Objectives. This study was undertaken to describe the clinical, radiologic, and angiographic features of moyamoya syndrome in a surgical series of children and adults with Down syndrome. We wished to define the features of moyamoya syndrome associated with Down syndrome and to determine the results of surgical revascularization among these patients at early and late follow-up times. Methods. We reviewed the clinical, radiologic, and angiographic records of all patients with moyamoya syndrome associated with Down syndrome, as a subset of a previously reported, consecutive series of patients who underwent cerebral revascularization surgery with a standardized surgical procedure, pial synangiosis, between January 1, 1985, and June 30, 2004. Results. Of 181 patients with moyamoya syndrome from the initial series who were treated surgically during the study period, 16 patients had Down syndrome (10 female patients and 6 male patients). The average age at onset was 9.3 years (range: 1–29 years); the average age at the time of surgery was 9.8 years (range: 2–29 years). Although the presenting symptoms were transient ischemic attacks for 10 patients and strokes for 6 patients, computed tomographic and/or MRI scans demonstrated bilateral infarctions for 9 patients and unilateral infarctions for 6, with only 1 patient having no imaging evidence of a previous stroke. No cases presented with intracerebral hemorrhage. Preoperative angiography showed the presence of bilateral moyamoya syndrome changes for all patients, including posterior circulation involvement for 8 patients. Surgical treatment included pial synangiosis for all patients, although 1 patient underwent a superficial temporal artery-middle cerebral artery bypass in the contralateral hemisphere. Surgical complications included symptomatic subdural hematomas requiring evacuation, at 48 days and 54 days postoperatively (2 cases), seizures (2 cases), and strokes within 30 days after surgery, at 1 day and 7 days postoperatively (2 cases). Late clinical and radiologic follow-up data (average: 67.6 months; range: 6–146 months) demonstrated no worsening in neurologic status for any patient except for 1 patient who developed a seizure disorder with associated chronic hypocalcemia; she was totally dependent at the 10-year follow-up evaluation, despite no evidence of new infarction since her surgery. There was no clinical or radiologic evidence of new infarction for any patient in late follow-up evaluations. Postoperative angiography, conducted 1 year after surgery for 11 patients, revealed radiologic evidence of good to excellent cerebral revascularization in 85% of the surgically treated hemispheres. Patients were maintained on lifetime aspirin therapy. Conclusions. The clinical, radiologic, and angiographic features of moyamoya syndrome associated with Down syndrome seem comparable to those of primary moyamoya disease. Cerebral revascularization surgery with the pial synangiosis technique seems to confer long-lasting protection against additional strokes in this patient population. The presence of moyamoya syndrome should be considered in the evaluation of patients with Down syndrome who present with transient ischemic attack-like symptoms.

https://pediatrics.aappublications.org/content/pediatrics/116/5/e694.full.pdf

Moyamoya Syndrome Associated With Down Syndrome: Outcome After Surgical Revascularization

The neuropathologic abnormalities associated with Prader-Willi syndrome (PWS) are largely unknown. PWS is due to the loss of several paternally expressed genes in chromosome 15q11-q13 region. Several of the imprinted genes in the 15q11-q13 region are normally expressed in the brain and thought to be necessary for neuronal growth and development. Thus, we hypothesized that we would find abnormalities in gray and white matter growth in individuals with PWS. We evaluated three-dimensional (3-D) MRI scans of 20 individuals with PWS, aged three months to 39 years, and compared them to 3-D MRI scans of 21 normal weight sibling controls and 16 individuals with early-onset morbid obesity (EMO) of unknown etiology. The interpreters of the scans were blinded to the diagnosis of the subjects. Intracranial abnormalities in individuals with PWS included ventriculomegaly (100% of individuals), decreased volume of brain tissue in the parietal-occipital lobe (50%), sylvian fissure polymicrogyria (60%), and incomplete insular closure (65%). None of the EMO or normal weight control subjects had any of these findings. We found multiple morphologic brain abnormalities in subjects with PWS suggesting that the loss of paternally expressed genes in chromosome 15q11-q13 region may result in abnormalities of neuronal development. The specific mechanisms underlying these neuropathological abnormalities and their correlation with the clinical phenotype remain to be elucidated.

