The co-occurrence of Thrombocytopenia with Absent Radius (TAR) syndrome and Langerhans Cell Histiocytosis (LCH) is exceedingly rare, with scant documentation in existing medical literature. This case report aims to shed light on this unique intersection of conditions, emphasizing the diagnostic and therapeutic challenges it presents. A 27-year-old female with a history of TAR syndrome presented with microcytic anemia, hip pain, and gastrointestinal symptoms. Terminal ileum intubation during colonoscopy revealed superficial ulcerations, leading to a biopsy that confirmed LCH. Subsequent radiologic investigations, including CT and MRI, showed multiple osseous lesions in the pelvis, sacrum, and skull. A treatment plan involving IV Cytarabine was initiated due to concerns of CNS involvement, as indicated by mastoid air cell involvement and symptoms of dizziness and ear fullness. The case highlights the diagnostic value of terminal ileum intubation during colonoscopy, which was pivotal in diagnosing LCH in this patient. It also discusses the use of IV cytarabine, a chemotherapy drug that inhibits DNA synthesis, as a suitable treatment option given the suspected CNS involvement. The case adds to the limited literature on the natural history and management of adult patients with LCH, particularly in the context of TAR syndrome. This case report serves as a compelling addition to medical literature, highlighting the diagnostic complexities and treatment considerations in a patient with both TAR syndrome and LCH. It emphasizes the importance of comprehensive diagnostic approaches, including terminal ileum intubation during colonoscopy, and introduces IV cytarabine as a viable treatment option for cases with suspected CNS involvement.
Keywords: Colonoscopy; Cytarabine; Langerhans cell histiocytosis; PET; Terminal ileum; Thrombocytopenia with absent radius.
© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.