Journal of Pediatric Neurology - Volume 7, issue 4
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Journal of Pediatric Neurology is an English multidisciplinary peer-reviewed medical journal publishing articles in the fields of child neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience.
Journal of Pediatric Neurology encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, letters to the editor and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines that work in the field of pediatric neurology.
Abstract: Intrathecal chemotherapy and systemic chemotherapy are used for both prophylaxis and treatment of central nervous system disease in hematologic malignancies. We presented two children with urinary retention due to neurotoxicity with two distinct drugs and reasons. The main presenting complaints were urinary retention and incontinence in both patients. Before the adverse clinical event, the patients had received vincristine intravenously and triple therapy with hydrocortisone, cytosine arabinoside, and methotrexate intrathecally. The clinical event…resolved, and vincristine and intrathecal chemotherapy were deleted from the patients subsequent therapy until recovery was achieved.
Abstract: Neural tube defects are developmental anomalies of the brain and spinal cord. They are typically diagnosed prenatally or shortly after birth. However, benign-appearing variants, such as an atretic meningocele, may go undiagnosed into adolescence or beyond. The authors report a rare case of atretic parietal cephalocele, a congenital anomaly of childhood that often goes misdiagnosed with poor prognosis. However, the prognosis largely depends on the presence or absence of associated anomalies.
Abstract: Two unrelated infants who presented with global developmental delay, coarse facial features, and cardiac valve involvement were evaluated. Presence of extensive Mongolian spots along with hepatosplenomegaly and cardiac valvular involvement helped to narrow down the diagnosis as beta-galactosidase deficiency. The parents could be offered prenatal diagnosis in future pregnancy.
Keywords: GM1 gangliosidosis, Mongolian spots, beta-galactosidase, prenatal study
Abstract: Marinesco-Sjögren syndrome is a rare syndromic disorder with distinctive features of cerebellar atrophy, developmental delay, congenital cataract and other associated features. It is an autosomal recessive disorder. Only 100-200 cases have been diagnosed worldwide until now. Only two previous reports could be found from India-one describing two cases and another report of three affected siblings. Here we describe a family with two affected siblings from Kolkata, India.
Abstract: The proximal migration of a ventriculoperitoneal (VP) shunt into the ventricles is an extremely rare complication of VP shunt surgery. Only few cases have been previously reported. We report a case of a 4-month-old girl who suffered a shunt malfunction due to complete migration of the shunt assembly, including the shunt chamber, in the dilated lateral ventricles. The migrated shunt was left in situ. A new VP shunt was performed on the opposite side. Child was…doing well in follow up. This case and the other reported cases are studied, and a possible causes and preventive measures are discussed.
Abstract: We report a preterm, small-for-gestational age, very low birth weight male neonate presenting at birth with generalized reddish blue papulonodular lesions (including palms and soles), anemia, thrombocytopenia, hepatosplenomegaly, interstitial pneumonitis, sensorineural deafness, atrial septal defect, and communicating hydrocephalus. A diagnosis of blueberry muffin rash in a child with congenital rubella syndrome and communicating hydrocephalus was made based on clinical and laboratory findings. The rash disappeared by 10th day of life.
Abstract: Joubert syndrome is a rare autosomal recessive disorder with malformations of brain stem and cerebellum, manifested by abnormal respiratory pattern, ocular abnormalities, ataxia and developmental retardation. "molar tooth sign", seen on brain magnetic resonance imaging illustrates the typical neuro-radiological appearance of this condition. In this report, we describe the familial occurrence of Joubert syndrome in two siblings with emphasis on the imaging features of this rare syndrome.