Perfi l de la enfermedad celíaca en los pacientes con síndrome de Down / Coeliac disease profi le in Down syndrome patients

Introducción. El colectivo de personas con síndrome de Down (SD) es uno de los más importantesdentro de los grupos de riesgo de enfermedad celíaca (EC). Nuestro objetivo esencontrar diferencias en el perfi l de la EC en este colectivo que permitan un manejomédico diferente.Pacientes y método. Estudio observacional, descriptivo y comparativo que incluyó a 81pacientes menores de 15 años controlados entre enero de 1999 y diciembre de 2008. Seestablecieron dos grupos; el primero incluyó a 28 niños con EC y SD y el segundo incluyóa 53 niños con EC y sin SD, ajustados por edad y sexo. Se analizaron retrospectivamentelos datos procedentes de las historias clínicas.Resultados. No se encontraron diferencias estadísticamente signifi cativas en cuanto a laedad de diagnóstico, la presentación clínica, la sintomatología al diagnóstico, la somatometría,los marcadores serológicos o los datos histológicos. Se observaron diferenciasestadísticamente signifi cativas en el grupo SD en relación con la ausencia de antecedentesfamiliares de EC y en la asociación con tiroiditis autoinmune. Este grupo inició menosfrecuentemente la lactancia materna y la introducción del gluten fue signifi cativamentemás tardía. El estudio genético mostró una importante frecuencia de heterodímeros DQ8en el grupo de pacientes con SD.Conclusiones. El perfi l clínico de la EC en el niño con SD parece similar al del niño sin estacondición. La distribución de los heterodímeros de riesgo en los individuos con SD denuestra serie difi ere de los datos publicados. Existen peculiaridades nutricionales en estecolectivo que podrían determinar la presencia de nuevos factores de riesgo que precipitenla aparición de una EC (AU)

Introduction and objective. Individuals with Down syndrome (DS) are a major risk groupfor coeliac disease (CD). The aim of this study is to fi nd differences in the CD profi le inthis group in order to take a different medical approach.Patients and methods. This observational, descriptive and comparative study included 81patients aged under 15 years monitored between January 1999 and December 2008.Patients were divided into two groups, a fi rst group including 28 children with CD and DS,and a second age- and sex-matched group of 53 children with CD and no DS. Retrospectivedata from medical records were analyzed.Results. There were no statistically signifi cant differences in age at diagnosis, clinicalpresentation, symptoms at diagnosis, body measurements, serological markers andhistological data. Members of the DS group were signifi cantly likelier to have no familyhistory of CD or an association with autoimmune thyroiditis. Breastfeeding was initiatedless frequently in the DS group, and the introduction of gluten was signifi cantly delayed.The genetic study showed a signifi cantly high frequency of the DQ8 heterodimer inpatients with SD.Conclusions. The clinical profi le of CD in children with DS appears to be similar to thatfor children without this condition. The risk heterodimer distribution in DS individuals inthis series differs from published data. Some nutritional features in this population couldentail new risk factors that might trigger the onset of CD (AU)

X-linked hydrocephalus: another two families with an L1 mutation.

X-linked hydrocephalus is a variable condition caused by mutations in the gene encoding for L1CAM. This gene is located at Xq28. Clinically the spectrum ranges from males with lethal congenital hydrocephalus to mild/moderate mental retardation and spastic paraplegia. Few carrier females show minimal signs of the syndrome. Although most cases are familial, de novo situations have been reported. We report two new families with the syndrome and a L1 mutation. Family 1 has two patients and family 2 a single patient. Clinical diagnosis in all three affected boys was beyond doubt. Prenatal testing through chorionic villus biopsy is possible only with a demonstrated L1 mutation. In lethal sporadic cases neuropathology is very important in order to evaluate for features of the syndrome. We stress the importance of further clinical reports including data on neuropathology and DNA analysis in order to further understand the mechanisms involved in this disorder.

[Epidemiologic study of accidental poisoning cases treated at a pediatric hospital]. / Estudio epidemiológico de las intoxicaciones accidentales atendidas en un hospital pediátrico.

A prospective study, by epidemiological survey, was carried out in the 447 children with acute poisoning attended in our hospital between February 1, 1990 and January 31, 1991. All data was processed to analyze the possible associations that would help to better understand the factors that take part in poisoning. We observed a predominance in male infants, with a greater incidence between two and three years of age, and the accidents occurred almost exclusively at home, mainly in the kitchen or bedroom. The child is often not adequately watched and the toxic elements are usually within easy access. There was neither a seasonal nor daily predominance. We noticed an hourly predominance with most accidents occurring between 12 a.m. and 4 p.m. Drugs are the most common agents, followed by household cleaning products. Morbidity was scarce and there was no mortality.

[Renal malformations in the authors' community. General considerations]. / Estudio sobre las malformaciones renales en nuestra área. Consideraciones generales.

The aim of this work was to study kidney malformations in infants. For this purpose, a study team was formed with two principal goals: to study the anatomic and histologic aspects, and then to correlate them to familial and clinical characteristics as well as to radiologic and echographic studies. We studied 129 cases of kidney malformations found during a study of 4,800 necropsies that had been carried out on infants, as well as of nephrectomized kidneys and biopsy samples. As a result of this study, we have compiled a mixed criteria (anatomic and clinical) classification of kidney malformations, complete with a glossary of equivalent terms to denominate different types of kidney malformations which have been called by a wide variety of nomenclatures in the bibliography.