Orphanet: Familial acute necrotizing encephalopathy

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Familial acute necrotizing encephalopathy

Disease definition

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

ORPHA:88619

Classification level: Disorder

Synonym(s):
- ADANE
- Recurrent acute necrotizing encephalopathy
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Childhood, Adolescent, Adult
ICD-10: G93.4
OMIM: 608033
UMLS: C4509836
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

It has been described in 11 members of one family.

Clinical description

Onset occurs during early childhood, typically a few days after a febrile illness. Manifestations include vomiting, seizures, spasticity, language regression, rigidity and abnormal posturing of the head. Residual neurologic impairment (muscle weakness, speech disturbance, intellectual deficit and mood disorders) persists in some patients. The disease is chronic in one out of two cases.

Genetic counseling

The mode of transmission appears to be autosomal dominant with incomplete penetrance.

- Last update: September 2007

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Familial acute necrotizing encephalopathy

ORPHA:88619

Summary

Epidemiology

Clinical description

Genetic counseling

A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Disease review articles

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

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