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1.
Rev Med Interne ; 40(12): 778-784, 2019 Dec.
Artigo em Francês | MEDLINE | ID: mdl-31500934

RESUMO

INTRODUCTION: Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist. METHODS: A retrospective multicentric study involving type 1 GD patients has been conducted in 16 centers, between 2009 and 2011. RESULTS: Fifty-five type 1 GD patients were included, under the care of an internist or an haematologist. They were originally hospitalized in 8 different specialized units. Diagnosis was established by bone-marrow aspiration in 22 patients (40%), by enzymatic assay of glucocerebrosidase activity in 15 patients (27%), and by bone-marrow biopsy in 9 patients (16%). The use of enzymatic assay became more frequent after 1990. The delay between first hospitalization due to GD symptoms and definitive diagnosis was less than one year for 38 patients. Patients with suspected GD were mainly referred to an internist physician. CONCLUSION: GD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important.


Assuntos
Procedimentos Clínicos , Técnicas e Procedimentos Diagnósticos , Doença de Gaucher/diagnóstico , Hematologia/métodos , Medicina Interna/métodos , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Doença de Gaucher/genética , Testes Genéticos/métodos , Hematologia/organização & administração , Humanos , Medicina Interna/organização & administração , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Inquéritos e Questionários
2.
Ann Dermatol Venereol ; 143(8-9): 537-42, 2016.
Artigo em Francês | MEDLINE | ID: mdl-27157503

RESUMO

BACKGROUND: Dermatomyositis (DM) is an inflammatory disease associated with auto-antibodies in 50 to 70% of cases. A new antibody, anti MDA-5, has been described in association with a specific type of DM involving severe interstitial lung disease and minimal muscle disease. We report the first case of DM with MDA-5 antibodies and with interstitial lung disease and rapidly extensive digital necrosis. PATIENTS AND METHODS: A 28-year-old male was hospitalized for asthenia, myalgia and subacute dyspnea. Examination demonstrated skin lesions with edema on every digit associated with purpuric and cyanotic lesions, as well as erythematous papules on the helix and the elbows, and Gottron's papules. Systemic corticosteroid therapy was initiated. The immunoprecipitation results indicated the presence of anti-MDA-5 antibodies. Despite corticosteroid therapy, the patient's respiratory status gradually deteriorated towards pulmonary fibrosis and rapidly extensive necrosis appeared on all fingers and toes. Theses effects were resistant to cyclophosphamide and immunoglobulin but were stabilized by cyclosporine. DISCUSSION: Anti-MDA-5 antibodies are specific to DM and constitute a risk factor for severe interstitial lung disease (70% of cases) with a higher risk of mortality (40%). The cutaneous presentation of this DM is specific with palmar papules and mucocutaneous ulceration. Rapidly extensive digital necrosis has not been previously reported. No treatment has demonstrated superiority. CONCLUSION: We report the first case of DM with anti-MDA-5 antibodies involving interstitial lung disease and massive digital necrosis. Because of the pulmonary risk, in the presence of clinical lesions containing anti-MDA-5 DM, screening for these antibodies should be carried out.


Assuntos
Autoanticorpos/sangue , Dermatomiosite/imunologia , Dedos/patologia , Helicase IFIH1 Induzida por Interferon/imunologia , Pele/patologia , Adulto , Dermatomiosite/complicações , Humanos , Doenças Pulmonares Intersticiais/imunologia , Masculino , Necrose
3.
Rev Neurol (Paris) ; 172(3): 231-41, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27038534

