Pontocerebellar hypoplasia type 2MeSH Supplementary Concept
Preferred Label : pontocerebellar hypoplasia type 2;
Définition CISMeF : Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar
hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary
motor development and later progressive microencephaly, generalized clonus, development
of chorea and spasticity. The majority of patients will not reach puberty.;
Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar
hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary
motor development and later progressive microencephaly, generalized clonus, development
of chorea and spasticity. The majority of patients will not reach puberty.