Acute encephalopathy with biphasic seizures and late reduced diffusion

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Overview

Acute encephalopathy with biphasic seizures and late reduced diffusion, often called AESD, is a rare brain condition that mainly affects young children, most commonly between 6 months and 4 years of age. It typically begins during a fever or viral infection, when a child suddenly develops prolonged seizures. After the initial seizures, the child may seem to improve for a few days, but then a second round of seizures occurs, usually around days 3 to 7 of the illness. During this second phase, brain MRI scans show a characteristic pattern called "reduced diffusion" in specific areas of the brain, particularly the white matter just under the cortex. This pattern helps doctors distinguish AESD from other types of childhood brain injury caused by fever or infection. The condition can lead to a range of outcomes. Some children recover well with only mild effects, while others may develop intellectual disability, epilepsy, or movement problems. The severity depends on how much brain tissue is affected. Treatment is mainly supportive, focusing on controlling seizures, reducing brain swelling, and managing the underlying infection. There is no specific cure for AESD. Researchers are studying ways to protect the brain during the critical early phase, including cooling therapy and certain medications, but no treatment has been proven to prevent the second phase of injury. Early recognition and prompt medical care are essential to give children the best chance of a good outcome.

Also known as:

Key symptoms:

Prolonged seizures during a feverLoss of consciousness or reduced awarenessA second cluster of seizures several days after the firstConfusion or altered mental state between seizure episodesWeakness on one or both sides of the bodyDifficulty speaking or understanding languageIntellectual disability or learning difficulties after recoveryMovement problems such as involuntary movements or poor coordinationEpilepsy developing after the acute illnessBehavioral changesDifficulty with fine motor skillsSwallowing difficulties in severe cases

Clinical phenotype terms (12)— hover any for plain English
Hypointensity of cerebral white matter on MRIHP:0007103Loss of consciousnessHP:0007185Complex febrile seizureHP:0011172Abnormal metabolic brain imaging by MRSHP:0012705Severe viral infectionHP:0031691Increased circulating procalcitonin concentrationHP:0032308Seizure precipitated by febrile infectionHP:0032894Seizure clusterHP:0033349Uncontrolled eye movementsHP:0007738Status epilepticus without prominent motor symptomsHP:0031475Takotsubo cardiomyopathyHP:0011665
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
Jul 2017

Endari: FDA approved

To reduce the acute complications of sickle cell disease in adult and pediatric patients 5 years of age and older.

FDAcompleted
Feb 2005

Ammonul: FDA approved

Adjunctive therapy in the treatment of acute hyperammonemia and associated encephalopathy in patients with deficiencies in enzymes of the urea cycle.

FDAcompleted

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Acute encephalopathy with biphasic seizures and late reduced diffusion.

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No actively recruiting trials found for Acute encephalopathy with biphasic seizures and late reduced diffusion at this time.

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No specialists are currently listed for Acute encephalopathy with biphasic seizures and late reduced diffusion.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Financial Resources

1 resources

Ammonul

Medicis Pharmaceutical Corp.

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Travel Grants

No travel grants are currently matched to Acute encephalopathy with biphasic seizures and late reduced diffusion.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the brain injury shown on my child's MRI, and what does this mean for their recovery?,What treatments are being used to protect my child's brain during this acute phase?,Will my child need long-term anti-seizure medication, and what are the side effects?,What developmental or learning challenges should I watch for as my child grows?,Should my child have genetic testing to look for risk factors, and would this affect treatment?,What rehabilitation services (physical therapy, speech therapy, occupational therapy) does my child need?,What should I do if my child has another seizure or develops a fever in the future?

Common questions about Acute encephalopathy with biphasic seizures and late reduced diffusion

What is Acute encephalopathy with biphasic seizures and late reduced diffusion?

Acute encephalopathy with biphasic seizures and late reduced diffusion, often called AESD, is a rare brain condition that mainly affects young children, most commonly between 6 months and 4 years of age. It typically begins during a fever or viral infection, when a child suddenly develops prolonged seizures. After the initial seizures, the child may seem to improve for a few days, but then a second round of seizures occurs, usually around days 3 to 7 of the illness. During this second phase, brain MRI scans show a characteristic pattern called "reduced diffusion" in specific areas of the brain

How is Acute encephalopathy with biphasic seizures and late reduced diffusion inherited?

Acute encephalopathy with biphasic seizures and late reduced diffusion follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Acute encephalopathy with biphasic seizures and late reduced diffusion typically begin?

Typical onset of Acute encephalopathy with biphasic seizures and late reduced diffusion is infantile. Age of onset can vary across affected individuals.

What treatment and support options exist for Acute encephalopathy with biphasic seizures and late reduced diffusion?

1 patient support program are currently tracked on UniteRare for Acute encephalopathy with biphasic seizures and late reduced diffusion. See the treatments and support programs sections for copay assistance, eligibility, and contact details.