Case report

Melkersson-Rosenthal syndrome associated with Guillain-Barré syndrome

DOI: https://doi.org/10.4414/SANP.2021.w10056
Publication Date: 16.11.2021
Swiss Arch Neurol Psychiatr Psychother. 2021;172:w10056

Martha L. Bravo-Vasquez a, b, c, Fitzgerald A. Arroyo-Ramirez a, b, d, Miguel Pinto-Salinas a, e, Miriam Vélez-Rojas f, Luis  Torres-Ramirezf

Universidad Nacional Mayor de San Marcos, Lima, Peru

b Asociación para el Desarrollo de la Investigación Estudiantil en Ciencias de la Salud (ADIECS), Lima, Peru

Federación Internacional de Asociaciones de Estudiantes de Medicina – UNMSM (IFMSA – UNMSM), Lima, Peru

Centro de Investigaciones Tecnológicas, Biomédicas y Medioambientales (CITBM), Callao, Peru

e Sociedad Científica de San Fernando (SCSF), Lima, Peru

f Neurologists, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.

Summary

Melkersson-Rosenthal syndrome is a rare neuromucocutaneous disorder of idiopathic aetiology. Its presentation has been associated with autoimmune diseases. We present the case of a 56-year-old male patient who developed Melkersson-Rosenthal syndrome associated with Guillain-Barré syndrome. The patient had an excellent response to treatment with plasmapheresis, and physiotherapy and rehabilitation.

To our knowledge, this is the first report of an association between Guillain-Barré syndrome and Melkersson-Rosenthal syndrome.

Introduction

Melkersson-Rosenthal syndrome (MRS) is a rare clinical neuromucocutaneous syndrome of idiopathic aetiology; however, it is attributed to a genetic, allergic, or immune origin [1, 2]. The classic triad consists of orofacial oedema, recurrent peripheral facial paralysis and fissured tongue [1].

On the other hand, Guillain-Barré syndrome (GBS) presents bilateral, ascending motor paralysis with areflexia of unknown aetiology. However, 50% to 70% of cases have been described 2 weeks after an infection or other autoimmune stimulus [3]. This condition occurs as a result of antibodies that generate an immunological response to myelin sheath gangliosides [4].

The relationship between MRS and autoimmune diseases has been documented in sarcoidosis, Crohn's disease, anterior unilateral uveitis and Hashimoto's thyroiditis [2], but there is no report of an association with GBS. We present the case of a 56-year-old man who developed MRS associated with GBS successfully treated with plasmapheresis.

Case report

A 56-year-old man with type 2 diabetes mellitus for 2 years, controlled with diet and metformin 850 mg daily, and grade 1 obesity (body mass index of 31.58 kg/m​2) presented with loss of muscle strength in the lower limbs with a sudden onset and a progressive ascending course, and paraesthesia in hands and feet starting 4 days before admission. On the day of admission (12 December 20169), he had facial diplegia, macroglossia with a fissured tongue, oedema, and paraesthesia of the lower lip (figs 1A and B), loss of strength of the lower limbs up to the thighs (MRC scale: 3), in the upper limbs (MRC scale: 4), and in the chewing and mimicry muscles, and generalised hyporeflexia. He was transferred to the hospital with the diagnoses of type 2 diabetes mellitus, GBS and MRS.

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Figure 1:

A) Bilateral Bell's sing and lower lip edema. B) Bilateral Bell's sing and fissured tongue. C) Left lateral view evidence of lower lip edema. D) One month after discharge.

The results of laboratory tests at hospitalisation showed hyperglycaemia, mild hyperbilirubinaemia (predominatly direct) and hypertransaminasaemia.Sstudy of cerebrospinal fluid showed albumin-cytological dissociation (proteins: 201 mg/dl, cells: 1 leucocyte/mm3), and Pandy and Nonne-Apelt 2 (+). Needle electromyography recorded voluntary motor units absentin the facial muscles, but present in the lower and upper right limbs. Motor nerve conduction studies showed hypovoltage of motor potentials in the upper and lower limbs and both facial nerves, prolongation of distal latencies, absence of F wave, and a bilateral H reflex. Furthermore, sensory nerve conduction tests revealed absence of sensory potentials in the upper limbs.

