Adam is a 2-year-old boy originally from the Mediterranean area. He was brought to the emergency by his concerned parents. Adam presented with shortness of breath, irritability, and severe fatigue. He also appeared quite pale. Four days prior to these symptoms, Adam caught a common cold and developed fever for which his family doctor prescribed acetaminophen. The mother reported that Adam ate fava beans one day prior to the onset of his current symptoms. “It is the first time that I have seen my son like that” said the crying mother.
On examination:
- Height: 108 cm, Weight: 20 Kg, BMI: 17.1 (89th percentile)
- Heart rate: 120/min, Respiratory rate: 23/min, Temperature: 37.30C, O2 SAT: 94%
- The child had dyspnea and his skin was pale. His sclera appeared yellowish which was not noticed by the parents beforehand.
Laboratory values
- Urine analysis: color: yellow, pH: 5.9, specific gravity: 1017, osmolarity : 432 mmol/kg; glucose, ketones, bilirubin and bile salts: negative, urobilinogen: +++, WBCs and RBCs: 4 and 3/HPF, squamous epithelial cells, casts, bacteria, yeast: negative.
- Stool analysis: color: dark brown, urobilin: ++
- Blood analysis:
- CBC: hemoglobin: 65 g/L, hematocrit: 0.24, RBC: 2.1 x 1012/ L, MCV: 96 fL, MCH: 23 pg, RDW: 15.6%, reticulocytes: 176 x 109/ L (3.5%), ESR: 20 mm/hour, WBC: 11 x 109/l, (neutrophils: 4.9 x 109/L, lymphocytes: 5.7 x 109/L, basophils: 0.08. x 109/L, eosinophils: 0.35 x 109/L, monocytes: 0.48 x 109/L), platelet counts: 205 x 109/L
- Total bilirubin: 94 umol/L, conjugated bilirubin: 9 umol/L, unconjugated bilirubin: 85 umol/L,
- AST: 22 U/L, ALT: 26 U/L, ALP: 40 IU/L, GGT: 26 IU/L, 5'-NT: 11 IU/L, albumin: 40.69 g/L, LDH: 355 U/L
- INR: 1.09,
- G6PD: 3.1 U/gm of Hgb
- Na: 137 mmol/L, K: 4.3 mmol/L,
- Viral serology: HBsAg, HCV Ab, HAV IgG, EBV VCA-IgM, EBV VCA-IgG, CMV IgG: negative
What is the direct cause of Adam's clinical symptom?Question 2 Explanation:
Adam’s symptoms and laboratory values indicate hemolytic anemia, which in his case is caused by an enzyme deficiency. Nutritional deficiencies can certainly cause anemia; however, Adam’s complete blood picture shows normocytic normochromic anemia, which is not consistent with nutritional deficiency. The negative viral serology rules out some specific viral infection. Adam had a common cold, which plays a role in the development of hemolytic anemia as a trigger but only because Adam has a certain enzyme deficiency.