Rare diagnosis of Melkersson-Rosenthal syndrome in a paediatric patient

Abstract

Melkersson-Rosenthal syndrome (MRS) is a rare neurocutaneous syndrome characterised by the triad of recurrent orofacial swelling, facial nerve palsy and fissured tongue. This diagnosis is particularly rare in children. We aim to increase awareness of the syndromic association of these clinical features since most patients present with a monosymptomatic form, reiterating the importance of detailed history and thorough physical examination, for the timely identification of these patients. Not only the recurring of symptoms, but also the association of MRS with other medical conditions, make ‘earlier’ diagnosis of the Syndrome beneficial. The average delay in diagnosis is 4–9 years. Although most cases resolve without treatment, when treated,steroids are most commonly used. Variable options have been tried for refractory and frequently recurrent cases. We present a case of MRS in a 12-year-old girl, diagnosed 3 years after onset of symptoms. We reviewed updated literature for MRS and associated clinical conditions as well as published treatment options.

A Case of Unrelenting Facial Swelling

“…Existing case reports of patients with MRS feature patients between and with origins from several different regions worldwide, including east Asia, west Africa, southern Europe, and the middle east. 1,[6][7][8][9][10][11] In a retrospective review of 44 patients, Feng et al observed that there was a high association between MRS diagnosis and positive food allergen detection (87%). 6 There are also suggestions that MRS may have some association with Bell palsy and other autoimmune disorders, including Crohn disease, and sarcoidosis.…”