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Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report

Year: 2025

Type: article

Abstract: Congenital biotinidase deficiency (CBD) is an uncommon inborn error of metabolism (IEM) that frequently manifests in infancy. Clinical manifestations vary from alopecia rash to severe neurological features like hypotonia, seizures, and developmental delay. Typical imaging manifestations will have symmetric restricted diffusion in the corona radiata, perirolandic white matter, posterior limb of the internal capsule (PLIC), parieto-occipital grey matter, brainstem, middle cerebellar peduncle (MCP), and splenium of the corpus callosum. Early diagnosis is essential because early treatment may reduce or prevent the severity of this disease. Herein, we report a case of CBD presented with breathlessness, alopecia, and hearing loss with typical imaging features, reversed with biotin supplementation in a six-year-old male child.

Source: Cureus

DOI: 10.7759/cureus.90218

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

Institutions: All India Institute of Medical Sciences Bhubaneswar, All India Institute of Medical Sciences, Deoghar

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4413378873