RESUMO

INTRODUCTION: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare, treatable, beta-oxidation disorder responsible for neuromuscular symptoms in adults. This case series describes the clinical and biochemical features of 13 French patients with late-onset MADD. METHODS AND RESULTS: Thirteen ambulant patients (eight women, five men), with a median age at onset of 27 years, initially experienced exercise intolerance (n=9), isolated muscle weakness (n=1) and a multisystemic pattern with either central nervous system or hepatic dysfunction (n=3). During the worsening period, moderate rhabdomyolysis (n=5), a pseudomyasthenic pattern (n=5) and acute respiratory failure (n=1) have been observed. Weakness typically affected the proximal limbs and axial muscles, and there was sometimes facial asymmetry (n=3). Moderate respiratory insufficiency was noted in one case. Median baseline creatine kinase was 190IU/L. Lactacidemia was sometimes moderately increased at rest (3/10) and after exercise (1/3). The acylcarnitine profile was characteristic, with increases in all chain-length acylcarnitine species. Electromyography revealed a myogenic pattern, while muscle biopsy showed lipidosis, sometimes with COX-negative fibers (n=2). The mitochondrial respiratory chain was impaired in five cases, with coenzyme Q10 decreased in two cases. All patients harbored mutations in the ETFDH gene (four homozygous, seven compound heterozygous, two single heterozygous), with nine previously unidentified mutations. All patients were good responders to medical treatment, but exercise intolerance and/or muscular weakness persisted in 11 of them. CONCLUSION: Late-onset forms of MADD may present as atypical beta-oxidation disorders. Acylcarnitine profiling and muscle biopsy remain the most decisive investigations for assessing the diagnosis. These tests should thus probably be performed more widely, particularly in unexplained cases of neuromuscular and multisystemic disorders.


Assuntos
Erros Inatos do Metabolismo Lipídico/enzimologia , Erros Inatos do Metabolismo Lipídico/terapia , Deficiência Múltipla de Acil Coenzima A Desidrogenase/complicações , Deficiência Múltipla de Acil Coenzima A Desidrogenase/genética , Doenças Neuromusculares/enzimologia , Doenças Neuromusculares/terapia , Adulto , Idade de Início , Biópsia , Carnitina/análogos & derivados , Carnitina/metabolismo , Eletromiografia , Flavoproteínas Transferidoras de Elétrons/genética , Exercício Físico , Feminino , França , Humanos , Proteínas Ferro-Enxofre/genética , Erros Inatos do Metabolismo Lipídico/genética , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/enzimologia , Músculo Esquelético/patologia , Mutação/genética , Doenças Neuromusculares/genética , Oxirredução , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Rabdomiólise/etiologia , Adulto Jovem
4.
Lupus ; 24(11): 1161-8, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25862730

RESUMO

OBJECTIVES: Health-related quality of life (HRQoL) has not been fully explored in antiphospholipid syndrome (APS); therefore, we compared HRQoL between APS patients and the general population and assessed the impact of thromboembolic history. METHODS: HRQoL was measured in a multicentre cohort study by the Medical Outcomes Study Short-Form 36 (MOS-SF-36) questionnaire. HRQoL scores were compared to the French general population norms. Factors significantly associated with an impaired HRQoL were identified. RESULTS: A total of 115 patients with aPL and/or systemic lupus erythematosus (SLE) were included (mean age 42.7 ± 14.1 years old, 86 women). In 53 patients APS was diagnosed. Compared to general population norms, patients with APS had an impaired HRQoL. SLE-associated APS patients had the worst HRQoL scores (physical component summary (PCS)=40.8 ± 10.6; mental component summary (MCS)=40.6 ± 16.5) in comparison with SLE or aPL patients without thromboembolic history. In APS patients, history of arterial thrombosis significantly impaired HRQoL (PCS score: 42.2 ± 9.4 vs 49.2 ± 8.5; MCS score: 33.9 ± 13.7 vs 44.6 ± 10.3). CONCLUSION: Compared to the general population, APS patients experienced a lower HRQoL. In these patients, a history of arterial thrombosis significantly impaired HRQoL. Therefore, measurements of HRQoL should be included in APS patient management to assess the burden of the disease from a patient's perspective and to provide patients with the support they need.


