Corpus callosum dysgenesis : a case study



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CORPUS CALLOSUM DYSGENESIS : A CASE STUDY


ABSTRACT

Agenesis of corpus callosum can have various neuropsychiatric and developmental manifestations. Following case report highlights the case of a young female child presenting with features of not ability to hold head and delayed speech. The child showed no other positive findings and is conscious and oriented at the time of examination. Following this complains the patient was subjected for a non contrast MRI. Neuroimaging revealed agenesis of corpus callosum. There were no other findings which could explain the current situation experienced by the patient

INTRODUCTION

Corpus callosum dysgenesis is the most common CNS malformation and is found in 3-5% of individuals with neurodevelopmental disorders. It has a prevalence of at least 1:4000 live births. Non-syndromic corpus callosum dysgenesis is found in patients of all ages.[1] Agenesis of corpus callosum (ACC) is mostly a congenital anomaly that occurs predominantly in males, either isolated or in combination with other CNS or systemic malformations.[2]  The occurrence of ACC is usually sporadic. Disturbance of embryogenesis in the first trimester of pregnancy by an unknown insult is sometimes put forward as a probable antenatal cause.[1] If the anterior portion of the corpus callosum( genu and splenium ) is small or absent, then one may conclude that there is some disturbance in normal unfolding of events along the axis of passage of the callosal fibers. This state represents true callosal hypogenesis. If the anterior portion of corpus callosum is small or absent and posterior portion is present, then, with certain exceptions, there has most likely been secondary destructive injury to corpus callosum rather than defect in development.[3]

CASE REPORT

A 2 yr old girl resident of Mumbra of non consanguineous marriage presented with complains of inability of head holding and delayed speech (inability to utter any monosyllable) and no other positive complains. The patient had an uneventful full term normal delivery. Immunization history was un remarkable. Her other motor and sensory milestones were unremarkable. The patients general and systemic examination as unremarkable.

Following this she was subjected for a routine non contrast MRI to rule out any findings of periventricular leukomalacia or any foci of chronic ischemic insult.

Axial T2 and FLAIR images showed dilated occipital horns of both lateral ventricles. Anterior horns of both lateral ventricle could not be visualized. Giant cisterna magna is seen





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