An unusual case of Lemierre's syndrome presenting as pyomyositis

Fusobacteria are most often associated with the classic presentation of Lemierre's syndrome consisting of a sore throat, internal jugular vein thrombophlebitis, and septic emboli to the lungs. Unusual presentations due to the causative organism, F. necrophorum, may occur. We present such a case involving a 17-year-old male patient with pyomyositis and fasciitis due to necrobacillosis. Fusobacterium spp. should be considered in the differential diagnosis of cases involving sepsis syndrome and pyomyositis.     

An unusual case of generalized oedema

We present the case of a 66-year-old woman with generalized oedema and pain in the four limbs. Physical examination revealed a diffuse, painful, partly pitting, oedema of forearms, hands, lower legs and feet. There were no signs of synovitis. Laboratory investigation was non relevant, except for mild eosinophilia, which normalized subsequently. Cardiac, nephrological and venous disturbances were excluded. More uncommon disorders, such as eosinophilic fasciitis, early stage of scleroderma and polymyositis were considered. MRI scanning of the right forearm revealed an increased signal intensity in the superficial muscle fibers and thickening of the fascia (figure 1). Subsequently a full thickness biopsy of the musculus flexor digitorum superficialis was performed, revealing an inflammatory infiltration of lymphocytes and eosinophils, localized in the fascia. There was no necrosis of muscle fibers. No signs of scleroderma were found. The biopsy confirmed the diagnosis of eosinophilic fasciitis. Clinical and MRI findings suggested an early stage of disease and the patient was treated with low-dose corticosteroids.     

An unusual case of undifferentiated connective tissue disease presenting as cardiac tamponade

Cardiac tamponade as an initial manifestation of undifferentiated connective tissue diseases (UCTD) is extremely rare, with only one case reported in literature thus far. We describe here, a case of a middle-aged man who presented with symptoms of fatigue, exertional dyspnea and orthopnea. His physical exam was significant for anasarca, elevated JVP and pulsus paradoxus. Chest X-ray showed pleural effusions and cardiomegaly, electrocardiogram revealed electrical alternans and a transthoracic echocardiogram demonstrated massive pericardial effusion with hemodynamic compromise. There was clear evidence of tamponade on right heart catheterization. All common causes of pericardial effusion were assiduously excluded before working up the patient for connective tissue disorders, which revealed a high antinuclear antibody titer (1:160), grossly elevated SSA, SSB antibodies and increased C-reactive protein levels (13.04 mg/dl). Patient had no signs or symptoms suggestive of systemic sclerosis (xerophthalmia or xerostomia) and did not meet criteria for any other known connective tissue diseases. He was therefore diagnosed with UCTD, and successfully treated with colchicine after emergency pericardiocentesis. This case presents UCTD as a rare cause of cardiac tamponade and large pericardial effusions and suggests that colchicine can be used to treat UCTD-associated effusions. These patients once diagnosed, are at risk of developing known connective tissue diseases within 5 years of disease onset and should be followed up in clinic periodically.     

Organic aciduria in neonatal multiple carboxylase deficiency

A Samoan patient and a Saudi-Arabian patient were found to have abnormalities in the pattern of organic acid metabolites characteristic of 3-methylcrotonylglycinuria, propionic acidaemia and lactic acidosis. Both patients died early in life. The metabolic pattern is diagnostic of multiple carboxylase deficiency and an enzymatic diagnosis was made in a subsequent affected sibling of the first patient. Deficiency of the three carboxylases suggests a primary defect in the metabolism of biotin which is required for their activity. The importance of the recognition of the clinical picture is highlighted by the fact that this lethal disease is readily treated with biotin. These patients have prominent skin lesions which can serve as alerting signs for the diagnosis.     

Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency

Multiple carboxylase deficiency could be associated with defects of the immunoregulatory system. A boy with documented multiple carboxylase deficiency was found to display a fatty acid and biotin-responsive impairment of his lymphocyte suppressive activityin vitro. Furthermore, prostaglandin E₂ (PGE₂), a major product of unsaturated fatty acid elongation required forin vitro activation of the immunoregulatory system, was found to be very low in the patient's monocytes. Finally, PGE₂ monocytic production responded well to biotin therapy. PGE₂ deficiency could result from the combination of an essential fatty acid deficiency with an impaired elongation of unsaturated fatty acids possibly due to a defect of the biotin-dependent acetyl-CoA carboxylase reaction.     

Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities

Summary An 8-year-old boy with late onset multiple carboxylase deficiency is described. Biotinidase deficiency and holocarboxylase-synthetase deficiency have been excluded. A very slow biochemical response to biotin was found. The decrease in urinary organic acid excretion followed first-order kinetics with a half-life of about 50 days. The initially low carboxylase activities in thrombocytes were increased but not normalized after 3 months of treatment.     

Function of granulocytes with deficient myeloperoxidase-mediated iodination in a patient with generalized pustular psoriasis.

The granulocytes of a patient with generalized pustular psoriasis (GPP) were found to have impaired ability to fix iodine after ingestion of yeast particles. Since hexose monophosphate shunt (HMS) activity was increased and the contents of 3 other lysosomal enzymes, beta-glucuronidase, N-acetyl-beta-glucosaminidase and lysozyme, were within normal range, the impaired iodination appeared to be due to a selective defect of myeloperoxidase (MPO) activity within the phagocytic cells. The deficient iodination was accompanied by a decreased intracellular killing of E. coli and C. albicans. Since hexose monophosphate shunt activity was enhanced and azide and cyanide inhibited the intracellular killing of E. coli only moderately, the patient's granulocytes may possess azide- and cyanide-resistant, MPO-independant microbicidal systems coupled to the oxidative metabolism. Assessment of granulocyte iodination and enzyme contents of the relatives of the patient revealed no hereditary transmission. Since GPP is characterized by the development of subcorneal pustules containing granulocytes, the MPO-deficiency may be the cause of or enhance the development of the disease.