Pediatrics
A 2-year-old child presents with painful swelling on the dorsal surfaces of the hands, feet, fingers, and…
A 2-year-old child presents with painful swelling on the dorsal surfaces of the hands, feet, fingers, and toes (see lab results and report). Blood pressure 110/70 mmHg Heart rate 100 /min Respiratory rate 22 /min Temperature 38.9° C Test Result Normal Values Hb 77 112-165 g/L Re7culocyte 3.9 0.2-1.2 % Blood smear: Several elongated and crescent shaped red blood cells. Which of the following is the most appropriate on-going care?
Explanation
Core Concept: Sickle Cell Disease (SCD) is an autosomal recessive hemoglobinopathy (HbS) causing red blood cell sickling under hypoxic/stress conditions, leading to vaso-occlusion and hemolysis. Dactylitis (hand-foot syndrome) is often the first clinical presentation in infants and toddlers.
Clinical Presentation:
- Classic symptoms: Vaso-occlusive crises (painful swelling of hands/feet, bone pain), acute chest syndrome, and chronic hemolytic anemia.
- Complications: Splenic sequestration, aplastic crises (Parvovirus B19), ischemic stroke, and functional asplenia leading to severe infections.
Diagnosis:
- Diagnostic algorithm: CBC, reticulocyte count (elevated), and peripheral smear (sickle cells, Howell-Jolly bodies indicating hyposplenism).
- First-line diagnostic plan: Newborn hemoglobinopathy screening.
- Gold standard: Hemoglobin electrophoresis or High-Performance Liquid Chromatography (HPLC) confirming the presence of HbS and absence of HbA.
Management:
- Acute management: Hydration, analgesia, and oxygen for vaso-occlusive crises.
- Long-term/Definitive management: Due to functional asplenia, children are at high risk for sepsis from encapsulated organisms (e.g., *S. pneumoniae*). Prophylactic oral penicillin V is mandated from birth until at least age 5, alongside strict adherence to immunizations (including pneumococcal, meningococcal, and Hib vaccines). Hydroxyurea is also used to increase HbF levels.