The in-hospital clinical evolution did not show warning signs in the first days, so conservative management of GBS was initially preferred. Later, when he developed respiratory distress, two plasmapheresis sessions were performed, conservative management with expectant management of the MRS was chosen, and antihypertensive treatment was initiated owing to a diagnosis of primary arterial hypertension.

The patient was discharged on a low-sodium low-glucose diet, metformin 850 mg daily, and losartan 50 mg daily. Two weeks after discharge, a lower lip biopsy was performed in which nonspecific findings were found. After a 1-year follow-up, the patient was without complications and an excellent response to physical therapy and rehabilitation (fig. 1C and D).

Discussion

This report describes the case of an adult male who presented the complete triad of MRS concomitant with GBS. MRS incidence has been described as 0.08% of the population, mainly in women in the second decade of life, without predilection for race or ethnicity [5]. A complete presentation of the classic triad of MRS is very unusual, found in about 8% to 18% of cases [6]. The most frequent sign is orofacial oedema characterised by being acute, diffuse, painless, and predominantly on the lips (between 50% and 75% of cases) [7]. Due to the frequent oligosymptomatic presentation with orofacial oedema, it is recommended to consider sarcoidosis in the differential diagnoses [2], or if it presents with facial diplegia, it should be considered a variant of GBS [8].

There were nonspecific findings in the lower lip biopsy; however, this was taken 2 weeks after discharge. Dhawan et al. reported that histopathological findings can be negative in subacute or chronic stages. In these cases, or when there is no access to a biopsy, the clinical picture is sufficient to make the diagnosis of MRS [9]. On the other hand, the presence of granulomatous cheilitis in the biopsy with one or two clinical manifestations may be sufficient to diagnose monosymptomatic or oligosymptomatic forms of MRS [6].

Although our case had bilateral facial paralysis on just one occasion, described as an unusual manifestation in GBS [10], it should not be ruled out in the differential diagnosis of MRS owing to the other signs of triad, orofacial edema and fissured tongue. In addition, the negative lip biopsy in our case does not rule out the diagnosis of MRS either because the diagnosis can be clinical, as described by Bohra et al. [11].

The relationship between MRS and autoimmune diseases has been documented in Crohn's disease, anterior unilateral uveitis, multiple sclerosis, systemic lupus erythematosus, psoriatic arthritis and Hashimoto’s thyroiditis (table 1). The highest number of association reports are for Crohn’s disease, with whom it shares the microscopic findings of non-caseating granulomas [12].

Table 1:

Reported cases of MRS associated with some autoimmune disease.

SourceSexAge(years)Clinical presentationBiopsy (Result)Associated disease
Scagliusi et al. [2]F52Orofacial edema and facial pain attacksNoHashimoto’s thyroiditis
Lee et al. [13]F9Right RPFP, fissured tongue, and painless edema of the left zygomatic region and upper lipNoHashimoto’s thyroiditis
Aksu et al. [14]F57RPFP, persistent edema of the upper lip, and fissured tongueNoHashimoto’s thyroiditis
Bouomrani et al. [15]M39Alternating unilateral RPFP, macroglossia, and fissured tongueYes (+)Hashimoto’s thyroiditis
Frąckowiak et al. [16]F32RPFP, fissured tongue, and recurrent cheilitis of the upper lipYes (+)Hashimoto’s thyroiditis
Lloyd et al. [17]F19Upper lip edemaYes (+)Crohn’s disease
Ilnyckyj et al. [18]F30Recurrent edema of the lips and genitalsYes (+)Crohn’s disease
De Aloe et al. [19]F23Recurrent upper lip edema and facial dysesthesiaYes (+)Crohn’s disease
Ates et al. [20]M35Orofacial edema, RPFP, and fissured tongueYes (-)Anterior unilateral uveitis
Degirmenci et al. [21]F23RPFP, moderate orofacial edema, and fissured tongueNoSystemic lupus erythematosus
Martins et al. [22]M45RPFP, recurrent lip edema, and fissured tongueYes (+)Celiac disease
Gaudio et al. [23]F42Right RPFP and right facial and upper lip edemaYes (+)Psoriatic arthritis
Cabrera-Gómez et al. [24]F51RPFP, fissured tongue, right hemiparesis, and pale optic discsNoMultiple sclerosis

M: male; F: female; RPFP: recurrent peripheral facial palsy.

