Moyamoya Syndrome in Patients With Down Syndrome and Acute Lymphoblastic Leukemia

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Moyamoya syndrome (MMS) is a progressive cerebrovascular disease causing stroke risk.
• Children with Down syndrome (DS) have elevated risks for comorbidities like leukemia and MMS.
• The co-occurrence of DS, MMS, and acute lymphoblastic leukemia (ALL) is rare but significant.

Purpose of the Study:

• To report on the clinical presentation and management of patients with the rare triad of Down syndrome, Moyamoya syndrome, and acute lymphoblastic leukemia.
• To highlight the importance of recognizing Moyamoya syndrome in pediatric patients with Down syndrome undergoing leukemia therapy.

Main Methods:

• Case series review of four patients with Down syndrome, Moyamoya syndrome, and acute lymphoblastic leukemia.
• Analysis of diagnostic timelines for Moyamoya syndrome in relation to acute lymphoblastic leukemia treatment.

Main Results:

• Four pediatric patients presented with the triad of Down syndrome, Moyamoya syndrome, and acute lymphoblastic leukemia.
• Two patients were diagnosed with Moyamoya syndrome before acute lymphoblastic leukemia therapy, and two during therapy.
• Neurologic changes in these patients necessitated careful monitoring and management.

Conclusions:

• The co-occurrence of Down syndrome, Moyamoya syndrome, and acute lymphoblastic leukemia presents unique clinical challenges.
• Increased vigilance for Moyamoya syndrome is crucial in Down syndrome patients, especially those with acute lymphoblastic leukemia and neurological symptoms.
• Early recognition and management of Moyamoya syndrome can mitigate stroke risk in this vulnerable population.