Volume 2

Number 1 January 2018

Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report

DOI: https://doi.org/10.70357/jdamc.2018.v0201.08

Beauty A A1 , Islam M S2 , Amin A A3 , Das B K4

Abstract

Biotinidase deficiency is an rare autosomal recessive disorder with a wide-spectrum of neurological, dermatological, andimmunological dysfunction. Identification of this disorder is important as it is easily treatable and the patients show dramaticresponse to therapy, besides the fact that it can prove fatal if not diagnosed. We report a case of two and half months old femalechild of biotinidase deficiency who presented with repeated attack of convulsion for 7 days, seborrheic dermatitis, alopecia andangular stomatitis for 15 days. Her perinatal period was uneventful and no consanguinity between parents. On admission shewas hypotonic, reflex exaggerated, plantar extensor. She had mild metabolic acidosis, CT Scan of brain shows mildgeneralized atrophy of brain with bifronto-parietal craniocortical subarachnoid collection, TMS-increased C5OHcarnitine andenzyme assay revealed profound biotinidase deficiency. Treatment with 02 mg daily biotin was started and rapid and goodcontrol over seizures was seen.

Keywords: Key words: Biotin, biotinidase


  1. Classified Child Specialist & Neurologist

    Combined Military Hospital, Dhaka Cantonment, Dhaka

  2. Classified Child Specialist

    Combined Military Hospital, Ghatail

  3. Classified Child Specialist

    Combined Military Hospital, Dhaka Cantonment, Dhaka

  4. Classified Child Specialist

    Combined Military Hospital, Jasshre

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Volume 2, Number 1 January 2018
Page: 39-41