PEHO syndrome
 | This article may be too technical for most readers to understand. (June 2009) |
| PEHO syndrome | |
|---|---|
| |
| Synonyms | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy |
| Pronounce | |
| Field | |
| Symptoms | |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | |
| Risks | |
| Diagnosis | |
| Differential diagnosis | |
| Prevention | |
| Treatment | |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
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]
It has been suggested that it may also be present in Australian and American populations.[4]
Aetiology[edit | edit source]
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[edit | edit source]
- Diagnosis is mainly clinical and depends on the presence of the following diagnostic criteria: early-onset severe hypotonia
- The occurrence of seizures, infantile spasms and hypsarrhythmia after the first two weeks of life
- Onset of optic atrophy before two years of age, and failure to obtain any of the milestones for motor, visual and language development.
- An additional criterion is demonstration of cerebellar and brainstem atrophy by MRI.
- A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels.
- This group of patients was diagnosed with PEHO-like syndrome.
Antenatal diagnosis Prenatal diagnosis is not available but early diagnosis is essential for genetic counseling of affected families.
Treatment[edit | edit source]
Treatment is symptomatic only. The infantile spasms are refractory to antiepileptic drugs or adrenocorticotropic hormone (ACTH) therapy.
References[edit | edit source]
- ↑ OMIM Entry - # 260565 - PEHO SYNDROME; PEHO Full text, omim.org,
- ↑ , Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome, Neuropediatrics, Vol. 33(Issue: 2), pp. 100–4, 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, 2004, Vol. 8(Issue: 6), pp. 317–21, 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, Vol. 122A(Issue: 1), pp. 6–12, DOI: 10.1002/ajmg.a.20216, PMID: 12949965,
- ↑ 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
- ↑ 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
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
|
_(14784117803).jpg){kind=small}
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju
