Fontan-associated liver disease. / Enfermedad hepática crónica asociada a la cirugía de Fontan.

OBJECTIVE: To review the pathophysiology of Fontan-associated liver disease, its histologic changes, and its radiologic manifestations. CONCLUSIONS: Fontan-associated liver disease is the result of a set of structural and functional changes in the liver that occur secondary to hemodynamic changes brought about by Fontan surgery. The radiologic manifestations of Fontan-associated liver disease consist of changes in the size and shape of the liver, alterations in the signal intensity or pattern of enhancement, abnormalities in the vascular structures, and focal lesions, which include benign nodules with intense uptake in the arterial phase and hepatocellular carcinoma. Radiologists need to be familiar with this disease and its complications, because the number of patients who undergo Fontan surgery continues to increase, and these patients undergo an increasing number of imaging tests.

Oxalosis y livedo reticularis / Oxalosis and Livedo Reticularis

La oxalosis es una enfermedad derivada del depósito de oxalato cálcico fuera del aparato urinario. Los lugares de depósito extrarrenales más frecuentes incluyen el hueso, el miocardio, la retina, los vasos sanguíneos y la piel, lo que da lugar a las manifestaciones clínicas de esta enfermedad. En la piel las alteraciones pueden deberse a la afectación de los vasos sanguíneos, lo que da lugar a la aparición de cuadros de livedo reticularis, acrocianosis, úlceras y gangrena. Presentamos el caso de una mujer de 60 años con historia de litiasis renal recidivante, que le llevó a una insuficiencia renal terminal que requirió hemodiálisis y posteriormente diálisis peritoneal. La paciente desarrolló de forma súbita la aparición de elementos cutáneos de color rojo-violáceo, dolorosos a la palpación compatibles con livedo reticularis que evolucionaron a úlceras. La biopsia cutánea reveló una vasculopatía por oxalato.En este artículo se describen las características de este raro proceso, su diagnóstico diferencial con la calcifilaxis y las alternativas terapéuticas (AU)

Oxalosis is a disease caused by the deposition of calcium oxalate in extrarenal tissues, most commonly bone, myocardium, retina, blood vessels, and skin, causing the clinical manifestations of the disease. Involvement of the blood vessels of the skin can give rise to livedo reticularis, acrocyanosis, ulcers, and gangrene. We present the case of a 60-year-old woman with a history of recurrent renal lithiasis that had led to terminal renal failure requiring hemodialysis and, subsequently, peritoneal dialysis. The patient developed tender red-violaceous skin discoloration of sudden onset, consistent with livedo reticularis; the lesions progressed to form ulcers. Skin biopsy revealed oxalate vasculopathy. In this article we describe the characteristics of this rare disorder, its differentiation from calciphylaxis, and the therapeutic options (AU)

Oxalosis and livedo reticularis.

Oxalosis is a disease caused by the deposition of calcium oxalate in extrarenal tissues, most commonly bone, myocardium, retina, blood vessels, and skin, causing the clinical manifestations of the disease. Involvement of the blood vessels of the skin can give rise to livedo reticularis, acrocyanosis, ulcers, and gangrene. We present the case of a 60-year-old woman with a history of recurrent renal lithiasis that had led to terminal renal failure requiring hemodialysis and, subsequently, peritoneal dialysis. The patient developed tender red-violaceous skin discoloration of sudden onset, consistent with livedo reticularis; the lesions progressed to form ulcers. Skin biopsy revealed oxalate vasculopathy. In this article we describe the characteristics of this rare disorder, its differentiation from calciphylaxis, and the therapeutic options.

Oral inverted ductal papilloma associated with condyloma acuminata and HPV in an HIV+ patient.

Oral inverted ductal papillomas are rare benign tumours of minor salivary glands. A case that appeared in a middle-aged HIV+ woman simultaneous to two condyloma acuminata on the lips is described. The presence of human papilloma virus (HPV) 11 DNA was demonstrated in all the samples using polymerase chain reaction. HPV could play an important role in the aetiology and pathogenesis of these lesions in this patient.

