Multiple carboxylase deficiency (late onset) due to deficiency of biotinidase.

Biotinidase is a ubiquitous mammalian cell enzyme occurring in liver, serum and kidney. It cleaves biotin from biocytin, which is a cofactor for biotin dependent enzymes, namely the human carboxylases. Biotinidase deficiency is associated with a wide spectrum of neurological, dermatological, immunological and ophthalmological abnormalities.

Satoyoshi syndrome.

Satoyoshi syndrome is a rare autoimmune disease characterized by alopecia, painful muscle spasms, diarrhea and secondary skeletal changes. We report a 11 year old girl presenting with the typical features of alopecia totalis, severe muscle spasm and skeletal deformities.

Spontaneous rupture of malarial spleen.

Spontaneous rupture of malarial spleen is uncommon even in highly endemic areas of malaria. We report an eight year old girl who presented with spontaneous splenic rupture following malaria. She recovered with conservative management.

Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas.

Nager acrofacial dysostosis comprises defects of cranio facial region and limbs (mostly upper) with variable associated anomalies. The cranio- facial complex is indistinguishable from the mandibulo facial dysostosis (Treacher Collins syndrome). About 80 cases have been described in the literature.

Attention deficit hyperactivity disorder.

Objective: To identify ADHD children, to show the prevalence of the disorder in the age group of 5-12 years and to study their socio-demographic variables, associated medical and co-morbid psychological problems.

Methods: This is a cross-sectional case study of ADHD children presenting to a child guidance clinic in a busy pediatric hospital over a one year period. The diagnosis of ADHD was based on DSM IV criteria.