INTRODUCTION X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT Second child born to he...

Corpus callosum agenesis is a relatively common brain malformation. It can be isolated or included in a complex alteration of brain (or sometimes even whole body) morphology. It has been associated with a number of neuropsychiatric disorders, from subtle neuropsychological deficits to Pervasive Developmental Disorders.Etiology and pathogenetic mechanisms have been better understood in recent ye...

Sonographic features are described in six infants in whom total or partial agenesis of the corpus callosum was confirmed by either computed tomographic or pathologic examination. The six patients demonstrated a range of abnormalities involving the neuraxis as well as other systems, notably cardiovascular, gastrointestinal, and genitourinary. Chromosomal abnormalities were present in two patient...

Purpose. The objective of this study was to present and describe two additional patients diagnosed with Vici syndrome. Methods. Clinical, laboratory, and imaging findings of the two siblings are discussed in detail. The two patients' descriptions are compared with the other eleven patients reported in the literature. We also presented detailed autopsy results on the male sibling, which demonstr...

This study was conducted in a tertiary pediatric epilepsy clinic to ascertain the spectrum of development malformations in children, with seizures. Seventy Six Children (0-12 yr) with seizures and CNS malformations based on neuroimaging were included. Observed anomalies included dysgenetic corpus callosum (DCC), lissencephaly, focal cortical dysplasia (FCD), pachygyria, polymicrogyria, heteroto...

The MR imaging studies of 68 patients who had brain anomalies were reviewed retrospectively to evaluate specific anatomic abnormalities of the corpus callosum. The corpus callosum was abnormal in 32 (47%) of the 68 patients. Excluding patients with the Chiari I malformation, callosal anomalies were present in 30 (68%) of 44 patients. Callosal dysgenesis was most common, followed by callosal atr...

The corpus callosum is a large fiber tract that connects neurons in the right and left cerebral hemispheres. Agenesis of the corpus callosum (ACC) is associated with a large number of human syndromes but little is known about why ACC occurs. In most cases of ACC, callosal axons are able to grow toward the midline but are unable to cross it, continuing to grow into large swirls of axons known as...

Introduction: Dandy Walker Syndrome (DWS) is a congenital brain malformation characterized by hypoplasia or absence of cerebellar vermis, cystic dilatation of fourth ventricle and hydrocephalus. It is frequently associated with other congenital anomalies. Associated central nervous system anomalies such as agenesis of corpus callosum and vermis are associated with poor prognosis. Association of...

A 22-year-old woman presented with learning disability and gait unsteadiness since adolescence. Medical history revealed episodes of encephalopathy and myoclonic jerks associated with intercurrent infections. Examination showed spastic paraparesis, ataxia and optic atrophy. Neuroimaging revealed agenesis of corpus callosum (Figure). Plasma amino acid analysis disclosed elevated glycine levels w...

BACKGROUND AND PURPOSE The corpus callosum (CC) is the most important structure involved in the transmission of interhemispheric information. The aim of this study was to investigate the potential correlation between regional age-related white matter changes (ARWMC) and atrophy of CC in elderly subjects. MATERIALS AND METHODS In 578 subjects with ARWMC from the Leukoaraiosis And DISability (L...