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
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    Studysummary This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation. Our plain-language summary of this paper — not a Tressless recommendation.
    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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