[Difficult diagnosis of Erdheim Chester disease revealed by central diabetes insipidus]. / Le cas clinique du mois : Diagnostic difficile d'une maladie d'Erdheim Chester révélée par un diabète insipide central.

The Erdheim Chester disease is a rare form of non Langerhans cell histiocytosis. Its rarity and its unspecific clinical presentation, make that its diagnosis is often delayed. We report the case of a 50 years old female who has an Erdheim Chester disease, revealed by a central diabetes insipidus with thickening of the pituitary stalk, with associated gonadotropin deficiency. The Erdheim Chester disease was suspected because of the association with other evocative systemic lesions: eyelid xanthelasmas and bone lesions in metaphyseal-diaphyseal region of the upper and lower ends of both femurs and tibias on bone scan. Confirmation of the diagnosis was initially difficult and delayed, with initially inconclusive cutaneous and bone biopsies. It is the histological re-reading with immunohistochemical study of the bone biopsies which allowed the diagnosis by showing histiocytes positive for the CD68 and negative for the CD1a and the protein S100. The diagnosis was made with a delay of 3 years. In conclusion, although rare, Erdheim Chester disease should be suspected in front of a set of clinical and radiological arguments. Diagnostic confirmation is based on histological and especially immunohistochemical studies.

La maladie d'Erdheim Chester est une forme rare d'histiocytose non langerhansienne. Par sa rareté et son tableau clinique peu spécifique, son diagnostic est souvent retardé. Nous rapportons le cas d'une patiente âgée de 50 ans ayant une maladie d'Erdheim Chester révélée par un diabète insipide central avec épaississement de la tige pituitaire à l'IRM cérébrale et insuffisance gonadotrope associée. Cette maladie a été suspectée devant l'association d'autres atteintes systémiques évocatrices : des lésions cutanées à type de xanthélasmas sus-palpébraux de couleur jaune-orange et une atteinte osseuse au niveau métaphyso-diaphysaire des extrémités supérieures et inférieures des deux fémurs et tibias objectivée à la scintigraphie osseuse. La confirmation du diagnostic était initialement difficile et retardée, avec des biopsies cutanée et osseuse initialement non concluantes. C'est la relecture histologique avec étude immuno-histochimique des biopsies osseuses qui ont permis le diagnostic en montrant des histiocytes positifs pour le CD68 et négatifs pour le CD1a et la protéine S100. Le diagnostic positif a été posé avec un retard de 3 ans par rapport à la première consultation. En conclusion, bien que rare, la maladie d'Erdheim Chester devrait être suspectée devant un faisceau d'arguments cliniques et radiologiques. La confirmation diagnostique repose sur l'étude histologique et, surtout, immuno-histochimique.

[Iron deficiency anemia in people aged 65 years and older: a cohort study of 102 patients]. / Anémies ferriprives chez les personnes âgées de 65 ans et plus: Etude d'une cohorte de 102 patients.

PURPOSE: Iron deficiency anemia is a common hematological abnormality in the older people. The aim of this study is to determine the clinical and biological characteristics and causes of the iron deficiency anemia in elderly patients. PATIENTS AND METHODS: We performed a retrospective study of 102 patients aged 65 years and older who were hospitalized for iron deficiency anemia in the internal Medicine Department of Mahdia University Hospital, over a 8-year period (January 2005 to December 2012). RESULT: A total of 184 patients aged 65 years or older were hospitalized for anemia during the study period. Iron deficiency was diagnosed in 102 (55.4%) of the patients, 58 were men (56.9%) and 44 were women (43.1%). The mean age was 74.7 +/- 6.3 years. The mean hemoglobin level was 7 +/- 1.7 g/dl. At least one cause of anemia was diagnosed in 90.2% of cases. A gastrointestinal bleeding was the most common etiology (70.5%). Non-steroidal anti-inflammatory drugs and anticoagulants intake were reported in 19.6% of cases. Multiple causes of gastrointestinal bleeding were identified in 12.7% of patients. Chronic gastrointestinal ulcers were the most frequent etiology (25.5%). The frequency of gastrointestinal cancers was 11.7%. CONCLUSION: Iron deficiency was the first cause of anemia in the elderly in our study. Occult bleeding from gastrointestinal lesions was the commonest cause and iron deficiency anemia in the elderly caused by an unknown etiology was rare.

[Pulmonary embolism and Behçet's disease]. / Embolie pulmonaire et maladie de Behçet.

