Index of Suspicion * Case 1: Abdominal Pain, Vomiting, and Weakness in an Obese Adolescent * Case 2: Bowlegs in a Toddler * Case 3: Cyclical Abdominal Pain and Urinary Symptoms in a Teenage Girl

Abstract

A 15-year-old girl is hospitalized with right upper quadrant abdominal pain, vomiting, and weakness of 3 days' duration. She has a history of hyperlipidemia, polycystic ovary syndrome (PCOS), metabolic syndrome, and left ovarian cystadenectomy. She has been taking oral contraceptives (OCPs) and metformin for the past 2 years and started spironolactone 8 weeks ago. She experienced menarche at age 12 years and had one menstrual cycle for the whole first year. There is no history of dysmenorrhea or menorrhagia. Her family history is positive for type 2 diabetes mellitus (DM), obesity, and gallstones. On physical examination, her body mass index (BMI) is 28.0 kg/m2 (95th percentile), and she is in mild distress due to pain. Her blood pressure is 128/76 mm Hg (90th percentile for age and height); the remainder of her vital signs are normal. She has acanthosis nigricans and hirsutism. She is at Sexual Maturity Rating 5. She has mild tenderness in the right upper abdominal quadrant, but there is no organomegaly or rigidity. The rest of the physical findings are normal. Laboratory results reveal serum amylase of 660 units/L, lipase of 263 units/L, AST of 868 units/L, ALT of 1,573 units/L, cholesterol of 216 mg/dL (5.6 mmol/L), triglycerides of 181 mg/dL (2.0 mmol/L), high-density lipoprotein (HDL) cholesterol of 33 mg/dL (0.9 mmol/L), and glucose ranging from 120 to 148 mg/dL (6.7 to 8.2 mmol/L). Ultrasonography shows multiple cholesterol gallstones and a thickened gall bladder. Additional investigation reveals the diagnosis. A healthy 2-year-old girl presents to the clinic for evaluation of bowlegs. She was born at term and had a birthweight of 6 lb 11 oz. Her development has been normal, and she eats a regular diet. However, the bowing of her legs has increased progressively since she started walking at 1 year of age. There is …