Journal of Pediatric Neurology - Volume 4, issue 2

Authors: Sharma, Natwar | Viswanathan, Venkataraman | Gowrishankar, Kalpana

Article Type: Research Article

Abstract: Schwartz-Jampel syndrome, also known as chondrodystrophica myotonia or myotonic myopathy is a rare, autosomal recessive disorder resulting from a defect in chromosome 1p36.1. Around 50 cases have been reported in literature. We present a 3 years old female with Schwartz-Jampel syndrome to highlight the benign course of this disease in some children.

Keywords: Schwartz-Jampel syndrome, chondrodystrophic myotonia, myotonic myopathy

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 135-137, 2006

Authors: Teber, Serap | Unal, Ozlem | Deda, Gulhis | Fitoz, Suat | Uysal, Zumrut | Akar, Nejat

Article Type: Research Article

Abstract: Sinovenous thrombosis is very rare in the pediatric population especially beyond neonatal period. This condition can be related to various etiologies depending upon patient's age. In this case report, we present a child with sinovenous thrombosis secondary to Behçet's disease. This 15-year-old male was admitted to our hospital with headache after he was followed for uveitis and recurrent oral aphthous ulceration. Since the cerebrospinal fluid pressure was 58 cm H_2 O and there was no …lesion on cranial computed tomography and magnetic resonance imaging, he was first diagnosed as pseudotumor cerebri. In spite of acetazolamide therapy and intermittent lumber punctures, his symptoms and high cerebrospinal fluid pressure persisted. Three weeks later cranial computed tomography with contrast was performed again and thrombosis was seen in the transverse and sagittal sinuses. He was treated successfully with heparin and steroid therapy. Show more

Keywords: Behçet's disease, sinovenous thrombosis, pseudotumor cerebri

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 139-142, 2006

Authors: Masri, Amira | Hamamy, Hanan

Article Type: Research Article

Abstract: Canavan disease (CD) is a fatal, hereditary disorder of central nervous system development that has been linked to mutations in the gene for the enzyme aspartoacylase (ASPA) which leads to accumulation of N-acetyl aspartic acid (NAA) in the brain with resultant leukodystrophy. CD is most prevalent in people of Ashkenazi Jewish descent but has been observed in other ethnic groups. Patients have severe mental retardation, poor head control, macrocephaly, and seizures. We report a 3 months …old male infant, the sixth child of healthy consanguineous second cousins parents, presenting with poor visual fixation poor response to sounds, axial and peripheral hypotonia, severe head lag, and exaggerated deep tendon reflexes in the upper and lower limbs. Family history revealed that the proband had four brothers and one sister with severe global delay, poor visual fixation, poor response to sounds, spasticity, poor head control and large heads. Urinary organic acids showed high levels of NAA, and ASPA gene mutation analysis identified a rare mutation in exon 1 (G27 R). This is the first case of CD to be reported from Jordan. Organic acid screening in urine for all infants with global delay and macrocephaly could lead to the diagnosis of more cases of CD in Jordan with determination of the most prevalent gene mutation and the designation of the relevant screening test. Show more

Keywords: Canavan disease, leukodystrophy, macrocephaly

Citation: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 143-146, 2006