Background And Aims: There are few retrospective studies describing clinical-radiological features and outcomes of children with Down Syndrome (DS) and Moyamoya (MM). Our aims are to present three cases of DS/MM from our institution, perform a review of the literature to compile similar case reports, determine if there is a clinical-radiological syndrome specific to DS/MM, and determine if this association is related to different outcomes.
Methods: Our clinical database was reviewed between 2017–2019 for patients with DS/MM and cross- referenced with our radiology PACS database. We then reviewed the clinical data, imaging, treatment, and outcomes of previously 38-reported cases in English world literature with DS/MM from 1977 to 2018 using PubMed, Ovid, Medline, and Embase.
Results: Case 1: Six year-old girl with focal status epilepticus, left MCA infarction and bilateral MM. Case 2: Three year-old boy with right hemiparesis, left MCA infarction and bilateral MM. Case 3: Thirteen year-old boy with right leg monoparesis, MRI-A: left ACA infarction and left ICA-MCA incipient MM. Case 1 & 2: managed with multiple burr holes (MBH). Case 1: surgery was performed 5 days after initial stroke due to rapid progression. Case 3: treated conservatively. On follow-up, all children had minimal deficit and continued on ASA. We reviewed 38 DS/MM cases found in the literature: 30 children presented with hemiparesis and 12 were treated surgically.
Conclusions: Our findings are suggestive that DS/MM presentation and severity is variable with relatively good outcomes post-surgery. To our knowledge, Case 1 is the first reported child with DS/MM treated with urgent surgical MBH revascularization.
Available at: http://works.bepress.com/andrea-andrade/5/