Jaume Palmer

Distal anterior compartment myopathy : A dysferlin mutation causing a new muscular dystrophy phenotype

We report a family with a new phenotype of autosomal recessive muscle dystrophy caused by a dysferlin mutation. The onset of the illness is distal, in the muscles of the anterior compartment group. The disease is rapidly progressive, leading to severe proximal weakness. Muscle biopsy showed moderate dystrophic changes with no vacuoles. Dysferlin immunostaining was negative. Gene analysis revealed a frameshift mutation in the exon 50 (delG5966) of the DYSF gene. This phenotype further demonstrates the clinical heterogeneity of the dysferlinopathies. Ann Neurol 2001;49:130–134

Comparison of Morphologic Assessment of Hypertrophic Cardiomyopathy by Magnetic Resonance Versus Echocardiographic Imaging

To compare the value of echocardiography and magnetic resonance imaging (MRI) in the assessment of the amount and extent of hypertrophy in hypertrophic cardiomyopathy (HC) and, second, to correlate the degree of hypertrophy, as assessed by MRI, with clinical and electrocardiographic parameters, 30 consecutive patients (16 men and 14 women, aged 20 to 74 years) with HC were studied. Measurements of left ventricular wall thickness were performed at 11 predetermined segments (5 basal, 5 midventricular, and 1 apical) by 2-dimensional echocardiography and MRI. Two parameters derived from MRI studies were considered as indicators of the degree and extent of hypertrophy: (1) mean of the measured wall thickness at the 11 segments, and (2) the number of segments with thickness > 15 mm. Results showed that, from a total of 330 myocardial segments, thickness could be measured by echocardiography in 221 (67%), whereas MRI allowed measurement of 320 segments (97%). When compared with clinical and electrocardiographic data, no correlation was found regarding mean wall thickness and number of hypertrophied segments by MRI except for the presence of an abnormal electrocardiographic repolarization pattern. It is concluded that MRI allows a better assessment of the degree and extension of left ventricular hypertrophy than echocardiography in HC. Despite the precise information on hypertrophy provided by MRI, the amount and degree of hypertrophy bears no correlation with most of the clinical data in these patients.

Synovial hemangioma of the knee : MRI findings in two cases

The findings in two patients with histologically proven synovial hemangioma of the knee are described. Both cases emphasize the typical appearance of this unusual tumor on magnetic resonance imaging. Additional radiologic findings, such as adjacent osseous involvement, are discussed.

Computed tomographic findings in bowel ischemia

Computed tomography (CT) has been used in the evaluation of 11 patients with ischemic bowel lesions before confirmation of the disease with surgery or autopsy. The CT abnormalities were thickened bowel wall (10 patients) with post-contrast enhancement (9 patients), dilated fluid-filled bowel (9 patients), intramural low attenuation zones (5 patients), intramural gas (8 patients), and focal or diffuse free intraperitoneal fluid (5 patients). The diagnosis of bowel ischemia should be considered when performing CT in patients with abdominal pain of unknown etiology.

Aggressive angiomyxoma of pelvic soft tissue: CT appearance

A case of aggressive angiomyxoma of pelvic tissue is described. The characteristic clinical presenting symptoms together with radiographic findings can be suggestive of this disease. Computed tomography (CT) clearly depicted a solid mass in the pelvis without invasion of visceral structures and reaching caudally into the perineal region.

Computed tomography as the method of choice in the diagnosis of emphysematous cholecystitis

Computed tomographic (CT) findings in 4 cases of acute emphysematous cholecystitis are described. The use of CT in the diagnosis of this condition is discussed in relation to the use of sonography and plain radiography.

Mycotic aneurysm of the abdominal aorta:CT findings in three patients

Abstract. We present three cases of mycotic aneurysms of the abdominal aorta that were initially diagnosed with computed tomography (CT). The accuracy of CT as the first imaging technique in the diagnosis of this condition is reviewed in light of our results and those reported in the literature.

Focal myositis of the thigh: unusual MR pattern

Focal myositis is a commonly referenced, infrequently reported and poorly documented benign inflammatory pseudotumor which may be misdiagnosed clinically as a malignant tumor. We report the clinicopathologic features and magnetic resonance imaging findings in a case of focal myositis in the thigh of a 55-year-old woman. A different radiologic presentation of this disorder is described. The gross appearance of the lesion, previously undescribed, appears to be rather specific for such a pseudoneoplastic disorder, and correlates very well with the magnetic resonance imaging features.

