Open AccessA case report of CLIPPERS syndrome and literature review
Author(s) -
Lei Zhang,
Dan Zhao,
Jia Li,
Jun Feng,
Qinghui Zhang,
Li Liu,
Jingxin Liu,
Jiajun Chen
Publication year - 2021
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000026090
Subject(s) - medicine , etiology , pathogenesis , magnetic resonance imaging , pathology , disease , radiology
Rationale: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a chronic inflammatory disorder of the central nervous system. It is characterized by the appearance on magnetic resonance imaging of punctate and curvilinear gadolinium enhancement in the pons and cerebellum, and is exquisitely responsive to steroid treatment. The etiology of CLIPPERS remains unclear, although its pathogenesis reflects immune-mediated processes. The accurate diagnosis of this disease is very important for both its management and prognosis. Patient concerns: A 43-year-old woman presented with clinical and radiological features suggestive of CLIPPERS. Whole-exome sequencing of the patient's DNA revealed 76 mutations. Diagnoses: The patient was clinically diagnosed with CLIPPERS. Interventions: Hormone therapy was administered intravenously upon hospitalization and then gradually reduced to an oral dose. Outcomes: The clinical symptoms and imaging manifestations of the patient improved rapidly. This patient was followed up for more than 1 year, and there has been no recurrence or aggravation. Lessons: A gene variation library of CLIPPERS syndrome was established, which lays the foundation for the further accumulation of data, and will allow the etiology and pathogenesis of the disease to be explored.