PURPOSE OF REVIEW: We aim to illustrate the potential viability of MCTD as an 
underlying aetiology of Melkersson-Rosenthal syndrome. The case is probably the 
first description available in the literature of the Melkersson-Rosenthal as an 
early manifestation of mixed connective tissue disease.
RECENT FINDINGS: The Melkersson-Rosenthal syndrome consists of a triad of 
recurrent lip and/or face swelling, fissured tongue, and intermittent facial 
palsy. Mixed connective tissue disease is a multisystemic disorder with 
overlapping features of systemic lupus erythematosus, scleroderma, and 
polymyositis, and is differentiated from them by a high titer of antibodies to 
ribonucleoprotein. The paper presents a case report of Melkersson-Rosenthal 
syndrome with an onset in childhood that derived from vasculitis that turned out 
to be an early manifestation of mixed connective tissue disease. We used MRI to 
evaluate patient's brain structure and Immunoblot Ena Profil 1 test to test 
serum autoantibodies level. The patient has a typical for Melkersson-Rosenthal 
syndrome triad of symptoms: bilateral facial nerve palsy, lingua plicata and 
facial oedema. Both TC and MRI of the head show no changes as well as laboratory 
tests except Anti-SS-A (Anti-Ro) and Anti-RNP autoantibody serum level that was 
highly positive. Neurological involvement of the MCTD usually includes, 
according to the frequency of the occurrence, trigeminal neuralgia, headaches, 
sensorineural hearing, cerebral haemorrhage, transverse myelitis, cauda equina 
syndrome, retinal vasculitis, progressive multifocal encephalopathy, and 
demyelinating neuropathy. For clinical practice it is important to remember that 
Melkersson-Rosenthal syndrome can also be the neurological manifestation of 
MCTD, especially when accompanied by other systemic symptoms.