PEHO syndrome

PEHO syndrome
Synonyms	Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
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Symptoms
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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 .<ref name="pmid12075493">,

 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,</ref><ref name="pmid15542387">, 
 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,</ref>

It has been suggested that it may also be present in Australian and American populations.<ref name="pmid12949965">,

 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,</ref>

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.<ref name=Anttonen2017>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 </ref> 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. <ref>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</ref>

Diagnosis

• 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

Treatment is symptomatic only. The infantile spasms are refractory to antiepileptic drugs or adrenocorticotropic hormone (ACTH) therapy.

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