Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?

Peripheral facial palsy rarely occurs as part of Melkersson-Rosenthal syndrome (MRS), which is characterized by the classical triad of tongue cheilitis, recurrent episodes of orofacial swelling, and palsy. MRS is a disorder with variable expressivity and clinical as well as genetic heterogeneity; however, the causative gene remains to be identified. Migraine is a common neurological disorder, presenting with or without aura, which may be associated with neurological symptoms. The classical example of monogenic migraine is familial hemiplegic migraine (FHM), which has phenotypic variability in carriers of variants in the same gene or even carriers of the same variant. We present a family in which two sisters displayed recurrent migraines, one of which presented recurrent facial palsy and had clinical diagnosis of MRS. We performed WES and Sanger sequencing for segregation analysis in the available family members. We identified a c.3521C>G missense heterozygous variant in SCN1A carried only by the affected sister. Variants in the SCN1A gene can cause a spectrum of early-onset epileptic encephalopathies, in addition to FHM; therefore, our finding reasonably explains the proband phenotype, in which the main symptom was recurrent facial palsy. This report also adds knowledge to the clinical spectrum of SCN1A alterations and suggests a potential overlap between MRS and FHM.

A case of complete Melkersson-Rosenthal syndrome: Possibly associated with Mycolicibacterium fortuitum from odontogenic origin.

Melkersson-Rosenthal syndrome (MRS) is a neuromucocutaneous disease of unknown pathogenesis. With this communication, we describe a case of a 26-year-old woman with complete MRS in whom Mycolicibacterium fortuitum was detected in the swelling lip biopsy by next- generation sequencing. The patient's symptoms were slightly improved after intralesional corticosteroid injection combined with broad-spectrum antibiotics, while they were significantly improved after further treatment of dental caries and removal of the residual root. This case provides insight into the possible microbial infection pathogenesis of MRS, and M. fortuitum was speculated to be related to granulomatous and neuronal disorders, most probably from odontogenic origin.

Surgical Treatment Outcome for Familial Melkersson-Rosenthal Syndrome.

BACKGROUND Recurrent facial nerve palsy, orofacial edema, and fissured tongue are a triad of manifestations that characterize a rare disorder named Melkersson-Rosenthal syndrome. It is important to consider this syndrome when diagnosing atypical, unilateral, or bilateral facial palsies with characteristics of familial prevalence. There is no established outcome prediction for this disease and the syndrome does not have a specific duration or prospective timeline. Recurrent facial paralysis can require surgery and a multidisciplinary approach with regular follow-up. CASE REPORT We describe a 38-year-old woman presenting with a third episode of facial paralysis and discuss her pedigree chart and the treatment course chosen. After conservative treatment with oral corticosteroids, antiviral therapy, and motor physical therapy with no significant improvements, the patient underwent facial nerve decompression surgery with outstanding results. Eight months after surgery and intense postoperative physical therapy, the patient improved from grade VI to grade II palsy on the House-Brackmann Scale. The patient's older brother also presented a fissured tongue and had a history of 2 episodes of facial paralysis. The patient's son, mother, and sister also presented tongue fissuring but did not have any other clinical signs of the syndrome. CONCLUSIONS Despite being rare, Melkersson-Rosenthal syndrome is associated with a family inheritance and its diagnosis has prognostic implications. Therefore, it is of the utmost importance to have suspicion of this disorder in order to improve quality of care and target the treatment accordingly. Surgical treatment in these cases seems to be an excellent choice to treat current facial paralysis and prevent further episodes.

Melkersson-Rosenthal syndrome in the context of sarcoidosis: a case report.

BACKGROUND: Melkersson-Rosenthal syndrome is a rare disease characterized by the triad of recurrent orofacial swelling with facial paralysis and fissured dorsal tongue. Histologically, noncaseating granulomatous inflammation occurs that confirms the diagnosis. Overlaps between granulomatous diseases such as sarcoidosis and Crohn's disease are described. Systemic corticosteroid therapy is the treatment of choice for acute attacks. CASE PRESENTATION: We here present a case of a 59-year-old White woman suffering from Melkersson-Rosenthal syndrome with a past history of sarcoidosis on therapy with leflunomide in combination with low-dose tacrolimus successfully treated with the anti-leprosy drug clofazimine after failure of systemic steroid therapy. CONCLUSIONS: We propose clofazimine as an alternative treatment in steroid-refractory cases.

A Case of Melkersson-Rosenthal Syndrome Treated With 5-FU.

