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Genetic disorder characterized by developmental delay,
immunodeficiency, cleft lip/palate, cataract, hypopigmentation, and absent
corpus callosum.
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Fewer than 10 cases have been reported in the
literature.
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Unknown. There is speculation about a defect
involving the embryogenic organization of both the CNS and the immune system
such as regulating gene products.
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Clinical findings and combined immunodeficiency with
reduced IgG levels (particularly IgG2 subclass), normal IgA and IgM levels,
and low number of circulating T lymphocytes, mainly T4.
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Patients present with profound developmental
delay associated with agenesis of the corpus callosum, microcephaly,
hypotonia, seizures, and, occasionally, severe hypoplasia of the cerebellar
vermis. Cortical dysplasia and schizencephaly have been described. One of
the main features of this syndrome is a combined immunodeficiency with
decreased levels of T4 lymphocytes and serum IgG. This is a result of
profound hypoplasia of the thymus and the peripheral lymphoid tissue.
Activity of the natural killer cells, however, was reported to be normal.
Recurrent infections, particularly pulmonary infections (partially also
related to recurrent aspirations) and chronic mucocutaneous candidiasis, are
a consequence of this immunodeficiency. The disease is also characterized by
hypopigmentation of skin, hair, and retina. Cataract, nystagmus, unilateral
or bilateral cleft lip/palate, micrognathia, and postnatal growth
retardation are other, but inconstant, features. Cardiac involvement can
occur in the form of endocardial fibroelastosis and/or progressive
cardiomyopathy with dilatation or hypertrophy of the left ventricle. None of
the reported patients has survived beyond age 3 years. Death from cardiac
failure has been described, but most often death is the result of
bronchopneumonia.
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Patients are most often booked for
percutaneous gastric tube insertion secondary to failure to thrive. Request
a chest radiograph to rule out respiratory tract infection. Obtain an ECG
and an echocardiogram if cardiomyopathy is suspected. Continue antiseizure
medication up to the morning of surgery.
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Airway management may be more difficult
than usual because of the micrognathia and cleft lip/palate. Sterile
precautions are mandatory for all line insertions because of
immunodeficiency. If cardiomyopathy is present, then medical therapy to
improve left ventricular function should be optimized before the patient
presents for an elective procedure.
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Avoid drugs with negative inotropic
effect. Avoid or decrease the dose of muscle relaxants in the context of
hypotonia. In the presence of a seizure disorder, potentially epileptogenic
drugs such as methohexital, ketamine, enflurane, atracurium,
cis-atracurium, and meperidine (applies to the latter three only if given in
large quantities, because of their metabolites, laudanosine and
normeperidine, respectively) should be avoided. Chronic antiseizure
medication can lead to induction of hepatic enzymes and therefore accelerate
the metabolism of predominantly hepatically eliminated drugs.
Antibioprophylaxis should be adapted because of the immunodeficiency.
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Aicardi Syndrome: 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. ...