Title: A Rare Case of Biotinidase Deficiency
Authors: Dr Sunil Kumar Agarwalla, Dr Soumya Ranjan Samal, Dr Rajesh Kumar Rout, Swastikranjan Jena
DOI: https://dx.doi.org/10.18535/jmscr/v9i8.21
Abstract
Biotinidase is an autosomal recessive disorder caused due to deficiency of enzyme Biotinidase. Most of the patients presented in infancy with neurodevelopmental regression, hypotonia, alopecia, dermatological and neurological manifestations. The clinical response to biotin is dramatic with seizure control in all most all patients .Biotinidase deficiency is a treatable condition, should be thought of any child presenting with neuro-regression , seizure and with dermatological manifestations such as alopecia and skin rashes.
Here we are present a 11 month old male infant who presented to the paediatrics emergency with multifocal seizure , neuro – regression , who on examination found to have alopecia and loss of eye brow and eye lashes without any neuro-cutanous manifestation . This on investigation found out to be Biotinidase deficiency. We are reporting this case because of its rarity where strong clinical suspicion and investigation tools helped in timely diagnosis and intervention.
Keywords: Biotinidse deficiency, Seizure, Alopecia, Infancy.
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