Last modified: 2018-09-09
Abstract
Aims and Objectives:
Moyamoya disease [MMD] is a chronic occlusive disease of bilateral terminal internal carotid arteries with abnormal vascular growth at the base of the brain. When associated with other systemic disorders or when disease is unilateral it is called moyamoya syndrome [MMS]. This study aims to evaluate diseases associated with moyamoya phenomenon.
Design:
Patients from 2006 to 2017 were reviewed retrospectively. All patients less than 18 years with findings of moyamoya disease were evaluated extensively clinically and with imaging, cardiac evaluation, blood and CSF examination.
Results:
A total of 21 patients [F/M:6/15] were diagnosed as MMS out of 211 patients with moyamoya phenomenon[9%]. Eight patients had predominantly unilateral involvement. 4/21 patients had autoimmune disease, ANA+ with antiphospholipid syndrome(2), systemic vasculitis(1), pernicious anemia(1). Two patients had thrombophilic states, Activated ProteinC deficiency(1), elevated factor8(1). 5/20 patients had neurocutaneuous syndrome, neurofibromatosis(3), tuberous sclerosis(1) and phakomatosis pigmentokerotica(1). Hemoglobinopathies were found in three, Sickle cell disease(2) and thalassemia(1). Infectious causes were seen in two,EBV associated vasculitis(1) and tuberculous meningitis(1). One patient had PHACES syndrome and one had atrial septal defect.
Common presentations were hemiparesis [10/20] and seizures [10/20], and one patient was asymptomatic.
Three patients underwent surgery [encephaloduroarteriosynangiosis]. Patients having a potentially treatable underlying etiology could be managed conservatively with appropriate management of the disease.
Conclusions-
In patients with suspected MMD, extensive clinical, laboratory and imaging evaluation maybe required to define MMS as this will have a significant impact on the management and prognosis of the patient.