Imaging studies in a unique familial dysmyelinating disorder

Karen W. Gripp, Robert A. Zimmerman, Zhiyue J. Wang, Lucy B. Rorke, Ann Christine Duhaime, Luis Schut, Patricia T. Molloy, Samuel H. Tucker, Elaine H. Zackai, Maximilian Muenke

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


We report the imaging findings in five patients with a unique dysmyelinating disorder. MR studies of these infants showed obstructive hydrocephalus caused by mass effect produced by an enlarged cerebellum. The wbite matter of an enlarged cerebrum and cerebellum showed delayed myelination. Proton spectroscopy showed normal N-acetylaspartate (NAA) levels. While the dysmyelinating disorder was clearly differentiated from Canavan disease by an absence of elevated NAA and differing histopathologic findings and autosomal-dominant inheritance pattern, there were similarities to this disease in the presentation and, to some extent, in the initial imaging findings.

Original languageEnglish (US)
Pages (from-to)1368-1372
Number of pages5
JournalAmerican Journal of Neuroradiology
Issue number7
StatePublished - 1998

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology


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