Your QuestionHow common or rare is this condition? Can it be linked to prematurity as a cause?
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Questions on this page
- PCH1A can be caused by mutations in the VRK1 gene
- PCH1B is caused my mutations in the EXOSC3 gene
- PCH2 is caused by mutations in the TSEN54, TSEN2, TSEN34, and SEPSECS genes
- PCH4 is caused by mutations in the TSEN54 gene
- PCH6 is caused by mutations in the RARS2 gene
- PCH8 is caused by mutations in the CHMP1A gene
Specific genes that cause PCH3, PCH5 and PCH7 have not yet been identified.
Although experts agree that PCH has a genetic cause, other causes (such as infectious or toxic) have been reported or suspected in some cases.
During a thorough search of the available literature, we came across one report describing early fatal PCH in premature twin sisters born at 30 weeks gestation. The sisters reportedly also had hypertonia, jitteriness, hyperekplexia (exaggerated startle reaction), and progressive microcephaly and died at 7 weeks of age from respiratory failure. The authors stated that the severe involvement at 30 weeks gestation suggest an early fetal onset.
- Pontocerebellar hypoplasia. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia. Accessed 12/18/2012.
- Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, and Frank Baas. Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia. Orphanet J Rare Dis. 2011; 6:50.
- Pontocerebellar hypoplasia. NORD. March 16, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1211/viewAbstract. Accessed 12/18/2012.
- PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A. OMIM. 2012; http://omim.org/entry/607596. Accessed 12/19/2012.
- Chaves-Vischer V, Pizzolato GP, Hanquinet S, Maret A, Bottani A, Haenggeli CA. Early fatal pontocerebellar hypoplasia in premature twin sisters. Eur J Paediatr Neurol. 2000; 4(4):171-176.