Asunto(s)
Antituberculosos/uso terapéutico , Mycobacterium tuberculosis/aislamiento & purificación , Absceso Retrofaríngeo/diagnóstico , Absceso Retrofaríngeo/tratamiento farmacológico , Tuberculosis/diagnóstico , Tuberculosis/tratamiento farmacológico , Adolescente , Trastornos de Deglución/microbiología , Drenaje , Femenino , Humanos , Absceso Retrofaríngeo/microbiología , Absceso Retrofaríngeo/cirugía , Resultado del Tratamiento , Tuberculosis/microbiologíaAsunto(s)
Vesícula/patología , Lupus Eritematoso Sistémico/patología , Adulto , Antimaláricos/uso terapéutico , Artralgia/patología , Vesícula/etiología , Diagnóstico Diferencial , Quimioterapia Combinada , Glucocorticoides/uso terapéutico , Humanos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Masculino , Mucosa Bucal/patología , Cuello/patología , Enfermedad de Raynaud/patología , Tórax/patología , Resultado del Tratamiento , Extremidad Superior/patologíaRESUMEN
The acronym RACAND means the association of Raynaud's phenomenon, anticentromere antibodies and digital necrosis without digital sclerosis. It is a rare syndrome recently individualised. The association with primary biliary cirrhosis has never been previously reported, and leads to discuss its nosology. A 57-year-old woman with a history of Raynaud's phenomenon, presented with recurrent episodes of fingers and toes necrosis. Clinical examination did not evidence digital sclerosis. Anticentromere antibody titer was high. There was no oesophageal or lung involvement. A liver biopsy performed because of moderate increase in liver enzymes showed histological lesions of primary biliary cirrhosis. Treatment with iloprost, platelet aggregation inhibitors and anticalcic drugs could not avoid amputation of several toes. It is possible that anticentromere antibodies are directly toxic to vascular endothelial cells and result in a diffuse or localized vasculopathy. The association with primary biliary cirrhosis is in favour of autoimmune condition of both vascular and ductular endothelial cells.
Asunto(s)
Cirrosis Hepática Biliar/etiología , Enfermedad de Raynaud/complicaciones , Dedos del Pie/patología , Anticuerpos Antinucleares/sangre , Femenino , Humanos , Persona de Mediana Edad , Necrosis , Enfermedad de Raynaud/sangre , SíndromeRESUMEN
Septic pylephlebitis or purulent thrombosis of the portal venous system generally results from a progressive extension of suppurated thrombophlebitis, secondary to an intrabdominal infection. Germs most often found are Escherichia coli and Streptococcus, isolation of Enterobacter cloacae is unusual. We report a particular observation of septic pylephlebitis associated with E. cloacae bacteremia, without biliary, digestive or pancreatic lesion on the CT-scan. The antibiotic sensitivity pattern of the isolated germ and the negative epidemiologic investigation pled in favour of community acquired infection. The infection resolved with antibiotics and anticoagulation, followed by total repermeation of the portal system.
Asunto(s)
Bacteriemia/complicaciones , Enterobacter cloacae/aislamiento & purificación , Infecciones por Enterobacteriaceae/complicaciones , Vena Porta , Trombosis de la Vena/etiología , Dolor Abdominal/etiología , Adulto , Antibacterianos/uso terapéutico , Anticoagulantes/uso terapéutico , Bacteriemia/tratamiento farmacológico , Bacteriemia/microbiología , Ceftriaxona/administración & dosificación , Ceftriaxona/uso terapéutico , Infecciones Comunitarias Adquiridas/complicaciones , Infecciones Comunitarias Adquiridas/tratamiento farmacológico , Infecciones Comunitarias Adquiridas/microbiología , Quimioterapia Combinada , Enoxaparina/uso terapéutico , Infecciones por Enterobacteriaceae/tratamiento farmacológico , Infecciones por Enterobacteriaceae/microbiología , Fiebre/etiología , Gentamicinas/administración & dosificación , Gentamicinas/uso terapéutico , Humanos , Imagen por Resonancia Magnética , Masculino , Metronidazol/administración & dosificación , Metronidazol/uso terapéutico , Tomografía Computarizada por Rayos XRESUMEN
McArdle's disease (MAD) is a rare hereditary myopathy secondary to a deficit in myophosphorylase, an essential enzyme for the use of muscular glycogen reserves. Exercise intolerance to a variable degree is the fundamental manifestation. Muscular enzymes are usually normal or slightly elevated, except during episodes of rhabdomyolysis. Generally, the electromyogram has poor sensitivity for the diagnosis of exercise myopathies. The muscular biopsy can be misleadingly normal. The role of MRI in the diagnosis of MAD is not well clarified in the literature. We report the case of a 16-year-old patient, hospitalized in July 2008 for exercise intolerance. On admission, he was asymptomatic and the physical examination was non contributive. Serum creatine kinase levels and renal function measures were normal. Cycloergometer exercise testing unmasked the disease. EMG and muscular biopsies were normal. During the second hospitalization, this time for rhabdomyolysis, T2 weighted MRI of the thighs showed high intensity signals from the gracilis muscles. The control MRI, made after 2 weeks of rest, was normal. Right gracilis muscle biopsy demonstrated excess glycogen with myophosphorylase deficiency, establishing the diagnosis of MAD. MAD is a rare metabolic myopathy to consider in patients with a history of exercise intolerance. The muscle biopsy can be misleadingly normal and should be, to our opinion, be guided by MRI findings.
Asunto(s)
Ejercicio Físico , Enfermedad del Almacenamiento de Glucógeno Tipo V/diagnóstico , Rabdomiólisis/diagnóstico , Adolescente , Biopsia , Electromiografía , Glucógeno/análisis , Glucógeno Fosforilasa de Forma Muscular/análisis , Glucógeno Fosforilasa de Forma Muscular/deficiencia , Humanos , Imagen por Resonancia Magnética , Masculino , Músculo Esquelético/química , Músculo Esquelético/enzimología , Músculo Esquelético/patología , Rabdomiólisis/etiologíaRESUMEN
INTRODUCTION: The liver and central nervous system are the usual targets of Wilson's disease, an inherited disorder of copper metabolism. Severe hemolytic anemia is an unusual complication of Wilson's disease. EXEGESIS: We report a case of Wilson's disease revealed by acute intravascular repeating hemolytic anemia associated with liver failure. The initially negative etiologic investigation was directed by occurred of liver failure. The genetic study allowed to discover an other similar case. The evolution was favourable under treatment with zinc sulfate and penicillamine. DISCUSSION: Diagnosis of Wilson's disease must be considered in case of acute hemolytic anemia associated with liver failure in young adults.
Asunto(s)
Anemia Hemolítica/etiología , Degeneración Hepatolenticular/diagnóstico , Enfermedad Aguda , Arritmias Cardíacas/etiología , Quelantes/uso terapéutico , Terapia por Quelación , Niño , Consanguinidad , Cobre , Disnea/etiología , Femenino , Degeneración Hepatolenticular/complicaciones , Degeneración Hepatolenticular/tratamiento farmacológico , Degeneración Hepatolenticular/genética , Humanos , Ictericia Obstructiva/etiología , Fallo Hepático/etiología , Masculino , Penicilamina/uso terapéutico , Recurrencia , Adulto Joven , Sulfato de Zinc/uso terapéuticoRESUMEN
INTRODUCTION: Erdheim-Chester disease (ECD) is a rare non-langerhans cell histiocytosis of unknown etiology. It is a multi-systematic xanthogranulomatous infiltration with almost constant bone involvement; the neurological manifestations are not specific and occur in 15-20% of cases. METHODS: We report the case of a 59-year-old woman hospitalized for a frontal syndrome and right hemiparesis. RESULTS: Imaging revealed a left caudate nucleus process with recent infarct. Cardiovascular involvement and bilateral osteosclerosis of long bones strongly suggested ECD, confirmed after biopsies of the pericardium and bone. CONCLUSION: Pseudo-tumor encephalic ECD is very rare; the caudate nuclei is an unusual localization; ischemic stroke has been exceptionally described. Prognosis depends largely on the involvement of the central nervous and cardiovascular systems.
