RESEARCH: A boy with spastic paraplegia & shortness of breath (dyspnea)

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A boy with spastic paraparesis and dyspnea.

Kalkanoglu HS, Dursun A, Tokatli A, Coskun T,

Karasimav D, Topaloglu H.

Department of Pediatrics, Section of Nutrition and

Metabolism, Hacettepe University Faculty of Medicine,

Ankara, Turkey. skalkano@...

A 4 1/2-year-old boy with signs and symptoms of

spastic paraparesis and dyspnea is presented.

Biotinidase deficiency was considered and was

confirmed by both urine organic acid analysis and

biotinidase activity measurement. The child recovered

gradually on biotin therapy. Because other systemic

signs and symptoms of the disease might not be present

initially or might develop later, biotinidase

deficiency should be considered in the differential

diagnosis of a child presenting with acute or subacute

spastic paraparesis.

Source: J Child Neurol. 2004 May;19(5):397-8.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids=1\

5224716 & dopt=Abstract