Joubert syndrome: the clinical and radiological findings

J Pak Med Assoc. 2014 Jan;64(1):91-4.

Abstract

Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypotonia. Episodic hyperpnoea attacks were observed in one case. Facial dysmorphism was the most common additional systemic anomaly and four cases had additional opthalmic findings. Brain MRI examination revealed that all cases had molar tooth sign, bat-wing appearance and vermian cleft. The majority of cases also had vermian hypoplasia. Cerebellar folial disorganisation was observed in approxiamtely half of the cases. Three cases had corpus callosum anomaly and atretic occipital encephalocoele. No pathology was determined in other organs. This study aimed to evaluate the clinical and radiological findings of 9 patients diagnosed with Joubert syndrome.

MeSH terms

  • Abnormalities, Multiple
  • Cerebellar Diseases / complications
  • Cerebellar Diseases / diagnosis*
  • Cerebellar Diseases / diagnostic imaging
  • Cerebellar Diseases / pathology
  • Cerebellum / pathology
  • Child
  • Child, Preschool
  • Eye Abnormalities / complications
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / diagnostic imaging
  • Eye Abnormalities / pathology
  • Female
  • Humans
  • Intellectual Disability / etiology
  • Kidney Diseases, Cystic / complications
  • Kidney Diseases, Cystic / diagnosis*
  • Kidney Diseases, Cystic / diagnostic imaging
  • Kidney Diseases, Cystic / pathology
  • Magnetic Resonance Imaging
  • Male
  • Motor Skills
  • Radiography
  • Retina / abnormalities*
  • Retina / diagnostic imaging
  • Retina / pathology

Supplementary concepts

  • Agenesis of Cerebellar Vermis