Last modified: 2018-09-09
Abstract
Background: Pontocerebellar hypoplasia (PCH) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by cerebellar and pontine hypoplasia, progressive microcephaly, and developmental delay. Ten types of PCH have been described, whereas PCH type 2A (PCH2A) with a mutation in TSEN54 gene is the most frequent. Seizures have been reported in the large majority of patients which increase with age, along with difficulties in differentiation from dyskinetic movements The aim of the present report was to describe the clinical symptoms and interictal/ictal electroencephalogram (EEG) changes over time in three patients with PCH2A.
Methods: Three patients of Israeli Arab Moslem origin, two siblings, and their first cousin, were homozygous for the TSEN54 p.A304S mutation and diagnosed with PCH2A. The EEGs and the MRI scans were reviewed by an experienced epileptologist, and a neuroradiologist, respectively
Results: All three patients demonstrated profound psychomotor retardation, severe spasticity and contractures, chorea-athetoid movements, and seizures. A "dragonfly-like" cerebellar pattern was seen in all patients on magnetic resonance imaging (MRI) scan. All three patients had characteristic features of epilepsy despite the normal early EEG findings, with clonic or tonic seizures starting in infancy (7-9 months). followed by tonic-clonic and myoclonic seizures in early childhood and