Summary
Absent corpus callosum, cataract, immunodeficiency syndrome is marked by the combination of agenesis of the corpus callosum, cutaneous hypopigmentation, bilateral cataract and combined immunodeficiency. It has been described in only eight patients, including three pairs of sibs, males and females. Affected patients suffered from psychomotor retardation, seizures and recurrent respiratory infections. Most of them died of recurrent infectious diseases in early childhood. In one of the patients who died, profound depletion of T4-positive lymphocytes, and deficiency of serum IgG2 were demonstrated. Autopsy showed agenesis of the corpus callosum, and hypoplasia of the cerebellar vermis and of the thymus and peripheral lymphoid tissue. In some cases hypopigmentation appeared as oculocutaneous albinism. Other inconsistent findings included cleft lip and palate, cardiomyopathy, hypotonia, postnatal growth retardation and microcephaly. The finding of affected sibs of both sexes born to unaffected parents supports autosomal recessive inheritance. *Author: Orphanet (April 2005)*.
