Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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June 27, 2016
Joubert Syndrome-Related Disorders (JSRD)
- Background:
- Forms of ciliopathy: mutation in genes for primary cilium, a subcellular organelle important for development and cellular function
- Cephalocele, renal cystic dysplasia, polydactyly
- Autosomal recessive inheritance
- Estimated prevalence in the US is 1/100,000
- Forms of ciliopathy: mutation in genes for primary cilium, a subcellular organelle important for development and cellular function
- Specifically Described Syndromes Include:
- COACH syndrome:Coloboma, Oligophrenia (developmental delay), Ataxia, Cerebellar vermis hypoplasia, Hepatic fibrosis
- Cerebello-oculo-renal syndrome: Ocular coloboma, retinal dystrophy, renal disease
- Clinical Presentation:
- Hypotonia, irregular neonatal breathing, facial dysmorphism and intellectual impairment
- Key Diagnostic Features:
- Characteristic “molar tooth” midbrain configuration: Thickened and elongated superior cerebellar peduncles and deepening of the interpeduncular fossa
- Hypoplasia of the cerebellar vermis
- Midline cleft (from vermis malformation) and anterior convexity of the 4th ventricular floor are also seen.
- Differential Diagnoses:
- Often confused with Dandy-Walker malformation and cerebral palsy, but the "molar tooth" configuration is not seen with either of these broad diagnostic categories.
- Treatment:
- Genetic counseling, physical and occupational therapy