A congenital syndrome characterized by mental retardation, white matter hypoplasia, agenesis or extreme hypoplasia of the corpus callosum, and failure to thrive.
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome.
Less 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.
These patients present with short stature, generalized hypotonia, and hyperreflexia. Mental retardation (of varying severity), microcephaly, frontal bossing, hypertelorism, broad nasal root, micro- or retrognathia, and failure to thrive appear to be common findings. CT- and/or MRI-scanning of the brain reveal cortical atrophy, severe white matter hypoplasia, ventricular dilatation, and extreme hypoplasia/agenesis of the cerebellum, the corpus callosum, and the septum pellucidum.
Precautions before anesthesia
Anesthetic management in this syndrome has not been described. Check for possible difficult airway management due to facial anomalies. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.
Difficult airway management should be expected, thus maintaining spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered.
None specific to this syndrome.
MR, Del Giudice
et al: Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: A new distinctive syndrome. Neuropediatrics
et al: Agenesis of the corpus callosum and epilepsy. 26 cases. Rev Neurol