Joubert's syndrome and prenatal hydrocephalus

Pediatr Neurol. 1999 May;20(5):403-5. doi: 10.1016/s0887-8994(99)00008-9.

Abstract

Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricle. Prenatal hydrocephalus has been proposed as a possible etiology for the cerebellar abnormalities but has not previously been described in association with this syndrome. The authors report a patient with clinical and radiographic features consistent with Joubert's syndrome who presented with congenital hydrocephalus.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Brain / abnormalities*
  • Brain / pathology
  • Female
  • Humans
  • Hydrocephalus* / complications
  • Hydrocephalus* / diagnosis
  • Infant, Newborn
  • Prenatal Diagnosis*
  • Syndrome