Abstract
Mixed connective tissue disorder (MCTD) is a multisystem disease with overlapping features of other autoimmune diseases, such as systemic lupus erythematosus (SLE), myositis, rheumatoid arthritis, and scleroderma. MCTD presents with a distinctive antibody in serum known as U1-ribonucleoprotein (RNP). MCTD is quite rare as compared to other connective tissue disorders like SLE, systemic sclerosis, dermatomyositis, and polymyositis. We describe a case of MCTD in a young Asian female of 30 year old. This case highlights rare co-existence of polyneuropathy and autoamputation in MCTD disorder. Trigeminal neuralgia and cranial nerve involvements have been previously reported in MCTD but the findings of polyneuropathy and autoamputation are extremely rare.
Highlights
We describe a case of Mixed connective tissue disorder (MCTD) in a young Asian female of 30 year old
Mixed connective tissue disease (MCTD), first described in 1972 by Sharp, represents an overlapping disease of different autoimmune conditions such as systemic lupus erythematosus (SLE), scleroderma, rheumatoid arthritis, polymyositis, and dermatomyositis that often exist with antibodies targeted towards the U1 small nuclear ribonucleoprotein (RNP) autoantigen [1]
Neurological involvement is common among patients with MCTD
Summary
Mixed connective tissue disease (MCTD), first described in 1972 by Sharp, represents an overlapping disease of different autoimmune conditions such as systemic lupus erythematosus (SLE), scleroderma, rheumatoid arthritis, polymyositis, and dermatomyositis that often exist with antibodies targeted towards the U1 small nuclear ribonucleoprotein (RNP) autoantigen [1]. Pain is moderate to severe in intensity, aggravated by movement with no special time of occurrence or morning stiffness and not associated with redness or swelling; relieved by medications She developed bilateral lower limb weakness three months back which was of gradual onset and progressive in nature; associated with numbness in both feet. She was initially able to walk with support, but for the past two weeks she has become bed bound. She was followed up every month since and after four months, the patient recovered from most of her complaints except lower limb weakness which persists even after treatment
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