Neurológia pre prax 1/2017

Pontocerebellar hypoplasia

Pontocerebellar hypoplasia is a group of heterogeneous inherited disorders. There have been reported eight different subtypes up to now, but the most common are type 1 and 2. Usually have prenatal or early postnatal onset, typically it is manifested by severe psychomotor retardation with hypotonia or on the other hand with spasticity. Most of the patient has microcephaly and during the disease there are reported seizures. The diagnosis is based on genetic testing, nowadays are known several causal genes and on neuroimaging with characteristic hypoplasia and atrophy of the cerebellum and variable pontine atrophy. We documented the case report of two sisters with delay psychomotor development, they have severe mental retardation and severe motor impairment with kvadruspasticity. There have been reported epileptic seizures and MR confirm hypoplasia of the cerebellum and pons.

Keywords: pontocerebellar hypoplasia, differential diagnosis of cerebellar ataxias, genetics