Journal of Pediatric Neurology - Volume 6, issue 2
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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: Megalencephalic leukodystrophy with subcortical cysts is a rare, recently described condition. Infantile macrocephaly, initially normal development and gradual neurological deterioration and relative preservation of mental abilities predominate. Magnetic resonance imaging demonstrates an edematous brain with diffuse white-matter abnormalities and subcortical cysts. Megalencephalic leukodystrophy with subcortical cysts has been described as having a predilection for some communities. We report what is thought to be a sporadic case of two siblings of a consanguineous…marriage, not belonging to known susceptible communities, who presented with characteristic features.
Keywords: Megalencephalic leukodystrophy with subcortical cysts, magnetic resonance imaging
Abstract: A 14-year-old girl with a suprasellar mixed malignant germ cell tumor was treated with complete surgical resection, chemotherapy, and radiation therapy. We performed a literature search to explore the current treatment options and prognosis of such a diagnosis. In reviewing the literature on mixed germ cell tumors, it appears that platinum-based chemotherapy regimens combined with radiation therapy provide the best outcome in terms of survival rates. Although controversial and debated, initial therapy should include surgical…resection or a stereotactic biopsy when resection is not possible. By obtaining tissue for histopathology, one can tailor treatment plans accordingly and provide greater prognostic accuracy. In this case report, all three therapeutic modalities were used in the treatment of a mixed malignant germ cell tumor. Thus far, 20 months posttreatment, the patient is doing well and is neurologically intact, but diagnosis and treatment were relatively recent. Only time will tell the efficacy of this treatment plan.
Abstract: Growing skull fractures are rare complications of head injury, affecting almost exclusively young children. This disease is characterized by the progression of a skull fracture with an underlying dural tear, leading to large cranial vault defects and parenchymal porencephalic damages. This report on three cases with a radiological follow-up depicts the difficulty in the management of neglected cases. Three young patients (two months, two years and six years old) were managed for growing skull fracture in…our department since 2001. Even if the three patients were diagnosed early, the therapeutic management was complex because of a long delay due to several reasons. While a cranioplasty and dural repair were performed in all patients, one required a shunt procedure for a large leptomeningeal cyst associated with a unilateral hydrocephalus. The clinical and radiological features are reviewed, as well as pathophysiological hypotheses and therapeutic principles.
Keywords: Leptomeningeal cyst, growing skull fracture, head trauma, encephalomalacia, cranioplasty, head injury sequelae
Abstract: Primary intracranial primitive neuroectodermal tumors are rare malignant small cell embryonal neoplasms of neuroectodermal origin, accounting for approximately 2.5% of childhood brain tumors and 0.46% of those in adults. There are very few reported cases of extracranial metastases from these tumors. We report a very rare case of primary intracranial primitive neuroectodermal tumor with metastasis to the lungs.
Abstract: Loculated hydrocephalus (LH) is caused, most frequently, by meningitis or intraventricular hemorrhage. However, uniloculated hydrocephalus caused by neonatal intraventricular hemorrhage is uncommon. We report the case of an infant who developed LH associated with antenatal intraventricular hemorrhage during the neonatal period. LH was suspected by routine ultrasonographic examination at 38 weeks' of gestation. A computerized tomography scan on the 2nd day, after the child was born, confirmed dilatation of the right lateral…ventricle. Furthermore, magnetic resonance imaging examination on the 6th day suggested subependymal hemorrhage in right lateral ventricle. At 5 months' of age, the infant underwent endoscopic septum pellucidum perforation for an increase in ventriculomegaly and also the size of the head circumference. However, 2 months after surgery, a ventriculo-peritoneal shunt was placed because of reappearance of ventriculomegaly. Examination of the child, when she was 2 years old, showed improvement of ventriculomegaly and the child was making appropriate developmental progress.
Abstract: Inadequate exclusive breast-feed is associated with many complications in neonates, which sometimes become life threatening. Hypernatremia is one of the commonest complications, which in severe cases may be associated with recurrent seizures, sinus thrombosis, arterial thrombosis etc. However, intracranial hemorrhage is rarely seen. We present three neonates with severe hypernatremia secondary to inadequate exclusive breast-feed, two of whom developed intracranial hemorrhage during hospital stay with review of literature.
Abstract: A 10-year-old severely disabled Italian boy on long-term treatment with valproic acid presented with tubular proteinuria, generalized aminoaciduria, normoglycemic glucosuria, and phosphate wasting. Since no other explanation for these renal tubular abnormalities was found, the treatment with valproic acid was discontinued. The abnormalities resolved within 5 months after discontinuing this anticonvulsant. We recommend screening patients on long-term anticonvulsant therapy with valproate periodically for renal tubular dysfunction, either via urinalysis or via measurement…of urinary lactate/creatinine ratio, if clinical suspicion is high.
Abstract: We report a 3-year-old girl with characteristic clinical, electroencephalographic and neuroradiological features of Rett syndrome (RS) – an X-linked dominant, neurodevelopmental disorder caused by mutation in methyl-CpG binding protein 2 (MECP2) gene. It predominantly affects females and is one of the commonest causes of mental retardation in females. It is characterized by progressive loss of intellectual functioning, fine and gross motor skills and communicative abilities, deceleration of head growth, and the development…of stereotypic hand movements, occurring after a period of normal development. A 3-year-old girl was brought from our neighboring country with progressive loss of milestones. She had a normal development till one year of age when she gradually lost her motor milestones and started socially withdrawing from her surroundings. She also started excessive hand playing which were stereotypical and repetitive. She was microcephalic and had marked postural hypotonia. Her electroencephalography and magnetic resonance imaging showed the characteristic change associated with RS. These clinical features support the diagnosis of RS even though genetic analysis was not done. This is the first case report of RS from Pakistan.
Keywords: Rett syndrome, stereotypic hand movements