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CASE REPORTS
JOURNAL ARTICLE
Complete biotinidase deficiency presenting as reversible progressive ataxia and sensorineural deafness.
Journal of Child Neurology 2002 Februrary
Most symptomatic patients with biotinidase deficiency have both neurologic and cutaneous symptoms and typical organic aciduria. We encountered a previously healthy girl with complete biotinidase deficiency presenting initially at age 17 months with episodic ataxia that became severe progressive ataxia in 2 months, but without skin rash or typical organic aciduria, which resolved completely with biotin treatment. Additionally, moderate sensorineural deafness also improved to the normal range. Even without typical cutaneous findings or organic aciduria, biotinidase deficiency should be considered among the differential diagnosis in any child presenting with either episodic or progressive ataxia or sensorineural deafness as prompt diagnosis and treatment with biotin may induce an excellent recovery.
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