Asunto(s)
Enfermedad de Erdheim-Chester/complicaciones , Seudotumor Cerebral/complicaciones , Huesos/diagnóstico por imagen , Huesos/patología , Encéfalo/patología , Infarto Cerebral/patología , Enfermedad de Erdheim-Chester/diagnóstico por imagen , Enfermedad de Erdheim-Chester/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Pericardio/patología , CintigrafíaRESUMEN
We report a historical case of hyperparathyroidism in a young patient hospitalized for an array of osteolytic foci and incomplete fracture associated with a swollen neck, revealing a very special form of a metastatic parathyroid carcinoma with unusual multiple locations and exceptional medullary flooding. Carcinoma of the parathyroid gland produces a malignant hypersecreting tumor particularly difficult to diagnose. Treatment of this rare tumor is primarily surgical. The preoperative syndrome is unusually severe primary hyperparathyroidism. Intraoperatively, the size of the tumor and its local extension to surrounding tissue are highly suggestive. Confirmation requires pathological analysis of the operative specimens and can be further supported by the clinical course of local recurrence or metastasic spread. Specific immunohistochemical techniques have recently been shown to be contributive. The diagnosis is strengthened in the presence of associated Schantz and Castelman criteria. Foci of local extension can be identified preoperatively with ultrasound, (99m)Tc-sestamibi scintigraphy and MRI of the neck and mediastinum. The prognosis depends mainly on the possibility of achieving complete resection at the initial surgery. In some cases, very aggressive complementary postoperative radiotherapy is likely to improve locoregional control of the tumor. Chemotherapy alone or in combination with radiation has not demonstrated its effectiveness. The disease course and control can be monitored by regular assay of serum calcium and the parathormone.
Asunto(s)
Hiperparatiroidismo/patología , Neoplasias de las Paratiroides/patología , Adulto , Femenino , Estudios de Seguimiento , Humanos , Neoplasias de las Paratiroides/diagnóstico por imagen , Neoplasias de las Paratiroides/cirugía , Cintigrafía , Radiofármacos , Tecnecio Tc 99m Sestamibi , Resultado del TratamientoRESUMEN
While muscular manifestations are common of hypothyroidism, hypothyroid myopathy is most often limited to myalgia, muscular stiffness and cramps with, in some patients, elevated levels of muscle enzymes. We report two cases of rhabdomyolysis related to hypothyroid myopathy. One of the patients developed acute renal failure. Thyroid hormone replacement therapy improved thyroid and renal function with involution of rhabdomyolysis. Hypothyroidism appears to be an authentic cause of rhabdomyolysis and should be carefully ruled out in all patients with elevated serum levels of muscle enzymes.
Asunto(s)
Hipotiroidismo/diagnóstico , Rabdomiólisis/etiología , Tiroiditis Autoinmune/diagnóstico , Humanos , Hipotiroidismo/sangre , Hipotiroidismo/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Hormonas Tiroideas/uso terapéutico , Tirotropina/sangre , Tiroxina/sangre , Resultado del Tratamiento , Triyodotironina/sangreRESUMEN
Non-Hodgkin's malignant lymphoma is rarely located in the soft tissue of the chin making diagnosis difficult. Clinical signs are non-specific: progressive weight loss, asthenia, fever, an inflammatory tumefaction unresponsive to medical treatment. Imaging shows a homogeneous tumefaction of the soft tissues. Pathology and immunohistochemistry establish the diagnosis.
