Mental retardation with hypoplastic corpus callosum
and preauricular tag.
Extremely rare disorder with
autosomal recessive transmission.
The most consistent features of this syndrome are
microcephaly, hypoplastic corpus callosum, aqueductal stenosis with enlarged
ventricles, severe mental retardation, large ears with preauricular skin
tags, profound growth retardation, camptodactyly, and recurrent
bronchopneumonias. Electroencephalographs reportedly are normal; however,
hypertonicity and hyperreflexia of all limbs have been described as a common
symptom. Mild micrognathia and high arched palate were additional signs.
Death in the three patients initially described occurred between age 10 and
32 months, most likely as a consequence of bronchopneumonia. One patient who
was alive at age 7 years suffered from recurrent pneumonias and persistent
esophagitis secondary to gastroesophageal reflux.
No references to anesthesia exist.
However, intracranial pressure can be elevated, and an anesthetic technique
tailored accordingly should be provided. Micrognathia usually is mild, and
airway management should not be affected. Because of gastroesophageal
reflux, a rapid-sequence induction is strongly suggested. Depending on the
procedure, patients may need postoperative mechanical ventilation. A
preoperative chest radiograph is recommended. Elective surgery should be
postponed until bronchopneumonia and other airway infections are resolved.
Recurrent bronchopneumonias may affect pulmonary gas exchange, and increased
secretions in the acute phase (for emergency surgery) may result in
obstruction of the endotracheal tube (particularly in small patients).
Zellweger Syndrome: Characterized by the congenital absence of
functioning peroxisomes resulting in a cerebrohepatorenal syndrome.
Aicardi Syndrome: Combination of myoclonic seizures with a
characteristic EEG pattern, lacunar chorioretinopathy, and complete or
partial agenesis of the corpus callosum is characteristic for this X-linked
dominant inherited syndrome.
Schinzel Acrocallosal Syndrome: Very rare autosomal recessive,
complex, polymalformative disease with prominent neurologic and skeletal
anomalies. Anesthetic procedure must consider craniofacial malformations
FG Syndrome: X-linked form of mental retardation associated with
complete or partial agenesis of the corpus callosum and minor facial,
skeletal, and gastrointestinal anomalies.
Andermann Syndrome: Inherited neurodegenerative disorder with
progressive sensorimotor neuropathy.
Cerebro-Reno-Digital Syndrome: Autosomal recessive inherited
syndrome with corpus callosum agenesis, Dandy-Walker malformation, mental
retardation, and paraparesis or quadriparesis. Succinylcholine should be
used with caution.
da-Silva EO: Callosal defect, microcephaly, severe mental retardation,
and other anomalies in three sibs. Am J Med Genet
Naritomi K, Tohma T, Goya Y, et al: Delineation of the da-Silva syndrome. Am
J Med Genet