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.

Granulocyte Colony-stimulating Factor for Preterms with Sepsis and Neutropenia: A Randomized Controlled Trial.

Background: Bacterial sepsis is one of the major causes of mortality in newborn infants. Mortality increases when sepsis is associated with neutropenia.

Materials And Methods: We conducted a prospective, randomized, double-blind, placebo-controlled trial of recombinant human granulocyte colony-stimulating factor on preterm neonates (gestational age (GA) <34 weeks) with sepsis and absolute neutrophil count (ANC) of <1500 cells/mm(3).

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.

Joubert syndrome: a major brain malformation.

Joubert syndrome is a rare genetic disorder characterised by dysplasia of the cerebellar vermis and a malformed brainstem causing ataxia, tachypnoea, nystagmus, hypotonia and mental retardation. An early case of a two-month-old infant presenting with the symptoms mentioned above with the diagnosis of Joubert syndrome is presented here. MRI revealed characteristic "molar tooth" appearance of superior cerebellar peduncles.