Intracranial abnormalities detected by three-dimensional magnetic resonance imaging in Prader-Willi syndrome.

Pediatric Moyamoya disease is rarely associated with intracranial aneurysms. We report a case of a 7-year-old girl with an antecedent of persistent craniopharyngeal canal, who presented with a history of choreiform movements. A Moyamoya disease was found with an unruptured left middle cerebral artery aneurysm on her first angiography. Conservative treatment was chosen for the aneurysm and she underwent indirect revascularization by encephalosynangiosis using the multiple bur-hole technique for her Moyamoya disease. Abnormal movements were improved. Control angiogram at 6 months showed development of intracranial–extracranial anastomoses with complete resolution of the aneurysm. Aneuryms including the major arteries of the basal arterial circle occur as a by-product of the high velocity and blood flow secondary to the arterial stenosis. Blood flow modification after revascularization often lead to spontaneous regression and disappearance of these aneurysms. Therefore, a conservative treatment of these proximal aneurysms must be chosen after encephalosynangiosis.

Disappearance of a middle cerebral artery aneurysm associated with Moyamoya syndrome after revascularization in a child: case report

Aim To summarize the reported rates of magnetic resonance imaging (MRI) abnormalities in children with isolated global developmental delay (GDD) or intellectual disability (ID). Method A literature search was conducted using electronic databases for studies reporting the rate of MRI abnormalities in children with clinically diagnosed ID or GDD and no other neurological signs, symptoms, or previously determined aetiology. All investigations with participants from birth to 18 years were considered. Study quality was evaluated using the Joanna Briggs Institute Meta-Analysis of Statistics Assessment and Review Instrument (MAStARI) critical appraisal checklist items. Results Eighteen cross sectional, and 11 case-controlled studies adhered to inclusion criteria. Reported rates of abnormalities ranged from 0% to 98%. When all subjects with developmental delay from all papers were considered (n = 2299) the total percentage found to have abnormalities was 38%. Abnormalities led to an etiological diagnosis for delay in 7.9% of cases. Interpretation Definitions of abnormalities varied widely between studies, and drastically different rates of abnormalities are reported. Currently available evidence is not of sufficient quality to make firm recommendations on the use of neuroimaging in ID or GDD but MRI should be considered for children that do not have a diagnosis after thorough clinical evaluation.

Systematic review of MRI findings in children with developmental delay or cognitive impairment

Down syndrome (DS), resulting from trisomy 21, is a common cause of mental retardation. Around 20,000 babies with DS are born every year in India. There is an increased risk of cerebral infarction in children with DS, the common causes being thromboembolism secondary to atrioventricular canal defects, right-to-left shunting, myocardial dysmotility, or cardiac valvular abnormalities. Stroke due to other causes can also occur in patients with DS, and one of these is moyamoya disease. This can be diagnosed by magnetic resonance imaging and/or angiography in these patients. Here we report four cases of moyamoya disease in young patients with DS aged 2-3½ years, of a total of 500 cases with DS registered in the Genetic Clinic.

Down syndrome with moyamoya disease: A case series

We present a case of a six-year-old girl with Down Syndrom who developed recurrent ischemic strokes. Cerebral angiography demonstrated a supraclinoid stenosis of the right internal artery, an occlusion of the left supraclinoid internal cerebral artery and dilated collateral vessels, consistent with Moyamoya disease. We emphasize the increased frequency of Moyamoya in patients with Down Syndrome and also the most important pathophysiologic, clinical and radiological findings of this disease.

Moyamoya associated with Down syndrome

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Iconography : IMAGERIE PAR RÉSONANCE MAGNÉTIQUE DU RETARD MENTAL NON SPÉCIFIQUE

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Moyamoya associated with Down syndrome

Imagerie par résonance magnétique du retard mental non spécifique

Iconography : IMAGERIE PAR RÉSONANCE MAGNÉTIQUE DU RETARD MENTAL NON SPÉCIFIQUE