Medicine:PEHO syndrome
| PEHO syndrome | |
|---|---|
| Other names | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy |
| Usual onset | Infancy, Neonatal |
| Diagnostic method | Mainly clinical, MRI |
| Differential diagnosis | Aicardi syndrome, mevalonic aciduria, CDG syndromes, autosomal recessive cerebellar hypoplasia, Joubert syndrome, olivo-pontine cerebellar atrophies |
| Treatment | Supportive care |
| Prognosis | Very 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.[citation needed]
References
- ↑ OrphanNet. "PEHO syndrome". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2836.
- ↑ "Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome". Neuropediatrics 33 (2): 100–4. April 2002. doi:10.1055/s-2002-32371. PMID 12075493.
- ↑ "Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child". European Journal of Paediatric Neurology 8 (6): 317–21. 2004. doi:10.1016/j.ejpn.2004.08.006. PMID 15542387.
- ↑ "PEHO and PEHO-like syndromes: report of five Australian cases". American Journal of Medical Genetics. Part A 122A (1): 6–12. September 2003. doi:10.1002/ajmg.a.20216. PMID 12949965.
- ↑ "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. June 2016. doi:10.1038/ejhg.2015.217. PMID 26486474.
- ↑ "The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders". Brain 140 (8): e49. August 2017. doi:10.1093/brain/awx155. PMID 28899015.
- ↑ "PEHO syndrome: the endpoint of different genetic epilepsies". Journal of Medical Genetics 55 (12): 803–813. December 2018. doi:10.1136/jmedgenet-2018-105288. PMID 30287594. https://jmg.bmj.com/content/55/12/803.
External links
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