RESUMEN
The most potential causes of "non hemolytic" anemias are iron, folate or vitamin B12 deficiencies, severe renal impairment, endocrine diseases, inflammation and medullary disorders. In a non-exceptionnal way no cause is found, sometimes because of a wrong interpretation of analysis results and sometimes because of a little known etiology. The goal of this review is to point out analytical difficulties and to remember some rarer etiologies.
Asunto(s)
Anemia/diagnóstico , Anemia/etiología , Técnicas y Procedimientos Diagnósticos , Medicina Interna/métodos , Factores de Edad , Algoritmos , Anemia/genética , Anemia Sideroblástica/diagnóstico , Árboles de Decisión , Humanos , Enfermedades RarasRESUMEN
BACKGROUND: Interstitial lung disease, cutaneous rash and elevated serum angiotensin converting enzyme (ACE) may suggest diagnoses other than sarcoidosis. PATIENTS AND METHODS: A 58-year-old man had presented dyspnoea for 2 years with increased angiotensin-converting enzyme, as well as an interstitial syndrome and micronodules. The possibility of sarcoidosis was raised. Systemic corticosteroids resulted in improvement of the dyspnoea although it recurred on dose reduction. We noted fluctuating eczematous macules of the limbs with a histology of aspecific folliculitis. The identification of Mycobacterium avium complex (MAC) in the bronchoalveolar wash prompted us to initiate antimycobacterial therapy, but this was to no avail. Review of the CT-scan and questioning of the patient (daily use of a Jacuzzi for 7 years) resulted in diagnosis of hypersensitivity pneumonitis due to MAC. The cutaneous lesions were taken to indicate "hot tub folliculitis". Discontinuation of hot-tub use and a short course of oral corticosteroids resulted in healing within 4 months, with no recurrence at 2 years. DISCUSSION: HTL is a form of hypersensitivity pneumonitis due to the presence of MAC in the water of Jacuzzis. This condition regresses spontaneously without treatment on discontinuation of Jacuzzi use. Hot-tub folliculitis due to Pseudomonas aeruginosa (PA) presents as macules and papules on covered skin areas (swimsuit) within 48hours of bathing and often declines within 2 weeks. CONCLUSION: Our case is original as regards the concomitant lung and cutaneous involvement associated with Jacuzzi use, with an immunoallergic mechanism for the MAC and probably an infectious mechanism for the PA.
Asunto(s)
Alveolitis Alérgica Extrínseca/etiología , Baños/efectos adversos , Foliculitis/etiología , Complejo Mycobacterium avium/aislamiento & purificación , Infección por Mycobacterium avium-intracellulare/etiología , Infecciones por Pseudomonas/etiología , Pseudomonas/aislamiento & purificación , Microbiología del Agua , Alveolitis Alérgica Extrínseca/microbiología , Diagnóstico Diferencial , Disnea/etiología , Foliculitis/microbiología , Calor , Humanos , Masculino , Persona de Mediana Edad , Sarcoidosis Pulmonar/diagnósticoRESUMEN
PURPOSE: McArdle's disease (MAD) or glycogen storage disease type V, usually starts in childhood or adolescence. Generally diagnosis is made before the early adulthood because patients present well defined syndrome and are constrained. METHOD: We retrospectively investigated all MAD cases diagnosed in the biochemical laboratory from Debrousse Hospital in Lyon, during 40 years (1962-2002). We then selected patients whose diagnosis had been made after 30 years. RESULTS: Fifteen patients answered our criteria but only 11 files could be analysed. A twelfth patient (service of internal medicine--Royan) supplemented the series. We sought the reasons of a late diagnosis: early age of beginning but few symptoms (7 cases), age of beginning higher than 20 years (5 cases including 3 after 45 years). The principal symptoms were muscular deficit and muscular pains (8 cases) and second wind phenomenon (7 cases). Creatinine phosphokinase level was constantly high. Ischemic effort test when it was carried out was constantly abnormal. Conversely electromyogram was often normal (5 cases). Several biopsies were necessary in a third of the cases to evoke the diagnosis, particularly among the patients with late onset symptoms. CONCLUSION: Diagnosis of metabolic MAD is generally easy if the interrogation finds inaugural symptoms in childhood or adolescence even if the patient consults very late in the life. The diagnosis can become much more difficult if it begins late in life (atypical symptoms, need for several muscular biopsy).
Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo V/diagnóstico , Adulto , Factores de Edad , Anciano , Biopsia , Creatina Quinasa/análisis , Electromiografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Estudios RetrospectivosRESUMEN
Since 3 years, a 74 year-old man suffered of swallowing impairment, weight loss, bilateral ptosis and proximal muscular weakness. Electron microscopy disclosed intranuclear tubular filaments and confirmed the diagnosis of oculopharyngeal muscular dystrophy. Upper oesophageal sphincter myotomy was performed with complete improvement. Four months after surgery, swallowing disorders were not recurrent and weight gain was substantial.
Asunto(s)
Unión Esofagogástrica/cirugía , Distrofias Musculares/cirugía , Músculos Oculomotores , Músculos Faríngeos , Anciano , Blefaroptosis/etiología , Blefaroptosis/cirugía , Trastornos de Deglución/etiología , Trastornos de Deglución/cirugía , Humanos , Masculino , Distrofias Musculares/complicacionesAsunto(s)
Infecciones por Chlamydia/diagnóstico , Enfermedades de los Genitales Femeninos/diagnóstico , Peritonitis/diagnóstico , Adulto , Anticuerpos Antibacterianos/análisis , Chlamydia trachomatis , Pruebas de Fijación del Complemento , Doxiciclina/uso terapéutico , Eritromicina/uso terapéutico , Femenino , Humanos , Laparoscopía , SíndromeRESUMEN
The authors report on a new case of leiomyosarcoma of the inferior vena cava, to add to the sixty five cases already mentioned in the literature. The patient had been suffering from subcostal pains for 12 years, and an adenomyoma of the gall bladder was diagnosed. The tumor was discovered in the course of a cholecystectomy. The vena cava was resected and ligated below the renal veins. After describing the case, the authors go on to review the literature and stress the fact that the prognosis, which is often severe, could be improved by earlier diagnosis.
Asunto(s)
Leiomiosarcoma/cirugía , Vena Cava Inferior/cirugía , Diagnóstico Diferencial , Femenino , Enfermedades de la Vesícula Biliar/diagnóstico , Hepatectomía , Humanos , Leiomiosarcoma/diagnóstico , Persona de Mediana Edad , Pronóstico , Radiografía , Venas Renales/cirugía , Enfermedades Vasculares/diagnóstico , Enfermedades Vasculares/cirugía , Vena Cava Inferior/diagnóstico por imagen , Vena Cava Inferior/patologíaAsunto(s)
Leiomiosarcoma/cirugía , Neoplasias de Tejido Vascular/cirugía , Vena Cava Inferior , Femenino , Humanos , Leiomiosarcoma/diagnóstico por imagen , Métodos , Persona de Mediana Edad , Neoplasias de Tejido Vascular/diagnóstico por imagen , Radiografía , Vena Cava Inferior/diagnóstico por imagenAsunto(s)
Coagulación Sanguínea , Inmunoglobulinas/análisis , Sífilis/sangre , Femenino , Humanos , Persona de Mediana EdadRESUMEN
The authors report a case of severe hyperkalemia (7 mmol/l) in an insulin-dependent diabetic in the absence of renal failure. This hyperkalemia was due to hypoaldosteronism caused by inadequate hormone biosynthesis in the absence of 21-hydroxylase. Replacement therapy allowed normalization of clinical and laboratory parameters. The various causes of hyperkalemia in the absence of renal failure in insulin-dependent diabetes are discussed, notably the renin deficiency hypoaldosteronism syndrome. This case study is remarkable for a number of reasons, including the very limited degree of virilization, the occurrence of a pregnancy, and the degree of salt excretion. This is a new observation in the diabetic, and is apparently a coincidental association since deficits in 21-hydroxylase are not usually associated with insulin-dependent diabetes.
Asunto(s)
Hiperplasia Suprarrenal Congénita , Diabetes Mellitus Tipo 1/complicaciones , Hiperpotasemia/etiología , Esteroide Hidroxilasas/deficiencia , Adulto , Aldosterona/deficiencia , Diabetes Mellitus Tipo 1/enzimología , Femenino , Humanos , Hiperpotasemia/fisiopatologíaRESUMEN
A further case of leiomyosarcoma of the inferior vena cava is described, bringing the total number reported in the published literature to 63. The tumor was located in the inter-renal segment of the vena cava, and was effectively removed by excision combined with venous reconstruction, enabling conservation of the renal veins. These malignant tumors occur more frequently in women, and their symptomatology varies according to their location in either the upper, middle or lower area of the inferior vena cava. Upper segment tumors are revealed by a Budd-Chiari syndrome or obstruction of the right atrium and are usually rapidly fatal. Middle and lower segment tumors can be treated surgically, if diagnosis is made early enough and cavography is conducted.