A Delayed Presentation and Diagnosis of Sickle Cell Disease in an Immigrant Child

Introduction: Sickle Cell Disease (SCD) has been included in the newborn screen (NBS) nationwide in the United States since 2006. As such, a delayed presentation is a rare finding for U.S. pediatricians.

Case Description: A two-year-old girl presented with three days of irritability and refusal to ambulate. She had no fever nor other viral symptoms. She was born in the Democratic Republic of Congo (DRC) and immigrated to the United States at two months of age.

Several months prior, she was hospitalized for fevers and refusal to ambulate. ESR and CRP were elevated to 39 mm/hr and 3.5 mg/L, respectively. X-Rays of bilateral lower extremities were unremarkable, and MRI showed bilateral enhancement at the iliac joints. Nasopharyngeal swab was positive for rhino/enterovirus and she was diagnosed with transient synovitis. Hgb was low at 8.5, down-trended to 6.8, and was attributed to likely iron deficiency anemia exacerbated by frequent blood draws.

On presentation, she was irritable but consolable with a fever of 38.6 C. Physical exam was notable for mild tenderness and swelling on the dorsum of her right foot without erythema. She remained non-weight bearing but with full passive and active range of motion of bilateral ankles, knees and hips.

Labs were significant for Hgb 10.1 g/dL, ESR 35 mm/hr and CRP 5.9 mg/L. MRI pelvis showed resolution of previous iliac joint signal abnormalities and enhancement consistent with red marrow hyperplasia; MRI right foot showed enhancement of metatarsals, calcaneus, and distal tibia, concerning for multifocal osteomyelitis.

Upon review of imaging, changes appeared secondary to bone infarction and sickle cell disease (SCD) was considered. Hematology was consulted and hemoglobin electrophoresis confirmed the diagnosis. Her clinical picture was consistent with vaso-occlusive crisis.

Discussion: NBS of SCD is important given appropriate interventions and screening for SCD associated complications can occur promptly at diagnosis, such as penicillin prophylaxis to prevent severe infections from encapsulated organisms. Although the prevalence of SCD in DRC is 2%, universal national screening with tracking for confirmatory testing and initiating early management has been difficult to implement in the country due to limited educational, financial and human resources.

Conclusion: This case demonstrates how children with SCD may present when it is not diagnosed at birth and emphasizes the importance of history and physical exam in the diagnosis especially in patients who immigrated to the U.S.