There is no standard treatment for MRS; it depends on the severity of the symptoms. The initial treatment is conservative, waiting for a spontaneous resolution followed by physical therapy and rehabilitation. The most widely used therapy is intralesional administration of corticosteroids, which leads to improvement in 50% to 80% of patients and reduces the frequency of relapses in 60% to 75% of cases [9].

Conclusion

To our knowledge, this is the first report of an association between MRS and GBS. Further research is needed to address the relation between MRS and autoimmunity.

Funding source

Self-financed.

Correspondence

Fitzgerald A. Arroyo-Ramirez

Universidad Nacional Mayor de San Marcos

755 Grau Av., Lima 1

Peru

fitzgerald.arroyo[at]unmsm.edu.pe

References

1. Klii R, Chebbi W. Syndrome de Melkersson-rosenthal: une entité rare à ne pas méconnaitre [Internet]. Pan Afr Med J. 2015;21:33. [cited 2020 Sep 23] Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564408/  http://dx.doi.org/10.11604/pamj.2015.21.33.6962 1937-8688

2. Scagliusi P, Sisto M, Lisi S, Lazzari A, D’Amore M. Hashimoto’s thyroiditis in Melkersson-Rosenthal syndrome patient: casual association or related diseases? Panminerva Med. 2008 Sep;50(3):255–7. PubMed 0031-0808

3. Schessl J, Luther B, Kirschner J, Mauff G, Korinthenberg R. Infections and vaccinations preceding childhood Guillain-Barré syndrome: a prospective study. Eur J Pediatr. 2006 Sep;165(9):605–12. http://dx.doi.org/10.1007/s00431-006-0140-1 PubMed 0340-6199

4 Willison HJ, Jacobs BC, Doorn van PA. Guillain-Barré syndrome. The Lancet. Elsevier; 2016;388:717–27.

5. Gerressen M, Ghassemi A, Stockbrink G, Riediger D, Zadeh MD. Melkersson-Rosenthal syndrome: case report of a 30-year misdiagnosis. J Oral Maxillofac Surg. 2005 Jul;63(7):1035–9. http://dx.doi.org/10.1016/j.joms.2005.03.021 PubMed 0278-2391

6. Dodi I, Verri R, Brevi B, Bonetti L, Balestrier A, Saracino A A monosymptomatic Melkersson-Rosenthal syndrome in an 8-year old boy. Acta Biomed. 2006 Apr;77(1):20–3. PubMed 0392-4203

7. Zimmer WM, Rogers RS, Reeve CM, Sheridan PJ. Orofacial manifestations of Melkersson-Rosenthal syndrome. A study of 42 patients and review of 220 cases from the literature. Oral Surg Oral Med Oral Pathol. 1992 Nov;74(5):610–9. http://dx.doi.org/10.1016/0030-4220(92)90354-S PubMed 0030-4220

8. Piñol G, Larrodé P, González-Miró I, Tejero C, Iñiguez C, Santos S Diplejia facial: variante regional del síndrome de Guillian-Barré. An Med Interna (Madrid) [Internet]. 2007 [cited 2020 Nov 23];24. Available from: http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0212-71992007000100006&lng=es

9. Dhawan SR, Saini AG, Singhi PD. Management Strategies of Melkersson-Rosenthal Syndrome: A Review. Int J Gen Med. 2020 Feb;(13)61–5. http://dx.doi.org/10.2147/IJGM.S186315 PubMed 1178-7074

10. García AJ, García Y. Facial diplegia as a presentation of Guillain-Barré syndrome. Rev Medical Sciences [Internet]. 2016 Jun [cited 2021 Jun 20]; 20 (3): 100-103. Available at: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1561-31942016000300018&lng=es

11 Bohra S, Kariya PB, Bargale SD, Kiran S. Clinicopathological significance of Melkersson-Rosenthal syndrome. BMJ Case Rep. 2015;bcr 2015210138. DOI: http://dx.doi.org/10.1136/bcr-2015-210138 .

