A boy with spastic paraparesis and Dyspnea

Kalkanoglu H., DURSUN A., Tokatli A., Coskun T., Karasimav D., Topaloglu H.

JOURNAL OF CHILD NEUROLOGY, cilt.19, sa.5, ss.397-398, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 5
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1177/088307380401900517
  • Dergi Adı: JOURNAL OF CHILD NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.397-398
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.