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Joubert Syndrome

Synonyms: Joubert-Boltshauser syndrome; cerebelloparenchymal disorder IV; familial cerebellar vermis agenesis; cerebellooculorenal syndrome1.

  • A rare familial syndrome characterised by partial or complete absence of the cerebellar vermis leading to episodic tachypnoea, neonatal apnoea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap.
  • Transmitted as an autosomal recessive trait (genetic heterogeneity - chromosome 9 is a possible candidate2). Mutations in two genes (AHI1 and NPHP1) have been identified3.
Presentation

Onset is in early infancy with abnormally rapid breathing, jerky eye movements, mental retardation, hemifacial spasms, seizures and ataxia.

  • Eyes: abnormal eye movements, chorioretinal coloboma, ptosis, and retinal dysplasia.
  • Mouth: tongue tumours and protrusion.
  • Hand and foot: polydactyly.
  • Neurological: hypotonia; hypoplasia or aplasia of the cerebellar vermis; occasional occipital meningoencephalocoele; hemifacial spasms and ataxia.
  • Gastrointestinal: duodenal atresia or fibrosis
  • Renal: cystic kidneys.
  • Mental and motor retardation.
  • Behavioural problems: self-mutilation.
  • Neonatal apneoa followed by episodic hyperpnoea which may improve and subsequently disappear.
Investigations
    The diagnosis of Joubert syndrome is confirmed with MRI, which shows classic neuroradiological findings ('molar tooth sign')4.
  • MRI findings include dilated cisterna magna, occipital meningoencephalocele, Dandy-Walker malformation, hypoplasia of the corpus callosum, retrobulbar cystic mass.
  • Abdominal ultrasound may show cystic kidneys.
  • Genetic testing is not currently available but the physical abnormalities may be detected at antenatal ultrasound. A fetal MRI scan at between 20 and 22 weeks gestation has been shown to be an effective method of antenatal diagnosis5.
Differential diagnosis

Other autosomal recessive ataxias, e.g. Friedreich ataxia, ataxia-telangiectasia6.

Associated disorders

Leber amaurosis (blindness with normal optic fundi and brain and kidney abnormalities) may be associated.

Management
  • Treatment is symptomatic and supportive and will include physiotherapy, occupational and speech therapy.
  • The parents will need a great deal of support.
Prognosis
  • Depends on the degree of malformation or agenesis of the cerebellar vermis.
  • Some will have a mild form with mild physical disability and good mental development.
  • In others, there may be severe physical disability, moderate mental retardation and death in infancy or early childhood.

Document References
  1. Joubert M, Eisenring JJ, Robb JP, et al; Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.; Neurology. 1969 Sep;19(9):813-25.
  2. OMIM;; Joubert Syndrome
  3. Louie CM, Gleeson JG; Genetic basis of Joubert syndrome and related disorders of cerebellar development.; Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R235-42. [abstract]
  4. Merritt L; Recognition of the clinical signs and symptoms of Joubert syndrome.; Adv Neonatal Care. 2003 Aug;3(4):178-86; quiz 187-8. [abstract]
  5. Doherty D, Glass IA, Siebert JR, et al; Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.; Prenat Diagn. 2005 Jun;25(6):442-7. [abstract]
  6. Espinos-Armero C, Gonzalez-Cabo P, Palau-Martinez F; [Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]; Rev Neurol. 2005 Oct 1-15;41(7):409-22. [abstract]
Internet and Further Reading Acknowledgements EMIS is grateful to Dr Colin Tidy for writing this article. The final copy has passed scrutiny by the independent Mentor GP reviewing team. ©EMIS 2007.
DocID: 1279
Document Version: 20
DocRef: bgp1737
Last Updated: 25 Sep 2006
Review Date: 24 Sep 2008










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