. Structures suggestive of T. gondii pseudocysts were observed in a biopsy taken during the first functional/esthetic surgery. We conclude that this is a rare case of anophthalmia combined with craniofacial cleft due to congenital toxoplasmosis, that must be considered by physicians. This has not been reported before.

Contribution of Electronic Medical Records to the Management of Rare Diseases

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Dominique Bremond-Gignac

2015-01-01

Full Text Available Purpose. Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients’ data with ophthalmology-specific EMR. Methods. Ophthalmology-specific EMR software (Softalmo software Corilus was used to acquire ophthalmological ocular consultation data from patients with five rare eye diseases. The rare eye diseases and data were selected and collected regarding expertise of eye center. Results. A total of 135,206 outpatient consultations were performed between 2011 and 2014 in our medical center specialized in rare eye diseases. The search software identified 29 congenital aniridia, 6 Axenfeld/Rieger syndrome, 11 BEPS, 3 Nanophthalmos, and 3 Rubinstein-Taybi syndrome. Discussion. EMR provides advantages for medical care. The use of ophthalmology-specific EMR is reliable and can contribute to a comprehensive ocular visual phenotype useful for clinical research. Conclusion. Routinely EMR acquired with specific software dedicated to ophthalmology provides sufficient detail for rare diseases. These software-collected data appear useful for creating patient cohorts and recording ocular examination, avoiding the time-consuming analysis of paper records and investigation, in a University Hospital linked to a National Reference Rare Center Disease.

Contribution of Electronic Medical Records to the Management of Rare Diseases.

Science.gov (United States)

Bremond-Gignac, Dominique; Lewandowski, Elisabeth; Copin, Henri

2015-01-01

Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR) in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients' data with ophthalmology-specific EMR. Ophthalmology-specific EMR software (Softalmo software Corilus) was used to acquire ophthalmological ocular consultation data from patients with five rare eye diseases. The rare eye diseases and data were selected and collected regarding expertise of eye center. A total of 135,206 outpatient consultations were performed between 2011 and 2014 in our medical center specialized in rare eye diseases. The search software identified 29 congenital aniridia, 6 Axenfeld/Rieger syndrome, 11 BEPS, 3 Nanophthalmos, and 3 Rubinstein-Taybi syndrome. EMR provides advantages for medical care. The use of ophthalmology-specific EMR is reliable and can contribute to a comprehensive ocular visual phenotype useful for clinical research. Routinely EMR acquired with specific software dedicated to ophthalmology provides sufficient detail for rare diseases. These software-collected data appear useful for creating patient cohorts and recording ocular examination, avoiding the time-consuming analysis of paper records and investigation, in a University Hospital linked to a National Reference Rare Center Disease.

Rectal Duplication Cyst: A Rare Cause of Rectal Prolapse in a Toddler.

Science.gov (United States)

Khushbakht, Samreen; ul Haq, Anwar

2015-12-01

Rectal duplication cysts are rare congenital anomalies. They constitute only 4% of the total gastrointestinal anomalies. They usually present in childhood. The common presenting symptoms are mass or pressure effects like constipation, tenesmus, urinary retention, local infection or bleeding due to presence of ectopic gastric mucosa. We are reporting a rare presenting symptom of rectal duplication cyst in a 4-year-old boy/toddler who presented with rectal prolapse. He also had bleeding per rectum. Rectal examination revealed a soft mass palpable in the posterior rectal wall. CT scan showed a cystic mass in the posterior wall of the rectum. It was excised trans-anally and the postoperative recovery was uneventful. Biopsy report showed rectal duplication cyst.

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

NARCIS (Netherlands)

Dill, P.; Schneider, J.; Weber, P.; Trachsel, D.; Tekin, M.; Jakobs, C.A.J.M.; Thony, B.; Blau, N.

2011-01-01

We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome). Both conditions are exceptionally rare autosomal recessive inherited diseases mapped to 11q13. Our patient was found to have novel

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

NARCIS (Netherlands)

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

2003-01-01

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

[Genetic aspects in congenital hypothyrodism].

