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...

Subcortical band heterotopia (SBH) or 'double cortex' is a congenital brain abnormality that results from aberrant migration of neurons during development of the cortex. MRI shows a continuous band of heterotopic gray matter located between the cortex and ventricular walls, separated from them by a thin layer of white matter. The condition is quite rare, found predominantly in females, and is o...

Thank you to all who conscientiously filled out this long survey. We also appreciate all the family members, friends, and professionals who share their love and expertise with those with ACC. And we thank each of the children and adults with ACC for being our teachers. We thank Warren Brown and Lynn Paul of the Travis Insititute for Biopsychosocial Research, Pasadena, CA and Paul Moes of Calvin...

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...

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

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...