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J Serratrice

Publications and source records attributed to J Serratrice.

At least 37 records · Page 2Linked to original sources
PubMed2003

CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes.

The Muckle-Wells syndrome is a rare autosomal dominant disorder belonging to the group of hereditary fever syndromes. The chronic infantile neurological cutaneous and articular (CINCA) syndrome is a systemic inflammatory disorder of unknown etiology with neonatal onset. They are considered as two different entities. We report the case of a 36-year-old man suffering since birth from a nonpruritic generalized urticaria, with inflammatory flares, joint manifestations and progressive deafness requiring a bilateral hearing aid. An initial diagnosis of Muckle-Wells syndrome was made. However, the patient had an unusual clinical presentation with slightly dysmorphic facial appearance, clubbing of the fingers, mild mental retardation and papilledema. After a genetic advice, a diagnosis of CINCA syndrome was made. Search for mutations in the CIAS1 gene revealed a new mutation in a heterozygous state. This case report really raises the question of a link between these two inflammatory diseases. Further studies are needed to confirm the involvement of mutations of the CIAS1 gene in CINCA syndrome.

Adult↗
PubMed2003

[Clinical and radiological features and clinical course of orbital myositis].

Orbital myositis is idiopathic inflammation of the extraocular muscles in the absence of thyroid orbitopathy and often is included under broad description pseudotumor. We report here a series of three cases. Data from literature, combined with our own results yield a distinguishing pattern of orbital myositis suggesting that the term "orbital pseudotumor" is no longer a useful concept. The diagnostic criteria purposed here are: acute orbital pain exacerbated on eye movement; enlargement of one or more extraocular muscles with the respect of other orbital structures on muscle CT scan; absence of clinical and biological thyroid dysfunction: absence of signs of anterior uveitis or scleritis or visual decrease; rapid response to immunomodulator treatment.

Adult↗
PubMed2003

[Guillain-Barré syndrome revealing visceral leishmaniasis in an immunocompetent woman].

Visceral leishmaniasis is an endemic parasitic infection rarely observed in association with Guillain-Barré syndrome in immunocompetent patients. A 40-year-old immunocompetent woman was admitted to our unit with recent onset difficulty in walking. The neurological examination and electrophysiological study led to the diagnosis of Guillain-Barré syndrome. During hospitalization, she developed cytopenia involving all three lines revealing visceral leishmaniasis. A few cases of visceral leishmaniasis with neuropathy have been reported, mainly in tropical regions. Neuropathological manifestations of visceral leishmaniasis are probably underestimated. The question is whether Guillain-Barré syndrome and visceral leishmaniasis are causally related.

Adult↗
PubMed2002

[Heyde syndrome].

OBJECTIVE: Heyde's syndrome associates aortic stenosis and digestive hemorrhage secondary to intestinal angiodysplasia. OBSERVATION: A 61 year-old man presented with anemia due to martial deficiency and melena, the endoscopic examination of which was negative. The existence of a tight aortic stenosis, suspected on auscultation, suggested the diagnosis of Heyde's syndrome. Angiodysplasia is revealed during oriented enteroscopy. Following valve replacement, the need for transfusion disappeared, together with the anemia. DISCUSSION: Although some epidemiological studies deny the existence of this syndrome, the observation of authentic cases of resolution of digestive bleeding following surgical replacement of an aortic valve, such as ours, is an argument in favor of the reality of Heyde's syndrome.

Angiodysplasia↗
PubMed2002

[Retrospective study of 55 patients with circulating blood T gama/delta lymphocytosis].

