Living with Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
A rare condition in infants where brain and nervous system function can decline quickly, often after a fever.
Understanding Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
GARD describes rapid decline in brain and nervous system function, often set off by an illness with fever. A child may lose skills they had gained, such as movement. Brain and spinal cord scans may show swelling, changes in the white matter, or shrinking of brain tissue. Skin blisters have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loss of skills already learned (developmental regression)
- Low muscle tone (hypotonia)
- Poor balance and coordination (ataxia)
- Fast, rhythmic eye movements (nystagmus)
- Swelling of the brain (cerebral edema)
- Trouble breathing (respiratory failure)
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 and genetic specialists.
- 3Consider genetic testing
Changes in NAXE are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 NAXE 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: apolipoprotein a-i binding protein deficiency; nad(p)hx epimerase deficiency; pebel1
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
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