Congenital defect of cerebellum with its neurologic
Very rare, autosomal recessive.
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.
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
Mathews KD, Afifi AK, Hanson JW: Autosomal recessive cerebellar
hypoplasia. J Child Neurol
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