Science.gov (United States)

Perone, Denise; Teixeira, Silvânia S; Clara, Sueli A; Santos, Daniela C dos; Nogueira, Célia R

2004-02-01

Congenital hypothyroidism (CH) affects between 1:3,000 and 1:4,000 newborns. Many genes are essential for normal development of the hypothalamus-pituitary-thyroid axis and hormone production, and are associated with CH. About 85% of primary hypothyroidism is called thyroid digenesis and evidence suggests that mutations in transcription factors (TTF2, TTF1, and PAX-8) and TSH receptor gene could be responsible for the disease. Genetic defects of hormone synthesis could be caused by mutations in the following genes: NIS (natrium-iodide symporter), pendrine, thyreoglobulin (TG), peroxidase (TPO). Recently, mutations in the THOX-2 gene have also been related to organification defects. Central hypothyroidism affects about 1:20,000 newborns and has been associated with mutations in pituitary transcriptional factors (POUIF1, PROP1, LHX3, and HESX1). The syndrome of resistance to thyroid hormone is rare, implies a hypothyroidism state for some tissues and is frequently associated with dominant autosomal mutations in the beta-receptor (TRss).

Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven®)

Science.gov (United States)

Bartosh, Nicole S; Tomlin, Tara; Cable, Christian; Halka, Kathleen

2013-01-01

This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding. Case report A 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae. Conclusion This case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of

Congenital coronary artery fistula

International Nuclear Information System (INIS)

Oh, Yeon Hee; Kim, Hong; Zeon, Seoc Kil; Suh, Soo Jhi

1986-01-01

Congenital coronary artery fistula (CCAF) is communication of a coronary artery or its main branch with one of the atria or ventricles, the coronary sinus, the superior vena cava, or the pulmonary artery. In Korean peoples, only 4 cases of the CCAF were reported as rare as worldwide and authors want to report another case of CCAF, confirmed by operation. 10-year-old girl shows a fistula between sinus node artery of the right coronary artery and right atrium on root aortogram with left-to-right shunt and Qp/Qs=1.58, in which simple ligation of the sinus node artery from right coronary artery was performed. All of the 5 Korean CCAF (4 were previously reported and 1 of authors) were originated from right coronary artery, and of which 4 were opening into right ventricle and 1 of authors were into right atrium. Associated cardiac anomaly was noted in only 1 case as single coronary artery. Ages were from 9 months of age to 10 years old and no adult left case were found. 3 were female and 2 were male patients.

Congenital methemoglobinemia misdiagnosed as polycythemia vera: Case report and review of literature

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Dina Sameh Soliman

2018-03-01

Full Text Available Methemoglobinemia is a rare overlooked differential diagnosis in patients presented with cyanosis and dyspnea unrelated to cardiopulmonary causes. Our patient is 29 year old Indian non-smoker male, his story started 6 months prior to presentation to our center when he had generalized fatigue and discoloration of hands. He presented with persistent polycythemia with elevated hemoglobin level. The patient was misdiagnosed in another center as polycythemia and treated with Imatinib. The diagnosis of PV was revisited and ruled out in view of negative JAK2, normal erythropoietin level and absence of features of panmyelosis. Clinical cyanosis and lowoxygen saturation in the presence of normal arterial oxygen tension was highly suggestive of methemoglobinemia. Arterial blood gas revealed a methemoglobin level of 38% (normal: 0-1.5%. Cytochrome B5 reductase (Methemoglobin reductase B was deficient at level of <2.6 U/g Hb (normal: 6.6-13.3, consistent with methemoglobin reductase (cytochrome b5 deficiency and hence the diagnosis of congenital methemoglobinemia was established. The role of Imatinib in provoking methemoglobinemia is questionable and association between Imatinib and methemoglobinemia never described before. In our case, there were no other offending drugs in aggravating the patients’ symptoms and cyanosis. The patient started on Vitamin C 500 mg once daily for which he responded well with less cyanosis and significant reduction of methemoglobin level. Congenital methemoglobinemia is a rare underreported hemoglobin disease and often clinically missed. Upon extensive review of English literature for cases of congenital methemoglobinemia due to deficiency of cytochrome b5 reductase, we found 23 cases diagnosed as type I (including the case reported here. 17 cases (~74% of type I and 6 cases (27% of type II. There is male predominance 73% versus 26% in females. Almost half of reported cases 12 cases (52% are Indian, 2 Japanese, 3 English, 2

