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Journal of Child Neurology
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A Boy With Spastic Paraparesis and Dyspnea

H. Serap Kalkanoglu

Department of Pediatrics Section of Nutrition and Metabolism Hacettepe University Faculty of Medicine Ankara, Turkey

Ali Dursun

Department of Pediatrics Section of Nutrition and Metabolism Hacettepe University Faculty of Medicine Ankara, Turkey

Aysegül Tokatli

Department of Pediatrics Section of Nutrition and Metabolism Hacettepe University Faculty of Medicine Ankara, Turkey

Turgay Coskun

Department of Pediatrics Section of Nutrition and Metabolism Hacettepe University Faculty of Medicine Ankara, Turkey

Defne Karasimav

Department of Pediatrics Hacettepe University Faculty of Medicine Ankara, Turkey

Haluk Topaloglu

Department of Pediatrics Section of Child Neurology Hecettepe University Faculty of Medicine Ankara, Turkey

A 41/2-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. (J Child Neurol 2004; 19:397-398).

Journal of Child Neurology, Vol. 19, No. 5, 397-398 (2004)
DOI: 10.1177/088307380401900517
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This article has been cited by other articles:


Home page
 J Child NeurolHome page
A. K. Chedrawi, A. Ali, Z. N. Al Hassnan, M. Faiyaz-Ul-Haque, and B. Wolf
Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease
J Child Neurol, September 1, 2008; 23(9): 1043 - 1048.
[Abstract] [PDF]