Journal of pediatric hematology/oncology · 2026
Splenomegaly With Thrombocytopenia: A Case of the Rare and Obvious.
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Azeez Ajmeera, Bhatia Prateek, Jamwal Manu, Palla Swetha, Das Reena, Jain Richa
Аннотация
BACKGROUND: A 12-year-old boy presented with incidental splenomegaly, mild anemia, and thrombocytopenia, prompting evaluation, with Gaucher disease considered in the differential diagnosis.
OBSERVATION: Enzyme testing revealed low β-glucosidase activity twice; however, Sanger sequencing was negative for mutations in the glucocerebrosidase 1 (GBA1) gene. A peripheral smear review was the turning point; it showed stomatocytes and giant platelets, suggestive of sitosterolemia. Next-generation sequencing confirmed a homozygous, likely pathogenic variant in ATP-binding cassette subfamily G member 5 (ABCG5). The child was started on Ezetimibe and a low plant-sterol diet.
CONCLUSIONS: This case reiterates the importance of peripheral smear examination in leading to a very specific yet uncommon diagnosis of sitosterolemia.
OBSERVATION: Enzyme testing revealed low β-glucosidase activity twice; however, Sanger sequencing was negative for mutations in the glucocerebrosidase 1 (GBA1) gene. A peripheral smear review was the turning point; it showed stomatocytes and giant platelets, suggestive of sitosterolemia. Next-generation sequencing confirmed a homozygous, likely pathogenic variant in ATP-binding cassette subfamily G member 5 (ABCG5). The child was started on Ezetimibe and a low plant-sterol diet.
CONCLUSIONS: This case reiterates the importance of peripheral smear examination in leading to a very specific yet uncommon diagnosis of sitosterolemia.