Translated title of the contribution: US patterns in Maple Syrup Urine Disease

G. Fariello, C. Orazi, S. Malena, P. Schingo, E. Carnevale, A. Bartuli, C. Dionisi Vici, G. Sabetta

Research output: Contribution to journalArticle


Maple Syrup Urine Disease (MSUD) is a rare inborn error of branched chain aminoacids metabolism. In the classical form patients present in the first weeks of life with poor feeding, vomiting, lethargy, seizures and coma. There are some reports on CT and MR findings, showing diffuse symmetrical involvement of cerebral and deep cerebellar white matter, basal ganglia, especially of pallidi, thalami, brainstem and internal and external capsule. We performed cranial US in three newborns affected by MSUD and compared these findings with CT and MR imaging. Symmetrical increase of echogenicity of periventricular white matter, basal ganglia, mainly of pallidi, and thalami could easily be detected, while a correct assessment of brainstem and cerebellar involvement was not possible.

Translated title of the contributionUS patterns in Maple Syrup Urine Disease
Original languageItalian
Pages (from-to)263-264
Number of pages2
JournalRivista di Neuroradiologia
Issue number2
Publication statusPublished - 1994

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

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    Fariello, G., Orazi, C., Malena, S., Schingo, P., Carnevale, E., Bartuli, A., Dionisi Vici, C., & Sabetta, G. (1994). REPERTI US NELLA MALATTIA DELLE URINE A SCIROPPO D'ACERO. Rivista di Neuroradiologia, 7(2), 263-264.