Cerebral amyloid angiopathy-related hemorrhage in a middle-aged patient with Down's syndrome

Abstract

A patient with Down's syndrome (DS) died of cerebral hemorrhage at age 52. At autopsy, a large sub-cortical hematoma was present in the right frontal lobe, and microscopic examination showed numerous senile plaques and neurofibrillary tangles in an extensive area of neocortex and also disclosed heavy involvement of vascular walls by amyloid deposition. These senile plaque and vascular amyloid deposits were specifically stained with an antibody to Aβ. His APOE genotype was ϵ4/ϵ4. This is a rare case of DS with cerebral amyloid angiopathy (CAA)-related cerebral hemorrhage. Genetic factors, such as APOE genotype, conceivably determine the risk of vascular rupture in individuals with CAA, even among patients with DS.

Keywords:

• Down's syndrome
• cerebral amyloid angiopathy
• amyloid β protein
• cerebral hemorrhage
• APOE genotype

Abbreviations
DS	=	Down's syndrome
AD	=	Alzheimer's disease
CAA	=	cerebral amyloid angiopathy
Aβ	=	amyloid β protein
APOE	=	apolipoprotein E

Abbreviations
DS	=	Down's syndrome
AD	=	Alzheimer's disease
CAA	=	cerebral amyloid angiopathy
Aβ	=	amyloid β protein
APOE	=	apolipoprotein E