Crigler-Najjar syndrome Quiz: Ace Your Exams
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A 2-week-old male is brought to the emergency department by his parents for jaundice and hypotonia. He was born at 39 weeks gestation via an uncomplicated vaginal delivery. The patient was jaundiced at birth, and the symptoms have persisted. He is exclusively breastfed and produces 6-7 wet diapers per day. Family history is notable for hypertension in his father. Physical examination shows jaundice and reduced muscle tone throughout the body. In addition, the patient has scleral icterus and impaired upward gaze in the left eye. Laboratory testing reveals the following findings:
Which of the following is the most likely diagnosis?
| Laboratory value | Result |
| Hemoglobin | 16.5 mg/dL (reference range: 10.7-17.1 mg/dL) |
| Hematocrit | 49.5% (reference range: 42-65%) |
| Mean corpuscular hemoglobin | 27.8 pg/cell (reference range: 31-37 pg/cell) |
| Leukocyte count | 10,100/mm3 (reference range: 9,000-30,000/mm3) |
| Total bilirubin | 23.0 mg/dL (reference range: 0.1-1 mg/dL) |
| Conjugated bilirubin | 0.3 mg/dL (reference range: 0.0-0.3 mg/dL) |
| UDP-glucuronosyltransferase activity | absent (reference value: present) |
Which of the following is the most likely diagnosis?
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