Neurofibromatosis type 1 in a 9-year-old boy with learning problems, emotional outbursts, and facial disfigurement.

: John is a 9-year-old boy with a history of neurofibromatosis type 1 presenting to his general pediatrician with difficulty focusing, angry outbursts, and poor performance in school. John was diagnosed with neurofibromatosis type 1 at 1 year of age. Since then, he has undergone 7 surgeries for a right orbital plexiform neurofibroma. His mother reports that he has had trouble with limit setting and tantrums since he was 1.5 years old, "has no capacity to sit still," and is performing below grade level in all academic areas. His tantrums, which can last up to an hour, are usually triggered by limit setting and may involve yelling, foul language, crying, throwing objects, and banging on doors. The tantrums occur only at home.John is currently in third grade and has had an individualized education plan since kindergarten. He has particular trouble remembering new subject material; despite frequent repetition, he seems to "forget it all by the next day." He is performing below grade level in reading, math, and written language, despite additional academic support.John is taking amlodipine and hydrochlorothiazide for hypertension due to renal artery stenosis. His physical examination reveals a large area of hyperpigmentation and swelling around his right eye at the site of a plexiform neurofibroma; he also has axillary freckling and more than 6 café au lait macules, >5 mm in diameter, throughout his chest and back. His speech is 100% intelligible with appropriate tone and quality. The remainder of his physical examination is normal. Screening for educational achievement in clinic shows performance at or below first-grade level for reading, writing, and spelling. Performance in math is below grade level but better than language-based performance.