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Neonatal case of classic maple syrup urine disease: Usefulness of1H-MRS in early diagnosis
- Source :
- Pediatrics International. 56:112-115
- Publication Year :
- 2014
- Publisher :
- Wiley, 2014.
-
Abstract
- We describe a male neonate with classic maple syrup urine disease (MSUD) in metabolic crisis. On day 7 of life, he was referred to hospital because of coma and metabolic acidosis with maple syrup odor. On day 4 after admission, brain magnetic resonance imaging findings were consistent with encephalopathy due to MSUD. Proton magnetic resonance spectroscopy ((1) H-MRS) showed a large methyl resonance peak at 0.9 p.p.m. The diagnosis of MSUD was confirmed on low branched-chain α-keto acid dehydrogenase complex activity in lymphocyte. (1) H-MR spectra were obtained in 10 min, while it took at least several days to obtain the results of other diagnostic examinations. In convalescence, the peak at 0.9 p.p.m. decreased. The large methyl resonance peak at 0.9 p.p.m. in brain (1) H-MRS would be one of the earliest clues to the diagnosis of classic MSUD in the neonatal period, especially in metabolic crisis.
- Subjects :
- Coma
congenital, hereditary, and neonatal diseases and abnormalities
Pediatrics
medicine.medical_specialty
Maple syrup
business.industry
Convalescence
media_common.quotation_subject
Encephalopathy
Classical maple syrup urine disease
nutritional and metabolic diseases
Metabolic acidosis
medicine.disease
food.food
food
Pediatrics, Perinatology and Child Health
medicine
Brain magnetic resonance imaging
medicine.symptom
Dehydrogenase complex
business
media_common
Subjects
Details
- ISSN :
- 13288067
- Volume :
- 56
- Database :
- OpenAIRE
- Journal :
- Pediatrics International
- Accession number :
- edsair.doi...........b8b8aabb062ccbbd82065b3b6b0fe649