CAUSAS RARAS AVC

Question 1

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

Answer 1

V

Question 2

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

Answer 2

V

Question 3

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

Answer 3

V

Question 4

Moyamoya disease can cause
either ischemic or hemorrhagic stroke; revascularization is recommended in some
patients.

Answer 4

V

Question 5

Moyamoya disease can cause
either ischemic or hemorrhagic stroke; revascularization is recommended in some
patients.

Answer 5

Moyamoya disease can cause
either ischemic or hemorrhagic stroke; revascularization is recommended in some
patients.

Question 6

Moyamoya disease can cause
either ischemic or hemorrhagic stroke; revascularization is recommended in some
patients.

Answer 6

V

Question 7

Historically, up to 30% of ischemic
strokes have been considered cryptogenic, without a cause found despite
standard evaluation

Answer 7

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Question 8

Monogenic causes of stroke are felt

to be rare, although their true incidence is unknown because of a lack of epidemiologic data

Answer 8

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Question 9

Five monogenic diseases associated with stroke:

Answer 9

• 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

Question 10

Fabry disease is a multisystemic lysosomal storage disorder

x linkided

Answer 10

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Question 11

Manifestações sistémicas precoces da doença de Fabry ?

Answer 11

• 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.

Question 12

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)

Answer 12

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Question 13

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

Answer 13

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Question 14

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

Answer 14

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Question 15

Doença de Fabry

Answer 15

• The underlying pathophysiological mechanisms of FD are complex and incompletely understood.6
• Early pathophysiological changes are thought to predominantly involve the microvasculature.7

Question 16

The severity of FD manifestations in heterozygous female
patients is complex because of the process of X chromosome
inactivation (XCI). I

Answer 16

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Question 17

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

Answer 17

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Question 18

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

Answer 18

V
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

Question 19

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.

Answer 19

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Question 20

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

Answer 20

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Question 21

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.

Answer 21

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Question 22

A idade media na doença de Fabry é 33 anos para heterozigoticos e 40 anos para heterozigoticos

Answer 22

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Question 23

A adição de ezetemibe na doença de hipercolesterolomenia familiar, não tem efeitos na no endotelio (medido pela espessura endotelial)

Answer 23

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Question 24

Descreva o sinal pulvinar ?

Answer 24

• Aumento da intensidade de T1, no aspeto posterior do talamo

Question 25

Citopatia mitocondrial MELAS

Answer 25

V

Question 26

Homicistenuria carateriza-se pelo aumento significativo do niveis de homocisteina no plasma e na urina

Answer 26

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Question 27

Qual o fenotipo carateristico de um doente com homistenuria

Answer 27

• Atraso mental
• Tromboembolismo
• Anormalidades esqueleticas
• Osteaoporose
• Arterioesclerose prematura

Question 28

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

Answer 28

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Question 29

Niveis elevados de homocisteina, interferem na funçao endotelial

Answer 29

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Question 30

o iato de anos entre o diagnóstico de homocisteunuria e a aparacimento da primeira manifestação clinica é de 13 anos

Answer 30

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Question 31

Doentes com homocistinúria que são responsivos à suplementarção com pirididozina, acido folico e vitamina b12, devem manter a suplementação indefinidamente

Answer 31

v
Doentes que não são responsivos devem fazer uma dieta pobre em metionina e suplementada com cisteina, folato, vitamiba b12

Question 32

MELAS ?

Answer 32

• Mitocondrial encefalopaty
• Lactic acidosis
• Stroke like fenomemos

Question 33

MELAS, é um síndrome que é afetado por disfunção mitocondrial incluindo as seguintes manifestações?

Answer 33

• Encefalopatia, frequentemente com cefaleias e convulsões
• Intolerancia de exercicio fisico (pela acumulação de acidco lactico
• Idade de inicio antes dos 40 anos
• AVC

Question 34

Dentro das doenças mitocondriais o AVC é único MELAS (mitocondrial encefalopatia)

Answer 34

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Question 35

Sao sintomas do MELAS:

Answer 35

• Fraqueza muscular
• Fatigabilidade fácil
• Cefaleias e convulsões recorrentes

Question 36

No sindrome/ doença de MELAS para existir uma predisposição para topografia de AVC posterior com afetação de lobos cerebrais ?

Answer 36

• Parietal
• Temporal
• Occipital

Question 37

No Melas, no TC e RM podemos encontrar calcificações no ganglios da base e e atrofia cortical cerebral

Answer 37

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