Assuntos
Síndrome Antifosfolipídica/fisiopatologia , Adulto , Síndrome Antifosfolipídica/psicologia , Estudos de Coortes , Feminino , Nível de Saúde , Humanos , Lúpus Eritematoso Sistêmico/fisiopatologia , Lúpus Eritematoso Sistêmico/psicologia , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Qualidade de Vida , Fatores de Risco , Inquéritos e Questionários , Trombose/fisiopatologia
6.
J Thromb Haemost ; 12(9): 1494-502, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25040799

RESUMO

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder associated with abnormal angiogenesis and disabling epistaxis. Tranexamic acid (TA) has been widely used in the treatment of these severe bleeds but with no properly designed trial. OBJECTIVES: To demonstrate the efficacy of TA in epistaxis in HHT patients and to explore its safety of use. PATIENTS/METHODS: A randomized, placebo-controlled, double-blind, cross-over trial was conducted. Participants were randomized to receive TA (3 g a day) then placebo or the opposite sequence. The main analysis compared intra-individual mean duration of epistaxis under TA vs. placebo on a log scale. The primary outcome was the mean duration of epistaxis per month, assessed with specific grids to be completed by participants. The number of epistaxis episodes was recorded as a secondary outcome. RESULTS: A total of 118 randomized patients contributed to the statistical analysis. The mean duration of epistaxis per month was significantly shorter with TA than placebo (0.19 on the log scale; SD = 0.07; P = 0.005), corresponding to a decrease of 17.3% (15.7 min) in the duration of epistaxis per month (CI 95%, 5.5-27.6). The median number of epistaxis episodes per month was 22.1 episodes in the placebo arm vs. 23.3 episodes in the TA arm. No thrombophlebitis was observed. CONCLUSIONS: In the ATERO study, we demonstrated a significant decrease in the duration of epistaxis in HHT patients taking TA. No safety issues were recorded in our cohort of patients.


Assuntos
Antifibrinolíticos/uso terapêutico , Epistaxe/tratamento farmacológico , Hemorragia/tratamento farmacológico , Telangiectasia Hemorrágica Hereditária/tratamento farmacológico , Ácido Tranexâmico/uso terapêutico , Adulto , Idoso , Estudos Cross-Over , Método Duplo-Cego , Europa (Continente) , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neovascularização Patológica , Qualidade de Vida , Doenças Raras , Resultado do Tratamento , Adulto Jovem
7.
Rev Med Interne ; 35(9): 617-20, 2014 Sep.
Artigo em Francês | MEDLINE | ID: mdl-24907107

RESUMO

INTRODUCTION: Arrhythmic disorders are infrequent in young adult and should evoke myopathy associated cardiomyopathy, even though muscular symptoms are moderate or absent. CASE REPORT: We report a 25-year-old woman who developed severe supraventricular rhythm disturbances with exercise intolerance and elevated serum creatine kinase level. Initially the echocardiography showed normal ventricular function. Mutation in the lamin gene (LMNA) was identified. During the disease course, arrhythmia and ventricular function worsened and required cardioverter defibrillator implantation. CONCLUSION: Laminopathies are genetic disorders among which dilated cardiomyopathy associated with skeletal muscular involvement is the most frequent phenotype, usually like Emery-Dreifuss muscular dystrophy. Other phenotypes are progeria, lipodystrophic syndromes and peripheral neuropathy. Cardiac involvement is responsible for syncope, thromboembolic events and sudden death and often requires early cardioverter defibrillator implantation.


Assuntos
Arritmias Cardíacas/diagnóstico , Tolerância ao Exercício , Lamina Tipo A/genética , Distrofias Musculares/diagnóstico , Mialgia/diagnóstico , Adulto , Arritmias Cardíacas/etiologia , Feminino , Humanos , Debilidade Muscular/diagnóstico , Debilidade Muscular/etiologia , Distrofias Musculares/genética , Mutação , Mialgia/etiologia , Adulto Jovem
8.
Rev Med Interne ; 35(8): 540-2, 2014 Aug.
Artigo em Francês | MEDLINE | ID: mdl-23886885

RESUMO

INTRODUCTION: ANCA vasculitis may involve the skin and develop slowly without specific histology, and without autoantibodies. CASE REPORT: We report a 50-year-old woman who experienced bilateral mastectomy because of ulcero-necrotic, non-specific inflammatory cutaneous lesions of the breasts. First considered by others as a malinger patient, she developed oto-neurological lesions leading to the diagnosis of Wegener's granulomatosis. Five years later, specific antibodies of the disease were present. CONCLUSION: Cutaneous involvement by ANCA vasculitis can be isolated for a long time. Physicians must have a high degree of suspicion to avoid diagnostic delay of ANCA vasculitis.


