Siddhartha Gogia | PubMed Health

PubMed2006

Albright's hereditary osteodystrophy.

Albright's hereditary osteodystrophy is a rare inherited metabolic disorder characterized by a typical phenotype. It may be associated with or without resistance to parathyroid hormone (pseudohypoparathyroidism). Both forms may co-exist in the same family. Pseudohypoparathyroidism Type 1 and Pseudo-pseudohypoparathyroidism occur as a consequence of reduced erythrocyte membrane coupled with Gs alpha activity. We report here the variable inheritance of hormone resistance in the presence of characteristic phenotype and reduced Gs alpha activity in the same family.

Child↗

PubMed2005

Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).

Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.

Brain↗

PubMedDate not supplied

Neurocysticercosis in children: clinical findings and response to albendazole therapy in a randomized, double-blind, placebo-controlled trial in newly diagnosed cases.

The clinical findings of neurocysticercosis, diagnosed primarily on the basis of computed tomography (CT), and response to albendazole therapy in a randomized, double-blind, placebo-controlled trial were studied in 72 newly diagnosed children aged 1.5-12 years admitted to hospital in New Delhi, India, during March to July 2000. The lesions by initial CT were mostly single with perilesional oedema, and were located in the parietal lobes. The most common clinical finding was partial seizure (79.2%). The outcome of the albendazole trial was assessed through changes in CT lesions and status of seizure after 6 months of follow-up; about 55% of the lesions had disappeared and about 80% of the children were seizure-free. The frequency of healing of CT lesions in the albendazole-treated group and placebo group was 54.2% and 55.2%, respectively, and the frequency of a seizure-free state in the albendazole-treated group and placebo group was 87.5% and 77.5%, respectively; the differences were not statistically significant. Changes in lesions by CT and the recurrence of seizures after 6 months of follow-up were not related to the number of lesions by initial CT and albendazole was not beneficial in neurocysticercosis in children with ring-enhancing lesions in CT.

Albendazole↗