Pulmonary embolism is an unusual complication of Behçet's disease. Our aim study is to analyse epidemiological, physiopathological and evolutive aspects of this condition. Among 153 patients with Behçet's disease according to the criteria of the International Study Group for Behçet's disease, seven (5 men and 2 women mean aged at 26.6 +/- 6 years) were diagnosed as having pulmonary embolism. This was inaugural in 3 cases; for 2 females, pulmonary embolism complicated pregnancy. Cardiac thrombosis was presented in 2 cases and pulmonary aneurysm in 2 patients. Pulmonary infarction has been noted in 4 cases. Protein C, protein S and antithrombin III levels were normal in all cases. One patient was positive for IgG anticardiolipin antibody. The hyperhomocysteinemia has been noted (17 to 30 micromol/) in 5 cases. All our patients were treated successfully by anticoagulation therapy combined with high dose prednisone, colchicine and intravenous cyclophosphamide in 6 patients. Pulmonary embolism is one of the severe and worst prognostic manifestations of the disease. Furthermore, the hyperhomocysteinemia may play an important role in the pathogenesis of such complication. Immunomodulation therapy associated to folate may be beneficial to attenuate this hyperhomocysteinemia especially, when introduced in the early stages.

[Incidence and causes of visual impairment in the district of Mahdia, in east Tunisia: Retrospective study of 1487 cases]. / Incidence et causes de déficiences visuelles au Gouvernorat de Mahdia, à l'est de la Tunisie : étude rétrospective à propos de 1487 cas.

OBJECTIVE: To study socio-demographic characteristics and main causes related to visual impairment (VI) as a function of age bracket and to analyze their trends over time in the district of Mahdia. METHOD: A retrospective review was performed on 1487 cases of visual impairment registered with the social authorities in Mahdia, between 1980 and 2013. The social, demographic, vision exam findings and causes were ascertained and analyzed in an SPSS database. Incidence rates of VI and blindness due to various causes were calculated based on the demographic data from the NSI to estimate the time trends using the general linear regression model and Spearman correlation. RESULTS: Analyses included 1487 participants with a median age of 47 years, 40.6% of cases were aged under 45 years. Children accounted for 11.1% (165 patients), while age was between 16 and 45 years in 29.5% (439 patients), between 46 and 65 years in 31.5% (469 patients) and greater than 65 years in 27.8% (414 patients). The sex-ratio (M/F) was 1.78. Socially, 51% came from rural areas, 62% were illiterate, and 84% were unemployed. We observed blindness in 70% of participants and low vision in 30%. In children, the causes were dominated by congenital cataract and congenital glaucoma, each present in 31 children (18.8%). Between 16 and 45 years, glaucoma and hereditary dystrophies of the retina were found in 62 and 61 patients respectively (14% each). For age between 46 and 65 years, trachoma was responsible for 19.8% of cases of VI, glaucoma in 15.8% and cataract in 15.1%. Beyond 65 years, glaucoma accounted for 30.7% of the causes of VI and cataract 27.8% of cases. Trend analysis shows a significant increase in the incidence rate of visual impairment with an average of 12% per year (P=0.001). The mean age increased by 46% (P=0.003). Trachoma increased by 118% (P<0.0001) between 1980 and 1990, then declined by 42% (P=0.0013) between 1991 and 2013. Incidence of VI significantly increased by 4% for cataract (P=0.001), 23% (P=0.001) for glaucoma and 20% (P=0.02) for diabetic retinopathy, while VI related to refractive errors and AMD showed no significant change. CONCLUSION: Advanced age, lower educational and socio-economic status were associated with bilateral VI. Age related eye problems are the main causes of VI, and their incidence is tending to increase. Public health policies and procedures should be targeted to risk related populations and age-related diseases in order to control the incidence of visual impairment and avoid its consequences.

[Benzylthiouracil-induced antineutrophil cytoplasmic antibody-associated cutaneous vasculitis: a case report and literature review]. / Vascularite cutanée à anticorps anti-cytoplasme des polynucléaires neutrophiles induite par le benzylthio-uracile : à propos d'un cas et revue de la littérature.

