A case of maple syrup urine disease misdiagnosed as Tetanus neonatorum on admission

KÜLTÜRSAY N., KÜTÜKÇÜLER N., BÜYÜKGEBIZ B., KLEIJER W.

Pediatrics International, cilt.36, sa.3, ss.284-286, 1994 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 3
  • Basım Tarihi: 1994
  • Doi Numarası: 10.1111/j.1442-200x.1994.tb03181.x
  • Dergi Adı: Pediatrics International
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.284-286
  • Anahtar Kelimeler: Maple Syrup Urine Disease, Tetanus neonatorum
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

A case of Maple Syrup Urine Disease (MSUD) is presented with clinical signs and symptoms on admission resembling neonatal tetanus. Diagnosis had to be differentiated between MSUD and other metabolic disorders and neonatal infections (especially neonatal tetanus because of severe opisthotonos) and generalized seizures of the patient. Early diagnosis of the MSUD patient is very important for effective therapy and better long‐term prognosis as well as genetic counselling and prenatal diagnosis for future pregnancies. 1994 Japan Pediatric Society