Summary
A characteristic malformation of the cerebellum, including dysgenesis of the vermis and enlargement of the fourth ventricle was observed on computed tomography (CT) in 16 children on review of our consecutive material. Seven of these children underwent magnetic resonance imaging (MRI) which showed hypoplasia of the brainstem in addition to cerebellar vermian dysgenesis. One child had, in addition, dysgenesis of the corpus callosum. All these children were developmentally delayed, and many had neonatal breathing abnormalities, congenital retinal dystrophy and supranuclear ocular motor abnormalities. Joubert's syndrome should be suspected in children in whom dysgenesis of the cerebellar vermis and hypoplasia of the brainstem is shown on CT or MRI.
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Joubert M, Eisenring N, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis. Neurology 19: 813–825
Boltshauser E, Isler W (1977) Joubert syndrome: episodic hyperpnoea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropediatrie 8: 57–66
King MD, Dudgeon J, Stephenson JBP (1984) Joubert's syndrome with retinal dysplasia; neonatal tachypnoea as the clue to the genetic brain-eye malformation. Arch Dis Child 59: 709–718
Hart MN, Malamud N, Ellis WG (1972) The Dandy-Walker syndrome. A clinicopathological study based on 28 cases. Neurology 22: 771–780
Tal Y, Freigang B, Dun HG et al. (1980) Dandy-Walker syndrome. Analysis of 21 cases. Dev Med Child Neurol 22: 189–201
Boltshauser E, Herdan M, Dumermith G, Isler W (1981) Joubert syndrome: Clinical and polygraphic observations in a further case. Neuropediatrie 12: 181–191
Egger J, Bellman M, Ross EM, Baraitser M (1983) Joubert-Boltshauser syndrome with polydactyly in siblings. J Neurol Neurosurg Psychiatry 45: 737–739
Aicardi J, Castello-Branco M, Roy C (1983) Le syndrome de Joubert. A propos de cinq observations. Arch Fr Pediatr 40: 625–629
Elk JJ, Gresty MA, Chambers BR, Findley LJ (1982) Acquired pendular nystagmus: characteristics, pathophysiology and pharmacological modification. In: Roucoux A, Crommelinck M (eds) Physiological and pathological aspects of eye movements. Junk Publishers, The Hague, pp 89–98
Moore AT, Taylor DS (1984) A syndrome of congenital retinal dystrophy and saccade palsy — a subset of Leber's amaurosis. Br J Ophthalmol 68: 421–431
Dekaban AS (1969) Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. Am J Ophthalmol 68: 1029–1036
Weinstein JM, Gleaton M, Weidner WA, Young RSK (1984) Leber's congenital amaurosis. Relationship of structural CNS anomalies to psychomotor retardation. Arch Neurol 41: 204–206
Lindhout D, Barth PG, Valk J, Boen-Tan TN (1980) The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Ophthalmol 68: 421–431
Curatolo P, Mercuri S, Cotroneo E (1980) Joubert syndrome: a case confirmed by computed tomography. Dev Med Child Neurol 22: 362–366
Freide RL, Boltshauser E (1978) Uncommon syndromes of cerebellar vermis aplasia. I. Joubert syndrome. Dev Med Child Neurol 20: 758–763
Optician LM, Robinson DA (1980) Cerebellar-dependent adaptive control of primate saccadic system. J Neurophysiol 44: 1058–1076
Zee DS, Optician LM, Cook JD et al. (1976) Slow saccades in spinocerebellar degeneration. Arch Neurol 33: 243–251
Courchesne E, Young-Courchesne R, Press GA et al. (1988) Hypoplasia of cerebellar vermal lobules VI and VII in autism. N Engl J Med 318: 1349–1354
Abbie AA (1934) The projection of the forebrain on the pons and cerebellum. Proc R Soc Lond [Biol] 115: 504–523
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Kendall, B., Kingsley, D., Lambert, S.R. et al. Joubert syndrome: a clinico-radiological study. Neuroradiology 31, 502–506 (1990). https://doi.org/10.1007/BF00340131
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DOI: https://doi.org/10.1007/BF00340131