Congenital nystagmus and negative electroretinography

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Roussi M

2011-04-01

Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

Ultrasound follow up of testicular adrenal rest tumors with congenital adrenal hyperplasia: Report of three cases

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Cho, Jeong Yeon; Kim, Dong Won; Yoon, Seong Kuk; Nam, Kyung Jin [Dept. of Radiology, Dong-A University Hospital, Busan (Korea, Republic of)

2014-12-15

While testicular adrenal rest tumor is generally a rare intratesticular tumor, it is frequent in patients with congenital adrenal hyperplasia. The tumors are diagnosed and followed up by ultrasound examination because these tumors are non-palpable and symptomless in most cases and always benign. Ultrasound imaging features change depending on how congenital adrenal hyperplasia is controlled. We herein report three cases of testicular adrenal rest tumors with different usual and unusual imaging findings and follow-up imaging. Patient 1 was a 14-year-old boy who presented with poor compliance to medication. Patient 2 and 3 were a 10-year-old and 13-year-old boy who presented with precocious puberty and short stature, respectively. Ultrasound examinations demonstrated oval hypoechoic masses and irregular speculated hyperechoic masses in the testes and different serial imaging findings.

Ultrasound follow up of testicular adrenal rest tumors with congenital adrenal hyperplasia: Report of three cases

International Nuclear Information System (INIS)

Cho, Jeong Yeon; Kim, Dong Won; Yoon, Seong Kuk; Nam, Kyung Jin

2014-01-01

While testicular adrenal rest tumor is generally a rare intratesticular tumor, it is frequent in patients with congenital adrenal hyperplasia. The tumors are diagnosed and followed up by ultrasound examination because these tumors are non-palpable and symptomless in most cases and always benign. Ultrasound imaging features change depending on how congenital adrenal hyperplasia is controlled. We herein report three cases of testicular adrenal rest tumors with different usual and unusual imaging findings and follow-up imaging. Patient 1 was a 14-year-old boy who presented with poor compliance to medication. Patient 2 and 3 were a 10-year-old and 13-year-old boy who presented with precocious puberty and short stature, respectively. Ultrasound examinations demonstrated oval hypoechoic masses and irregular speculated hyperechoic masses in the testes and different serial imaging findings

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

Science.gov (United States)

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.

Science.gov (United States)

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.

Congenital and perinatal cytomegalovirus infection

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Chun Soo Kim

2010-01-01

Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

Anoftalmia associada à catarata congênita: relato de caso Anophthalmia and congenital cataract: case report

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Alessandro Santana

2005-06-01

Full Text Available Apresentação de um caso de anoftalmia e catarata congênita associada a malformações sistêmicas. Paciente, 6 meses, do sexo masculino, com anoftalmia à esquerda e catarata congênita polar posterior à direita. Instituiu-se terapêutica cirúrgica por meio de aspiração do núcleo e córtex com pequena incisão sem implante de lente intra-ocular, e capsulorrexe posterior com vitrectomia. A associação entre anoftalmia e catarata congênita é condição rara em que o diagnóstico e tratamento precoces são fundamentais para adequada reabilitação do paciente.The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The association of anophthalmia and congenital cataract is rare. The early diagnosis and management in these cases is very important for the best visual rehabilitation.

Dental Management of Cornelia de Lange Syndrome: A Rare Case Report

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Sandhu, Meera; Nagpal, Mehak; Gulia, Shweta; Sachdev, Vinod

2015-01-01

Cornelia de Lange syndrome (CdLS) is a rare, multiple congenital defect often called as Amsterdam dwarfism. The physical phenotype of CdLS includes low birth body weight, short stature and facio-cranial dysmorphia. The diagnosis of the syndrome is based on clinical grounds as there is no biochemical or chromosomal markers for CDLS that makes its diagnosis more complicated. The purpose of this paper is to present a clinical report of a boy emphasizing the importance of multidisciplinary approa...