Assuntos
Anticorpos Anticitoplasma de Neutrófilos/sangue , Granulomatose com Poliangiite/diagnóstico , Fatores Imunológicos/sangue , Biomarcadores/sangue , Mama/patologia , Diagnóstico Tardio , Diagnóstico Diferencial , Quimioterapia Combinada , Feminino , Glucocorticoides/uso terapêutico , Granulomatose com Poliangiite/sangue , Granulomatose com Poliangiite/tratamento farmacológico , Granulomatose com Poliangiite/cirurgia , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Simulação de Doença , Mastectomia , Pessoa de Meia-Idade , Falha de Tratamento , Resultado do Tratamento
9.
Int J Clin Pract ; 67(2): 120-7, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23305474

RESUMO

AIM: Fabry's disease is an X-linked inherited lysosomal storage disorder caused by the deficient activity of alpha-galactosidase A. The interrelationships between clinical symptoms in Fabry patients have not yet been fully established. Using cluster and multivariate analysis, the aim of the study was to determine the relationships among clinical symptoms and organ involvement, and predictive clinical symptoms for disease severity. METHODS: Clinical data obtained from 108 French Fabry patients were retrospectively collected and analysed using multiple correspondence analysis and hierachical ascendant classification. Multivariate analysis was also performed to determine among clinical symptoms predictors for cardiac disease (HRT), renal involvement (KDN) and brain complication (STR). RESULTS: The cohort comprised 41 male patients (aged 28.9 ± 11.6 years) and 67 female patients (aged 40.4 ± 15.5 years). Three main clusters of clinical symptoms could be delineated, characterising disease progression: the first cluster grouped digestive disorders (found in 30% of the patients) and exercise intolerance (32%), the second, cluster dyshidrosis (47%), acroparesthesia (67%), angiokeratoma (44%) and cornea verticillata (54%), the third, cluster grouped KDN (30%), HRT (39%) and STR (25%) and hearing loss (44%). In univariate analysis, the patient age predicted HRT and KDN, dyshidrosis predicted HRT and STR, angiokeratoma predicted KDN and cornea verticilla and hearing loss predicted KDN, HRT and STR. In multivariate analysis, hearing loss and age were independent predictors of organ complication. CONCLUSION: Among the various interrelated clinical symptoms occurring in Fabry disease, patients with dyshidrosis and particularly hearing disorders appear to be at higher risk of organ complications.


Assuntos
Encefalopatias/etiologia , Doença de Fabry/complicações , Cardiopatias/etiologia , Nefropatias/etiologia , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Feminino , Perda Auditiva/etiologia , Humanos , Masculino , Fatores de Risco , Fatores Sexuais , Adulto Jovem
10.
Ocul Immunol Inflamm ; 20(6): 464-7, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23163353

RESUMO

PURPOSE: To report a case of neurosyphilis revealed by bilateral optic disc neovascularization. DESIGN: Case report. METHODS: A 39-year-old man presented with a 6-month history of progressive visual loss (20/25 RE, 20/1200 LE) and transient headaches. Fundus examination demonstrated a 1+ vitritis, mild macular edema and large optic disc neovascularization in both eyes. Serological tests for syphilis were positive. RESULTS: Specific antibiotics and systemic steroids were undertaken and complete regression of disc neovascularization was observed within 6 months. CONCLUSION: Optic disc neovascularization, which is a rare manifestation of chronic uveitis, may lead to the diagnosis of neurosyphilis and be successfully treated by specific antibiotic and steroid therapy.


