Long-term clinical trajectory of microvillus inclusion disease associated with STXBP2-related familial hemophagocytic lymphohistiocytosis type 5: A case report.
Hiroyuki Tanaka, Mariko Sekiguchi, Yuko Kajiho et al.
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Case in brief
A 22-year-old male with familial hemophagocytic lymphohistiocytosis type 5 presented with chronic diarrhea that began in infancy and persisted despite bone marrow transplantation. Sixteen years post-transplant, he was diagnosed with microvillus inclusion disease through histopathological analysis. The patient also experienced Fanconi syndrome, which improved with enhanced parenteral nutrition, addressing growth retardation and endocrine abnormalities linked to chronic undernutrition.
What made this case unusual
The case highlights the late diagnosis of microvillus inclusion disease in a patient with familial hemophagocytic lymphohistiocytosis type 5, a rare association that complicates the clinical picture.
Diagnostic / clinical pearl
Clinicians should consider the possibility of microvillus inclusion disease in patients with familial hemophagocytic lymphohistiocytosis type 5 who present with chronic diarrhea, especially when symptoms persist post-transplant.
Why it matters
This case emphasizes the need for individualized nutritional management in patients with complex conditions, as chronic undernutrition can lead to significant systemic complications.