Living with PEHO-like syndrome
A rare inherited brain condition starting in infancy, with seizures, swelling, very low muscle tone, and stalled development.
Understanding PEHO-like syndrome
Babies have seizures early in life, swelling of the face and limbs (edema), very low muscle tone, and early arrest of development. Certain facial features are also seen. The brain condition gets worse over time. Poor visual response and slow growth have been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Very low muscle tone (hypotonia)
- Profound intellectual disability
- Little or no speech
- Swelling of the limbs and face (edema)
- Feeding difficulties
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, genetic specialists, seizure and epilepsy specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in CCDC88A 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); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist); Skin, hair, and nail specialists (dermatologists)
- 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 CCDC88A gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: peho syndrome-like; pehol (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome; progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like 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-like syndrome.
Explore research for PEHO-like syndrome
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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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