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A congenital syndrome characterized by mental retardation, white matter hypoplasia, agenesis or extreme hypoplasia of the corpus callosum, and failure to thrive.

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Fewer than 10 cases have been described in the literature. The genetic inheritance pattern has not been determined, yet.

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Based on the clinical findings associated with neuroimaging features of cortical atrophy, ventricular dilatation, cerebellar agenesis/hypoplasia, and agenesis/hypoplasia of the corpus callosum and the septum pellucidum.

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Patients present with short stature, generalized hypotonia, and hyperreflexia. Mental retardation (of varying severity), microcephaly, frontal bossing, hypertelorism, broad nasal root, micrognathia or retrognathia, and failure to thrive appear to be common findings. Magnetic resonance imaging of the brain reveals severe white matter hypoplasia, extreme hypoplasia or even agenesis of the cerebellum and the corpus callosum, and minor midline facial abnormalities.

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Anesthetic management in this syndrome has not been described. Obtain a history of the seizures and their response to treatment. Check for possible difficult airway management. Mental retardation may affect patient compliance. Preoperative sedation and/or the presence of the primary caregiver during induction may be helpful.

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Difficult airway management should be expected, and spontaneous ventilation maintained until the airway has been secured. Alternative airway management techniques such as laryngeal mask or fiberoptic bronchoscope should be easily available.

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The metabolism of some anesthetic agents may be altered by long-term use of antiepileptic drugs. Avoid medications that lower the seizure threshold. Avoid neuromuscular blockers until the airway has been secured.

Curatolo P, Cilio MR, Del Giudice E, et al: Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: A new distinctive syndrome. Neuropediatrics 24:77, 1993.  [PubMed: 8327066]
Septien L, Gras P, Giroud M, et al: Agenesis of the corpus callosum and epilepsy. 26 cases. Rev Neurol 149:257, 1993.  [PubMed: 8235222]

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