INTRODUCTION: Vasculitis associated to antineutrophil cytoplasmic antibodies is a rare complication of therapy with antithyroid medication. They were mainly reported in patients treated with propylthiouracil and rarely with benzylthiouracil. CASE REPORT: We report a 22-year-old woman treated with benzylthiouracil for Graves' disease, who developed a vasculitic skin involvement. The presence of antineutrophil cytoplasmic antibodies with anti-myeloperoxidase specificity was documented. The discontinuation of benzylthiouracil was followed by a complete disappearance of skin lesions and of antineutrophil cytoplasmic antibodies. CONCLUSION: To our knowledge, only ten cases of antineutrophil cytoplasmic antibodies vasculitis induced by benzylthiouracil have been previously reported in the literature. Our patient was characterized by the occurrence of isolated cutaneous vasculitis, without renal involvement. Early discontinuation of benzylthiouracil may have prevented the occurrence of severe visceral complication.

Hashimoto's thyroiditis and severe hypothyroidism, associated with a single hot nodule.

We report the case of a 27 year-old man with symptoms of severe hypothyroidism that have evolved since his adolescence. He was found to have an 11 mm right lobe thyroid nodule. On thyroid ultrasound, the nodule was solid, heterogeneous with markedly atrophic hypoechoic surrounding tissue. Thyroid scintigraphy revealed increased (99m)Tc pertechnetate and (131)I uptake, with persistence of (131)I hyperfixation after 24 h. There was no fixation of the radiotracer in the remaining tissue. Thyroid function tests found TSH > 100 mIU/l, free thyroxine level 0.9 pmol/l (normal values 11.5-21.8), anti-thyroid peroxydase antibodies strongly positive > 1,000 IU/ml, and anti-thyroglobulin antibodies negative. One year after levothyroxine therapy, the nodule decreased to 40% of its original size. Hashimoto's thyroiditis may present as a single hot nodule and severe hypothyroidism. Data of reported cases suggest that the hot nodule corresponds to a localized hyperplasia of the less diseased portions of the thyroid. Chronic stimulation by TSH may have promoted nodular growth and isotopes uptake.

Tiroiditis de Hashimoto e hipotiroidismo severo, asociado con un solo nódulo caliente / Hashimoto's thyroiditis and severe hypothyroidism, associated with a single hot nodule

Se presenta el caso de un hombre de 27 años de edad con síntomas de hipotiroidismo severo en evolución desde la adolescencia, y un nódulo tiroideo de 11 mm en el lóbulo derecho. En la ecografía del tiroides, el nódulo era sólido, heterogéneo y con un tejido notablemente atrófico hipoecoico alrededor. La gammagrafía tiroidea reveló un aumento en la captación en el nódulo tanto del 99mTc-pertecnetato como del 131I, con persistencia de la captación de 131I en la imagen de 24 h. No se observó fijación del radiotrazador en el resto de la glándula. Los análisis mostraron unos niveles séricos de TSH > 100 mUI/l, tiroxina libre 0,9 pmol/l (11,5-21,8), anticuerpos antitiroperoxidasa positivo > 1.000 UI/ml y anticuerpos antitiroglobulina negativos. Un año después del tratamiento con levotiroxina, el nódulo redujo en un 40% su tamaño original. La tiroiditis de Hashimoto puede presentarse como un solo nódulo caliente e hipotiroidismo severo. Datos reportados sugieren que el nódulo caliente corresponde a una hiperplasia localizada de las porciones menos dañadas del tiroides. La estimulación crónica por TSH puede haber favorecido el crecimiento nodular y la captación de los isótopos(AU)

We report the case of a 27 year-old man with symptoms of severe hypothyroidism that have evolved since his adolescence. He was found to have an 11 mm right lobe thyroid nodule. On thyroid ultrasound, the nodule was solid, heterogeneous with markedly atrophic hypoechoic surrounding tissue. Thyroid scintigraphy revealed increased 99mTc pertechnetate and 131I uptake, with persistence of 131I hyperfixation after 24 h. There was no fixation of the radiotracer in the remaining tissue. Thyroid function tests found TSH > 100 mIU/l, free thyroxine level 0.9 pmol/l (normal values 11.5-21.8), anti-thyroid peroxydase antibodies strongly positive > 1,000 IU/ml, and anti-thyroglobulin antibodies negative. One year after levothyroxine therapy, the nodule decreased to 40% of its original size. Hashimoto's thyroiditis may present as a single hot nodule and severe hypothyroidism. Data of reported cases suggest that the hot nodule corresponds to a localized hyperplasia of the less diseased portions of the thyroid. Chronic stimulation by TSH may have promoted nodular growth and isotopes uptake(AU)