Reinders Alexis N, Gaston Farrah, Ali Haroon, Beekman Michele K, Kumar Prerna
Pediatrics, University of Illinois College of Medicine, Peoria, USA.
Internal Medicine - Pediatrics, University of Illinois College of Medicine, Peoria, USA.
Cureus. 2024 Sep 18;16(9):e69671. doi: 10.7759/cureus.69671. eCollection 2024 Sep.
Langerhans cell histiocytosis (LCH) is a rare histiocytic neoplastic disorder that presents in all age groups, although it often affects young children. Patients typically present with lytic bone lesions and an erythematous rash, though other systems such as the digestive, endocrine, lymphatic, and respiratory systems can be involved. We present a case of LCH that was masked by symptoms of constipation. The patient was a three-year-old female who presented with a primary complaint of constipation accompanied by abdominal and back pain. Further investigation identified an L3 lesion on lumbar spine magnetic resonance imaging, for which a pediatric neurosurgeon performed an open reduction and internal fixation. Pathology confirmed the diagnosis of LCH. This was followed by one year of chemotherapy. To date, she has not had a recurrence of LCH. This case demonstrates the importance of generating a broad differential diagnosis and determining and treating the etiology of a patient's symptoms rather than the symptoms alone. Physicians must maintain a high index of suspicion for rare diagnoses when symptoms have persisted and more common etiologies have been ruled out. A thorough neurological exam should be performed for all patients with constipation due to an unknown etiology, especially when accompanied by back pain. Although the patient did not present with gastrointestinal (GI) involvement of LCH, nonspecific GI symptoms such as diffuse abdominal pain and bloody diarrhea have been associated with this rare diagnosis. We thoroughly review the literature regarding both GI involvement of LCH and cases of LCH that present with accompanying GI symptoms. Additionally, we highlight the clinical treatment options of LCH.
朗格汉斯细胞组织细胞增多症（LCH）是一种罕见的组织细胞肿瘤性疾病，可发生于所有年龄组，但常累及幼儿。患者通常表现为溶骨性骨病变和红斑皮疹，不过消化系统、内分泌系统、淋巴系统和呼吸系统等其他系统也可能受累。我们报告一例被便秘症状掩盖的LCH病例。该患者为一名3岁女性，主要主诉为便秘并伴有腹痛和背痛。进一步检查发现腰椎磁共振成像显示L3病变，小儿神经外科医生对其进行了切开复位内固定术。病理检查确诊为LCH。随后进行了为期一年的化疗。迄今为止，她的LCH未复发。该病例表明了进行广泛鉴别诊断以及确定和治疗患者症状病因而非仅治疗症状的重要性。当症状持续且更常见的病因已被排除时，医生对罕见诊断必须保持高度怀疑。对于所有病因不明的便秘患者，尤其是伴有背痛的患者，应进行全面的神经系统检查。尽管该患者未出现LCH的胃肠道受累情况，但弥漫性腹痛和血性腹泻等非特异性胃肠道症状与这种罕见诊断有关。我们全面回顾了关于LCH胃肠道受累以及伴有胃肠道症状的LCH病例的文献。此外，我们还强调了LCH的临床治疗选择。
