[Vasa praevia rupture in velamentous insertion of the umbilical cord: the importance of prenatal diagnosis]. / Rotura de vasa previa en una inserción velamentosa de cordón umbilical. Importancia del diagnóstico prenatal.

Vasa praevia is a rare condition in which the foetal blood vessels cross the foetal membranes of the lower segment of the uterus below the presenting part. It has a high foetal mortality due to foetal exsanguination resulting from foetal vessels tearing when the membranes rupture. Prenatal diagnosis can reduce or even prevent foetal mortality, but it requires a high level of suspicion. For this reason, pregnant women with risk factors of vasa praevia should be examined using transvaginal ultrasound in combination with colour Doppler, and if the diagnosis is made, elective delivery by caesarean and aggressive resuscitation of the new born is indicated.

[Peutz-Jeghers syndrome]. / Síndrome de Peutz-Jeghers.

Peutz-Jeghers syndrome is an inherited disorder which usually debuts during childhood. It is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. Numerous reports indicate a high incidence of gastrointestinal and extraintestinal cancer in these patients, their appearance at a young age, as well as its association with ovarian and testicular tumors. An aggressive approach of these patients seems to be necessary. We report the case of two brothers suffering from Peutz-Jeghers syndrome whose father and grandfather died as a consequence of the progression of an intestinal cancer related to the syndrome.

[Evaluation of gonadal function in post-pubertal patients after bone marrow transplantation during childhood objective]. / Evaluación de la función gonadal en pacientes pospuberales sometidos a trasplante de médula ósea durante la infancia.

AIM: To evaluate the effect of bone marrow transplantation during childhood on gonadal function in postpubertal patients. METHODS: We studied 19 post-pubertal patients (13 males, 6 females) aged 13-20 years, 2-9 years after bone marrow transplantation for diverse diseases. Fifteen patients had received multi-agent cytotoxic treatment and 6 had received cranial irradiation prior to transplantation; eleven patients received total body irradiation. Gonadal function was assessed by typifying Tanner's stages of pubertal development and by measuring testicular volume in males (Prader's orchidometer). Serum concentrations of luteinizing hormone, follicle-stimulating hormone, testosterone and 17-beta-estradiol were also measured. RESULTS: Twelve patients were found to have gonadal dysfunction of gonadal origin. Of these, three had not received total body irradiation. CONCLUSIONS: The results obtained show that gonadal dysfunction is frequent in patients treated with bone marrow transplantation. This damage can be attributed to both chemo- and radiotherapy but a synergistic effect between these treatments could not be excluded. The prepubertal status of patients at the moment of transplantation was not a protective factor against chemo- or radiotherapy-induced gonadal damage in our series.

[Intravascular hemolysis following percutaneous occlusion of the ductus arteriosus]. / Hemólisis intravascular tras el cierre percutáneo del conducto arterioso.

Transcatheter occlusion of patent ductus arteriosus has become a safe and successful technique, but it's not free of complications. We present the case of a two-year-old boy who underwent routine transcatheter closure of his patent ductus arteriosus, using a "coil" device. Twenty hours later he developed severe persistent hemolysis in association with residual ductal flow. Patient's clinical situation became stable when the device was removed. Pulmonary embolization of the device and hemolysis are the main complications of percutaneous closure of the patent ductus arteriosus. Hemolysis occurs rarely (0.5%) and is always associated with the presence of residual ductal flow. Several approaches to this problem have been described. Mild cases may require no intervention; however, when severe hemolysis is present, removal of the device may be needed, proceeding with surgical repair of the patent ductus arteriosus.

[Efficacy of various therapeutic measures in metabolic hyperammonemia]. / Eficacia de las diversas medidas terapéuticas en la hiperamoniemia de origen metabólico.

OBJECTIVE: The aims of this work were to describe the therapeutic options available for severe hyperammonemia in children when ammonium levels are so high that the child's neurologic future or even their life is compromised. In addition, a comparison of the relative efficacy of each therapeutic method is made. PATIENTS AND METHODS: We present six cases, five of which suffered from inborn errors of metabolism and a six which presented with Reye's syndrome, all of whom presented or developed hyperammonemic coma. Their initial ammonium levels fluctuated between 300 and more than 2000 micrograms per deciliter. The treatment was made with exchange transfusion (ET), ET and peritoneal dialysis (DP) together or hemodialysis (HD). RESULTS: Peritoneal dialysis was the method that obtained the greatest reduction in plasma ammonium levels. However, the quickest reduction was observed with ET and HD. There were no significant complications with any of the methods except for hemodynamic deterioration in one patient during HD. CONCLUSIONS: We believe that HD is the treatment of choice for these patients because it is able to obtain a quick and lasting clearance of plasma ammonium. However, this method is not always available and has not been used very often in small babies. In these cases, the combined use of ET and DP can be very useful.

[Acute intermittent familial ataxia: report of a new family]. / Ataxia aguda intermitente familiar. Description de una nueva familia.

INTRODUCTION. Acute intermittent familial ataxia is a rare disorder with autosomal dominant inheritance and unknown etiology which usually in childhood or adolescence. CASE 1. A 33-years-old woman who suffered from giddiness, gait ataxia, dysarthria and somnolence episodes. These episodes lasted between 4 and 72 hours. They generally occurred within a framework of emotional or physical stress. The following tests were performed: hemogram and biochemistry, blood and urine toxicology, immunological tests, cerebrospinal-fluid study, electrocardiogram, electroencephalogram, trunk and visual evocated potentials, cerebral computed tomography and cerebral magnetic resonance imaging. None of them gave significative results. CASE 2. A 12-years-old boy, son of the previous woman, who suffered from somnolence, gait ataxia and dysarthria with acute beginning. The same tests than in the above case were performed together with metabolic studies. There were no pathological findings in this case, either. The symptoms disappeared gradually in 6 days. His familial history led to a diagnosis of acute intermittent familial ataxia. A year later he suffered from a similar disorder and he was immediately treated with acetazolamide. The symptoms disappeared in 2 hours. CONCLUSIONS. Acute intermittent familial ataxia is a disorder of difficult identification. It can be easily confused with other periodical ones, because its diagnosis has to be based on the clinical findings and on the familial history. For this purpose, a therapeutic test with acetazolamide can be useful, since in most cases a spectacular clinical improvement has been observed.