Reviewing the case, we had an otherwise well-looking infant with growth retardation, blood count changes, significant hepatosplenomegaly, and nystagmus. Because we are not at a major academic center, our access to pediatric subspecialists was limited. We were keen to identify a tentative diagnosis to avoid shuttling the family to different clinicians. The list of differential diagnoses was daunting, and none of them really seemed to fit.
Infantile forms of Gaucher disease (Gaucher type 2) can result in hepatosplenomegaly with progressive global neurologic deficits and pancytopenia.Niemann-Pick disease type A in infants can be similar but lacks blood count changes. Glycogen storage disorders can cause hepatomegaly and can occasionally result in neurologic damage due to hypoglycemia, neutropenia, and platelet dysfunction; however, splenomegaly, anemia, and thrombocytopenia are not usually seen.
Subacute combined immunodeficiency (SCIDS) is the best-known condition in which infants often look sick, with chronic diarrhea, respiratory symptoms, and repeated infections (commonly viral or fungal). Although hepatosplenomegaly is uncommon, it is frequent in Omenn syndrome, a SCIDS variant accompanied by eosinophilia and rashes, and Duncan syndrome, an X-linked lymphoproliferative syndrome with findings of fulminant Epstein-Barr virus infection. Familial hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder seen in infancy, with splenomegaly and cytopenias; however, it is predominantly associated with fever and toxicity due to marked cytokine release.
Infant leukemia is characterized by markedly elevated white blood cell counts, often 400,000-500,000 cells/µL or higher, with numerous leukemic blasts in the blood. Stage 4S infantile neuroblastoma can present with hepatomegaly and "dancing eyes" (opsoclonus-myoclonus); however, it is not associated with nystagmus, massive splenomegaly, or thrombocytopenia.Non-Hodgkin lymphoma is rare in infants; blood counts are not usually affected, and nystagmus is not a feature.
Faced with a diagnostic dilemma, we revisited each element of the history, physical examination, and testing to identify the underlying pathogenesis. Reviewing the peripheral blood smear provided the key that unlocked this puzzle.
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Cite this: Vikramjit S. Kanwar. My Strangest Case: An Infant With Lumps in Her Belly - Medscape - Jun 10, 2020.