Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome

Abstract

Background and purpose: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a multisystem developmental disorder associated with a number of well-described clinical and imaging findings, including cerebellar hypoplasia. We observed cerebellar heterotopias on MR imaging in 2 patients with CHARGE, confirmed by postmortem examination. We sought to determine the prevalence and define the characteristics of similar findings on MR imaging for a cohort of patients with CHARGE syndrome.

Materials and methods: We performed a retrospective, observational, cross-sectional study to assess the prevalence and characteristic features of cerebellar heterotopias in 35 patients with CHARGE syndrome with available brain MR imaging studies, as well as to evaluate additional features of cerebellar dysgenesis.

Results: Cerebellar heterotopias were identified in 27/35 (77%) patients with CHARGE, characteristic in both location and appearance. Additional features of cerebellar dysgenesis were present in 31/34 evaluable patients (91%), including inferior vermian hypoplasia (90%), anteromedial rotation of the inferior tonsils (90%), and disorganized foliation of the cerebellar hemispheres (74%) or superior vermis (16%).

Conclusions: Patients with CHARGE syndrome have a high prevalence of characteristic cerebellar heterotopias and disorganized foliation and abnormal cerebellar morphology, thereby expanding the phenotype of cerebellar dysgenesis in this syndrome.