12. Geboes K. Histopathology of Crohn’s disease and ulcerative colitis. Inflamm Bowel Dis. 2003.1078-0998This reference lacks page numbers. Please proof carefully. (Ref. 12 "Geboes, 2003")Please indicate if the reference is "in press"; if not, please provide volume and page numbers. (Ref. 12 "Geboes, 2003")

13. Lee YJ, Cheon CK, Yeon GM, Kim YM, Nam SO. Melkersson-Rosenthal syndrome with Hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorder. Pediatr Neurol. 2014 May;50(5):503–6. http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.010 PubMed 1873-5150

14. Aksu K, Kurt E. A case of Melkersson-Rosenthal syndrome associated with autoimmune hypothyroidism. Asthma Allergy Immunol. 2013;11:131–3.

15. Bouomrani S, Lamloum I, Mesfar R. Melkersson-Rosenthal syndrome associated to Hashimoto’s thyroiditis. Iberoam J Med. Hospital San Pedro (Logroño). Servicio de Urgencias. 2020;2:124–6.Edifix does not recognize the journal "Servicio de Urgencias". If this is a valid journal title, please send this reference to journals@inera.com for addition to our journal database. (Ref. 15 "Bouomrani, Lamloum, Mesfar, 2020")Edifix has not found an issue number in the journal reference. Please check the volume/issue information. (Ref. 15 "Bouomrani, Lamloum, Mesfar, 2020")

16. Frąckowiak L, Wroński K, Kańczuga-Koda L, Koda M. Melkersson-Rosenthal syndrome in a patient with Hashimoto disease. Prog Health Sci. Uniwersytet Medyczny w Białymstoku. 2014;4:269–72.

17. Lloyd DA, Payton KB, Guenther L, Frydman W. Melkersson-Rosenthal syndrome and Crohn’s disease: one disease or two? Report of a case and discussion of the literature. J Clin Gastroenterol. 1994 Apr;18(3):213–7. http://dx.doi.org/10.1097/00004836-199404000-00008 PubMed 0192-0790

18. Ilnyckyj A, Aldor TA, Warrington R, Bernstein CN. Crohn’s disease and the Melkersson-Rosenthal syndrome. Can J Gastroenterol. 1999 Mar;13(2):152–4. http://dx.doi.org/10.1155/1999/501435 PubMed 0835-7900

19. De Aloe G, Rubegni P, Mazzatenta C, Fimiani M. Complete Melkersson-Rosenthal syndrome in a patient with Crohn’s disease. Dermatology. 1997;195(2):182. http://dx.doi.org/10.1159/000245729 PubMed 1018-8665

20. Ates O, Yoruk O. Unilateral anterior uveitis in Melkersson-Rosenthal syndrome: a case report. J Int Med Res. 2006 Jul-Aug;34(4):428–32. http://dx.doi.org/10.1177/147323000603400413 PubMed 0300-0605

21. DEĞİRMENCİ Y. KOBAK C, HAYRETDAĞ C, ÖZIŞIK H. Melkersson-Rosenthal Syndrome in a Patient with Systemic Lupus Erythematosus: A Rare Comorbidity. Turk J Rheumatol [Internet]. 2012;27. Available from: https://www.researchgate.net/profile/Senol_Kobak/publication/279040838_Melkersson-Rosenthal_Syndrome_in_a_Patient_with_Systemic_Lupus_Erythematosus_A_Rare_Comorbidity/links/576155e008aeeada5bc4f713.pdf

22. Martins JA, Azenha A, Almeida R, Pinheiro JP. Melkersson-Rosenthal syndrome with coeliac and allergic diseases. BMJ Case Rep. 2019 Aug;12(8):e229857. http://dx.doi.org/10.1136/bcr-2019-229857 PubMed 1757-790X

23 Gaudio A, Corrado A, Santoro N, Maruotti N, Cantatore FP. Melkersson-Rosenthal Syndrome in a Patient with Psoriatic Arthritis Receiving Etanercept. Int J Immunopathol Pharmacol. SAGE Publications Ltd; 2013;26:229–33.

24. Cabrera-Gómez JA, Echazabal-Santana N, Real-González Y, Romero García K, Junior Sobrinho M, Gil Ocaña MA Hereditary Melkersson-Rosenthal syndrome and multiple sclerosis. Mult Scler. 2005 Jun;11(3):364–6. http://dx.doi.org/10.1191/1352458505ms1164cr PubMed 1352-4585

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