Early neuroradiologic evidence of degeneration in Menkes' disease

Pediatr Neurol. 1997 Oct;17(3):255-8. doi: 10.1016/s0887-8994(97)00092-1.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Hemorrhage / diagnosis*
  • Humans
  • Infant
  • Magnetic Resonance Imaging*
  • Male
  • Menkes Kinky Hair Syndrome / diagnosis*
  • Nerve Degeneration / diagnosis*
  • Tomography, X-Ray Computed*