Manifestaciones radiológicas del condroblastoma

Objetivo Describir los hallazgos radiologicos, en especial los de la resonancia magnetica (RM), y el cuadro clinico-radiologico del condroblastoma. Material y metodos Se trata de un estudio retrospectivo de 18 pacientes con diagnostico de condroblastoma. El grupo de pacientes estaba formado por 12 hombres y 6 mujeres. Su edad media era de 19 anos. Todos fueron estudiados con radiologia convencional; se practico tomografia computarizada (TC) en 12 y RM en 16 casos. Se valoro la localizacion, tamano, patron de destruccion osea, calcificacion de la matriz tumoral, reaccion periostica y la senal en secuencias potenciadas en T1 y T2, asi como la presencia de edema oseo o de partes blandas. Resultados Las lesiones estaban localizadas en el femur distal (n = 6), el humero proximal (n = 5), iliaco (n = 3), el femur proximal, la tibia proximal, la rotula y la escapula. Su diametro vario entre 1 y 10 cm, con una media de 3,5 cm. Se observo calcificacion de la matriz tumoral en el 50% de los casos y reaccion periostica en el 44%. La RM mostro una lesion intramedular homogenea e isointensa respecto al musculo en T1. En T2 la senal es mas variable y siempre heterogenea. El edema perilesional, oseo o de partes blandas se demostro en el 94% de los casos y constituye un hallazgo distintivo de este tumor. Conclusiones El condroblastoma debe sospecharse en un paciente joven con una lesion osteolitica epifisaria. Suele tratarse de una lesion geografica que, a menudo, muestra calcificacion de su matriz y reaccion periostica. La TC y especialmente la RM facilitan el estudio de extension y contribuyen a la caracterizacion de este tumor. El condroblastoma muestra tipicamente edema oseo, reaccion periostica y edema de partes blandas.

Estudio comparativo entre métodos ecocardiográficos y de resonancia magnética en el cálculo de la masa ventricular izquierda

Aim of the study. Echocardiography is a widely applied technique for the estimation of left ventricular mass, although magnetic resonance is considered as a reference method for this purpose. Both techniques were compared in the present study and the usefulness of a simplified method of calculation by magnetic resonance was also tested. Methods. Left ventricular mass was determined in 42 patients by M-mode echocardiography by the application of two equations: the so-called Penn’s convention and that proposed by the American Society of Echocardiography. Magnetic resonance studies were also performed, left ventricular mass being estimated from an anatomical method (summation of contiguous tranverse ventricular slices) that was considered as a reference, and also by means of a geometrical method (planimetry on a single longitudinal view). Results. Echocardiographic studies were judged as technically inadequate in 3/42 (7%) patients, while magnetic resonance was performed in all cases. Comparison between each echocardiographic method and the anatomical method of magnetic resonance showed a coefficient correlation of r = 0.70 (Penn’s convention formula), and r = 0.71 (American Society of Echocardiography), with an overestimation being observed, particularly with Penn’s convention method. The geometrical method of magnetic resonance showed an excellent correlation with the anatomical technique (r = 0.93). Conclusions. Magnetic resonance is more applicable for the estimation of left ventricular mass than M-mode echocardiography, with the latter showing an overestimation when compared with magnetic resonance, particularly with the Penn’s convention method. A simplified method of geometrical estimation of left ventricular mass by magnetic resonance is a reliable alternative to the anatomical method.AIM OF THE STUDY Echocardiography is a widely applied technique for the estimation of left ventricular mass, although magnetic resonance is considered as a reference method for this purpose. Both techniques were compared in the present study and the usefulness of a simplified method of calculation by magnetic resonance was also tested. METHODS Left ventricular mass was determined in 42 patients by M-mode echocardiography by the application of two equations: the so-called Penns convention and that proposed by the American Society of Echocardiography. Magnetic resonance studies were also performed, left ventricular mass being estimated from an anatomical method (summation of contiguous transverse ventricular slices) that was considered as a reference, and also by means of a geometrical method (planimetry on a single longitudinal view). RESULTS Echocardiographic studies were judged as technically inadequate in 3/42 (7%) patients, while magnetic resonance was performed in all cases. Comparison between each echocardiographic method and the anatomical method of magnetic resonance showed a coefficient correlation of r = 0.70 (Penns convention formula), and r = 0.71 (American Society of Echocardiography), with an overestimation being observed, particularly with Penns convention method. The geometrical method of magnetic resonance showed an excellent correlation with the anatomical technique (r =0.93). CONCLUSIONS Magnetic resonance is more applicable for the estimation of left ventricular mass than M-mode echocardiography, with the latter showing an overestimation when compared with magnetic resonance, particularly with the Penns convention method. A simplified method of geometrical estimation of left ventricular mass by magnetic resonance is a reliable alternative to the anatomical method.