Neuroimaging Findings in Congenital Biotinidase Deficiency: A Case Report

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.