Pompe's disease or type IIa glycogenosis.

This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final diagnosis, because in the histopathologic study marked increased glycogen accumulation was evident. Death occurred two months after symptom onset.

Absence of the left pericardium diagnosed by computed tomography.

A case report of left pericardial absence in a 12-year-old boy is described. The suspected diagnosis was not shown either by cross-sectional echocardiography or angiography, but was correctly established by computed tomography (CT), showing the effectiveness of this diagnostic test for diagnosis of pericardial defects.

[Rupture of the left ventricular free wall. A lethal entity that can be surgically treated with success]. / Ruptura da parede livre do ventrículo esquerdo. Uma entidade letal que pode ser tratada cirurgicamente com sucesso.

We present three patients with left ventricular free wall rupture post acute myocardial infarction, all three treated successfully through surgery. Two of them were submitted to streptokinase IV. In all cases the diagnosis were based on clinical and echocardiographic features. The authors conclude that the diagnostic suspicion can be done easily, the echocardiogram is very useful, and the surgical treatment may led to a good short- and long-term survival.

[Diagnosis and therapeutic follow-up of patients with massive pulmonary emboli by two-dimensional echocardiography]. / Diagnóstico e acompanhamento terapêtico de pacientes com embolia pulmonar maciça através da ecocardiografia bidimensional.

PURPOSE: The aim of the study was to analyse the role of 2D echocardiogram (ECHO) in the diagnosis of massive pulmonary embolism (PE), and in the follow-up after fibrinolytic or surgical treatment. METHODS: Echocardiographic studies were retrospectively analysed in seven patients, 5 male, mean age 37 +/- 19 years, with massive pulmonary embolism (PE) confirmed by pulmonary angiography. Six of them were submitted to fibrinolytic therapy with IV streptokinase (SK), and one underwent surgery. The diagnosis of PE by ECHO was made by the detection of thrombi in the pulmonary vascular bed. ECHO measurements included the right ventricular diastolic diameter (RVDD), interventricular septal motion (IVS), acceleration time (AcT), and peak pulmonary artery pressure (PAP). RESULTS: The ECHO study diagnosed thrombi in five out of seven patients (71%), mainly if they were present in the right main pulmonary artery (four cases -80%). It was also able to locate one out of five patients with thrombus in the right lobar artery and one out of two patients in the left main pulmonary artery; it was unable to identify six patients with involvement of the left lobar arteries. Four out of five patients with PE, diagnosed by ECHO, were submitted to fibrinolytic therapy, and one underwent surgery. The follow-up study showed dissolution of the thrombus in three of those with SK and in the one with surgical treatment. The initial ECHO study showed five out of 7 patients with increased RVDD, 5/7 patients with abnormal IVS motion, and all of them with decreased AcT (64 +/- 16 ms). The PSP was 64.4 +/- 22.8 mmHg by ECHO, versus 75.4 +/- 24.03 mmHg by angiography (r = 0.78; p = 0.11). There was a reduction of the RVDD (30 +/- 5.02 to 23 +/- 2.2) and an increased of the AcT (50 +/- 10.8 to 106.67 +/- 16) at the serial examination. CONCLUSION: The ECHO study is an important tool for the diagnosis of PE, informing about pulmonary pressure, presence and position of thrombus, and treatment results.