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Computed tomography in maple syrup urine disease.

Abstract：

:Maple Syrup Urine Disease (MSUD) is an inherited metabolic disorder characterized by a severe, usually lethal, neonatal course in the early stages with pseudotumor cerebri and pathologically documented increased cerebral water content. CT and MRI studies in MSUD are few and the data are overlapping. This study reports CT features before and after dietary treatment in three patients; two with classical MSUD and one with an intermediate variant of MSUD. At diagnosis, CT consistently showed evidence of abnormally high lucidity involving not only white matter, but also areas of grey matter, particularly the pallidum. Furthermore, these CT changes are present both in the acute phase of classical MSUD and in an intermediate variant of the disease. The observed abnormalities evolve favorably under dietary treatment, simultaneously with clinical and neurological improvement. It is concluded that the observed CT changes indicate a diagnosis of MSUD and are relevant findings in the neuroradiologic differential diagnosis in acutely ill newborns, in which a metabolic disease may be not immediately suspected.

journal_name

Eur J Radiol

journal_title

European journal of radiology

authors

Taccone A,Schiaffino MC,Cerone R,Fondelli MP,Romano C

doi

10.1016/0720-048x(92)90089-r

keywords:

subject

Has Abstract

pub_date

1992-05-01 00:00:00

pages

207-12

issue

3

eissn

0720-048X

issn

1872-7727

pii

0720-048X(92)90089-R

journal_volume

14

pub_type

杂志文章

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