Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum.

We report on a child with Chudley-McCullough syndrome and re-evaluate the spectrum of imaging findings (in 15 previously reported patients) which appear to be variable and, to some extent, ambiguous in the literature. Magnetic resonance imaging of the brain revealed asymmetric colpocephaly with agenesis of the splenium corporis callosi, ribbon-like subcortical gray matter heterotopia along the cingulate gyri, malrotation of both hippocampi, and dysplasia of the cerebellum. Macrocrania together with sensorineural hearing loss, colpocephaly, and posterior or complete agenesis of the corpus callosum can be considered the hallmarks of the autosomal recessive Chudley-McCullough syndrome. These may be variably associated with interhemispheric arachnoid cyst, cortical dysplasia, gray matter heterotopia, and cerebellar dysplasia. While early support with hearing aids may lead to improved language and cognitive outcome, shunting of ventricular dilatation is not indicated in the Chudley-McCullough syndrome.

Transsphenoidal extension of heterotopic glioneuronal tissue: pathoanatomic considerations in symptomatic neonates.

PURPOSE: In this clinical investigation, we aimed (1) to re-evaluate the nature of glioneuronal tissue with transsphenoidal extension and how it fits into the nomenclature of midline malformations and mass lesions; (2) to find out if our imaging findings support current pathoanatomic concepts of clefts and canals in the sphenoid body of newborns. METHODS: In two neonates with respiratory distress due to nasopharyngeal masses, 3T MRI was performed, and CT in one of them. Imaging features were analyzed in consensus by two pediatric neuroradiologists with histological reports being available. An interdisciplinary panel compared the findings to those of case publications and differential entities from our institutional case collection. RESULTS: Referring to our rare case of transsphenoidal cerebral heterotopia and unique case of hypothalamic hamartoma with transsphenoidal herniation, glioneuronal heterotopia may definitely extend through the sphenoid bone. Consequently, there is reason for brain heterotopias to be labeled as such also in case of an intracranial component. Connection between heterotopic glioneuronal tissue in the nasopharynx and a hypothalamic hamartoma may go along with indistinct margins to normal brain. Neither extension through a transsphenoidal cleft nor association with a cleft palate are specific for cerebral heterotopia. Our findings support the hypothesis that transsphenoidal cerebral heterotopias do not or at least not invariably follow the route of Rathke's pouch, known as the craniopharyngeal canal. CONCLUSION: Transsphenoidal glioneuronal heterotopia should be the top differential diagnosis in MR imaging if a non-enhancing nasopharyngeal mass of an infant extends through a craniopharyngeal cleft within the intersphenoid synchondrosis.