A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler

Biotinidase deficiency, a rare metabolic disorder, can mimic conditions like acrodermatitis enteropathica, complicating diagnosis, especially in low-resource settings. This case study of a 2.5-year-old boy initially misdiagnosed with acrodermatitis enteropathica, presented with symptoms including alopecia, seizures, and developmental delay. Laboratory tests confirmed biotinidase deficiency, and treatment with oral biotin led to significant improvements in skin, hair, and neurological symptoms within a month, although hearing loss persisted. The case underscores the importance of early diagnosis and treatment to prevent irreversible complications.