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

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.

Orthopaedic Problems in 35 Patients With Organic Acid Disorders

“…Another patient had unilateral dislocation of the hip requiring surgery and a severe 80-degree scoliotic curve requiring posterior spinal arthrodesis during early adolescence. Although not seen in this cohort, other orthopaedic problems previously reported in patients with PDH deficiency include shortening of the limbs, bilateral and symmetric humeroradial synostosis with ulnar ray hypoplasia, flexion contractures, pes cavus, and talipes equinovarus 29,30…”

“…Although not seen in this cohort, other orthopaedic problems previously reported in patients with PDH deficiency include shortening of the limbs, bilateral and symmetric humeroradial synostosis with ulnar ray hypoplasia, flexion contractures, pes cavus, and talipes equinovarus. 29,30 Patients with GA type 1 can have damage in the caudate nucleus and putamen of the basal ganglia caused by buildup of toxic metabolites. This damage results in a movement disorder.…”

Orthopaedic Manifestations of Inborn Errors of Metabolism

“…PDH deficiency affects fetal development, which manifests as poor fetal weight gain. Several case studies also have reported a characteristic dysmorphic appearance associated with PDH deficiency, including a narrow head, frontal bossing with a high nasal bridge, a long philtrum, and flared nostrils; however, this appearance is not specific to the disease, and not all patients with PDH deficiency have this appearance 20 . Other reported congenital malformations include single transverse palmar creases, a short neck, shortening of the limbs, bilateral and symmetric humeroradial synostosis with ulnar ray hypoplasia, flexion contractures, pes cavus, talipes equinovarus, ventricular septal defects, and hydronephrosis 20,21 .…”

Agenesis of the Corpus Callosum Associated with Persistent Primitive Olfactory Artery - Case Report and Literature Review

“…ACC results from commissural defects, and although it can occur for a number of reasons, including genetic, metabolic, or vascular abnormalities, in most cases, the cause remains unknown [1]. Brain anomalies and other malformations associated with ACC include lipoma of the corpus callosum, cerebellar hypoplasia, Dandy-Walker syndrome, hydrocephalus due to obstruction of the foramen of Monro or aqueduct stenosis, interhemispheric cyst, porencephalic cyst, and neuronal migration disorders [2]. Associated craniofacial dysmorphic features include hypertelorism, encephaloceles, and craniosynostosis.…”

“…Associated craniofacial dysmorphic features include hypertelorism, encephaloceles, and craniosynostosis. Commonly seen ocular anomalies include microphthalmia, coloboma, retinal lacunae (Aicardi syndrome), and optic nerve hypoplasia [2]. Cerebral vascular anomalies associated with ACC include sinus pericranii [3], meandering of the anterior cerebral artery (ACA), coursing of the ACA directly upwards in the interhemispheric fissure, and persistent falcine sinus [4].…”