Assuntos
Neurossífilis/complicações , Disco Óptico/irrigação sanguínea , Doenças do Nervo Óptico/diagnóstico , Adulto , Diagnóstico Diferencial , Angiofluoresceinografia , Fundo de Olho , Humanos , Masculino , Neovascularização Patológica/diagnóstico , Neovascularização Patológica/etiologia , Neurossífilis/diagnóstico , Doenças do Nervo Óptico/etiologia
11.
Growth Horm IGF Res ; 22(6): 240-4, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22939217

RESUMO

OBJECTIVE: The aim of the study was to determine the respective impact of thyroxine and growth hormone on in vivo skeletal mitochondrial function assessed via post exercise phosphocreatine recovery. DESIGN: The hind leg muscles of 32 hypophysectomized rats were investigated using (31)P nuclear magnetic resonance spectroscopy at rest and during the recovery period following a non tetanic stimulation of the sciatic nerve. Each rat was supplemented with hydrocortisone and was randomly assigned to one of the 4 groups: the group Hx was maintained in hypopituitarism., the group HxT was treated with 1 µg/100g/day of thyroxine (T4), the group HxG with 0.2 IU/kg/day of recombinant human GH (rGH) and the group HxGT by both thyroxine and rGH. Inorganic phosphate (Pi), phosphocreatine (PCr) and ATP were directly measured on the spectra, permitting the calculation of the phosphorylation potential (PP). RESULTS: At rest, the rats treated with rGH or T4 exhibited higher PCr levels than rats Hx. The recovery rates of PCr and PP were higher in rats treated with T4 than in T4-deprivated rats, suggesting improved mitochondrial function. The rats treated by both T4 and rGH showed higher PCr and PP recovery than those maintained in hypopituitarism or treated with T4 or rGH alone. CONCLUSIONS: The study demonstrates that in contrast to T4, GH given alone in hypophysectomized rats does not improve in vivo mitochondrial oxidative metabolism. Growth hormone potentiates T4 effects on oxidative metabolism.


Assuntos
Hormônio do Crescimento Humano/farmacologia , Músculo Esquelético/efeitos dos fármacos , Fosfocreatina/metabolismo , Condicionamento Físico Animal/fisiologia , Tiroxina/farmacologia , Animais , Sinergismo Farmacológico , Hormônio do Crescimento Humano/metabolismo , Humanos , Masculino , Músculo Esquelético/metabolismo , Distribuição Aleatória , Ratos , Glândula Tireoide/metabolismo
12.
Rev Med Interne ; 33(11): 615-20, 2012 Nov.
Artigo em Francês | MEDLINE | ID: mdl-22763184

RESUMO

PURPOSE: Uveitis may rarely reveal sarcoidosis in Caucasian patients. Our objective was to analyze the clinical manifestations, and the outcome in a group of patients in whom uveitis was the presenting manifestation of sarcoidosis. METHODS: Retrospective study including 23 patients (mean age: 50.3±14.5 years) diagnosed with sarcoidosis after an episode of uveitis. Granulomatous lesions were documented in 14 patients. RESULTS: Ophthalmological examination revealed anterior uveitis (n=5), intermediate uveitis (n=2), posterior uveitis (n=25) and panuveitis (n=11). Ocular inflammation was bilateral in 16 patients (69,6%), typical aspects of granulomatous uveitis were found in only 16 eyes over 39 (41%), posterior uveitis was found in 18 eyes (46.2%), with an averaged visual acuity of 5/10. Macular oedema was noted in five patients. Suggestive signs of ocular sarcoidosis were present in 43% of the patients. Stage 1 or 2 pulmonary involvement (n=22), musculoskeletal (22%), skin (13%), or spleen (9%) involvements were the most common findings. Oral corticosteroids were necessary in 91.3% of the patients, immunosuppressive agents in 26.1%, with a prolonged treatment greater than two years in 58%. The visual prognosis was good, with visual acuity greater than 6/10 in 96% of the cases if the ocular inflammation spared retina and choroid. However, a visual acuity less than 6/10 was observed in 44% of the cases when the posterior segment was involved. CONCLUSION: Sarcoidosis may be revealed by an intraocular inflammation, with typical patterns in only 43% of the cases. Sarcoidosis should therefore be included in the differential diagnosis of every uveitis. Oral corticosteroids are required in almost all cases, owing to ocular involvement rather than visceral involvement.


