Atypical Presentation of Biotinidase Deficiency in An Iraqi Child with A Biotinidase Deficiency Mutation, A Case Report
Basma Adel Ibrahim*1 and Hula R. Shreef2
1Pediatric Neurologist, Department of Pediatrics, Collage of Medicine, Al-Mustansiriyah university /Central Teaching Hospital of Pediatrics, Baghdad, Iraq.
2Consultant pediatric neurologist, Children Welfare Teaching Hospital/Medical City, Baghdad, Iraq.
*Corresponding Author: Dr. Basma Adel Ibrahim, Pediatric Neurologist, Department of Pediatrics, Collage of Medicine, Al Mustansiriyah university /Central Teaching Hospital of Pediatrics, Baghdad, Iraq.
Received: October 08, 2022 Published: November 03, 2022
Abstract
Background: This article reviewed the clinical features of a patient diagnosed with Biotinidase deficiency and his genetics test result.
Case presentation: The child presented with mild paroxysmal attacks of head dropping initially relieved by sleep then deteriorated gradually in form of ataxia, abnormal behavior, hallucination, loss of ability to walk, and finally lost consciousness. The child was diagnosed with biotinidase deficiency depending on abnormal brain imaging and genetic mutation of "c.175C>T; p; Arg59 Cys", a homozygous pathogenic variant.
Conclusion: As biotinidase deficiency has variable and atypical symptoms of presentation, children presented with paroxysmal attacks of discoordination, hallucination, and developmental regression with brain image finding similar to those of Leigh or thiamine deficiency should be tested for biotinidase deficiency, and a biotin trial should be given especially in areas lacking newborn screening programs for biotinidase deficiency.
Keywords: biotinidase deficiency, ataxia, head dropping, hallucination, genetic mutation.
Citation: Ibrahim BA, Shreef HR. “Atypical Presentation of Biotinidase Deficiency in An Iraqi Child with A Biotinidase Deficiency Mutation, A Case Report”. SVOA Neurology 2022, 3:6, 231-235.
