title: A case of maple syrup urine disease misdiagnosed as tetanus neonatorum on admission.
abstract: 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.
authors.affiliation: Department of Pediatrics, Medical School, Ege University, Izmir, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Kültürsay
authors.forename: N
authors.initials: N
authors.lastname: Kütükçüler
authors.forename: B
authors.initials: B
authors.lastname: Büyükgebiz
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
mesh_terms: D000328:Adult; D000597:Amino Acids, Branched-Chain / Q000008:administration & dosage; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008375:Maple Syrup Urine Disease / Q000175:diagnosis* / Q000628:therapy; D011379:Prognosis; D013742:Tetanus / Q000175:diagnosis; D013831:Thiamine / Q000008:administration & dosage
chemical_list: D000597:Amino Acids, Branched-Chain; D013831:Thiamine