RESUMEN
An X-linked spinal muscular atrophy is reported in one family. Four of the five patients were examined. In three, electromyography, conduction nerve velocities and muscle biopsy were consistent with anterior horn cell disease. Similar families in the literature were reviewed and characteristic data were: 1) adult-onset, 2) proximal, bulbar and facial involvement, 3) prominent perioral fasciculations, 4) frequent association of cramps, tremor and sexual dysfunction (hypogonadism and gynecomastia), 5) very slow progression and favorable prognosis. These characteristics define, among the spinal muscular atrophies, a distinct entity named by several authors Kennedy's disease.
Asunto(s)
Atrofia Muscular/genética , Cromosoma X , Adulto , Electrofisiología , Femenino , Humanos , Masculino , Músculos/patología , Músculos/ultraestructura , Atrofia Muscular/fisiopatología , LinajeRESUMEN
In a 59 years old woman presenting a rudimentary picture of myocardial infarction, ventriculograms confirm a limited necrosis and coronarography shows an abnormal vascular image, evoking an intracardiac tumor, while the arteries are free of atherosclerosis or thrombosis on angiography. Although auscultation and echography are normal, the diagnosis of myxoma will be confirmed by angiocardiography, then by surgery and pathology. The advantage of selective coronary angiography in myxomas is considered with 24 cases from the literature having undergone this examination, including 20 cases, among which ours, which present an aspect of "tumoral vascularisation". The particularities of coronarography (aneurysms, embolic obstruction, origin and aspect of hypervascularisation) are analyzed. This technique appears very useful, not only to detect a complication of the tumor or an associated coronaritis, but also to help in the diagnosis of myxomas in cases where angiocardiography or mostly echocardiography are deficient.
Asunto(s)
Angiografía Coronaria , Neoplasias Cardíacas/diagnóstico por imagen , Mixoma/diagnóstico por imagen , Enfermedad Coronaria/etiología , Femenino , Neoplasias Cardíacas/irrigación sanguínea , Neoplasias Cardíacas/complicaciones , Humanos , Persona de Mediana Edad , Mixoma/irrigación sanguínea , Mixoma/complicacionesRESUMEN
Cauda equina syndrome is a rare neurological complication of ankylosing spondylitis. The specific myelographic and tomodensitometric anomalies are exemplified by the reported observation. This case is unusual by the moderation of the neurological manifestations, and especially by the absence of sphincteral disorders. The characteristic roentgenologic signs of ankylosing spondylitis are associated with a scalloped appearance of the lumbar spinal column and antecedent quiescent acromegaly.
Asunto(s)
Acromegalia/complicaciones , Mielografía , Síndromes de Compresión Nerviosa/etiología , Canal Medular/diagnóstico por imagen , Espondilitis Anquilosante/complicaciones , Tomografía Computarizada por Rayos X , Anciano , Cauda Equina , Femenino , Humanos , Síndromes de Compresión Nerviosa/diagnóstico por imagenRESUMEN
Slowly progressive cervical cord symptoms over a 2 year period led to the diagnosis of Waldenström macroglobulinemia in a 32 year old man. Diagnosis was made on the finding of circulating monoclonal IgM and lymphocyte infiltration of the bone marrow. Perimedullary infiltration of cervico-dorsal cord was visualized by CT scan. No other tumor tissue was found. Intrathecal secretion of IgM in the CSF was demonstrated. Cervico-dorsal cord radiotherapy followed by systemic chemotherapy led to a rapid improvement in the neurological signs. Reports of spinal cord lesions in Waldenström macroglobulinemia are rare and the relationship of this condition with respect to so-called secreting neurolymphomatosis is discussed.