CAUSAS RARAS AVC Flashcards
Fabry disease should be considered when evaluating stroke in the young, particularly if the posterior circulation is involved and the patient has a family history of stroke
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Fabry disease should be considered when evaluating stroke in the young, particularly if the posterior circulation is involved and the patient has a family history of stroke
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Fabry disease should be considered when evaluating stroke in the young, particularly if the posterior circulation is involved and the patient has a family history of stroke
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Moyamoya disease can cause
either ischemic or hemorrhagic stroke; revascularization is recommended in some
patients.
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Moyamoya disease can cause
either ischemic or hemorrhagic stroke; revascularization is recommended in some
patients.
Moyamoya disease can cause
either ischemic or hemorrhagic stroke; revascularization is recommended in some
patients.
Moyamoya disease can cause
either ischemic or hemorrhagic stroke; revascularization is recommended in some
patients.
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Historically, up to 30% of ischemic
strokes have been considered cryptogenic, without a cause found despite
standard evaluation
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Monogenic causes of stroke are felt
to be rare, although their true incidence is unknown because of a lack of epidemiologic data
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Five monogenic diseases associated with stroke:
- Fabry disease
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
- Mitochondrial encephalomyopathy
- Lactic acidosis,
- Strokelike episodes (MELAS)
- Hereditary cerebral amyloid angiopathy
- Marfan syndrome
Fabry disease is a multisystemic lysosomal storage disorder
x linkided
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Manifestações sistémicas precoces da doença de Fabry ?
- Acroparesthesia
- Angiokeratomas (clustered in the bathing trunk area and lips)
- Corneal dystrophy
- Hypohidrosis
- Renal impairment
- Cardiac conduction disturbances
- Cardiomyopathy
Central
nervous system (CNS) complications
developing later in life.
The neurovascular manifestations of Fabry disease include early-onset ischemic stroke, often in the posterior circulation; dilatation of the vertebrobasilar vessels up to extensive dolichoectasia; and leukoaraiosis (white matter hyperintensities seen on T2- weighted brain MRI sequences and thought to represent cerebral small vessel disease)
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Although hyperintensity in the pulvinar region on T1-weighted MRI sequences has been considered pathognomonic for Fabry disease, it is only found in a minority of patients, with lower frequency in women than men and in those with early versus late disease
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Na doença de Fabry - The leukoaraiosis can be extensive but also
increases with disease duration, so it
may not be present in young patients
with stroke
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Doença de Fabry
- The underlying pathophysiological mechanisms of FD are complex and incompletely understood.6
- Early pathophysiological changes are thought to predominantly involve the microvasculature.7
The severity of FD manifestations in heterozygous female
patients is complex because of the process of X chromosome
inactivation (XCI). I
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Several modifiable, lifestyle-related factors are likely to
increase the risk of stroke in Fabry patients, as in the general population. These factors include smoking, obesity, lack
of physical exercise, dyslipidemia, and arterial hypertension
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In patients with FABRY DISEADE, stroke occurs in both the anterior and the
posterior circulatory systems, as well as in cortical and subcortical locations. However, the mechanism and topography of stroke
in FD have not been systematically studied because of the fact
that the evaluation of FD has been focused on patients with cryptogenic stroke rather than all types of stroke
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Because patients
with FD can have large artery disease and arrhythmia as a result
of cardiomyopathy, the observed pattern of infarcts in descriptive
studies may not reflect the true topography of infarcts in FD
A significantly enlarged basilar artery diameter has been
reported in patients with FD (compared with the general
population),70 the cause of which is postulated to be insufficient autoregulation leading to aberrant vascular remodeling.
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Recently, the basilar artery diameter was confirmed to be significantly increased in male patients with FD
when compared with healthy controls.71 Furthermore, a recent
study of 70 Fabry patients suggested that vertebrobasilar dolichoectasia could serve as an early marker of neurovascular
involvement, as it was present in 56% of men and 35% of Recently, the basilar artery diameter was confirmed to be significantly increased in male patients with FD
when compared with healthy controls.71 Furthermore, a recent
study of 70 Fabry patients suggested that vertebrobasilar dolichoectasia could serve as an early marker of neurovascular
involvement, as it was present in 56% of men and 35% of
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WMH.6,68
Other factors, which affect constant blood flow and organ
perfusion in patients with FD, include abnormal autonomic
cardiac and vascular modulation responses to instantaneously occurring cardiovascular challenges, such as orthostasis. Furthermore, small fiber neuropathy in Fabry patients
adversely affects sympathetic modulation of skin blood
flow,112 also leading to altered perfusion rates in limbs and
peripheral circulation.
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A idade media na doença de Fabry é 33 anos para heterozigoticos e 40 anos para heterozigoticos
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A adição de ezetemibe na doença de hipercolesterolomenia familiar, não tem efeitos na no endotelio (medido pela espessura endotelial)
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Descreva o sinal pulvinar ?
- Aumento da intensidade de T1, no aspeto posterior do talamo
Citopatia mitocondrial MELAS
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Homicistenuria carateriza-se pelo aumento significativo do niveis de homocisteina no plasma e na urina
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Qual o fenotipo carateristico de um doente com homistenuria
- Atraso mental
- Tromboembolismo
- Anormalidades esqueleticas
- Osteaoporose
- Arterioesclerose prematura
As primeiras manifestações clinicas da homocistenuria ocorrem em media em torno dos 13 anos, a primeira apresentaçao pode ser o tromboembolismo, sendo raro a sua apresentaçao isolada sem outras manifestações clinicas associadas
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Niveis elevados de homocisteina, interferem na funçao endotelial
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o iato de anos entre o diagnóstico de homocisteunuria e a aparacimento da primeira manifestação clinica é de 13 anos
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Doentes com homocistinúria que são responsivos à suplementarção com pirididozina, acido folico e vitamina b12, devem manter a suplementação indefinidamente
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Doentes que não são responsivos devem fazer uma dieta pobre em metionina e suplementada com cisteina, folato, vitamiba b12
MELAS ?
- Mitocondrial encefalopaty
- Lactic acidosis
- Stroke like fenomemos
MELAS, é um síndrome que é afetado por disfunção mitocondrial incluindo as seguintes manifestações?
- Encefalopatia, frequentemente com cefaleias e convulsões
- Intolerancia de exercicio fisico (pela acumulação de acidco lactico
- Idade de inicio antes dos 40 anos
- AVC
Dentro das doenças mitocondriais o AVC é único MELAS (mitocondrial encefalopatia)
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Sao sintomas do MELAS:
- Fraqueza muscular
- Fatigabilidade fácil
- Cefaleias e convulsões recorrentes
No sindrome/ doença de MELAS para existir uma predisposição para topografia de AVC posterior com afetação de lobos cerebrais ?
- Parietal
- Temporal
- Occipital
No Melas, no TC e RM podemos encontrar calcificações no ganglios da base e e atrofia cortical cerebral
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