A Case of Ophthalmoplegia, Hypotonia, and Developmental Delay in the Setting of Corpus Callosum Hypoplasia

Anomalies of the corpus callosum, including complete agenesis, partial agenesis, and hypoplasia, are some of the most common brain malformations. Corpus callosum abnormalities are potentially syndromic, many of which have identifiable genetic etiologies. Patients affected with either syndromic or non-syndromic corpus callosum anomalies may also have associated ophthalmologic abnormalities. Some of the syndromes with corpus callosum malformations that also involve ophthalmologic findings include Aicardi syndrome, Mowat-Wilson syndrome, and Xia-Gibbs syndrome. This case report describes a patient with hypoplasia and possible dysgenesis of the corpus callosum noted on magnetic resonance imaging (MRI) who had several ophthalmologic findings, including ophthalmoplegia, strabismus, and nystagmus, associated with microcephaly, dysmorphic facial features, global developmental delay, hypotonia, and cryptorchidism. While several previously identified syndromes share similar clinical features with this patient, these findings may also represent an unidentified genetic syndrome, and the patient remains under evaluation for a genetic diagnosis. This report explores the differential for ophthalmologic abnormalities in the setting of corpus callosum hypoplasia.