Hipocalcemia sintomática secundaria a raquitismo carencial. Presentación de dos casos clínicos / Symptomatic hypocalcaemia due to nutritional rickets. A presentation of two cases

Introducción: El raquitismo nutricional es una enfermedad considerada infrecuente en los países desarrollados, y el aumento en su incidencia se relaciona con el incremento de la inmigración en nuestro medio. Debido al incremento de esta patología en España, debemos aumentar nuestra sospecha diagnóstica y ser capaces de detectarla aún cuando se presente con síntomas poco usuales. Objetivo: Se presentan 2 casos clínicos de lactantes que debutaron con hipocalcemia sintomática y que fueron diagnosticados de raquitismo carencial. Caso 1. Lactante de 6 meses que presenta episodios de convulsiones tónicas e irritabilidad, sin otros hallazgos en la exploración física, constatándose una hipocalcemia secundaria a un raquitismo carencial. Caso 2. Lactante de 7 meses que realiza episodios de hipertonía generalizada, estridor inspiratorio e irritabilidad, con el resto de la exploración física normal, en el que también se constata hipocalcemia secundaria a raquitismo. Discusión: El concepto antiguo de que el raquitismo es una entidad rara en nuestro medio nos lleva muchas veces a descartar esta patología, retrasando el diagnóstico y el tratamiento. Debemos revisar nuestros conceptos y ser capaces de detectar síntomas frecuentes y también los poco usuales del raquitismo nutricional (AU)

Introduction: The nutritional rickets is considered an uncommon disease in developed countries, but the increase in its incidence appears to be related to the increase in the number of immigrants in these countries. Thus in Spain, we must increase our diagnostic suspicion of this disease and be able to detect it, even when it appears with unusual symptoms. We describe two clinical cases of breast-fed babies who presented with symptomatic hypocalcaemia and were diagnosed with rickets. Case 1. A six month-old breast-fed baby who had episodes of tonic seizures and irritability, with no other findings in the physical examination, and diagnosed with secondary hypocalcaemia due to nutritional rickets. Case 2. A seven month-old breast-fed baby who had generalised hypertonia, stridor and irritability, with a normal physical examination, and also diagnosed with hypocalcaemia secondary to rickets. Discussion: The old concept that rickets is a rare condition in our country means that we often tend to rule out this pathology, thus delaying the diagnosis and the treatment. We must review our concepts in order to be able to detect the common and also the unusual symptoms of nutritional rickets (AU)

[Symptomatic hypocalcaemia due to nutritional rickets. A presentation of two cases]. / Hipocalcemia sintomática secundaria a raquitismo carencial. Presentación de dos casos clínicos.

INTRODUCTION: The nutritional rickets is considered an uncommon disease in developed countries, but the increase in its incidence appears to be related to the increase in the number of immigrants in these countries. Thus in Spain, we must increase our diagnostic suspicion of this disease and be able to detect it, even when it appears with unusual symptoms. We describe two clinical cases of breast-fed babies who presented with symptomatic hypocalcaemia and were diagnosed with rickets. Case 1. A six month-old breast-fed baby who had episodes of tonic seizures and irritability, with no other findings in the physical examination, and diagnosed with secondary hypocalcaemia due to nutritional rickets. Case 2. A seven month-old breast-fed baby who had generalised hypertonia, stridor and irritability, with a normal physical examination, and also diagnosed with hypocalcaemia secondary to rickets. DISCUSSION: The old concept that rickets is a rare condition in our country means that we often tend to rule out this pathology, thus delaying the diagnosis and the treatment. We must review our concepts in order to be able to detect the common and also the unusual symptoms of nutritional rickets.

Epidemiología y hallazgos clínicos de la sepsis neonatal tardía en la unidad de cuidados intensivos pediátricos / Epidemiology and clinical findings in late-onset neonatal sepsis in the pediatric intensive care unit

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Influencia de la prueba de detección rápida del virus de la gripe en el manejo del niño febril en urgencias pediátricas / Influence of the rapid influenza virus detection test on the management of the febrile child in the paediatric emergency setting

Objetivos: Determinar las características clínicas de los pacientes diagnosticados de gripe con una prueba de detección rápida y constatar las diferencias de actuación en Urgencias con respecto a los pacientes con resultado negativo. Métodos: Revisión de las historias clínicas de aquellos pacientes a los que se solicitó una prueba de detección rápida para virus Influenza en aspirado nasofaríngeo. Resultados: Se solicitó el test en 142 pacientes (mediana de edad: 2,4 meses). Se obtuvo un resultado positivo en 63 (44,4%). La indicación principal fue fiebre asociada a clínica respiratoria (62,7%), seguida de fiebre sin foco (33,8%). De todos los pacientes con gripe sólo uno presentó un urocultivo positivo; los hemocultivos realizados y los cultivos de LCR fueron negativos. Al comparar los pacientes diagnosticados de gripe con aquéllos sin gripe no se detectaron diferencias en cuanto al sexo, edad, presencia de fiebre alta o de síntomas respiratorios. Por el contrario, los pacientes con gripe tenían menos dificultad respiratoria (1,6% vs 17,7%) y existía con más frecuencia ambiente epidémico en el domicilio (54% vs 31,6%) (p<0,01). A los pacientes con test de diagnóstico rápido positivo se les practicaron menos radiografías de tórax (30,2% vs 51,9%) (p<0,01), ingresaron menos (19% vs 57%) (p<0,001) y recibieron menos antibiótico (14,3% vs 40,5%) (p<0,001). En el subgrupo de 25 pacientes menores de 1 mes no se encontraron diferencias en ninguno de los parámetros estudiados. Conclusiones: Los pacientes con test positivo para Influenza presentan escasas características clínicas diferenciales. Disponer de técnicas de diagnóstico rápido para la gripe en Urgencias cambia el manejo diagnóstico- terapéutico en los niños de 1 a 36 meses con fiebre (AU)

