Dados do Trabalho

Título

Clinical features of a large Brazilian cohort of patients with Melkersson-Rosenthal syndrome

RESUMO

Introduction: Melkersson-Rosenthal syndrome (MRS) is a rare and underdiagnosed neurological condition, characterized by recurrent facial palsy, orofacial edema, and fissured tongue, starting during the second or third decade of life. Its pathophysiological basis is still widely unknown.
Objective: Our objective was to characterize clinical and epidemiological features of a Brazilian cohort of patients with MRS.
Methods: We performed a retrospective observational study reviewing medical records from patients with MRS diagnosis from an initial sample of 1550 patients followed-up in a Brazilian Neuromuscular Reference Center.
Results: We report 16 patients with MRS (7 women, 9 men), with age at diagnosis ranging from 20 to 84 years. All patients presented with peripheral facial nerve palsy as their first sign, starting at age 12 to 50 years, and each episode lasting from 10 to 50 days. Fifteen patients presented with recurrent facial palsy, including one case with 28 episodes during 55 years of disease course. Two cases presented with synchronous bilateral peripheral facial nerve palsy. Six patients presented with the three typical features (orofacial edema, fissured tongue, and facial palsy), while six presented with fissured tongue, twelve with labial edema, and eleven with facial and orbital edema. Mischer’s granulomatous cheilitis was identified in four cases. We also identified: episodic dysgeusia (n=7), hypoacusis or hyperacusis (n=3), peripheral neuropathy (n=1), and other cranial nerve involvement (n=4). Facial spasm or myokymia in almost 33% of cases and Marin Amat synkinesis in 12,5% of cases. First clinical suspicion included recurrent Bell palsy (n=11), multiple cranial neuropathy (n=1), neurosarcoidosis (n=1), Guillain-Barré syndrome (n=1), multiple sclerosis (n=1), and ischemic stroke (n=1). Three patients had a familial history of facial palsy. Medical history disclosed: varicella infection during childhood (n=11), chronic rhinitis (n=6), autoimmune thyroiditis (n=3). Diagnostic approach disclosed: 75% of cases with normal neuroimaging studies; 100% with normal cerebrospinal fluid analysis; a large NGS gene panel for neuropathies was performed in seven cases and was unremarkable.
Conclusion: MRS may be associated with previous autoimmune and autoinflammatory conditions. It is unlikely that a monogenic basis exists for MRS, despite a predisposing genetic risk basis being highly suggestive.

Palavras Chave

Melkersson-Rosenthal syndrome; recurrent facial palsy; fissured tongue; orofacial edema; clinical features