Cerebellar hypoplasia in a case with neurofibromatosis type 1.

To cite: Işıkay S. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013202160 DESCRIPTION A 6-year-old boy was followed by our clinic due to epilepsy and neurofibromatosis type 1 (NF-1). The patient experienced generalised tonic–clonic seizures for the previous 3 years, which were controlled by 1.5 years of valproic aci and clonazepam treatments. Physical examination found many café-au-lait spots on various parts of the body and Lisch nodules in the iris on eye examination. Neurological examination showed cerebellar dysfunctions (gait ataxia, dysmetria, dysdiadochokinesia and dysarthria) and mild mental retardation. Brain MRI showed global cerebellar hypoplasia and signal variations in bilateral thalamuses. Subarachnoid distance was found to be large in posterior fossa (figure 1). NF-1 is an autosomal dominant neurocutaneous syndrome with frequent involvement of the central nervous system. Evaluation of the central nervous system in NF-1 may help identify heterotopia, cortical dysplasia, cortical malformations such as pachygyria and polymicrogyria, unidentified bright objects, optic glioma, encephalocele, Arnold-Chiari malformation and aqueductal stenosis. Cerebellar