The rarity of Melkersson-Rosenthal syndrome, or orofacial granulomatosis, can present with persistent midface bogginess. The management for previous reported cases has included corticosteroid injections, antihistamines, and antibiotics. In the current reported case, the patient was treated with 5-fluorouracil and has been responding positively. Additionally, the patient has not shown signs of steroid atrophy.

Rare diagnosis of Melkersson-Rosenthal syndrome in a paediatric patient.

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.

Parálisis facial periférica recidivante como manifestación inicial del síndrome de Melkersson-Rosenthal / Recurrent peripheral facial palsy as an initial manifestation of Melkersson-Rosenthal syndrome

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Panuveitis revealing Melkersson Rosenthal syndrome: a case report.

AIM: To describe a case of panuveitis revealing Melkersson Rosenthal syndrome (MRS). CASE REPORT:   A 35-year-old female with a history of bilateral chronic idiopathic panuveitis was referred for work up. On examination, her visual acuity was 3/10 in the right eye and limited to hand motion in the left eye. Slit lamp examination revealed posterior synechiae and vitritis more severe in the left eye. Fundus examination showed bilateral vascular sheathing with no retinitis or choroiditis. Fluorescein angiography revealed bilateral occlusive retinal vasculitis. A careful questioning of the patient revealed the history of relapsing facial paralysis with palpebral edema. The work up ruled out an underlying infectious disease, especially ocular tuberculosis. Examination of the internist revealed a cheilitis and a fissured tongue. The diagnosis of MRS was made and the patient was treated with systemic corticosteroids and scatter laser treatment of retinal nonperfusion areas. CONCLUSION: MRS is a rare disorder. Ocular involvement, especially uveitis, is uncommon. Clinicians should be aware of this syndrome to avoid misdiagnosis and extensive work up.

[Recurrent peripheral facial nerve palsy]. / Parálisis facial periférica recurrente.

BACKGROUND: Melkersson-Rosenthal syndrome is a rare disorder that is characterized, in its full form, by recurrent facial nerve palsy, fissured tongue, and orofacial edema. Most cases present as oligosymptomatic or monosymptomatic forms. Its etiology is still unknown and its course is chronic and it may be progressive. CASE REPORT: We present the case of a nine-year-old girl with recurrent episodes of peripheral facial nerve palsy. During the study, lip edema, benign migratory glossitis, and angular cheilitis were observed, which is why a clinical diagnosis of Melkersson-Rosenthal syndrome was made. CONCLUSIONS: This syndrome must be considered in the differential diagnosis with the presence of acute peripheral facial nerve palsy and/or facial edema due to its behavior and progressive evolution.

Antecedentes: El síndrome de Melkersson-Rosenthal es una entidad poco frecuente caracterizada, en su forma completa, por parálisis facial recurrente, lengua fisurada y edema orofacial. La mayoría de los casos se presentan como formas oligosintomáticas y monosintomáticas. Su etiología es aún desconocida y tiene un curso crónico que puede ser progresivo. Caso clínico: Presentamos el caso de una niña de nueve años de edad con episodios recurrentes de parálisis facial periférica. Durante su estudio se observó edema labial, glositis migratoria benigna y queilitis angular, por lo que se formuló el diagnóstico clínico de síndrome de Melkersson-Rosenthal. Conclusión: Debemos considerar este síndrome dentro del diagnóstico diferencial ante la presencia de parálisis facial periférica recurrente o edema facial, debido a su comportamiento y evolución progresiva.

Melkersson-Rosenthal syndrome with coeliac and allergic diseases.

A 45-year-old man presented with a 10-year history of relapsing oedema of the lips. Moreover, he exhibited recurrent facial nerve palsy since the age of 10 years, coeliac disease since the age of 12 years, atopic eczema, allergic rhinitis and asthma. Physical examination revealed lip swelling and lingua plicata. Thus, he presented the classic triad of Melkersson-Rosenthal syndrome which includes recurrent orofacial oedema, facial nerve palsy and fissured tongue. A lip biopsy confirmed our clinical diagnosis.This case is particularly rare, as the classic triad is seen only in a minority of the cases. Moreover, allergic and coeliac diseases were observed concomitantly. This paper illustrates a potential pathophysiological interconnection between these pathologies in which interferon gamma could play a key role. To our knowledge, this is the first case report in which Melkersson-Rosenthal syndrome has been observed concurrently with coeliac disease.

A 30-year follow-up study of patients with Melkersson-Rosenthal syndrome shows an association to inflammatory bowel disease.

