Rare disorder characterized by partial or complete
agenesis of the corpus callosum, infantile spasms (spasm-like epilepsy),
mental retardation, and an ocular abnormality called lacunae of the
retina. Often associated with other features such as microcephaly and
porencephalic cysts. Onset generally is between age 3 to 5 months. The
disorder affects only females.
Corpus Callosum Agenesis-Ocular Anomalies-Salaam Seizures
Syndrome; Chorio-Retinal Anomalies-Corpus Callosum Agenesis-Infantile Spasms
Syndrome; Corpus Callosum Agenesis-Chorio-Retinopathy-Infantile Spasms
Syndrome; Corpus Callosum Agenesis-Chorio-Retinal Abnormality Syndrome.
Aicardi syndrome was first described in 1965 by Jean
François Marie Aicardi, the French neurologist.
Worldwide approximately 300 to 500 patients have been
Transmitted as an X-linked dominant trait with
embryonic lethality in hemizygous males; however, one male patient (47-XXY)
with Aicardi syndrome has been reported. Gene locus at Xp22.
Aicardi syndrome is most often diagnosed between age 3
and 5 months. Initially, affected girls seem to develop normally before they
begin to have infantile spasms. Onset of infantile spasms at this age
results from closure of the final neural synapses in the brain, a normal
stage of brain development. The combination of myoclonic seizures
with the characteristic EEG pattern (periodic, asynchronous discharges from
both hemispheres but no hypsarrhythmia), lacunar chorioretinopathy, and
complete (72%) or partial agenesis (28%) of the corpus callosum (with
a high rising third ventricle) usually leads to the diagnosis. However,
advances in MRI and CT scanning have shown that the absence (agenesis) of
the corpus callosum may be less frequent than initially thought. Brain
heterotopia has been demonstrated by pneumoencephalogram. Vertebral anomalies
(especially cervical) are frequent. Costovertebral defects can be detected
on conventional radiographs.
In addition to the clinical signs leading to the
diagnosis, microcephaly, Dandy-Walker malformation, lissencephaly,
polymicrogyria, porencephalic cysts, cortical ectopia and heterotopias,
absent pineal gland, papillomata of the choroid plexus, and ventriculomegaly
have been associated with Aicardi syndrome. Costovertebral defects,
including hemivertebrae, kyphoscoliosis, and rib anomalies (extra, absent,
or fused ribs, and/or other malformations), were present in 39% of
patients. Cleft lip/palate and cavernous hemangioma have been reported.
Obtain neck and chest radiographs to
determine the presence of vertebral and costovertebral anomalies. Myoclonic
seizures are frequent, and proper evaluation of the antiepileptic medication
is necessary to decide if intravenous administration of antiseizure drugs is
required in the perioperative period. Hydrocephalus and raised intracranial
pressure must be ruled out prior to induction of anesthesia.
In the presence of cleft lip/palate,
cervical vertebral anomalies, and/or a cavernous hemangioma, airway
management may be difficult. Careful positioning is necessary because of
vertebral and costovertebral anomalies (e.g., kyphoscoliosis). Perioperative
care may include antiepileptic medication (e.g., barbiturates,
benzodiazepines). High concentrations of volatile anesthetic should be
avoided. In the presence of raised intracranial pressure, a rapid sequence
induction (preferentially with rocuronium) to prevent regurgitation and
aspiration should be considered. Recurrent regurgitation and aspiration may
affect ventilation, especially in the presence of kyphoscoliosis.
Maintenance of ...