Familial Acute Necrotizing Encephalopathy

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

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.