Dramatic etanercept-induced remission of relapsing febrile sciatic neuralgia related to p46l mutation of the tnfrsf1a gene.

An adult patient experienced attacks of severe low back pain and sciatic neuralgia for several years, sometimes associated with myalgias, skin lesions, and high fever. Specific inflammatory laboratory tests were the major abnormalities. P46L mutation in the gene on chromosome 12p13 that encodes tumor necrosis factor receptor superfamily 1A (TNFRSF1A) was found. Management with anti-TNF agent was effective with a complete remission of bouts of pain and fever.

Acute polyarthritis revealing hepatitis E.

We report a case of acute hepatitis E occurring in a 51-year-old French woman, revealed by an abrupt onset of polyarthritis involving the ankles and knees followed by the wrists and fingers. Polyarthritis lasted up to 3 months without recurrence. Our case was characterised by a 9-month prolonged viraemia with persistence of specific IgM in the serum. The hepatitis E virus belonged to genotype 3 and may have been contracted in France or during travel to hyperendemic areas. Our case shows that acute polyarthritis could be another systemic manifestation of hepatitis E virus infection.

Lysozyme amyloidosis: report of 4 cases and a review of the literature.

Autosomal dominant hereditary amyloidosis represents not 1 disease but a group of diseases, each the result of mutations in a specific protein. The most common form is transthyretin amyloidosis, which has been recognized clinically for over 50 years as a familial polyneuropathy. Nonneuropathic amyloidoses (Ostertag type amyloidosis) include those due to abnormalities in lysozyme, fibrinogen Aalpha-chain, and apolipoprotein A-I and A-II. The role of lysozyme in amyloid-related human disorders was first described in 1993; to date, there have been only 9 publications describing this disorder, which is a nonneuropathic form of hereditary amyloidosis. Reported cases have involved 7 unrelated families. We describe here our own experience with 4 families suffering from lysozyme amyloidosis: the first had prominent renal manifestations with sicca syndrome, the second and third had prominent gastrointestinal symptoms, and the fourth had a dramatic bleeding event due to rupture of abdominal lymph nodes. To our knowledge, this last symptom has not been reported previously, but is reminiscent of the hepatic hemorrhage seen in a previously reported case of a patient with lysozyme amyloidosis. To characterize the manifestations of this disorder, we performed an exhaustive literature review.Although hereditary amyloidosis is thought to be a rare disease, it is probably not as rare as we think and may well be underdiagnosed. Moreover, some cases of lysozyme amyloidosis are probably confused with acquired monoclonal immunoglobulin light-chain (AL) amyloidosis, formerly known as primary amyloidosis, which is the most frequent type of amyloidosis. Because treatment for each type of amyloidosis is different, and because therapy directed at 1 type may worsen symptoms of the other types, it is important to determine precisely the nature of the amyloid protein. Thus, hereditary lysozyme amyloidosis should be considered in all patients with systemic amyloidosis, particularly in patients who present with renal, gastrointestinal, or bleeding complications without evidence of AL or AA (secondary) amyloidoses.

Multiple cutaneous angiomas and Poems syndrome.

INTRODUCTION: Poems syndrome is characterized by polyneuropathy, organomegaly, endocrinopathy, M-proteins, and skin lesions. CASE: We describe here a case in which the eruption of diffuse cutaneous angiomas in a woman with a history of bone plasmocytoma and progressive polyneuropathy helped physicians to diagnose Poems syndrome. DISCUSSION: Other manifestations of Poems syndrome in this patient included endocrine dysfunction (hypothyroidism, adrenal insufficiency, and hypogonadism), sclerotic bone lesions of the femoral shaft, ribs, and vertebral body, monoclonal gammopathy, and anasarca. Steroid treatment led to dramatic improvement of polyserositis and a generally good outcome, despite persistence of the cutaneous lesions. This case points out this unusual cutaneous manifestation associated with Poems syndrome.

Sequential development of perinuclear ANCA-associated vasculitis and anti-glomerular basement membrane glomerulonephritis.

A 75-year-old man suffered from perinuclear antineutrophil cytoplasm antibody (p-ANCA)-associated vasculitis with mild renal involvement. Three years later, he suddenly experienced an anuric acute renal failure due to anti-glomerular basement membrane (GBM) disease. Antibodies to myeloperoxydase were continuously present at a high titer in the patient's serum while serum anti-GBM antibodies were only detected at the time of the acute renal failure. A substantial proportion of patients with anti-GBM glomerulonephritis simultaneously display ANCAs whose pathogenic role is not clear. In our case, ANCAs were supposed to be of pathogenic importance because they may have uncovered the Goodpasture antigen. This case report lends further support to the concept that p-ANCA vasculitis may trigger anti-GBM disease.

Benign intracranial hypertension and thyreostimulin suppression hormonotherapy.

