Living with PEHO syndrome
A rare brain condition starting in infancy with swelling, seizures, low muscle tone, and vision nerve changes.
Understanding PEHO syndrome
PEHO stands for progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy. In plain terms, it involves worsening brain function, swelling, a seizure pattern called infantile spasms, and damage to the vision nerve. Babies also have low muscle tone and a small part of the brain (the cerebellum) that shrinks. Signs begin in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Low muscle tone in infancy
- Infantile spasms (a type of seizure)
- Shrinking of the cerebellum (cerebellar atrophy)
- Small head (microcephaly)
- Swelling in the feet and legs (edema)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ZNHIT3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ZNHIT3 gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: peho; peho (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome; progressive encephalopathy with edema, hypsarrhythmia and optic atrophy; progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome; progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy; progressive encephalopathy-optic atrophy syndrome
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with PEHO syndrome.
Explore research for PEHO syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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