Erdheim-chester disease revealed by diabetes insipidus

Abstract

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.

Novel paraneoplastic mechanism for cerebellar ataxia in Erdheim-Chester disease

“…Unusually in our case, the cerebellar ataxia presented in the absence of any cerebellar structural abnormalities. Although there are other reported cases of ECD patients with ataxia and a lack of cerebellar structural abnormalities, there is, to our knowledge, no proposed mechanistic cause for this 23. So, what might have caused the ataxia in our patient?…”

Erdheim‐Chester disease of brain parenchyma without any systemic involvement: A case report and review of literature

“…In addition, all of the CNS‐limited ECD cases were ultimately diagnosed by cranial biopsy. On the other hand, cranial biopsy has rarely been performed in ECD cases with systemic involvement, as skin, bone, or kidney biopsies were preferred in these cases because they were easier to perform 6,28,30–47 . In almost half of the cases, the BRAF mutation was not studied or not mentioned in the case reports.…”

“…On the other hand, cranial biopsy has rarely been performed in ECD cases with systemic involvement, as skin, bone, or kidney biopsies were preferred in these cases because they were easier to perform. 6,28,[30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47] In almost half of the cases, the BRAF mutation was not studied or not mentioned in the case reports. However, if the BRAF mutation was studied and found to be positive, the prognosis was favorable, with total or partial remission when specific BRAF kinase inhibitors (such as vemurafenib or dabrafenib) or tyrosine kinase inhibitors (such as cobimetinib) were used as targeted therapy.…”

Paediatric Erdheim-Chester Disease in the Lateral Ventricle: A Case Report and Review of the Literature

“…In addition, the CNS symptoms in ECD exhibit a variety, with cerebellar and pyramidal syndrome being the most common neurological signs, and other features described include seizures, headache, neuropsychiatric signs, cognitive impairment, sensory impairment, and cranial nerve palsy ( 10 , 12 ). Multisystemic organs, including diabetes insipidus ( 13 ), skin disease with xanthelasma-like lesions (XLL) ( 14 ), perirenal fat infiltration ( 15 ), and lung and heart involvement ( 16 ), are all affected, which provides a challenge for pediatricians to identify differences from ECD. In this study, the case was complex and rare because the patient first developed clinical manifestations of polydipsia and polyuria, followed by limitation of movement in the left eye.…”