Background: Melkersson-Rosenthal syndrome (MRS) is often classified under the term orofacial granulomatosis (OFG). A part of OFG patients eventually develop Crohn's disease (CD), but the relationship between MRS and CD is unknown. Goals: To evaluate the long-term outcomes of MRS patients, with specific interest in bowel-related symptoms. Study: This follow-up study consisted of adult patients with MRS - including the monosymptomatic form, cheilitis granulomatosa (CG) - who had participated in our earlier MRS study (diagnosed after 1995 in Helsinki University Hospital). A phone interview was conducted with 27 patients (77.1% of the patients from the earlier study) and included questions about orofacial symptoms, facial palsy, intestinal symptoms, concomitant illnesses, medications, possible food avoidances and family history. Stool samples were collected to measure faecal calprotectin, a surrogate marker for intestinal inflammation. Results: The median follow-up time from symptom onset was 30 years. Three (11.1%) patients had developed inflammatory bowel disease (IBD); one CG patient developed CD, and two MRS patients with facial palsy developed ulcerative colitis. In addition, several other patients reported intestinal symptoms, but the examination of faecal calprotectin did not indicate intestinal inflammation. Conclusions: There was a connection between MRS and IBD - not only CD but ulcerative colitis as well. Key message Melkersson-Rosenthal syndrome (MRS) is a chronic condition often classified as a subtype of orofacial granulomatosis. Oral manifestations are common in MRS. We found a connection between MRS and inflammatory bowel disease, not only Crohn's disease but ulcerative colitis as well.

For Whom the Bell's Toll: Recurrent Facial Nerve Paralysis, A Retrospective Study and Systematic Review of the Literature.

PURPOSE: To examine the etiology, clinical course, and management of recurrent peripheral facial nerve paralysis. METHODS: Retrospective review at a single tertiary academic center and systematic review of the literature. Clinical presentation, laboratory and imaging findings, treatment and outcome for all cases of recurrent ipsilateral, recurrent contralateral, and bilateral simultaneous cases of facial paralysis are reviewed. RESULTS: Between 2000 and 2017, 53 patients [41.5% men, 29 median age of onset (range 2.5 wk-75 yr)] were evaluated for recurrent facial nerve paralysis at the authors' institution. Twenty-two (41.5%) cases presented with ipsilateral recurrences only, while the remaining 31 patients (58.5%) had at least 1 episode of contralateral recurrent paralysis. No cases of bilateral simultaneous facial nerve paralysis were observed. The median number of paretic events for all patients was 3 (range 2-20). The median nadir House-Brackmann score was 4, with a median recovery to House-Brackmann grade 1.5 over a mean recovery time of 61.8 days (range 1-420 d). Diagnostic evaluation confirmed Melkersson-Rosenthal syndrome in four (7.5%) cases, neurosarcoidosis in two (3.7%), traumatic neuroma in one (1.9%), Ramsay Hunt syndrome in one (1.9%), granulomatosis with polyangiitis in one (1.9%), and neoplastic causes in three (5.7%) cases [facial nerve schwannoma (n = 2; 3.7%), metastatic squamous cell carcinoma to the deep lobe of the parotid gland (n = 1; 1.9%)]; ultimately, 77.4% (41) of cases were deemed idiopathic. Facial nerve decompression via a middle cranial fossa approach was performed in three (5.7%) cases without subsequent episodes of paralysis. CONCLUSION: Recurrent facial nerve paralysis is uncommon and few studies have evaluated this unique population. Recurrent ipsilateral and contralateral episodes are most commonly attributed to idiopathic facial nerve paralysis (i.e., Bell's palsy); however, a subset harbor neoplastic causes or local manifestations of underlying systemic disease. A comprehensive diagnostic evaluation is warranted in patients presenting with recurrent facial nerve paralysis and therapeutic considerations including facial nerve decompression can be considered in select cases.

Idiopathic macrocheilia.

A 13-year-boy presented with painless swelling of upper and lower lips accompanied with gingival enlargement. The aetiology for these symptoms included vast pathological varieties but none of them could fit in. Clinical features were similar to orofacial graulomatosis but histopathological examination revealed chronic non-specific infection. Therefore, the final diagnosis was made as idiopathic macrocheilia through exclusion criteria. Management with intralesional triamcinolone acetonide 40 mg, twice a week for 3 weeks, resulted in significant remission in lip swelling without recurrence after a 6-month follow-up.

Síndrome de Miescher: una causa poco frecuente de tumefacción labial / Miescher syndrome: an uncommon cause of recurrent swelling of the lips

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