Assuntos
Sarcoidose/complicações , Sarcoidose/diagnóstico , Uveíte/etiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
13.
Rev Med Interne ; 33(9): 514-8, 2012 Sep.
Artigo em Francês | MEDLINE | ID: mdl-22572587

RESUMO

Type 1 myotonic dystrophy is an autosomal dominant inherited disorder related to the expansion of a trinucleotide (CTG) repeat in the exon 15 in the 3'-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Mutant transcripts containing an expanded CUG repeat are retained in nuclear foci and cause numerous dysfunctions by interfering with biogenesis of other mRNAs. Prominent clinical features are progressive muscular weakness and myotonia, which affect skeletal muscles but also white muscles leading to digestive, urinary and obstetrical disorders. Functional prognosis correlates with motor handicap and vital prognosis is linked to cardiac rhythm disturbances and conduction defects due to progressive subendocardial fibrosis, and to complex respiratory dysfunctions, which associate restrictive lung disease, involvement of the central inspiratory pathway, and sleep apnea. Other clinical features are lens opacity, glucose intolerance, metabolic syndrome, several endocrine disorders (gonadal deficiency, hyperparathydoidism), or immunoglobulin deficiency due to immunoglobulin G hypercatabolism. Life expectancy is reduced in myotonic dystrophy, and death is mainly caused by respiratory complications, but also by cardiac arrhythmias. Moreover, an abnormal incidence of tumors has been reported. Therefore, myotonic dystrophy does not only concern neurologists but a multidisciplinary approach is necessary, including at least pneumologist, cardiologist, and physiotherapist. General internists should also be implicated, not only in the initial diagnosis step, but also in the diagnosis of complications and their treatments.


Assuntos
Distrofia Miotônica/diagnóstico , Adulto , Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/etiologia , Oftalmopatias/diagnóstico , Oftalmopatias/etiologia , Cardiopatias/diagnóstico , Cardiopatias/etiologia , Humanos , Músculo Esquelético/fisiopatologia , Miotonia/classificação , Miotonia/diagnóstico , Miotonia/etiologia , Distrofia Miotônica/complicações , Distrofia Miotônica/genética , Distrofia Miotônica/fisiopatologia , Neoplasias/diagnóstico , Neoplasias/etiologia , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/etiologia , Doenças Respiratórias/diagnóstico , Doenças Respiratórias/etiologia
14.
Clin Genet ; 81(6): 571-7, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21623772

RESUMO

Fabry disease (FD) is an X-linked lysosomal storage disorder due to α-galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referred to 10 internal medicine departments in France aimed to review differential diagnoses received prior to diagnosis and examines diagnostic delay. The average age at the time of diagnosis was 27.6 years (range: 10-60) and 42.2 years (range: 9-77) among the 23 males and 35 females analyzed, respectively. Most common symptoms that led to FD diagnosis were family history of FD (12 males and 27 females), followed by pain in extremities (10 males and 5 females), and angiokeratoma (8 males and 4 females). Eighteen patients had received alternative diagnoses prior to FD diagnosis, including a female patient with four previous diagnoses. Four case reports are presented, which illustrate the diagnostic 'odyssey' and delayed diagnosis often experienced by patients. Clinicians should consider a diagnosis of FD when presented with a wide range of symptoms, thus helping to shorten the diagnostic delay and facilitating early therapy with enzyme replacement therapy to improve patient outcomes.


