PEHO syndrome

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PEHO syndrome
Classification and external resources
OMIM 260565
DiseasesDB 33582

PEHO syndrome is a progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. It is a very rare disease, one of the Finnish heritage diseases, and has been reported also in Dutch and Swiss infants.[1][2]

It has been suggested that it may also be present in Australian and American populations.[3]

Aetiology[edit]

A mutation in the ZNHIT3 gene - a nuclear zinc finger protein involved in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly has been shown to be the cause of this syndrome.[4]

References[edit]

  1. ^ Vanhatalo S, Somer M, Barth PG (April 2002). "Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome". Neuropediatrics. 33 (2): 100–4. doi:10.1055/s-2002-32371. PMID 12075493. 
  2. ^ Klein A, Schmitt B, Boltshauser E (2004). "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child". European Journal of Paediatric Neurology. 8 (6): 317–21. doi:10.1016/j.ejpn.2004.08.006. PMID 15542387. 
  3. ^ Field MJ, Grattan-Smith P, Piper SM, et al. (September 2003). "PEHO and PEHO-like syndromes: report of five Australian cases". American Journal of Medical Genetics. 122A (1): 6–12. doi:10.1002/ajmg.a.20216. PMID 12949965. 
  4. ^ Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E10, Muona M1,2,3,10, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE (2017) ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. Brain doi: 10.1093/brain/awx040