Dr. Atul Kulkarni, M.D. (Paed)*, Dr. Shahnaz Khan, Resident**
Department of Paediatrics, Ashwini Sahakari Rugnalaya & Research Centre, Solapur. *, Department of Paediatrics, Ashwini Sahakari Rugnalaya & Research Centre, Solapur. **
First child, one and half month male, FTND, cried immediately after birth, born of 2nd degree consanguineous marriage, started getting convulsions, at tenth day of life. Many anti-convulsants were given, child did not respond. Clinically, child presented with baldness, absence of eyebrows, myoclonic seizures, drowsiness. Investigation was not done since the relatives were not affordable hence on clinical grounds we stared with biotin. Dramatic response was seen, convulsions stopped within 2 days and total hair brow growth occurred within 2 months. 2nd child also presented baldness and convulsion responded to biotin treatment.

Biotin deficiency - Early form: Multiple Carboxylase Deficiency, Holocarboxylase Deficiency Autosomal recessive. Gene Located on long arm of chromosome 21

Clinical Features: Tachypnea, vomiting, hypotonia, alopecia, erythematous rash, irritable, seizure, lethargy, coma, Immunodeficiency

Diagnosis: By enzyme assay in lymphocytes/fibroblast, Prenatal Diagnosis/by enzyme activity in cultured amniotic cells and measuring intermediate metabolites

Treatment: Biotin 10 mg/day orally
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