Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report

August 2025 in “ Cureus ”

Alamelu Alagappan, Amit Kumar Satapathy, Suprava Naik, Biswajit Sahoo, Pradosh Kumar Sarangi, Manoj Kumar Nayak

congenital biotinidase deficiency alopecia biotin supplementation skin rash CBD biotin

TLDR Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.

Congenital biotinidase deficiency (CBD) is a rare metabolic disorder that can cause symptoms ranging from alopecia and skin rash to severe neurological issues. This case report discusses a six-year-old male with CBD who exhibited breathlessness, alopecia, and hearing loss. Neuroimaging showed typical features of CBD, including symmetric restricted diffusion in various brain regions. Early diagnosis and treatment with biotin supplementation led to a reversal of symptoms, highlighting the importance of prompt intervention in managing the disease.

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