Acrocallosal syndrome is an autosomal recessive form of polysyndactyly associated with mental retardation and agenesis of the corpus callosum. There have been suggestions that it is allelic to the Greig cephalopolysyndactyly syndrome. Linkage analysis, using flanking markers, shows this suggestion is unlikely to be correct.

BACKGROUND Magnetic resonance imaging (MRI) is gradually becoming more common for thorough visualization of the fetus than ultrasound (US), especially for neurological anomalies, which are the most common indications for fetal MRI and are a matter of concern for both families and society. OBJECTIVES We investigated fetal MRIs carried out in our center for frequency of central nervous system a...

We report a rare case of oral mass (epignathus) with intracranial extension originally suspected antenatally at 16 weeks' gestation because of a persistent open mouth. Postmortem MRI and pathologic examination of the fetus confirmed an oral teratoma with bilateral ventricular dilatation, corpus callosum agenesis, and a neuroepithelial intracranial cyst. The relevant literature regarding this an...

Arachnoid cysts are benign developmental cysts that occur throughout the cerebrospinal axis in relation to the arachnoid membrane and the subarachnoid space(l). Intracranial arachnoid cysts usually occur in close proximity to arachnoid cisterns, most often in the sylvian fissure(2) and they become symptomatic in early childhood(3). We report an interhemispheric arachnoid cyst associated with ag...

Complete or partial agenesis of the corpus callosum results in an alteration in anatomical developmcnt of the midline structures of the cerebral hemisphere. The influence of such maldevelopment on the position of the hippocampus and its connections will be considered in this study. In addition, agenesis of the corpus cal-losum may allow structures existing in normal brains to become more eviden...

Gelastic epilepsy has been reported to originate from various conditions, particularly from hypothalamic hamartoma (HH). In the present study, we report a patient with gelastic seizures (GSs), followed by complex partial and tonic-clonic seizures. Magnetic resonance imaging (MRI) revealed a rare combination of HH and partial agenesis of the corpus callosum (ACC). Following resectioning of the H...

A case of diencephalic epilepsy is described in whom stereotyped attacks of spontaneous hypothermia and diaphoresis occurred over a 20 year period. No abnormality of the hypothalamo-pituitary-adrenal axis was found, and there was no evidence of an intracranial mass lesion. Pneumoencephalography and computerised axial tomography (EMI scan) demonstrated agenesis of the corpus callosum.

Two brothers with developmental delay and unusual cranial configurations were found to have agenesis of the corpus callosum (ACC) by CT scan. Six published families in which ACC occurred in the absence of extracranial malformations are reviewed. No single mode of inheritance can account for all of these familial cases. This family illustrates the value of CT scanning in evaluating children with...