A congenital syndrome characterized by mental
retardation, white matter hypoplasia, agenesis or extreme hypoplasia of the
corpus callosum, and failure to thrive.
Fewer than 10 cases have been described in the
literature. The genetic inheritance pattern has not been determined, yet.
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.
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.
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
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.
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
Septien L, Gras P, Giroud M, et al: Agenesis of the corpus callosum and
epilepsy. 26 cases. Rev Neurol