[Cystinosis: an infrequent cause of distal myopathy]. / Cistinosis: una causa infrecuente de miopatía distal.

INTRODUCTION: Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. CASE REPORT: Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. CONCLUSIONS: Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication.

Cistinosis: una causa infrecuente de miopatía distal / Cystinosis: an infrequent cause of distal myopathy

Introducción. La cistinosis es una enfermedad hereditaria cuyas manifestaciones clínicas se producen por la acumulación de cristales de cistina en diversos tejidos. Entre sus complicaciones tardías se ha descrito una miopatía distal vacuolar. Caso clínico. Se trata de un varón de 20 años, diagnosticado de cistinosis a los 2 años, con grave afectación renal que requirió trasplante. De forma insidiosa desarrolló debilidad y atrofia de los músculos de las manos. Mediante estudios neurofisiológicos e histológicos se estableció el diagnóstico de miopatía distal vacuolar, y se objetivaron depósitos de cristales de cistina en la microscopía electrónica. Conclusiones. La cistinosis debe incluirse en el diagnóstico diferencial de las miopatías distales. Un tratamiento precoz con cisteamina podría evitar el desarrollo de esta complicación

Introduction. Cystinosis is a hereditary disease with clinical symptoms that are caused by the accumulation of cystine crystals in different tissues. Distal vacuolar myopathy has been reported as one of its later complications. Case report. Here, we present the case of a 20-year-old male diagnosed with cystinosis at the age of 2 years, with severe renal involvement that required a transplant. The patient gradually developed weakness and atrophy of the muscles in his hands. Neurophysiological and histological studies enabled a diagnosis of distal vacuolar myopathy to be established, and electron microscopy revealed deposits of cystine crystals. Conclusions. Cystinosis must be included within the differential diagnosis of distal myopathies. Timely treatment with cysteamine could prevent the development of this complication

[Uremic myopathy]. / Miopatía urémica.

INTRODUCTION: The neurological features of chronic renal failure are very varied. Uremic myopathy is a controversial condition. In most cases it is related to the secondary hyperparathyroidism which these patients develop, and its characteristics are superimposed on their osteomalacia myopathy. CLINICAL CASES AND CONCLUSIONS: We report two patients with terminal chronic renal failure on hemodialysis who complained on difficulty with walking. The clinical findings, laboratory and neurophysiological investigations and the histopathological report of the muscle biopsy were similar to those of osteomalacia myopathy. The muscle weakness of patients with terminal chronic renal failure is related to many factors. The most important of these is the secondary hyperparathyroidism which leads to osteomalacia myopathy. On muscle biopsy there was isolated fibre necrosis of both types 1 and 2 (case 1) and of type 2 alone (case 2), which is considered to be the commonest finding. Although treatment with high doses of vitamin D3, or its hydroxylated metabolites, has been recommended, it was not effective in our patients.

[Jejunal obstruction by metastasis of a renal adenocarcinoma]. / Obstrucción yeyunal por metástasis de adenocarcinoma renal.

OBJECTIVE: To describe a case of jejunal obstruction due to metastatic renal adenocarcinoma. METHODS: A 66-year-old male who underwent nephrectomy 23 months earlier developed jejunal obstruction due to metastasis of the renal adenocarcinoma. The literature is reviewed and the uncommon form and site of presentation of this case are underscored and the different treatments are discussed.

[Mesenteric panniculitis: a case of acute and fatal presentation]. / Paniculitis mesentérica: un caso de presentación aguda y fatal?

Mesenteric panniculitis is a rare process in which there is an inflammation of the mesenteric adipose tissue due to unknown causes and mechanisms. It evolves with abdominal pain and/or mass, among other symptoms, generally with a chronic and bening course. The concomitant tests are generally non-specific, the diagnosis being anatompathological. We present the case of an old woman who died hours after starting an episode of abdominal pain. The autopsy showed the presence of mesenteric panniculitis. The sudden onset of the clinical signs, without other justifying cause than the panniculitis itself, suggests that this must be considered in the differential diagnosis of acute abdominal pain. In addition, the absence of other morphological findings which could suggest a fatal cause make us to consider the relationship between this and the panniculitis.