Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations
Mustafa A Salih1, Waleed R Murshid, Mussaad M Al-Salman
1Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia. mustafa@ksu.edu.sa
Insights
Moyamoya syndrome is a significant stroke risk in Saudi children. Early diagnosis and comprehensive evaluation are crucial for managing associated hematologic and genetic conditions.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Moyamoya syndrome (MMS) is a rare, progressive cerebrovascular disorder.
- Stroke is a serious complication of MMS, particularly in pediatric populations.
- Understanding MMS associations is vital for risk stratification and management.
Purpose of the Study:
- To identify moyamoya syndrome as a stroke risk factor in Saudi children.
- To describe novel and usual associations of MMS in this cohort.
- To inform diagnostic and management strategies for pediatric stroke.
Main Methods:
- Prospective and retrospective cohort study of 104 children with stroke.
- Clinical evaluation including hemostatic assays, biochemical, and serological tests.
- Neuroimaging techniques such as CT, MRI, MRA, SPECT, and cerebral angiography.
Main Results:
- Moyamoya syndrome was identified as the underlying risk factor for stroke in 6 (5.8%) children.
- Associated conditions included protein C deficiency, protein S deficiency, sickle cell disease, sickle cell-beta-thalassemia, Adams-Oliver syndrome, and wrinkly skin syndrome.
- Novel associations of MMS with protein C deficiency, Adams-Oliver syndrome, and wrinkly skin syndrome were reported.
- Three patients with MMS and associated conditions underwent successful revascularization surgery.
Conclusions:
- Moyamoya syndrome is an important cause of stroke in Saudi children.
- Comprehensive evaluation, including thrombophilia screening and neuroimaging, is essential for diagnosing MMS and associated conditions.
- Early diagnosis and management of MMS and its comorbidities improve patient outcomes and aid genetic counseling.
Objective:
To report on moyamoya syndrome (MMS) as a risk factor for stroke in a prospective and retrospective cohort of Saudi children. The usual and novel associations of MMS in this cohort will also be described.
Methods:
Children with stroke were evaluated at the Division of Pediatric Neurology at King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Investigations for suspected cases included hemostatic assays, biochemical, and serological tests. Neuroimaging included CT, MRI, magnetic resonance angiography (MRA), single photon computerized tomography (SPECT) brain scan and conventional cerebral angiography.
Results:
Moyamoya syndrome was the underlying risk factor for stroke in 6 (5.8%) of the 104 children (aged one month to 12 years). They were 4 females and 2 males. Their first cerebral ischemic event occurred at a mean age of 45 months (median = 44 months, range 17-66 months). In all 6 cases, MMS was associated with an underlying hematologic abnormality or other diseases. Protein C deficiency was identified in one girl and protein S deficiency in another. Two patients had respectively, sickle cell disease (SCD) and sickle cell-beta-thalassemia (S beta-thalassemia), which had been associated in the latter with membranous ventricular septal defect. Adams-Oliver syndrome (AOS, OMIM 100300) was associated with MMS in an 18-month-old girl. A 4-year-old boy had wrinkly skin syndrome (WSS, OMIM 278250) phenotype. The association of MMS and protein C deficiency was first reported in this cohort of patients, whereas the association of the syndrome with WWS and AOS has not, hitherto, been described. The 3 patients who had MMS associated with protein C deficiency, SCD, and AOS underwent successful revascularization surgery in the form of encephaloduroarteriosynangiosis.
Conclusions:
Moyamoya syndrome constitutes an important risk factor of stroke in Saudi children. Comprehensive clinical evaluation and investigations, including screening for thrombophilia and neuroimaging studies, are required for the primary diagnosis of the disease and for unraveling other diseases associated with MMS. This will help in managing these patients and in guiding genetic counseling for their families.
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