Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography

Ali Al Kaissi,Herbert Kurz,Wolfgang Bock,Klaus Klaushofer,Gerald Pärtan,Franz Grill,Rudolf Ganger

doi:10.1155/2014/186973

Abstract

Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with agenesis of the corpus callosum. Methods. We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum. Strikingly, both presented with variable upper and lower limb deformities. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review. Results. Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient. The other patient manifested bilateral elbow dislocation, coxa valga, talipes equinovarus, and bilateral juxtacalcaneal accessory bones. Conclusion. The constellation of malformation complexes in our current patients have the hitherto not been reported and expanding the spectrum of skeletal deformities in connection with agenesis of the corpus callosum.

Highlights

Partial or complete absence of the corpus callosum (CC) is among the commonest developmental anomalies of the brain
Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with agenesis of the corpus callosum
We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum

Summary

Introduction

Partial or complete absence of the corpus callosum (CC) is among the commonest developmental anomalies of the brain. A large number of cerebral and other malformations occur in association with callosal agenesis. The brain anomalies include lipoma of the corpus callosum, cerebellar hypoplasia, the Dandy-Walker syndrome, hydrocephalus due to this or to obstruction of the foramen of Monro or aqueduct stenosis, interhemispheric cysts, porencephalic cysts, and the neuronal migration disorders [1, 2]. Associated craniofacial dysmorphic features include hypertelorism, encephaloceles, and craniosynostosis. Ocular anomalies seen include microphthalmia, coloboma, retinal lacunae (Aicardi syndrome), and optic nerve hypoplasia [3]. We describe two sporadic cases of unrelated girls with agenesis of the CC. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review

Clinical Reports

Discussion