RESUMEN
BACKGROUND: Paroxysmal finger haematoma (also known as "Achenbach syndrome") is a benign condition resulting in the sudden appearance of bruising on one or more fingers, either spontaneously or after minimal trauma, and resolving without treatment. To date, less than 40 cases have been reported. PATIENTS AND METHODS: We report two cases of women aged over 50 years presenting for sudden onset of digital haematomas occurring spontaneously without any prior trauma. Laboratory and radiological tests appeared to be normal for both patients. History-taking and clinical and laboratory data pointed towards a diagnosis of spontaneous paroxysmal finger haematoma. Each episode resolved spontaneously but, as is generally seen, recurrences occurred during follow-up. DISCUSSION: In the absence of known aetiologies and/or treatments for spontaneous paroxysmal finger haematomas, a knowledge of this rare condition can at least help doctors reassure their patients by diagnosing their condition and pointing out the benign nature thereof. It also helps avoid costly and unwarranted additional investigations.
Asunto(s)
Dedos/irrigación sanguínea , Hematoma/diagnóstico , Enfermedades de la Piel/diagnóstico , Equimosis/etiología , Femenino , Humanos , Persona de Mediana Edad , Remisión EspontáneaRESUMEN
A 63-year-old woman living in a rural area presented in 2004 with a granulomatous necrotizing axillary lymphadenitis caused by Corynebacterium pseudotuberculosis, a Gram positive bacillus belonging to the group of Corynebacterium diphtheriae, which is found primarily in animal infections. In the human being, around 30 cases of infection due to C. pseudotuberculosis have been described, mainly among people working in contact with infected animals. For this reason, this infection, which induces exclusively lymphadenitis and abscesses with granulomatous necrotizing lesions, should be regarded as an occupational disease. In this patient, due to ignorance of the disease, this bacterium was considered to be merely saprophytic. The first treatment introduced was probabilistic antibiotherapy followed by a second course of antibiotics after aspiration. The trend confirmed that this was not the correct treatment and that surgery was the only way to achieve a cure.
Asunto(s)
Infecciones por Corynebacterium/complicaciones , Infecciones por Corynebacterium/tratamiento farmacológico , Corynebacterium pseudotuberculosis , Linfadenitis/etiología , Antibacterianos/uso terapéutico , Eosinofilia/etiología , Eosinofilia/microbiología , Femenino , Humanos , Linfadenitis/microbiología , Persona de Mediana EdadRESUMEN
BACKGROUND: The heart involvement in systemic sclerosis is frequent and can touch various sites. The prognosis in the presence of heart disease is poor, but few data are available about its management. CASE: We report the case of 48 years old woman with systemic sclerosis which presented severe heart involvement. She has severe heart failure, supraventricular arrhythmias and symptomatic pericarditis, which required surgical intervention and immunosuppressive drugs (steroids with rituximab). Despite this treatment, she has persistent severe heart impaired function and intravenous immunoglobulins have been initiated. She experienced progressively the improvement of dyspnea, of heart systolic ejection fraction and decrease of Rodnan scale. CONCLUSION: Our case illustrates a severe heart involvement in systemic sclerosis which have been improved by intravenous immunoglobulins.
Asunto(s)
Arritmias Cardíacas/tratamiento farmacológico , Insuficiencia Cardíaca/tratamiento farmacológico , Inmunoglobulinas Intravenosas/uso terapéutico , Esclerodermia Sistémica/tratamiento farmacológico , Arritmias Cardíacas/etiología , Femenino , Insuficiencia Cardíaca/etiología , Humanos , Persona de Mediana Edad , Esclerodermia Sistémica/complicaciones , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
INTRODUCTION: Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. CASE REPORT: An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes, and elevated transaminases and cholestasis. Hepatic ultrasonography and abdominal computed tomographic scan confirmed the hepatomegaly. The liver biopsy showed a massive glycogenosis and the diagnosis of hepatic glycogenosis was confirmed. Too large doses of insulin were responsible of diffuse edema. Diabetes equilibration and diminution of insulin intakes allow correction of this disorder. CONCLUSION: Excess of insulin can lead to excessive hepatic glycogen storage by activation of glycogenosis enzymes. Biological manifestations consist on elevated liver enzymes and hyperlactatemia. There is a link between administration of high dose of insulin and edema. Hepatic glycogenosis should be suspected when diabetes is uncontrolled and be considered as a differential diagnosis of steatosis. It may be associated and revealed by insulin edema directly related to excessive insulin intakes.
Asunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Edema/inducido químicamente , Enfermedad del Almacenamiento de Glucógeno/diagnóstico , Enfermedad del Almacenamiento de Glucógeno/etiología , Insulina/efectos adversos , Hepatopatías/diagnóstico , Hepatopatías/etiología , Adolescente , Biopsia , Diabetes Mellitus Tipo 1/patología , Femenino , Hepatomegalia/diagnóstico , Hepatomegalia/etiología , Hepatomegalia/patología , Humanos , Hígado/patología , SíndromeRESUMEN
INTRODUCTION: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease type B, NP-B). METHODS: Retrospective multicentric analysis of French adult patients with ASMD over the period 1985-March 2015. Clinical, biological, and imaging data were analyzed. RESULTS: Twenty-eight patients (19 males, 9 females) were analyzed. Diagnosis was made before the age of 10 years in 16 cases. Main symptoms at diagnosis were spleen/liver enlargement and interstitial lung disease. Biological abnormalities included: thrombocytopenia (platelet count <150 000/mm3) in 24 cases including 4 patients with platelet count <60 000/mm3, constantly low high-density lipoprotein (HDL) cholesterol, polyclonal hypergammaglobulinemia (n=6), monoclonal gammopathy of unknown significance (n=5), normal prothrombin level discordant with low factor V (n=5), elevated chitotriosidase level (n=11). The diagnosis was confirmed in all cases by deficient acid sphingomyelinase enzyme activity. SMPD1 gene sequencing was performed in 25 cases. The frequent p.R610del mutation was largely predominant, constituting 62% of the non-related alleles. During the follow-up period, three patients died before 50 years of age from cirrhosis, heart failure and lung insufficiency, respectively. CONCLUSION: ASMD in adulthood (NP-B) associates spleen/liver enlargement and interstitial lung disease. Early diagnosis and appropriate management are essential for reducing the risk of complications, improving quality of life, and avoiding inappropriate procedures such as splenectomy. To date, only symptomatic therapy is available. A phase 2/3 therapeutic trial with IV infusion of recombinant enzyme is on-going.
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Enfermedad de Niemann-Pick Tipo B , Adolescente , Adulto , Edad de Inicio , Anciano , Niño , Preescolar , Consanguinidad , Femenino , Francia/epidemiología , Humanos , Lactante , Masculino , Persona de Mediana Edad , Enfermedad de Niemann-Pick Tipo B/diagnóstico , Enfermedad de Niemann-Pick Tipo B/epidemiología , Enfermedad de Niemann-Pick Tipo B/genética , Fenotipo , Estudios Retrospectivos , Esfingomielina Fosfodiesterasa/deficiencia , Esfingomielina Fosfodiesterasa/genética , Adulto JovenAsunto(s)
Adenocarcinoma Bronquioloalveolar/complicaciones , Queratodermia Palmoplantar/etiología , Neoplasias Pulmonares/complicaciones , Síndromes Paraneoplásicos/etiología , Adenocarcinoma Bronquioloalveolar/diagnóstico , Anciano , Diagnóstico Diferencial , Humanos , Queratodermia Palmoplantar/diagnóstico , Neoplasias Pulmonares/diagnóstico , Masculino , Síndromes Paraneoplásicos/diagnósticoRESUMEN
The authors report five cases of malignant fibrous histiocytoma of the soft tissues, some of them with atypical presentation (necrotizing tumor, hypereosinophilic syndrome, dermatomyositis). This is the first case of polymyositis associated with malignant fibrous histiocytoma. The tumor occurs between the fifth and the seventh decade, principally as a mass on the proximal lower limb. Local recurrence and metastasis occurs in 50% of patients. Prognosis is dependent on both the surgical possibilities and the characteristics of the tumor (site, size, histologic grade). Surgery alone is inadequate. Adjuvant chemotherapy improves the 5-year survival.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Histiocitoma Fibroso Benigno/tratamiento farmacológico , Neoplasias Retroperitoneales/tratamiento farmacológico , Adulto , Terapia Combinada , Femenino , Histiocitoma Fibroso Benigno/patología , Histiocitoma Fibroso Benigno/cirugía , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Neoplasias Retroperitoneales/patología , Neoplasias Retroperitoneales/cirugía , Factores de TiempoRESUMEN
The authors report a case of spondylitis Th11-Th12 occurred 1 month after embolization of an intraspinal extramedullary arteriovenous fistulae; this fistulae was fed by 11th left intercostal artery. The infecting organism isolated from the affected intervertebral disc was streptococcus sanguis a common agent of dental abscess.
