A boy with spastic paraparesis and dyspnea.
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.
Kalkanoğlu
H Serap
HS
Department of Pediatrics, Section of Nutrition and Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey. skalkano@hacettepe.edu.tr
Dursun
Ali
A
Tokatli
Ayşegül
A
Coşkun
Turgay
T
Karasimav
Defne
D
Topaloğlu
Haluk
H
D001710:Biotin / Q000627:therapeutic use; D028921:Biotinidase Deficiency / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D002675:Child, Preschool; D004417:Dyspnea / Q000209:etiology*; D006801:Humans; D008297:Male; D020336:Paraparesis, Spastic / Q000209:etiology*
D001710:Biotin