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Congenital defect of cerebellum with its neurologic symptomatology.

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Very rare, autosomal recessive.

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In complete cerebellar aplasia, infants present at birth with hypotonia, tremor and nystagmus. Central respiratory depression has been described. Less severe forms are manifested by varying degrees of nonprogressive ataxia, tremor, nystagmus, speech disorder, areflexia/hyporeflexia, mental retardation, and paraparesis/quadriparesis. Patients may present at advanced age.

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Anesthesia care for autosomal recessive cerebellar hypoplasia has not been described. Evaluate respiratory function (clinical, history, chest x-rays, computed tomography, pulmonary function test, arterial blood gas analysis). In Joubert syndrome, of which cerebellar hypoplasia has been a component, increased sensitivity to respiratory depressants has been reported. Extended postoperative respiratory monitoring is recommended. Possible increased sensitivity to opiates and other respiratory depressants should be expected.

Habre W, Sims C, D'Souza M: Anaesthetic management of children with Joubert syndrome. Paediatr Anaesth 7:251, 1997.  [PubMed: 9189974]
Mathews KD, Afifi AK, Hanson JW: Autosomal recessive cerebellar hypoplasia. J Child Neurol 4:189, 1989.  [PubMed: 2768782]
Megarbane A, Delague V, Salem N, et al: Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. Am J Med Genet 87:88, 1999.  [PubMed: 10528257]

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