Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?

Gururaj, Aithala; Hardy, Denis; Sztriha, László; Roos, Andreas; Nork, Michael

doi:10.1016/s0387-7604(02)00075-x

Cited by 18 publications

(8 citation statements)

References 12 publications

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“…30 One report suggests that protein C deficiency among children with Down syndrome leads to thromboembolism and recurrent strokes. 57 Protein C deficiencies were not investigated systematically in our patient series, however. One patient in our series (patient 16) became symptomatic after starting treatment with an oral contraceptive, a known risk factor for stroke in many patient populations and a medication specifically contraindicated for patients with moyamoya syndrome.…”

Section: Mechanisms Of Pathogenesismentioning

confidence: 99%

Moyamoya Syndrome Associated With Down Syndrome: Outcome After Surgical Revascularization

Jea¹,

Smith²,

Robertson

et al. 2005

Pediatrics

136

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ABSTRACT. 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 thi...

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Section: Mechanisms Of Pathogenesismentioning

confidence: 99%

Moyamoya Syndrome Associated With Down Syndrome: Outcome After Surgical Revascularization

Jea¹,

Smith²,

Robertson

et al. 2005

Pediatrics

136

View full text Add to dashboard Cite

show abstract

“…In respect of the molecular basis, several proteins associated with the increased risk for vascular disease, such as alpha chains of collagen type VI, superoxide dismutase I, interferon gamma receptor and cystathionine beta synthase, are encoded on chromosome 216-9). Autoimmunity and protein C deficiency has also been postulated as other possible mechanisms associated with Down syndrome and moyamoya syndrome10,11). In our case, however, the work-ups for autoimmune and hypercoagulation disorders were all negative.…”

Section: Discussionmentioning

confidence: 56%

“…It is different from moyamoya disease in that moyamoya syndrome occurs secondary to a variety of slow progressive, occlusive cerebral vasculopathies and genetic syndromes, such as sickle cell disease, postradiation vasculopathy, Down syndrome, neurofibromatosis, and Williams syndrome2). The exact mechanism of vascular occlusion in Down syndrome with moyamoya syndrome is unknown, although several hypotheses have been proposed6-11). Patients with Down syndrome are generally predisposed to vascular abnormalities, such as abnormal nailbed capillary morphology, high pulmonary vascular resistance with congenital heart disease, abnormalities of retinal vessels and primary intimal fibroplasias6).…”

Section: Discussionmentioning

confidence: 99%

Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome

Lee

Weon

2013

Korean J Pediatr

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Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down syndrome with multiple neurologic conditions is rare. Here, we have reported a case of Down syndrome in a 10-year-old girl who presented with asymptomatic moyamoya syndrome, atlantoaxial subluxation with spinal cord compression, and basal ganglia calcification. To the best of our knowledge, this is the first report of Down syndrome, in a child, which was accompanied by these 3 neurologic complications simultaneously. As seen in this case, patients with Down syndrome may have neurologic conditions without any obvious neurologic symptoms; hence, patients with Down syndrome should be carefully examined for the presence of neurologic conditions.

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“…It has been suggested that there may be some hypercoagulable state possibly related to protein C deficiency in some Down patients that may be related to the development of moyamoya or other vascular occlusions [6,7]. Alternatively, it has been suggested that an autoimmune problem may develop in some Down patients predisposing them to moyamoya development [8].…”

Section: Discussionmentioning

confidence: 99%

Moyamoya Associated with Down Syndrome: Management Strategies

Nussbaum¹,

Graupman²,

Nussbaum³

2013

Cureus

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Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?

Cited by 18 publications

References 12 publications

Moyamoya Syndrome Associated With Down Syndrome: Outcome After Surgical Revascularization

Moyamoya Syndrome Associated With Down Syndrome: Outcome After Surgical Revascularization

Asymptomatic moyamoya syndrome, atlantoaxial subluxation and basal ganglia calcification in a child with Down syndrome

Moyamoya Associated with Down Syndrome: Management Strategies

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