Purpose: We report the unrecognized association of Langerhans cell histiocytosis (LCH) with partial DiGeorge syndrome.
Patient and methods: A 7-week-old infant with endocrine and immunologic characteristics of DiGeorge syndrome displayed multisystem involvement of Letterer-Siwe disease at birth.
Results: Despite vigorous medical support and chemotherapy, she died at 9 months of age with multisystem failure.
Conclusions: This case supports the role of the thymus n the pathogenesis of LCH.