A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
November 2025
in “
Journal of Saidu Medical College Swat
”
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Studysummary In this case report, a 2.5-year-old boy with biotinidase deficiency, initially misdiagnosed due to overlapping symptoms, showed dramatic improvement in several clinical areas after starting biotin supplementation, but persistent sensorineural hearing loss underscored the importance of early diagnosis for preventing irreversible complications.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
