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A case of maple syrup urine disease misdiagnosed as Tetanus neonatorum on admission
Author(s) -
KÜLTÜRSAY N.,
KÜTÜKÇÜLER N.,
BÜYÜKGEBIZ B.,
KLEIJER WJ
Publication year - 1994
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1994.tb03181.x
Subject(s) - maple syrup urine disease , medicine , tetanus , pediatrics , urine , disease , intensive care medicine , immunology , biochemistry , chemistry , leucine , amino acid , vaccination
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.