PEHO syndrome
Other namesProgressive encephalopathy with edema, hypsarrhythmia and optic atrophy
Usual onsetInfancy, Neonatal
Diagnostic methodMainly clinical, MRI
Differential diagnosisAicardi syndrome, mevalonic aciduria, CDG syndromes, autosomal recessive cerebellar hypoplasia, Joubert syndrome, olivo-pontine cerebellar atrophies
TreatmentSupportive care
PrognosisVery poor; most die before age 15

PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) is an autosomal recessive and dominant, progressive neurodegenerative disorder that starts in the first few weeks or months of life. Early symptoms include infantile spasms, hyparrhythmia, and seizures, and optic atrophy. Other features include arrest of global developmental delay, severe intellectual deficit, encephalopathy, tapered fingers, and facial dysmorphism.[1]

There is no specific treatment for PEHO syndrome; only the symptoms associated with the syndrome can be managed. PEHO syndrome affects the Finnish population with an estimate of 1 in 78,000; cases have been described in non-Finnish persons and from other countries.[2][3][4]

Cause

The cause of the Finnish-type PEHO syndrome is homozygous pathogenic variants in the ZNHIT3 gene. Variants affecting the motor domain of KIF1A has also been suggested to cause full or partial phenotype of PEHO in others. There has been other pathogenic variants in other genes known to be associated with the syndrome.[5][6][7]

Diagnosis

Treatment

There is no cure for PEHO syndrome. Some symptoms can be managed, but otherwise treatment is supportive care.

References

  1. ↑ OrphanNet. "PEHO syndrome".
  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, Thompson EM, Haan EA, Edwards M, et al. (September 2003). "PEHO and PEHO-like syndromes: report of five Australian cases". American Journal of Medical Genetics. Part A. 122A (1): 6–12. doi:10.1002/ajmg.a.20216. PMID 12949965. S2CID 28530225.
  5. ↑ Langlois S, Tarailo-Graovac M, Sayson B, Drögemöller B, Swenerton A, Ross CJ, et al. (June 2016). "De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome". European Journal of Human Genetics. 24 (6): 949–53. doi:10.1038/ejhg.2015.217. PMC 4867456. PMID 26486474.
  6. ↑ Salpietro V, Zollo M, Vandrovcova J, Ryten M, Botia JA, Ferrucci V, et al. (August 2017). "The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders". Brain. 140 (8): e49. doi:10.1093/brain/awx155. PMC 5806505. PMID 28899015.
  7. ↑ Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL, et al. (December 2018). "PEHO syndrome: the endpoint of different genetic epilepsies". Journal of Medical Genetics. 55 (12): 803–813. doi:10.1136/jmedgenet-2018-105288. PMID 30287594.
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