Asunto(s)
Malformaciones Arteriovenosas/terapia , Embolización Terapéutica/efectos adversos , Canal Medular/irrigación sanguínea , Espondilitis/etiología , Infecciones Estreptocócicas/etiología , Humanos , Disco Intervertebral/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Radiografía , Espondilitis/diagnóstico por imagen , Infecciones Estreptocócicas/diagnóstico por imagen , Streptococcus sanguis , Vértebras Torácicas/diagnóstico por imagenRESUMEN
Two cases are reported of ivory vertebra, an isolated lesion difficult to diagnose clinically or radiologically. Tomographic and if necessary computed tomographic analysis should provide a precise diagnosis of a Paget's disease origin, biopsy being reserved for cases for which a doubt exists.
Asunto(s)
Osteítis Deformante/diagnóstico por imagen , Columna Vertebral/diagnóstico por imagen , Enfermedad de Hodgkin/diagnóstico por imagen , Humanos , Vértebras Lumbares/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Radiografía , Neoplasias de la Columna Vertebral/diagnóstico por imagen , Neoplasias de la Columna Vertebral/secundarioRESUMEN
We report 4 cases of post-traumatic enthesopathy occurring later after rupture of rectus femoris tendon from the anterior superior iliac spine. Radiographic feature and clinical picture are typical of diagnosis.
Asunto(s)
Traumatismos en Atletas/diagnóstico , Osificación Heterotópica/etiología , Traumatismos de los Tendones/diagnóstico , Adulto , Traumatismos en Atletas/diagnóstico por imagen , Diagnóstico Diferencial , Humanos , Masculino , Osificación Heterotópica/diagnóstico por imagen , Radiografía , Rotura , Traumatismos de los Tendones/diagnóstico por imagen , MusloRESUMEN
BACKGROUND: D-penicillamine-induced muscle disorders are well-known, tiopronine-induced disorders are less often reported. CASE REPORT: A 62-year-old patient, given tiopronine for rheumatoid arthritis, developed severe polymyositis with characteristic clinical and pathology features. The course was favorable after tiopronine withdrawal and substitution with methotrexate. DISCUSSION: Clinicians should be aware of the side-effects of tiopronine, particularly muscle disorders, and implement careful surveillance to achieve early diagnosis and appropriate therapy.
Asunto(s)
Artritis Reumatoide/tratamiento farmacológico , Metotrexato/uso terapéutico , Polimiositis/inducido químicamente , Tiopronina/uso terapéutico , Aminoácidos/uso terapéutico , Femenino , Humanos , Persona de Mediana Edad , Polimiositis/tratamiento farmacológico , Tiopronina/efectos adversosRESUMEN
Folate and vitamin B12 are indispensable to normal cell division. High turnover tissues, therefore, are the first to be affected when these vitamins are deficient. Such deficiencies, which are known to result in megaloblastic anaemia at a late stage, may also influence the granulocyte and platelet lines, but pancytopenia rarely occurs. We report 3 cases of pancytopenia associated with folate and/or vitamin B12 deficiency in elderly patients. In two of these patients bone marrow examination showed a misleading "pseudo-leukaemia" due to a significant proportion of strongly dystrophic young cells. Cure was obtained within 30 to 45 days of vitamin therapy, with complete normalization of the haemogram.
Asunto(s)
Deficiencia de Ácido Fólico/complicaciones , Pancitopenia/etiología , Deficiencia de Vitamina B 12/complicaciones , Anciano , Anciano de 80 o más Años , Recuento de Células Sanguíneas , Diagnóstico Diferencial , Femenino , Humanos , Leucemia/diagnóstico , Masculino , Pancitopenia/diagnósticoRESUMEN
UNLABELLED: Elevated plasma homocysteine levels are associated with increased risk of vascular disease and with a relationship between homocysteine values and disease severity. Several studies have shown that the high plasma level of homocysteine is an important predictor for risk of cardiovascular events. We analysed the relationship between homocysteine concentrations and other risk factors into CAD progression in patients of prior myocardial infarction. METHODS: We performed a study including 208 patients (100 men and 108 women) divided into two groups: 104 patients with prior myocardial infarction and 104 without coronary artery disease. RESULTS: The patients with prior myocardial infarction had higher mean values of plasma homocysteine than the controls (18.98 +/- 4.72 vs. 14.09 +/- 3.32 micromol/L, p < or = .001). Multivariate analysis after the adjustment for age, gender and cardiovascular risk factors has identified homocysteine over 15 micromol/L as significant and independent cardiovascular risk factors (odds ratio 2.05; 95% CI 1.56-2.54). The correspondent Receiver Operator Curve shape suggested a good reliability in diagnosis of coronary artery disease for homocysteine (under curve area = 0.671, p < or = 001). CONCLUSION: Our results showed a positive correlation between plasma homocysteine levels and severity of coronary lesions (r = 0.765, p < .005). We suggest the use of homocysteine in clinical practice as marker of cardiovascular risk assessment.