We report the case of a 7-year-old girl with DS, without congenital heart disease or relevant perinatal history.
She had type 47X+21 karyotype, hypothyroidism and laryngomalacia.
Her mother reported no history of headaches or epilepsy.
She regularly attended a differential education school and was self-reliant in activities of daily living at 5 years of age, was admitted to the pediatric ICU for quali-quantitative impairment of consciousness, aphasia, hemiparesis.
Physical examination revealed dysmorphic features of DS, superficial sweating with response to verbal stimuli and aphasia.
Neurological examination revealed normal eye fundus, obvious facial palsy of central origin and right hemiparesis.
Cardiovascular examination was normal, with no carotid murmurs and normal peripheral pulses.
Cardiac ultrasound was normal.
Computed tomography (CT) of the brain showed recent infarction in radiated corona and left frontal cortex, which was corroborated by MRI, which also showed old supratentorial bilateral frontoparietal infarcts in multiple bordering areas.
Magnetic resonance angiography showed stenosing and irregular lesions in the MI segments and alterations in the wall of segments Pl and P2, where there were bilateral stenoses and irregular dilations.
In the carotid siphons irregular caliber and distal stenosis were observed.
Finally, digital subtraction angiography showed the presence of moyamoya-type cerebral arteriopathy, greater on the left side.
1.
Screening for autoimmune diseases was negative.
Thrombolysis showed a low antithrombin III function than normal.
The value at six months remained altered (67%), considering the age-adjusted normal range between 76% and 113%.
The patient recovered motor deficit and was discharged with platelet therapy (aspirin 3 mg/kg/day) prior to surgery for revascularization.
After one month of follow-up, the patient presented only mild central facial paresis, with normal gait and mental status similar to baseline.
She returned to her school.
The control with neuroimaging at 3 months showed an increase in arterial stenosis and the appearance of new silent microinfarctions.
While waiting for surgery she presented severe sepsis of respiratory focus, so she was hospitalized again.
In this context, she presented a seizure of the left hemibody with neuroimaging that reported a new infarction in the territory corresponding to the anterior branch of the right MCA.
During hospitalization, the patient had a poor outcome, requiring vasoactive drugs due to mood instability.
She underwent gastrostomy and presented multiple postoperative complications.
The patient also presented high blood pressure (BP), which was difficult to manage.
In the study, renal CT angiography showed no pathological findings.
Holter monitoring showed a correlation between BP elevation and periods of stress.
Previous brain MRI showed extensive sequelae of infarction with large cortical zones and gliosis.
She was discharged in a state of minimal consciousness, and with home hospitalization regime.
