- 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 populations.[3]
References
- ^ 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.
- ^ 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.
- ^ Field MJ, Grattan-Smith P, Piper SM, et al. (September 2003). "PEHO and PEHO-like syndromes: report of five Australian cases". Am. J. Med. Genet. A 122A (1): 6–12. doi:10.1002/ajmg.a.20216. PMID 12949965.
Categories:- Rare diseases
- Medicine stubs
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