Cardiomyopathy as the first manifestation of Friedreich's ataxia.

We present the case of a female patient diagnosed in childhood with Friedreich Ataxia (FA). At the age of 6, she developed left congestive heart failure with cardiomyopathy, as evident on echocardiogram. Neurologic signs only appeared at age 7, including marked loss of muscle mass, gait instability, muscle clonus, and Babinski's signal. At age 27, she had a stroke and was hospitalized; a few days later, she had a cardiorespiratory arrest with asystole, leading to death. The autopsy disclosed severe cardiomyopathy and significant myocardial replacement with fibrosis; therefore, the cause of death was assumed to be heart failure. Compared to the literature, our case has some unique features, such as cardiac disease as the presenting manifestation instead of gait instability, which is the major initial sign in most FA cases. Since our patient was submitted to an autopsy, it was an opportunity to retrieve important data to confirm the diagnosis and to evaluate the pathophysiology of this entity, such as myocardium fibrosis and cerebellar degeneration. In summary, our case demonstrates that cardiac disease can be the first manifestation of FA, with eventual diagnostic and prognostic implications. In addition, the autopsy provided findings of severe cardiomyopathy associated with FA.

Cardiomyopathy as the first manifestation of Friedreichs ataxia

We present the case of a female patient diagnosed in childhood with Friedreich Ataxia (FA). At the age of 6, she developed left congestive heart failure with cardiomyopathy, as evident on echocardiogram. Neurologic signs only appeared at age 7, including marked loss of muscle mass, gait instability, muscle clonus, and Babinski's signal. At age 27, she had a stroke and was hospitalized; a few days later, she had a cardiorespiratory arrest with asystole, leading to death. The autopsy disclosed severe cardiomyopathy and significant myocardial replacement with fibrosis; therefore, the cause of death was assumed to be heart failure. Compared to the literature, our case has some unique features, such as cardiac disease as the presenting manifestation instead of gait instability, which is the major initial sign in most FA cases. Since our patient was submitted to an autopsy, it was an opportunity to retrieve important data to confirm the diagnosis and to evaluate the pathophysiology of this entity, such as myocardium fibrosis and cerebellar degeneration. In summary, our case demonstrates that cardiac disease can be the first manifestation of FA, with eventual diagnostic and prognostic implications. In addition, the autopsy provided findings of severe cardiomyopathy associated with FA.

Sepsis complicated by brain abscess following ESWL of a caliceal kidney stone: a case report.

A 47-year old, Caucasian man underwent extracorporeal shock wave lithotripsy (ESWL) of a 14mm calcium stone in the right renal pelvis, without urinary tract obstruction or sepsis. 24 hours after ESWL septic shock occurred and the patient was admitted to the Intensive Care Unit (ICU). Escherichia coli emerged from the blood and urine culture. The patient developed acute renal failure and it was necessary to start a continuous renal replacement therapy (CRRT). Infection was successfully treated, patient recovered renal function and an improvement of general condition occurred. The patient was then discharged but three day later the patient returned to the hospital to seek treatment for left facial hemiparesis and hypotonia of his left arm. The brain computed tomography showed a wide abscesso (55x75mm) in the frontal right parietal region. A neurosurgical intervention was then performed and the culture of the drained material resulted positive for Escherichia coli. The guidelines of European and American Associations of Urology do not suggest a prophylactic antibiotic therapy for pre-ESWL (except in the presence of risk factors). The serious complication that occurred in the described low risk patient raises the question of whether routine culture and/or antibiotic prophylaxis, is appropriate.