Pontine autosomal dominant microangiopathy with leukoencephalopathy

Orpha code: 477749OMIM code: 618564

Definition

A rare genetic cerebral small vessel disease characterized by recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres.

Disease data
Classification

Disease

Synonyms
PADMAL
PADMAL
ORPHA code
477749
OMIM code
618564
ICD10 code
I67.8
ICD11 code
-

No additional description.

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