PURPOSE: To report a case of benign intracranial hypertension occurring during thyreostimulin suppression hormonotherapy after thyroidectomy for papillary cancer. DESIGN: Interventional case report. METHODS: A 45-year-old woman underwent total thyroidectomy for a 7-mm papillary cancer. Seventeen years later, she experienced headache, dizziness, irritability, sensation of full head, and blurred vision of the right eye while being treated with a mix of L thyroxin (LT4) and liothyronin (LT3). Ophthalmological data (including the presence of papilledema), cerebroorbital magnetic resonance imaging, and lumbar pressure evaluation confirmed benign intracranial hypertension. RESULTS: Substitutive hormonotherapy was decreased under specialized surveillance, permitting remission of benign intracranial hypertension symptoms and papilledema. CONCLUSIONS: Benign intracranial hypertension is usually difficult to cure, and its association with thyroid hormonotherapy is rare. In our patient, tapering LT4 and withdrawal of LT3 until a euthyroidal state was obtained resulted in successful treatment of benign intracranial hypertension.

Fibrotic valvular heart disease subsequent to bromocriptine treatment.

Ergot alkaloids, such as ergotamine, have been associated with numerous vascular complications and with valvular heart disease. The authors describe a man who developed fibrosis of three heart valves during a 5-year treatment with bromocriptine for Parkinson disease. There were no other plausible causes. To our knowledge, such a side effect has never been described with this drug.

Bilateral iliac vein thrombosis after seat belt-related trauma revealing hypoplasia of the inferior vena cava--a case report.

Hypoplasia of the inferior vena cava can be revealed by a deep venous thrombosis of the lower limbs. Associated precipitating factors or clotting defects leading to thrombosis are frequently observed. A case of bilateral iliac veins thrombosis occurring after a motor vehicle accident with seat belt injury is reported, revealing hypoplasia of the inferior vena cava. This young man was totally asymptomatic up to the crash, and did not have coagulation abnormalities. The patient had a very good outcome after anticoagulant treatment with complete regression of venous thromboses. Hypoplasia of the inferior vena cava was a predisposing anatomic abnormality that led to thrombosis, but seat belt trauma was probably the precipitating factor. This observation should be kept in mind in the evaluation of a deep venous lower limb thrombosis.

[Psychosis revealing a silent celiac disease in a young women with trisomy 21]. / Psychose révélant une maladie coeliaque silencieuse chez une jeune femme ayant une trisomie 21.

INTRODUCTION: Down's syndrome is characterized by an abnormal frequency of coeliac disease and by the frequent occurrence of neurological disorders such as Alzheimer-type dementia of early onset. However, psychosis is rare in Down's syndrome. OBSERVATION: We report the case of a 41-year-old woman, who presented with Down's syndrome. She was living with her parents and had a normal social life. She suddenly experienced some esthesic hallucinations, depression, anorexia, affective flattening and autistic behavior. Biological evaluation revealed macrocytosis, polyclonal IgA and IgG hypergammaglobulinemia and strong positivity for anti-gliadin antibodies of IgG and IgA isotypes. Brain CTscan was normal. Since digestive specimen biopsies did not evidence villous atrophy, we concluded in a silent coeliac disease. After 12 months of gluten-free diet a spectacular and lasting improvement of both psychotic and depressive symptoms was obtained. DISCUSSION: The effects of abnormal interaction between the immune system and gluten can be expressed not only in the gut (coeliac disease) but also in the brain (psychosis) in genetically predisposed patients, such as those suffering from Down's syndrome. There was evidence for brain disorder related to coeliac disease in our patient. CONCLUSION: Our case report shows that, before concluding in Alzheimer-type dementia in Down's syndrome, a biological search for coeliac disease is useful since a gluten-free diet may improve the psychiatric symptoms.

Low prevalence of anti-RNA polymerase III antibodies in a French scleroderma population: anti-RNA polymerase III scleroderma.

BACKGROUND: Anti-RNA polymerase III antibodies (anti-RNAP III) have been reported as potential immune markers of Systemic Sclerosis (SSc). Until now, their clinical use was disregarded because of technical difficulties to perform immunoprecipitation. Recently, ELISA kits became commercially available allowing an easy detection of anti-RNAP III. We intended to clarify the relevance of these antibodies in the diagnosis of SSc by ELISA detection. METHODS: The prevalence of anti-RNAP III was analyzed using two ELISA kits in 50 consecutive SSc patients from Marseilles in South of France. Controls included 66 patients with other systemic autoimmune diseases, 34 viral diseases and 50 healthy subjects. Positive results with at least one ELISA kit were controlled by immunoprecipitation which is the reference assay. RESULTS: In this study, positivity for anti-centromere and/or anti-topoisomerase I antibodies was observed in 84% of SSc patients. The prevalence of anti-RNAP III in SSc patients was 0% to 6% (3/50) depending on the ELISA kit and only 2% by immunoprecipitation. Concerning controls, two rheumatoid arthritis patients were positive using ELISA (6%), including one with immunoprecipitation confirmation. No anti-RNAP III was detected in systemic lupus erythematosus patients. Three blood donors and one viral disease control were positive using ELISA, but all were negative by immunoprecipitation. CONCLUSIONS: Anti-RNAP III was rarely detected in a French population of SSc patients. Their prevalence was even lower than the one observed in rheumatoid arthritis controls. Therefore local immunologic profiles should be established before deciding a change in clinical practice for SSc immune screening.

