Amor Bilel Ben, Sayadi Hanene, Jemel Manel, Mrabet Houcem, Hadhri Rym, Slim Tensim, Klii Rym, Khochtali Ines
Fattouma Bourguiba University Hospital, Department of Endocrinology, Monastir, Tunisia.
National Institute of Nutrition, Department of Endocrinology Tunis Tunisia.
Pan Afr Med J. 2019 Aug 13;33:293. doi: 10.11604/pamj.2019.33.293.19194. eCollection 2019.
Erdheim-Chester disease (ECD) is a very rare and aggressive form of non-Langerhans histiocytosis with unclear pathogenesis. Because of the heterogeneity of clinical presentation, diagnosis is often challenging and delayed. Currently, Interferon alpha is the first line treatment that is associated with a better survival. The prognosis is relatively poor, especially in case of neurological and cardiovascular involvement. Herein, we report the case of a 64-year-old Tunisian female patient presenting an aggressive form of ECD revealed by diabetes insipidus and cerebellar ataxia with a diagnosis delay of 4 years. The assessment of disease extent had also shown associated asymptomatic cardiac and bone involvement. Pegylated Interferon alpha was started at high dose allowing disease stabilization. This case illustrates that physicians should be aware of the heterogeneous manifestations of ECD in order to insure an early diagnosis and treatment. Long-term and regular follow-up is crucial because of the risk of disease progression.
Erdheim-Chester病（ECD）是一种非常罕见且侵袭性的非朗格汉斯组织细胞增多症，其发病机制尚不清楚。由于临床表现的异质性，诊断往往具有挑战性且会延迟。目前，α干扰素是一线治疗药物，与较好的生存率相关。预后相对较差，尤其是在神经和心血管受累的情况下。在此，我们报告一例64岁突尼斯女性患者，其表现为侵袭性ECD，以尿崩症和小脑共济失调为首发症状，诊断延迟4年。疾病范围评估还显示存在无症状的心脏和骨骼受累。开始高剂量使用聚乙二醇化α干扰素使疾病得到稳定。该病例表明，医生应了解ECD的异质性表现，以确保早期诊断和治疗。由于疾病进展的风险，长期定期随访至关重要。