PURPOSE: Gamma/delta T lymphocytes constitute a singular population due to their particular antigenic recognition and their localization inside the epithelium. Their functions are complementary to those of the alpha/beta T-cells and they are involved in the defense and regulation of the immune system. Their role in human diseases is not very well understood and the aim of our study was to analyze a population of patients with a peripheral gamma/delta T-cell lymphocytosis. METHODS: The study included 55 patients, recruited from 1997 to 2000, with a peripheral gamma/delta T lymphocytosis (defined by a proportion of gamma/delta T-cells of over 10% of total peripheral T lymphocytes). Analysis of the lymphocyte population was obtained by cytometry after peripheral blood sampling. RESULTS: Three main groups of diseases were observed: infectious diseases (viral infections and tuberculosis), inflammatory diseases (sarcoidosis and autoimmune diseases) and blood diseases (monoclonal gammopathies and hemopathies). Persistence of gamma/delta T lymphocytosis was dependent on the underlying disease (transitional when associated with an infectious disease and lasting when associated with sarcoidosis). The rest of the immunophenotyping analysis was usually normal. CONCLUSION: Our results confirm the data published in the literature concerning the role of the gamma/delta T lymphocytes in infectious, inflammatory and autoimmune diseases and neoplasias. These data are in agreement with the cytotoxic and regular functions of these lymphocytes.

Adolescent↗
PubMed2002

[Camptocormia: a sign of axial myopathy. Report of 7 cases].

PURPOSE: Camptocormia or progressive lumbar kyphosis is an anterior bend of the trunk. It appears in orthostatism or while walking and is reducible in the decubitus position. It concerns patients older than 60 years of age. It is due to a fatty degeneration of the paravertebral muscles, although the physiopathology remains unclear. METHODS: We report seven cases of camptocormia revealing authentic myopathies. RESULTS: Our observations concern five women and two men of 55 to 72 years of age. All patients present lumbar kyphosis and had a fatty involution of the paraspinal muscles on the muscular MRI. Four patients fulfilled the Bohan and Peter criteria of polymyositis and dermatomyositis. In the other cases paravertebral muscular biopsies led to the diagnosis of a congenital myopathy, a mitochondrial myopathy and an amyloid myopathy. Four patients received a corticosteroid-immunoglobulins or cyclosporin regimen. An improvement in the camptocormia was observed in three cases. In the other cases the treatment consisted of chemotherapy on account of severe nephrotic syndrome, a coenzyme-Q treatment for the patient with mitochondrial myopathy and only physiotherapy in the case of congenital myopathy, but without positive effect on camptocormia. CONCLUSION: Camptocormia appears as a muscular symptom that may reveal an axial myopathy due to multiple and varied pathologies. Thus, the discovery of camptocormia requires an aetiological investigation in order to propose an adequate treatment, which should be associated with physiotherapy.

Aged↗
PubMed2002

Sarcoidosis preceding chronic myelomonocytic leukemia. Report of two cases.

We report 2 patients who had sarcoidosis with skin involvement associated with bilateral anterior uveitis. During the follow-up, they developed chronic myelomonocytic leukemia. This association is of particular interest as sarcoidosis and chronic myelomonocytic leukemia may be considered as disorders of a common monocyte-macrophage cell lineage.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2002

Epiglottis involvement in a visceral leishmaniasis.

The visceral form of leishmaniasis caused by Leishmania infantum is frequently observed in Mediterranean countries, however otorhinolaryngeal involvement has only rarely been reported in the literature. We report here the case of a 23-year-old Cameroon man, resident in France since 1991, and presenting with recurrent epistaxis and an epiglottis tumoral lesion. The visceral form of leishmaniasis with hepatosplenomegaly and pancytopenia was diagnosed. Culture of the epiglottal lesion revealed L. infantum. Serological test for human immunodeficiency virus was negative and the patient was not on immunosuppressive drugs. Dramatic improvement was observed with antimony.

Adult↗
PubMed2001

[Stevens-Johnson syndrome followed by Gougerot-Sjögren syndrome].

BACKGROUND: Sicca syndrome after Stevens-Johnson syndrome is classically described. However, to our knowledge, authentic Sjögren's syndrome following epidermal necrolysis has not been described previously. CASE REPORT: A 36-year-old woman with Steven-Johnson syndrome developed transient hepatitis and a persistent sicca syndrome. Fourteen years later an authentic Sjögren's syndrome was identified with presence of antinuclear and anti-SSA antibodies and lymphocytes infiltration of the accessory salivary glands, i.e. grade IV disease in the Chisholm classification. DISCUSSION: The initial mucosal destruction observed in our patients may have laid the ground for Sjögren's syndrome via abnormal antigen presentation in a predisposed dysimmune context.

Adult↗