Infection-induced acute encephalopathy 3

Alternate names

Familial acute necrotizing encephalopathy; ADANE; Recurrent acute necrotizing encephalopathy; Susceptibility to acute infection-induced encephalopathy-3; IIAE3; Autosomal dominant acute necrotizing encephalopathy; Postinfectious acute necrotizing hemorrhagic encephalopathy; Susceptibility to acute necrotizing encephalopathy; Susceptibility to Infection-Induced Acute Encephalopathy 3; ANE1; Acute necrotizing encephalopathy type 1

Definition

Infection-induced acute encephalopathy 3 (IIAE3) is the susceptibility to recurrent acute necrotizing encephalopathy (ANE). ANE refers to the brain lesions that develop within days following the onset of an acute viral illness caused by influenza A, influenza B, parainfluenza II, human herpes virus 6, coxsackie virus, or an enterovirus.

Cause

Mutations in the RANBP2 gene increases the risk for this condition.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Inheritance is autosomal dominant.

Onset

• Although most cases occurs before six years of age, first episodes have been observed in teenagers and adults.
• ANE begins within 12 hours to three or four days of the first viral symptoms.

Signs and symptoms

• Symptoms include fever, cough, congestion, vomiting, and diarrhea in the first few days, followed by neurological problems, such as seizures, hallucinations, difficulty coordinating movements (ataxia), or abnormal muscle tone.
• Most affected individuals go into a coma, which usually lasts for a number of weeks.
• The condition is described as "acute" because the episodes of illness are time-limited.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Acute encephalopathy
• Coma
• Increased CSF protein

30%-79% of people have these symptoms

• Abnormal brainstem MRI signal intensity
• Abnormal pattern of respiration(Abnormal respiratory patterns)
• Abnormal putamen morphology
• Abnormal visual fixation
• Abnormality of thalamus morphology
• Cerebral edema(Swelling of brain)
• Choroid hemorrhage
• Developmental regression(Loss of developmental milestones)
• Dysarthria(Difficulty articulating speech)
• Fever
• Gait disturbance(Abnormal gait)
• Generalized muscle weakness
• Gliosis
• Intellectual disability(Mental deficiency)
• Rigidity(Muscle rigidity)
• Seizure
• Spastic tetraplegia
• Vomiting(Throwing up)

5%-29% of people have these symptoms

• Tetraplegia(Paralysis of all four limbs)

Treatment

• In many cases, treatment involves corticosteroids, as well as immunoglobulin therapy, plasmapheresis, and TNFα antagonists.
• In some cases, treatment is not required.

NIH genetic and rare disease info

• NIH info on Infection-induced acute encephalopathy 3

Infection-induced acute encephalopathy 3 is a rare disease.