Angiopatía amiloidea cerebral, hemorragias cerebrales de repetición y síndrome de Down / Cerebral amyloid angiopathy, recurrent intracerebral haemorrhages and Down's syndrome

Los pacientes con síndrome de Down en la edad media de la vida desarrollan demencia con cambios anatomopatológicos propios de la enfermedad de Alzheimer. La angiopatía amiloidea cerebral (AAC) puede manifestarse por hemorragias intracerebrales de localización lobular, únicas o múltiples, simultáneas o de repetición. La AAC se asocia frecuentemente con la enfermedad de Alzheimer. Sin embargo, la relación entre AAC y síndrome de Down es poco conocida. Aunque existen unos criterios diagnósticos de AAC relacionada con hemorragia intracerebral lobular, en la actualidad el diagnóstico definitivo de esta entidad es anatomopatológico. Aportamos el caso de un varón con síndrome de Down y hemorragias intracerebrales lobulares de repetición que en el estudio post mortem mostró alteraciones en los vasos leptomeníngeos y corticales características de AAC, así como cambios anatomopatológicos compatibles con enfermedad de Alzheimer que afectaban especialmente a la corteza entorrinal e hipocampo. Se discute la relación patogénica entre la proteína ²-amiloide, los alelos de la APOE, la AAC, la enfermedad de Alzheimer y el síndrome de Down (AU)

Middle-age Down's syndrome patients develop dementia with antomicopathological changes that are characteristic for Alzheimer's disease. Cerebral amyolid angiopathy (CAA) most commonly manifests itself as a lobar intracerebral haemorrhage that tends to recur. Multiple haemorrhages may occur simultaneously. CAA is frequently associated with Alzheimer's disease, however the relationship between CCA and Down's syndrome is poorly know. Although there are established clinical criteria for the diagnosis of CAA related to lobar intracerebral haemorrhage, definitive CAA needs anatomicopathologial confirmation. This paper presents the case of a male with Down's syndrome and recurrent lobar intracerebral haemorrhage. An autopsy showed lesions in leptomeningeal and cortical arteries which are characteristic of CAA in addition to anatomicopathological changes of Alzheimer s disease that were mostly seen in entorhinal cortex and hippocampus. The paper also discusses the pathological association between beta-amyloid protein, apolipoprotein alleles, CAA, Alzheimer's disease and Down's syndrome (AU)

[Cerebral amyloid angiopathy, recurrent intracerebral haemorrhages and Down's syndrome]. / Angiopatía amiloidea cerebral, hemorragias cerebrales de repetición y síndrome de Down.

Middle-age Down's syndrome patients develop dementia with antomicopathological changes that are characteristic for Alzheimer's disease. Cerebral amyolid angiopathy (CAA) most commonly manifests itself as a lobar intracerebral haemorrhage that tends to recur. Multiple haemorrhages may occur simultaneously. CAA is frequently associated with Alzheimer's disease, however the relationship between CCA and Down's syndrome is poorly know. Although there are established clinical criteria for the diagnosis of CAA related to lobar intracerebral haemorrhage, definitive CAA needs anatomicopathologial confirmation. This paper presents the case of a male with Down's syndrome and recurrent lobar intracerebral haemorrhage. An autopsy showed lesions in leptomeningeal and cortical arteries which are characteristic of CAA in addition to anatomicopathological changes of Alzheimer s disease that were mostly seen in entorhinal cortex and hippocampus. The paper also discusses the pathological association between beta-amyloid protein, apolipoprotein alleles, CAA, Alzheimer's disease and Down's syndrome.