Assuntos
Doença de Fabry/diagnóstico , Adolescente , Adulto , Idoso , Angioceratoma/diagnóstico , Criança , Diagnóstico Tardio , Terapia de Reposição de Enzimas , Doença de Fabry/fisiopatologia , Doença de Fabry/terapia , Feminino , França , Departamentos Hospitalares , Humanos , Masculino , Pessoa de Meia-Idade , Dor/diagnóstico , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , alfa-Galactosidase/genética
16.
Ocul Immunol Inflamm ; 19(2): 132-4, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21428755

RESUMO

PURPOSE: To report a case of intravascular lymphoma (IVL) mimicking a Vogt-Koyanagi-Harada disease (VKH). DESIGN: Case report. METHODS: A 38-year-old man was referred for blurred vision, headache, and hearing loss. Examination demonstrated vitritis and subretinal detachments in each eye. Cerebral fluid analysis showed lymphocytic meningitis. Cerebral MRI was normal. A diagnosis of VKH disease was made. RESULTS: Steroid treatment was introduced, after which all symptoms disappeared. Six months later, the patient returned with paraplegia and confusion. Cerebral MRI revealed hypodense periventricular lesions. A stereotaxic biopsy confirmed the diagnosis of IVL. The patient died a few months later. CONCLUSION: IVL may have many revealing aspects, including ophthalmologic symptoms.


Assuntos
Linfoma/diagnóstico , Síndrome Uveomeningoencefálica/diagnóstico , Neoplasias Vasculares/diagnóstico , Adulto , Biópsia/métodos , Encéfalo/patologia , Confusão/etiologia , Diagnóstico Diferencial , Evolução Fatal , Angiofluoresceinografia , Humanos , Linfoma/complicações , Linfoma/tratamento farmacológico , Linfoma/psicologia , Imageamento por Ressonância Magnética , Masculino , Paraplegia/etiologia , Técnicas Estereotáxicas , Esteroides/uso terapêutico , Neoplasias Vasculares/complicações , Neoplasias Vasculares/tratamento farmacológico , Neoplasias Vasculares/psicologia , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia
17.
Rev Med Interne ; 32(7): 406-10, 2011 Jul.
Artigo em Francês | MEDLINE | ID: mdl-21292359

RESUMO

PURPOSE: We analyzed the characteristics of the leukocyte differential and the clinical outcome in patients admitted in an emergency department with marked leukocytosis greater than 20×10(9)G/L. METHODS: We studied a case series of consecutive patients admitted in an emergency department. The medical records were retrospectively reviewed after patient discharge. Three groups were defined: patients with infectious disorders (group I), noninfectious disorders (group II), and trauma (group III). Admission in intensive care unit (ICU), consciousness impairment or death defined the subgroup S of high severity. RESULTS: Groups I, II and III comprised, respectively, 150, 95 and 86 patients. The group I presented with higher temperature and neutrophilia (22,2±4.9 vs 20.9±4.0 and 21.1±3.9×10(9)G/L; P<0.001), and more profound eosinopenia (0.058±0.094 versus 0.098±0.170 and 0.092±0.104×10(9)G/L; P<0.001) and lymphopenia (1.16±0.98 vs 1.53±1.04 and 1.73±1.10×10(9)G/L; P<0.001) than the two other groups. Both neutrophilia and lymphopenia were independent predictors of infection by multivariate analysis. Frequencies of admission in ICU were, respectively, 8.7%, 40% and 43% (P<0.001). Leukocyte and neutrophil counts were significantly higher and basophil count significantly lower in subgroup S. Overall, 13.6% of the patients died and were characterized by basopenia. CONCLUSION: Marked leukocytosis indicated severe illness. Lymphopenia, eosinopenia and temperature were significant predictors of infection. A more severe clinical course was correlated with higher neutrophilia and basopenia.


Assuntos
Serviço Hospitalar de Emergência , Leucocitose/mortalidade , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Basófilos/metabolismo , Eosinofilia/epidemiologia , Feminino , Febre/epidemiologia , Humanos , Infecções/epidemiologia , Masculino , Pessoa de Meia-Idade , Neutropenia/epidemiologia , Estudos Retrospectivos , Adulto Jovem
18.
Rev Med Interne ; 32(6): 341-6, 2011 Jun.
Artigo em Francês | MEDLINE | ID: mdl-21269740