Association between a CTGF gene polymorphism and systemic sclerosis in a French population.

OBJECTIVE: Systemic sclerosis (SSc) is a life-threatening autoimmune disease characterized by chronic fibrosis of the skin and internal organs. Connective tissue growth factor (CTGF) is believed to be a primary mediator of chronic fibrosis. We assessed the possible association between 7 single-nucleotide polymorphisms (SNP) in the CTGF gene and scleroderma in a French population (registration number 2006/0182). METHODS: We conducted a case-control study with 241 scleroderma patients and 269 controls. Seven SNP were genotyped using the TaqMan system. Univariate and multivariate analyses were performed. In silico electrophoretic mobility shift assay (EMSA), and reverse transcriptase polymerase chain reaction analyses were done to assess the effect of the SNP on CTGF gene expression. RESULTS: The frequency of the rs9399005TT genotype was significantly lower in SSc patients than in controls. This association remained significant after adjustment for gender. An association was detected between the rs9399005 and the diffuse and limited cutaneous forms. Multivariate analysis between SSc patients and controls taking into account all 7 SNP and sex revealed that only sex and the rs9399005 SNP were associated with disease. DNA analysis by EMSA indicated that the T allele bound nuclear factors that were also bound by the C allele. The binding affinity was higher for the T allele. Analysis of the human database and experiments with human hepatocyte cell line indicated the existence of an alternative transcript containing the rs9399005 polymorphism in its 3'UTR region. In silico analysis indicated that this polymorphism may alter the structure of CTGF messenger RNA. CONCLUSION: These findings suggest that CTGF gene polymorphisms may contribute to susceptibility to scleroderma.

Painful jaundice revealing Kawasaki disease in a young man.

Liver involvement is usually a minor manifestation of Kawasaki disease and includes hepatobiliary dysfunction or gallbladder hydrops. We describe here an unusual case of jaundice revealing an adult onset Kawasaki disease. An 18-year-old man presented with abdominal pain and jaundice associated with cholestasis as the initial manifestation of Kawasaki disease. Abdominal evaluation (ultrasonography and CT-scan) did not find abnormality. Other signs typical of the Kawasaki disease occurred a few days later and permitted diagnosis. With aspirin and intravenous immunoglobulins, outcome was favorable without any cardiovascular complication. Our case suggests that Kawasaki disease should be added to the etiological list of painful febrile icterus in young patients.

Severe relapsing polychondritis occurring after ear piercing.

We describe a case of relapsing polychondritis with laryngo-tracheal involvement, occurring after ear piercing in a 39-year-old woman. Polychondritis was clearly time-related to ear piercing. This association draws attention to the risk of relapsing polychondritis during body art practices with cartilage trauma.

Periaortitis heralding Wegener's granulomatosis.

We describe a 47-year-old man who successively presented atheromatous coronary artery disease, cholesterol embolism after angioplasty, periaortitis with presence of c-ANCA, and finally typical pulmonary lesions caused by Wegener's granulomatosis. This case illustrates the link between atheromatous and inflammatory process and emphasizes that periaortitis may be a feature of Wegener's granulomatosis.

A family with gastrointestinal amyloidosis associated with variant lysozyme.

Hereditary nonneuropathic systemic lysozyme amyloidosis is a very rare form of amyloidosis, and only 4 families with this condition have been detailed until now in the literature. Clinical manifestations of lysozyme amyloidosis observed until now mainly concerned the kidneys, liver, and digestive tract. We report here a new family with hereditary lysozyme amyloidosis who presented predominantly with gastrointestinal involvement. The proband, a middle-aged woman, underwent partial gastrectomy for a hemorrhagic "gastric peptic ulcer" in 1984. Gastrointestinal amyloidosis was diagnosed in 1998 on biopsies performed on the gastroduodenal anastomosis, which appeared to be very congestive at presentation. Immunohistochemical stainings in tissue sections were positive for lysozyme. Amyloid was also observed in the colonic mucosa. The patient had a mutation in the lysozyme gene characterized by substitution of the amino acid at position 64 in the mature protein from tryptophan to arginine, previously described in only 1 French family with prominent nephropathy. It is interesting to note that her father had died many years before with an uncharacterized digestive amyloidosis. Our observation shows that a search for gastrointestinal amyloidosis is important, particularly when physicians are faced with congestive mucosa, unexplained abdominal hemorrhage, or abdominal symptoms. When gastrointestinal amyloidosis is diagnosed, it is important to determine with precision the nature of the amyloid fibril proteins, because various types of amyloidosis can involve the gastrointestinal tract.