Differentiating Neurocutaneous Genetic Syndromes

In Episode 47 of Med School Question of the Week for USMLE, Alisa Khomutova, MedSchoolCoach expert tutor, answers this medical school question: An 8-year-old boy is brought to the physician by his parents because of a 15 lb. weight loss during the last 4 months. During this period, he has complained of abdominal pain and fullness, and his parents feel that he has been eating less. His parents also report that his urine has appeared pink for several weeks. He was born at term and has been healthy except for a history of several infantile seizures. His vital signs are within normal limits. He is at the 70th percentile for height and 18th percentile for weight. On physical exam there is a palpable abdominal mass, tenderness in the left upper quadrant, and left CVA tenderness. There are several hypopigmented macules on the torso and a 4.5-cm plaque of rough, dimpled skin on the right lower back that is of a similar color as the surrounding skin. Which of the following is the most likely diagnosis?

• Neurofibromatosis 1
• Neurofibromatosis 2
• Tuberous Sclerosis
• Sturge- Weber Syndrome
• Von Hippel Laundau disease