Asunto(s)
Mentón/patología , Neoplasias Faciales/patología , Linfoma de Células B/patología , Neoplasias de los Tejidos Blandos/patología , Adulto , Diagnóstico Diferencial , Humanos , Inmunohistoquímica , MasculinoAsunto(s)
Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pleurales/diagnóstico por imagen , Espondilitis Anquilosante/complicaciones , Adulto , Femenino , Humanos , Enfermedades Pulmonares/etiología , Masculino , Persona de Mediana Edad , Enfermedades Pleurales/etiología , Estudios Prospectivos , Tomografía Computarizada por Rayos XRESUMEN
Sneddon syndrome is an association of livedo racemosa and cerebrovascular ischemic events generally occurring in young adults. This is an uncommon chronic progressive arterio-occlusive disorder of unknown cause involving small and medium sized vessels. We report four cases. One case was disclosed by cerebral hemorrhage. One pathogenic hypothesis suggests the involvement of an idiopathic progressive inflammatory arteriopathy or secondary thrombotic disorder comparable with antiphospholipid syndrome.
Asunto(s)
Síndrome de Sneddon/diagnóstico , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Síndrome de Sneddon/etiologíaRESUMEN
The case of a 52-year-old man with retroperitoneal fibrosis and ankylosing spondylitis is described. Inflammatory low back pain and acute renal insufficiency prompted a computed tomography scan of the abdomen with contrast agent injection. A fibrous sheath surrounding the aorta and attracting the ureters toward the midline was seen, strongly suggesting retroperitoneal fibrosis. The diagnosis of ankylosing spondylitis was based on the presence of inflammatory low back pain responsive to nonsteroidal anti-inflammatory drugs, syndesmophytes at the lumbar and cervical spine, bilateral sacroiliitis, and presence of the HLA-B27 antigen. Prednisone therapy in a daily dosage of 1 mg/kg induced a marked improvement. Only nine cases of concomitant retroperitoneal fibrosis and ankylosing spondylitis have been reported. These two conditions share similarities in some of the etiologic factors and anatomic localizations, suggesting that both may stem from a predisposition to fibrotic diseases.
Asunto(s)
Fibrosis Retroperitoneal/patología , Espondilitis Anquilosante/patología , Abdomen , Antiinflamatorios no Esteroideos/uso terapéutico , Antígeno HLA-B27/inmunología , Humanos , Dolor de la Región Lumbar/complicaciones , Dolor de la Región Lumbar/tratamiento farmacológico , Dolor de la Región Lumbar/patología , Masculino , Persona de Mediana Edad , Prednisona/uso terapéutico , Fibrosis Retroperitoneal/complicaciones , Fibrosis Retroperitoneal/tratamiento farmacológico , Fibrosis Retroperitoneal/inmunología , Articulación Sacroiliaca/microbiología , Espondilitis Anquilosante/complicaciones , Espondilitis Anquilosante/tratamiento farmacológico , Espondilitis Anquilosante/inmunología , Tomografía Computarizada por Rayos XRESUMEN
The authors report the results of prospective study, which compared 75 sports subjects and 45 witnesses. All subjects were male, the differentiating parameter being the type of sport practiced. This work analysed surface Electrocardiogramme, thransthoracic echocardiography and high amplification ECG. The statistical study used the student test t compare means and the Chi2 test for the percentages, the signification limit was fixed to 5%. Clinically, our two series didn't show a significant statistical difference, concerning: age, weight, height or arterial pressure. On the electrocardiographical level, the sport's men have a lower cardiac frequency (p = 0.005), a larger PR space (p = 0.05), an important Sokolow parameter (p < 0.005), and repolarisation disorders represented, essentially by negative T waves (p = 0.02) and an upper movement of ST segment in V2-V3 (p < 0.005). Echocardiography showed a dilatation of the right cavities: right auricular (p = 0.0125) and right ventricular (p = 0.025). Move over, it has been showed that the sport's men left ventricular walls were tabor (septal wall, p = 0.0125), (posterior wall, p = 0.025), despite a difference in the values of the left ventricular telediastolic diameter (4 mm average in the two series). The signification limit was not reached and it was also showed that the left auricular was also dilated (p = 0.025). The study of the delayed Potentials, tried to bring an explication to certain sudden deaths of sport's men which are to date unexplained and which could have a rhythmical origin? It is also to be noted that sport's men present more delayed ventricular Potentials. However, the statistical signification was not reached (p = 0.07).
