Aplasia of the cerebellar vermis associated with chronic renal disease. A report of six cases and a review of the literature

Eur J Pediatr. 1996 Nov;155(11):963-7. doi: 10.1007/BF02282888.

Abstract

We report six patients with aplasia or hypoplasia of the cerebellar vermis with early symptoms consisting of psychomotor retardation, nystagmus and severely reduced visual acuity due to congenital amaurosis. At age 5.6-12.1 years, five of these patients developed symptoms of chronic renal failure due to renal maldevelopment.

Conclusion: Children presenting with vermis aplasia should be monitored for associated disorders, especially renal disease.

Publication types

  • Review

MeSH terms

  • Blindness / etiology
  • Cerebellum / abnormalities*
  • Child
  • Child, Preschool
  • Humans
  • Intellectual Disability / complications
  • Kidney Failure, Chronic / complications
  • Kidney Failure, Chronic / etiology*
  • Nystagmus, Pathologic / etiology
  • Psychomotor Disorders / etiology
  • Syndrome