Neonatal case of classic maple syrup urine disease: Usefulness of 1H-MRS in early diagnosis

Takeshi Sato, Koji Muroya, Junko Hanakawa, Yumi Asakura, Noriko Aida, Moyoko Tomiyasu, Go Tajima, Tomonobu Hasegawa, Masanori Adachi

研究成果: Article査読

13 被引用数 (Scopus)

抄録

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 (1H-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. 1H-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 1H-MRS would be one of the earliest clues to the diagnosis of classic MSUD in the neonatal period, especially in metabolic crisis.

本文言語English
ページ(範囲)112-115
ページ数4
ジャーナルPediatrics International
56
1
DOI
出版ステータスPublished - 2014 2

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康

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