A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
November 2025
in “
Journal of Saidu Medical College Swat
”
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.
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