Early neuroradiologic evidence of degeneration in Menkes' disease

Thomas J. Geller, Yi Pan, David S. Martin

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


We report the case of an infant with Menkes' disease who presented with moderately abnormal neurologic findings at birth and with extraaxial bleeding in the posterior fossa. Early cerebellar atrophy and hypomyelination were evident on magnetic resonance imaging at 5 weeks of age. We suggest that neurodegeneration occurs earlier than has been previously reported and may be identifiable even in neonates.

Original languageEnglish (US)
Pages (from-to)255-258
Number of pages4
JournalPediatric Neurology
Issue number3
StatePublished - Oct 1997
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology


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