RESUMO

PURPOSE: Wilson's disease (WD) is an inherited disorder of copper metabolism, characterized by the accumulation of copper in the body due to defective biliary copper excretion by hepatocytes. We report a series of 19 patients with WD. PATIENTS AND METHODS: This is a retrospective and descriptive case series of patients with WD followed in two hospitals of North East of France. RESULTS: Eight men and 11 women were studied. Median follow-up time was 16 years, median age at diagnosis was 18 years (range: 5-71 years). Median age at first symptom was 16 years. In addition to four cases diagnosed by familial screening, clinical manifestations at diagnosis were fatigue (n=5), jaundice (n=5), bleeding (n=1), abnormal movement disorders (n=2) and fortuitous (n=2). Cirrhosis was identified in 14 patients, neurological involvement occurred in seven patients and four patients presented with psychiatric disorders. d-penicillamine was the first treatment in 18 patients, discontinued for severe adverse events in seven patients. Trientine or zinc salts were then prescribed. Medical treatment was successful in 13 patients, but five patients underwent liver transplantation. Haemochromatosis was associated in one case, and one patient developed cholangiocarcinoma. CONCLUSION: WD is severe. Medical treatment allows disease control if it is correctly observed. Conversely, worsening with irreversible damage can occur if the treatment is discontinued.


Assuntos
Degeneração Hepatolenticular , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
19.
Rev Neurol (Paris) ; 167(1): 23-8, 2011 Jan.
Artigo em Francês | MEDLINE | ID: mdl-20934732

RESUMO

BACKGROUND: Myotonic dystrophy (DM1) is a multisystemic disorder characterized by myotonic muscular weakness, and numerous organ impairments, especially cardiac and respiratory disorders. The goal of this study was to evaluate in DM1 patients the relationships between a new muscular disability scale, the motor function measure (MFM), and functional measurements of organ involvements. PATIENTS AND METHODS: The MFM and MDRS, as well as spirometry, blood gases, echocardiography, electrocardiogram, and ophthalomological examination were performed in 69 consecutive DM1 patients. RESULTS: Significant relationships were found between MDRS and MFM (p < 0.001) as well as between both and age and BMI of the patients. Patients with total MFM below 76 had a higher risk of respiratory insufficiency, conduction disorders, left ventricular dysfunction, hypoxemia and cataract than the other DM1 patients. CONCLUSION: The MFM provides an effective evaluation of muscular disability in DM1 patients. Cardiac and respiratory involvements are correlated with lower MFM.


Assuntos
Coração/fisiopatologia , Músculos/fisiopatologia , Adolescente , Adulto , Idoso , Feminino , Força da Mão , Humanos , Masculino , Pessoa de Meia-Idade , Atividade Motora , Força Muscular , Debilidade Muscular/etiologia , Distrofia Miotônica/patologia , Distrofia Miotônica/fisiopatologia , Insuficiência Respiratória/etiologia , Músculos Respiratórios/fisiopatologia , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Adulto Jovem
20.
Rev Med Interne ; 31(10): 709-11, 2010 Oct.
Artigo em Francês | MEDLINE | ID: mdl-20570026

RESUMO

INTRODUCTION: Ornithine transcarbamylase (OTC) deficiency is a X-linked inherited disorder characterized by hyperammoniemic encephalopathy in male neonates. However, there is an increased evidence of late-onset disease, including in adults. CASE REPORTS: A 23-year-old woman presented with vomiting, somnolence, confusion and hyperammonemia. Familial history revealed OTC deficiency in three brothers and one sister, but urinary orotic acid level was normal at birth in the reported patient who therefore was considered as mutation-free. The mother was asymptomatic but had cognitive defect and moderate mental deficiency. Molecular biology demonstrated that both our patient and her mother were heterozygous for complete OCT deletion. CONCLUSION: OCT deficiency could be diagnosed in adult patients at any age and clinical features are various, including hyperammonemic encephalopathy, psychiatric disorders or mental deficiency.


Assuntos
Doença da Deficiência de Ornitina Carbomoiltransferase , Feminino , Humanos , Pessoa de Meia-Idade , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Adulto Jovem
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