Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion

Macrocerebellum is a rare condition characterized by enlargement of the cerebellum with conservation of the overall shape and cytoarchitecture. Here, we report on a child with a distinctive constellation of clinical features including macrocerebellum, epilepsy, apparent intellectual disability, dysautonomia, gut malrotation, and poor gut motility. Oligonucleotide chromosome microarray analysis identified a 16q24.1–q24.2 deletion that included four OMIM genes ( FBXO31 , MAP1LC3B , JPH3 , and SLC7A5 ). Review of prior studies describing individuals with similar or overlapping16q24.1–q24.2 deletions identified no other reports of macrocerebellum. These observations highlight a potential genetic cause of this rare disorder and raise the possibility that one or more gene(s) in the 16q24.1–q24.2 interval regulate cerebellar development. © 2014 Wiley Periodicals, Inc.