A Rare Case of Biotinidase Deficiency

Biotinidase deficiency is a rare autosomal recessive disorder characterized by symptoms such as neurodevelopmental regression, hypotonia, alopecia, and dermatological and neurological issues. The condition responds well to biotin treatment, which can control seizures. This document reports on an 11-month-old male infant who presented with multifocal seizures, neuroregression, and alopecia, including loss of eyebrows and eyelashes, but without neuro-cutaneous manifestations. The infant was diagnosed with biotinidase deficiency, highlighting the importance of clinical suspicion and investigative procedures for timely diagnosis and treatment.