pontocerebellar hypoplasia type 1; pontocerebellar hypoplasia with infantile spinal muscular atrophy; pontocerebellar hypoplasia with anterior horn cell disease

Pathology

• abnormally small cerebellum & brainstem (hypoplasia of cerebellum & pons)
• central & peripheral motor dysfunction from birth
• gliosis
• anterior horn cell degeneration

Genetics

• associated with defects in VRK1

Differential diagnosis

• resembles infantile spinal muscular atrophy

More general terms

• pontocerebellar hypoplasia
• genetic disease of the central nervous system

Database

• OMIM: https://mirror.omim.org/entry/607596