Neurofibromatosis
Patient Story Print Section Listen A 12-year-old asymptomatic girl was noted to have six cafĂ©-au-lait macules (Figure 206-1A) and axillary freckles (Figure 206-1B) during a general physical examination. No neurofibromas…
Patient Story Print Section Listen A 12-year-old asymptomatic girl was noted to have six cafĂ©-au-lait macules (Figure 206-1A) and axillary freckles (Figure 206-1B) during a general physical examination. No neurofibromas…
Patient Story Print Section Listen A 9-year-old girl presents to her pediatrician for constant nasal congestion, runny nose, and intermittent bouts of sneezing and itching. Her symptoms occur year-round with…
Patient Story Print Section Listen A 2-year-old girl was brought to her pediatrician for her well child visit. On exam, she was noted to have several hypomelanotic lesions over her…
Patient Story Print Section Listen A 3-year-old girl is referred to a pediatric neurologist because of a history of developmental delay and focal seizures since birth that are no longer…
Patient Story Print Section Listen A 4-year-old boy with known sickle cell disease is brought to the emergency department with worsening pain in his thighs, lower back, abdomen, and chest….
Patient Story Print Section Listen A 3-month-old female infant presented to her pediatrician with a history of a rash that had been present from birth. Her parents report that her…
Patient Story Print Section Listen A 3-year-old girl presents to the emergency department with decreased appetite, fatigue, and irritability for 1 month. She has periorbital ecchymoses (raccoon eyes) without a…
Patient Story Print Section Listen A 2-month-old previously healthy male infant was brought in by his mother after a seizure. She noted that he had seemed irritable and was not…
Patient Story Print Section Listen A 9-year-old boy with a history of Duchenne muscular dystrophy (DMD) is being seen by his pediatrician for a routine maintenance exam. He initially presented…