Case of rare association of peripheral neuropathy with mixed connective tissue disorder

Chronic inflammatory demyelinating polyneuropathy (CIDP) is probably the best-recognised progressive immune-mediated peripheral neuropathy. It presents with symmetrical, motor predominant peripheral neuropathy that produces both distal and proximal weakness. Here we report a case of a 38-year-old man who presented with chronic additive large and small joint inflammatory polyarthritis, associated with morning stiffness, anasarca associated with frothy urine and progressive episodic, relapsing and remitting, sensorimotor lower motor neuron type quadriparesis without any bladder and bowel involvement. He was diagnosed as a case of CIDP, and the aetiology was found out to be mixed connective tissue disorder, which is a rare association with CIDP. The patient responded dramatically to glucocorticoid.

Posterior reversible encephalopathy syndrome as the first manifestation of mixed connective tissue disorder: a case report

Background Posterior reversible encephalopathy syndrome (PRES) is a neurological syndrome characterised by a range of neurological symptoms and signs, and distinctive neuroimaging findings reflecting vasogenic oedema. Posterior reversible encephalopathy syndrome has been described in association with many autoimmune diseases, but its association with mixed connective tissue disorder (MCTD) is very rare. After an extensive review of the literature, we found only three cases of posterior reversible encephalopathy syndrome in association with mixed connective tissue disorder. But unlike other cases, in our patient, PRES is the presenting manifestation of mixed connective tissue disorder which is first of its kind. Case presentation We present a 30-year-old female from Southern India who had initially reported with complaints of fever, multiple episodes of vomiting and cough with expectoration. She had accelerated hypertension and moderate thrombocytopenia. Two days later, she developed sudden onset of visual disturbances and had a drop in sensorium. Neuroimaging done was suggestive of atypical posterior reversible encephalopathy syndrome, and autoimmune workup was positive for mixed connective tissue disorder. With prompt blood pressure control and anti-seizure medications, she recovered completely. Conclusion Early diagnosis and prompt control of blood pressure, along with anti-seizure measures, play a crucial role in management. Awareness about this rare association is essential for early diagnosis and treatment, and therefore reducing the risk of permanent neurologic deficits. This case is being reported because of its rarity.

A case of autoimmune hypothyroidism presented as overlap syndrome of mixed connective tissue disorder

Mixed connective tissue disease is a distinct complex overlap disorder characterised by combination of clinical features of systemic lupus erythematosus, systemic sclerosis, polymyositis and rheumatoid arthritis. Higher levels of anti-U1-ribonucleoprotein (anti-U1RNP) antibody has been found in these patients. 39 year old female, known case of hypothyroidism, came with complaints of multiple joint pains with swelling associated with morning stiffness of fingers since last 2 years. She also had dryness of skin, loss of appetite, constipation, difficulty in swallowing and dyspnea on exertion since last 2 months. Considering the joint pains an antinuclear antibody (ANA) was sent. She turned out to be RNP, Sm, Ro 52, Mi-2 positive. Anti-CCP, rheumatoid factors (RA), Raynaud’s phenomenon all were positive. Rheumatologist opinion was taken and she was diagnosed as mixed connective tissue disorder with hypothyroidism. Patient was successfully treated with immunosuppressants and supportive measures and responded well to tablet methotrexate, prednisone, nifedipine and hydroxychloroquine. Our patient had one major and 3 minor criteria: anti RNP antibody positive, Raynaud’s phenomenon, swollen fingers and synovitis. Thus, diagnosed as mixed connective tissue disease.

Castleman’s disease associated with mixed connective tissue disorder and cerebral ischaemia and vasculitis: A rare case and a diagnostic challenge for an infectologist

Introduction. Castleman's disease (CD) or angiofolicullar lymph node hyperplasia is a rare pathologic process characterized by non-neoplastic reactive proliferation of lymphoid tissue. Mimicking clinical and laboratory signs of infection, it could be a great diagnostic problem for an infectologist. Case report. We report a case of a 39-year old man who was initially clinically suspected to have an infectious central nervous system (CNS) affection, having most similar appearance to neurotuberculosis. Malignancy with bone metastases and lymphoma were also among many possible diagnoses. The patient was later histologically confirmed to have Castleman's disease, analyzing the enlarged inguinal lymph node, which was the key point in rejecting the suspicion of malignancy and tuberculosis. By further analyses, the patient was diagnosed to have mixed connective tissue disorder (MCTD). Vasculitis of mesencephalon and thalamus was detected by magnetic resonance imaging. Conclusion. CD with CNS involvement is very rare as well as CD with MCTD association, making this case even more unique. This case report underlines the importance of definitive histological diagnosis in patients with lymphadenopathia associated with systemic involvement and the need of additional immunological and radiological examinations, as well.

Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD)

Chondrodysplasia punctate (CDP) is a rare group of disorders with both genetic and non-genetic underlying aetiologies. The genetic causes associated with CDP include peroxisomal disorders, type two mucolipidosis, type 3 mucopolysaccharidosis, GM1 gangliosidosis and chromosomal disorders. Peroxisomal disorders include deficiency of dihydroxyacetone phosphate acyltransferase, encoded by GNPAT, deficiency of the peroxisomal enzyme alkyl-dihydroxyacetone phosphate synthase, encoded by AGPS and Zellweger syndrome. The chromosomal disorders include Turner syndrome, trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome) and trisomy 9. Among non-genetic causes, teratogen exposure like warfarin and acenocoumarol is well known but for the past few years cases have been reported with maternal autoimmune disease mainly systemic lupus erythematosus and rarely with mixed connective tissue disorder (MCTD). However, the exact mechanism for the occurrence of CDP in MCTD is still unknown. We present here a 35-week appropriate for gestational age baby born to a second gravid mother, a known case of MCTD on treatment with hydroxychloroquine. The baby had mid-facial hypoplasia and bilateral talar region punctuate calcification suggestive of chondrodysplasia punctata. Global data on such cases are very scant. Further research work is needed to explore the association of specific antibody titre with the occurrence of such condition in maternal autoimmune disease.