Clinical Characteristics of Moyamoya Angiopathy in a Pediatric Cohort

Abstract

Moyamoya angiopathy is a rare cerebral vasculopathy characterized by a progressive stenosis of the terminal portion of the internal carotid arteries and the development of abnormal collateral vessels. Children with moyamoya angiopathy become symptomatic because of cerebral ischemic complications, and many patients eventually need revascularization. In most pediatric patients with this disease, the etiology is likely genetic. We aim to report clinical characteristics of a single-center cohort of pediatric patients with moyamoya. We performed a retrospective chart review of patients <18 years with angiographically confirmed moyamoya disease evaluated at our institution. An in-house text search tool, Advanced Cohort Explorer, was used to filter electronic medical records for patients with a diagnosis of moyamoya angiopathy from January 1999 to December 2018. The inclusion criteria were age <18 years at the time of onset of disease and a diagnosis confirmed at Mayo clinic. Fifty-one patients met the inclusion criteria. Fifty-five percent of our cohort were male, and the median age was 9 years. Three patients had a family history of moyamoya disease. Approximately half of our patients had bilateral disease. Sixteen patients had a genetic or chromosomal diagnosis (Down syndrome and NF1 being most common). Congenital anomalies like heart defects and renal dysplasia were also noted. This study is unique in that it was a large study on pediatric patients with moyamoya angiopathy. It also highlights the importance of considering genetic syndromes as an underlying cause when moyamoya angiopathy starts early in life.

Clinical Presentation and Stroke Incidence Differ by Moyamoya Etiology

“…Compared to many prior studies of childhood moyamoya arteriopathy, our cohort has a higher representation of patients with syndromic associations, as well as a higher proportion of Black patients. 17,21,28,29 This is likely because our sample was drawn from a large, urban, tertiary care center with subspecialized care for children with sickle cell disease, neurofibromatosis, and Down syndrome. Notably, another single-center tertiary care pediatric hospital reported similar proportions of children with moyamoya with syndromic associations.…”

“…Although moyamoya disease and moyamoya syndrome associated with different underlying conditions likely represent different disease processes, studies have been mostly descriptive in nature, and the potential association of moyamoya subgroups with differences in radiographic findings, natural histories, or clinical outcomes has yet to be investigated. 17,21 Distinctions between different subgroups could guide more precise and optimized screening, counseling, and treatment for different patient groups. Here we present an analysis of clinical and radiographic differences among moyamoya subgroups in a single-center, retrospective pediatric cohort.…”

Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases

“…Accordingly, compared to controls, Down's syndrome patients may present with significantly increased stages of MMA, and may be more than 10 times as likely to show aberrations of the Circle of Willis (323), and vertebral arteries (322, 324). Several genes on chromosome 21 may be associated with angiogenesis, including Down Syndrome Critical Region 10 (DSCR10) (21q22.13), Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A (DYRK1A) (21q22.13), and Collagen Type XVIII Alpha 1 Chain (COL18A1) (21q22.3), possibly by VEGF inhibition (322,325,326). In 2021, Kim et al described a Korean female pediatric patient with CHOPS syndrome accompanied by systemic vasculopathy.…”

Moyamoya Disease in a Six Month Caucasian Female

“…The etiology of MMD is not fully known, and is classified as primary moyamoya syndrome (also called MMD) if it is idiopathic, and classified as secondary moyamoya syndrome if there is an identifiable cause like Down Syndrome, neurofibromatosis, sickle cell disease, previous cranial irradiation or another cause of vasculopathy [6,8].…”