Pontocerebellar hypoplasia (PCH)

Genetic types

• There are 9 types: PCH1 to PCH9
• The transmission is autosomal recessive

Genetic mutations

Developmental features

Neurological features

Skeletal features

Reported associations

Magnetic resonance imaging (MRI): atrophy sites

Magnetic resonance imaging (MRI): atrophy patterns

Differential diagnosis: PEHO syndrome

Acronym

References

1. Eggens VR, Barth PG, Niermeijer JM, et al. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Orphanet J Rare Dis 2014; 9:23.
2. Mathew T, Avati A, D'Souza D, Therambil M. Expanding spectrum of RARS2 gene disorders: myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. Epilepsia Open 2018; 3:270-275.
3. Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, Ozkinay F. Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings. J Neurol 2009; 256:416-419.
4. Marsh AP, Lukic V, Pope K, et al. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurol Genet 2015; 1:e16.
5. Burglen L, Chantot-Bastaraud S, Garel C, et al. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis 2012; 7:18.
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Related checklists

• Gomez-Lopez Hernandez syndrome (GLHS)
• Encephaloceles