PEHO syndrome

PEHO syndrome is a progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. It is a very rare disease, one of the Finnish heritage diseases, although approximately half of the cases reported so far are not-Finnish and have been described worldwide .[2][3]

PEHO syndrome
Other namesProgressive encephalopathy with edema, hypsarrhythmia and optic atrophy
PEHO syndrome is inherited in an autosomal recessive manner[1]

It has been suggested that it may also be present in Australian and American populations.[4]

Aetiology

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 the Finnish-type of PEHO syndrome.[5] However, the syndrome appear to be genetically heterogeneous and it might reflect an underlying genetic tubulinopathy, with biallelic mutations in the gene PRUNE1 also identified in non-Finnish patients with PEHO syndrome. [6]

Diagnosis

Treatment

References
  1. "OMIM Entry - # 260565 - PEHO SYNDROME; PEHO". omim.org. Retrieved 4 August 2017.
  2. 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.
  3. 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.
  4. 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.
  5. 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
  6. Salpietro V, Zollo M, Vandrovcova J, Ryten M, Botia JA, Ferrucci V, Manole A, Efthymiou S, Al Mutairi F, Bertini E, Tartaglia M, SYNAPS Study Group, Houlden H (2017) The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like Disorders. Brain DOI: 10.1093/brain/awx155
Classification


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