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- Eyal Cohen, MD
- Oscar M. Navarro, MD
- The Hospital for Sick Children, Toronto, Ontario, Canada
- ALT: alanine aminotransferase
- AST: aspartate aminotransferase
- BUN: blood urea nitrogen
- CBC: complete blood count
- CNS: central nervous system
- CSF: cerebrospinal fluid
- CT: computed tomography
- ECG: electrocardiography
- ED: emergency department
- EEG: electroencephalography
- ESR: erythrocyte sedimentation rate
- GI: gastrointestinal
- GU: genitourinary
- Hct: hematocrit
- Hgb: hemoglobin
- MRI: magnetic resonance imaging
- WBC: white blood cell
Case 1 Presentation
An 18-month-old girl presents with a 6-month history of intermittent fevers, 5 lb weight loss, and mild respiratory distress. A chest radiograph demonstrates bibasilar infiltrates. Despite treatment with parenteral antibiotics, the symptoms persist and the radiographic changes worsen. She has had no cough, vomiting, food aversion, change in appetite, contact with tuberculosis, or foreign travel. Born at term, she previously was healthy and developing normally.
The girl's weight is 20 lb (<3rd percentile), and her height is 31 in (10th to 25th percentile). Her respiratory rate is 30 breaths/min and oxygen saturation is 91% in room air; she is afebrile. Mild intercostal retractions are noted, and crackles are heard bilaterally. There is no clubbing, organomegaly, or rash. Her neurologic findings are normal. Her WBC count is 15.6×103/mcL (15.6×109/L) with normal differential count, pH is 7.42, bicarbonate concentration is 20 mEq/L (20 mmol/L), carbon dioxide partial pressure is 32 mm Hg, and base excess is −3 mEq/L. Blood cultures are sterile, and a tuberculin skin test is nonreactive. A sweat test yields normal results. Twenty-four-hour esophageal pH monitoring does not show gastroesophageal reflux disease (GERD). An additional bedside clinical assessment followed by radiologic confirmation reveals the diagnosis.
Case 2 Presentation
The parents of a 31/2-year-old boy notice that he has grown pubic hair recently, but has no body odor or acne. He has had no headaches, seizures, visual problems, polyuria, or polydipsia. His growth and development have been normal.
Physical examination reveals a muscular child whose height is at the 90th percentile, where it has been for 6 months, and whose weight is above the 95th percentile. His gonads are prepubertal in size, measuring 2.1×0.9 cm on the right and 2.0×0.8 cm on the left. His penis is 5.2 cm in length, and there is sparse pubic hair (Sexual Maturity …
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