Pontocerebellar hypoplasia type 5
Alternate names[edit | edit source]
Olivopontocerebellar hypoplasia fetal-onset
Definition[edit | edit source]
Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
Epidemiology[edit | edit source]
PCH5 is reported in 3 siblings to date.
Cause[edit | edit source]
PCH5 is caused by a compound heterozygosity for p.A307S plus splice site mutation in the gene.
Inheritance[edit | edit source]
PCH5 transmission is autosomal recessive inheritance.
Signs and symptoms[edit | edit source]
PCH5, clinically resembling PCH4 , is characterized by fetal onset of clonus or seizure-like episodes, microcephaly, cerebellar hypoplasia persisting in infancy and microencephaly leading to early postnatal death.
Diagnosis[edit | edit source]
- Clinically similar to PCH4, PCH5 is demonstrated on autopsy.
- MRI demonstrates inferior olivary dysplasia, and pontocerebellar hypoplasia with the vermis much more degenerated than cerebellar hemispheres. Pathological findings show and increased degeneration with Purkinje and granule cells in the vermis.
Antenatal diagnosis Antenatal diagnosis is possible by ultrasonic assessment of cerebellar width at 16-18 weeks gestation.
Treatment[edit | edit source]
PCH4 and PCH5: No specific therapy is available.
NIH genetic and rare disease info[edit source]
Pontocerebellar hypoplasia type 5 is a rare disease.
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