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A case of stroke in a patient with Down Syndrome associated with Moyamoya Syndrome

RESUMO

CASE REPORT
A patient with a previous diagnosis of Down Syndrome (DS) was sent to a stroke referral
hospital ten days after a stroke. At the initial neurological examination, he manifested a state
of alertness, in addition to being uncooperative, aphasic, and unresponsive to commands.
He presented facial paralysis, hemiparesis, and hypoesthesia on the left, indicating a
suspected cerebral infarction. A Cranial Computed Tomography (CT) showed hypodensity in
the right middle cerebral artery (MCA) and Ecass 1 transformations. Due to the ictus having
occurred ten days before admission, the approach remained conservative at the subacute
stroke division. On CT angiography, there were occlusions in M1 segments of MCA and
Moyamoya pattern, manifested by stenosis of the left internal carotid artery and apparent
hypertrophy of the collateral lenticulostriate arteries. The patient evolved clinically and
hemodynamically stable, but still alert, uncooperative, and aphasic. After discussion with a
neurologist, the patient was discharged from the hospital with follow-up care in health
services.

DISCUSSION
Moyamoya disease represents an arteriopathy with stenosis in segments of the internal
carotid arteries, with hypertrophy of collateral vessels. Former characterized as an idiopathic
condition, it's now associated with genetic disorders and a higher risk of cerebral infarction,
which is relevant in this case report, due to the aggravating factor related to DS. Such an
etiological correlation for arteriopathy resides in the fact that the gene for the alpha chain of
collagen VI is located on chromosome 21, as well as the genes of other proteins that
interfere with arterial physiology. Moyamoya diagnosis in patients with DS occurs at an
average age of 9.7 years. The previous diagnosis helps avoid the commonly observed
course of recurrent stroke. Anticoagulant preventive measures can also be implemented to
reduce complications. In the report, the patient with DS did not receive follow-up care by
health professionals until the age of 31, when he presented with the acute condition of
arteriopathy that culminated in stroke, revealing the risks of late observation of the disease.

FINAL CONSIDERATIONS
Due the evidence of severe conditions after the correlation between Down Syndrome, Moyamoya disease and the reported stroke, the greater dissemination of knowledge associated with the case is essential to health professionals is necessary to define the appropriate conduct and treatment.