Asunto(s)
Ecocardiografía , Electrocardiografía , Corazón/fisiología , Deportes/fisiología , Adulto , Boxeo/fisiología , Distribución de Chi-Cuadrado , Interpretación Estadística de Datos , Muerte Súbita Cardíaca/etiología , Fútbol Americano/fisiología , Frecuencia Cardíaca , Humanos , Masculino , Estudios Prospectivos , Carrera/fisiología , Función VentricularRESUMEN
INTRODUCTION: The main issue in venous thrombotic events is their etiology. Several clinical and/or biological data can be helpful in that research. In the two cases we report here, a macrocytic anemia led to the diagnosis of probably acquired hyperhomocysteinemia. FIRST CASE: a 24-year-old man was admitted for severe anemia and a superior vena cava syndrome. Biological data showed megaloblastic anemia and mild features of blood destruction that were explained by a pernicious anemia. Second case: a 35-year-old man had two deep venous thrombotic events in one year (involving the right leg, then the left leg); biological findings showed a macrocytic mild anemia that was diagnosed as a pernicious anemia. In both of the patients, deep venous thrombosis was mainly explained by a hyperhomocysteinemia that was a consequence of vitamin B12 deficiency. The two patients improved under anticoagulant treatment combined with subcutaneous vitamin B12. CONCLUSION: Pernicious anemia can cause acquired hyperhomocysteinemia, which is considered a risk factor for deep venous thrombosis. Thus, the connectivity of these conditions should remain in the practitioner's mind, especially when thrombosis occurs along with a macrocytic anemia.
Asunto(s)
Anemia Perniciosa/complicaciones , Hiperhomocisteinemia/complicaciones , Hiperhomocisteinemia/etiología , Trombosis de la Vena/etiología , Adulto , Anemia Perniciosa/diagnóstico , Humanos , Inyecciones Subcutáneas , Masculino , Factores de Riesgo , Vitamina B 12/uso terapéuticoRESUMEN
The aim of the study was to evaluate the prevalence of sacroiliitis in a group of patients with Behçet's disease (BD). Pelvic X-rays of 27 patients with BD responding to the International Study Group of BD and 30 controls (15 AS and 15 sciatica) were read blind and sacroiliac involvement was graded according to the New York criteria. In a second step, patients or controls with equivocal sacroiliitis had a sacroiliac CT scan. Two patients with BD (7.4%) and all patients with AS had evident bilateral sacroiliitis (at least grade 2). One patient with BD and two patients with sciatica had equivocal sacroiliitis (grade 1). CT confirmed sacroiliitis in the two patients with BD and eliminated inflammatory sacroiliitis in the three other patients with equivocal sacroiliitis showing mild degenerative lesions. A review of the literature showed that sacroiliitis and AS are rarely associated with BD. There remains insufficient evidence to suggest that sacroiliitis is an intrinsic feature of BD and that BD belongs to the group of SpA.
Asunto(s)
Síndrome de Behçet/complicaciones , Articulación Sacroiliaca , Espondilitis Anquilosante/etiología , Adulto , Femenino , Humanos , Masculino , Radiografía , Articulación Sacroiliaca/diagnóstico por imagen , Espondilitis Anquilosante/diagnóstico por imagenRESUMEN
Endomyocardial fibrosis is very rare in Behcet's disease. The authors report the case of a 28 year old patient with Behcet's disease complicated by a pseudo-tumoral right ventricular formation on echocardiography. This misleading appearance suggested the diagnosis of cardiac thrombus or tumour and led to a surgical approach which revealed a fibrous moderator band suggesting endomyocardial fibrosis, confirmed by antomopathological analysis. Besides the originality of this case and the unusual pseudo-tumoral presentation, the authors underline the difficulties of establishing the diagnosis, despite the advances of medical imaging. The pseudo-tumoral intra-cardiac lesion in a suggestive clinical context (Behcet's disease) should raise suspicion of the diagnosis of endomyocardial fibrosis.