Case 2: Neurofibromatosis

Question 1

Introduction

Answer 1

This patient is a 5-year-old, Caucasian boy with a complex medical history including premature birth, epilepsy, and neurofibromatosis type 1 with associated first degree relative with NF1 (mother and siblings), cafe-au-last macules, chicas al optic nerve glioma, hamartomas, and T2 signal hyperintensities. He was referred to me to determine his cognitive functioning. The results were suggestive of common phenotype seen in NF1. He meets criteria for ADHD, combined type.