B-35: Pediatric Neurofibromatosis Type 1 and Moyamoya Cognitive Profile and Re-evaluation: A Case Study

Abstract

Objective: Neurofibromatosis Type 1 (NF1) is a common genetic disorder. Patients with NF1 have an elevated risk of cerebrovascular conditions, including Moyamoya disease. Both conditions are associated with neurocognitive deficits, yet limited research addresses their combined impact on children. This case examines the neuropsychological profile of a bilingual girl with comorbid NF1 and Moyamoya across assessments at ages seven, eight, and ten. Method/Data Selection: Retrospective review of medical records, parent interviews, and neuropsychological evaluations were conducted. History is notable for NF1, Moyamoya, bilateral optic glioma, left temporal subarachnoid cyst, attention problems, and learning difficulties. Three neuropsychological evaluations were conducted in four years to support diagnostic clarification and treatment planning. Battery was determined based on age and language factors. Results/Data Synthesis: Evaluation generally revealed very low FSIQ, but with discrepancies between verbal and visual-spatial skills with slight decline overtime. Academic measures revealed reading difficulties, with slight improvement in comprehension. Mathematic abilities decreased overtime. Memory performance showed consistent verbal learning/memory below age expectations. Persistent attention and concentration issues were present across evaluations. Strengths included visual-spatial skills, processing speed, social-emotional functioning, and adaptive skills. Conclusions: Patient met criteria for attention and concentration deficits, other amnesia, and learning disorders in reading and math. Her combined NF1 (with a left temporal subarachnoid cyst) and Moyamoya conditions produced a distinct cognitive profile that differs from typical presentations of either disorder suggested by extant literature. Re-evaluations highlighted how this profile changed over time.