Endocrine Abstracts

Introduction: The corpus callosum is the most important of the interhemispheric commissures, its fibers called callosal radiations have a transverse direction. They connect different points of the neocortex. The corpus callosum represents the neopallial commissure; it has indeed a phylogenetic development modeled on that of the neocortex. Hypoplasia of the corpus callosum is included in a rare polymalformative syndrome characterized by agenesis of the corpus callosum (CC), distal limb anomalies, minor craniofacial anomalies and intellectual deficit.

Observation : We report the case of a girl aged one year and 2 months, referred to us at the endocrinology department for staturo-ponderal growth retardation, weight and height <-2 DS, with delayed psychomotor acquisition. In whom the clinical examination objectives: axial hypotonia, cleft lip and palate, delayed dentition = 2 lower and upper median incisors (corresponds to the development of a 7 months old baby), no low hairline, normal aspect of the OGE. A brain magnetic resonance imaging (MRI) was performed on her showing hypoplasia of the corpus callosum with partial agenesis of her knee, without any other anomaly of the brain parenchyma.

Discussion: In acrocallosis syndrome (ACS), craniofacial anomalies include macrocephaly with a prominent forehead and occiput, hypertelorism, a large anterior fontanel, a short nose with a wide nasal bridge and anteverted nostrils, and a short mandible. Anencephaly has been observed as well as supernumerary bone in the anterior fontanel, calvarial defect or Dandy Walker malformation. Hypoplasia or agenesis of the corpus callosum is the major characteristic sign of the syndrome. It may be associated with arachnoid cysts in about one third of cases and with various other cerebral anomalies (hypoplasia of the medulla oblongata, temporal lobe or bridge, micropolygyria and hypoplasia or agenesis of the cerebellar vermis with a characteristic "molar tooth" sign). The vast majority of patients have an intellectual disability which is severe in 80% of cases with a marked psychomotor delay. Hypoplasia of the corpus callosum is defined as thinning and/or narrowing of the entire corpus callosum. It occurs after the 20th week of gestation.

Conclusion: The corpus callosum plays an important role in the praxis and gnostic psychic functions that require the participation of both hemispheres; its fibers connect especially the associative areas. Its alteration plays a determining role in intellectual failure at its highest level.