Objectives: To determine the clinical characteristics of patients diagnosed with influenza with a rapid test and to study the different management in the Emergency Room with respect to the patients with a negative Influenza test. Methods: Retrospective revision of charts of those patients to whom a test of rapid detection for Influenza was ordered. Results: The test was ordered in 142 patients (median of age of 2.4 months). A positive result for the virus was obtained in 63 patients (44.4%). The main indication for the test was fever with respiratory symptoms (62.7%), followed of fever without source (33.8%). Only one patient with influenza had a positive urine culture; all the blood cultures and CSF cultures were negative. When comparing the patients with a positive test with those with a negative test we do not detect differences in sex, age, high fever or respiratory symptoms. On the other way, the patients with influenza had less respiratory distress (1.6% vs. 17.7%) and more epidemic context at home (54% vs. 31.6%) (<0.01). Patients with a positive test had a lower incidence of admission (19% vs. 57%), received less chest x-rays (30.2% vs. 51.9%) and less antibiotics (14.3% vs. 40.5%). In the sub-group of 25 patients younger than 1 month we did not find any differences. Conclusions: Patients with a positive Influenza test present small clinical differences with respect to those with a negative test. Rapid Influenza test in the Emergency setting modifies the classic management of febrile children aged 1 to 36 months (AU)

Propuesta de actuación ante la sospecha de la ingesta accidental de un paquete con droga (“Body packing”) / An intervention proposal in the presence of suspected accidental drug packet intake (body packing)

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Coincidence of Gaucher's disease due to a private mutation and Ph' positive chronic myeloid leukemia.

We report the case of a 46-year-old female with coexisting type I Gaucher's disease and chronic myeloid leukemia (CML). The diagnosis of Gaucher's disease was made in early childhood by bone marrow biopsy and was recently confirmed by biochemical demonstration of reduced leukocyte beta-glucocerebrosidase activity and the presence of Gaucher cells in a bone marrow aspirate. We analyzed the patient's genomic DNA for the underlying glucocerebrosidase mutations and have found homozygosity for a C-->T transition in cDNA nucleotide 593 (159 Pro-->Leu), presently an undescribed mutation. After initiation of replacement therapy with alglucerase we observed a significant increase of the platelet count in our patient. The diagnosis of CML was based on standard hematological parameters and the detection of the Philadelphia chromosome (Ph). With intermittent treatment with busulfan the patient has remained in chronic phase for nine years. The patient suffered from hepatosplenomegaly and thrombocytopenia, both of which can be caused by Gaucher's disease and CML. The aggravation of skeletal manifestations of Gaucher's disease, which occurred at the time of diagnosis of CML, could be due to increased production of leukocyte-derived glucocerebrosides that were not appropriately degraded because of the genetic beta-glucocerebrosidase deficiency.

[Experience with CT and adrenal venography in the diagnosis of adrenal disease with endocrine activity (author's transl)]. / Erfahrungen mit der Computertomographie und der Nebennierenphlebographie in der Diagnostik hormonaktiver Nebennierenprozesse.

Report of the result of CT and venography in 12 patients with suspected adrenal disease, venography being combined with selective blood sampling for hormone analysis. In one patient CT showed a 1.6 cm big pheochromocytome in the left adrenal gland, not demonstrated by venography, but proven by analysis of the blood sample. Both methods showed hyperplasia of both adrenals in one patient with Cushing Syndrome with elevated Cortisol levels found in the analysis of the blood smples. Of 3 patients with hyperaldosteronism, venography was able to demonstrate 2 Conn adenomas, not seen on CT; whereas CT showed the third 2 X 1.5 cm big Conn adenoma hidden in an enlarged adrenal gland. Hormone analysis was helpful in 2 of these cases, while in the third it was misleading. The authors believe that both methods should be employed to localise over adrenal disease with endocrine activity.

[Modern methods in localization of pheochromocytomas (author's transl)]. / Wertigkeit moderner Verfahren zur Lokalisation von Phäochromocytomen.

In six patients with adrenal pheochromocytoma the tumors were localized by ultrasonography, phlebography of the adrenal glands and by estimation of plasma catecholamines selectively obtained from the vena cava and the adrenal gland veins. All tumors were localized by selective catecholamine estimation, five by ultrasonography, and four by phlebography. The smallest pheochromocytoma of 1.5 g weight was only localized by selective catecholamine estimation but not by ultrasonography or phlebography. This tumor, however, had been visualized by computed tomography. To avoid diagnostic errors by selective catecholamine estimation, it is important to withdraw blood from the adrenal gland veins prior to the injection of any radiographic contrast media, since this may result in an extremely enhanced secretion of catecholamines from the adrenal medulla.

[Pathological and roentgenographic morphology in different stages of pulmonary shock (author's transl)]. / Pathologisch-anatomische und röntgen-morphologische Befunde zum phasenhaften Verlauf der Schocklunge.

Pulmonary shock syndrome may be better understood by comparing morphological and patho-physiological alterations in different stages. In the very early stage only fine structural tracer studies in experimental animals elicit morphological alterations of the microcirculation in the alveolar wall. These findings can be related to changes of ventilatory and blood-gas parameters. After a short interval microscopic and radiological features correspond. Interstitial pulmonary edema is the main syndrome of shock lung.

[Renal blood flow measurements by cine-angiodensitometry (author's transl)]. / Ergebnisse der kineangiodensitometrischen Nierendurchblutungsbestimmung

Angiodensitometry complements conventional renal angiography and provides important additional functional information without subjecting the patient to any further stress. Since blood flow through the renal arteries can be determined, it is an important method for the preoperative investigation of renal disease.