Syndrome de Melkersson-Rosenthal à caractère familial : à propos d’un cas

Abstract

RÉSUMÉUn patient âgé de 18 ans consulte pour une macrochéilite supérieure évoluant par poussées sans que la lèvre reprenne son aspect normal entre les poussées. L'anamnèse révèle un antécédent de paralysie faciale péri-phérique gauche. L'examen endobuccal montre entre autres une langue plicaturée et un oedème gingival. Devant cette triade symptomatique, le diagnostic clinique du syndrome de Melkersson-Rosenthal a été éta-bli. La récidive de l'oedème a soulevé des difficultés thérapeutiques. L'enquête auprès de la famille du patient a permis d'établir l'arbre généalogique permettant de retrouver ces atteintes chez certains membres de cette famille. Med Buccale Chir Buccale 2007 ; 13 : 29-34. mots clés : syndrome de Melkersson-Rosenthal, paralysie faciale, oedème, granulomatose.

Melkersson–Rosenthal Syndrome in Childhood: Report of Three Paediatric Cases and a Review of the Literature

“…As a matter of fact, the first symptoms occurred before the age of 18 years in 116 cases, but only 67 patients (57.8%) were diagnosed with MRS before this age [2,3,4,5,10,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39]. Two of the three cases we have reported have been diagnosed under the age of 10; interestingly, literature describes only 18 cases in which diagnosis was made that early [10,14,15,16,17,18,27,31,34,35,37,39].…”

“…Xu et al employed exome sequencing to determine potential mutations for MRS: mutations of FATP1, a fatty acid transport protein involved in fatty acid metabolism, has been identified as a causal gene for MRS in a Chinese family [38]. When familial history was investigated, another member of the family was found to be affected for 12 out of 30 children (40%) [2,4,5,6,7,10,13,15,16,19,23,25,28,33,35,36,37,38]. Only Patient 1 had a positive family history for signs and symptoms of MRS, her father being affected by recurrent peripheral facial palsy.…”

“…This clinical heterogeneity is reflected by the gross and unstandardized diagnostic criteria, whose requirements are the presence of at least two of the characterizing symptoms, or in the presence of isolated oro-facial edema, the identification of a non-caseating granuloma on a muco-cutaneous biopsy of the subject. Approximately one-third (38/116; 32.8%) of the patients in our literature review of MRS paediatric cases presented with the complete clinical triad [2,3,4,7,10,13,14,16,17,18,20,21,26,28,30,31,33,34,35,36,37,38,39]. As reported in adults, orofacial oedema is the most frequent symptom of MRS, with 63 of 116 children affected (54.3%; Table 1) [2,3,4,5,6,7,10,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,33,34,35,36,37,38,39].…”

“…Facial palsy can affect one or both sides, partially or completely [2]. In our review, facial palsy affected 61/116 (52.6%) paediatric cases with onset under the age of 18 (Table 1) [2,3,4,6,7,10,12,13,14,15,16,17,18,19,20,21,22,25,26,28,30,31,33,34,35,36,37,38,39]. Of the 41 cases in which side involvement was specified, 16 (39.5%) had recurrent homolateral facial palsy (eight left [4,10,16,17,26,28,31,35] and eight right [2,3,10,16,36,38,39]), 24 (58.5%) had alternating unilateral palsy [2,6,7,12,13,15,17,18,19,20,21,26,33,34,37], and one last patient (2.4%) experienced recurrent synchronous bilateral palsy [18].…”