ABSTRACT
El síndrome de Peutz-Jeghers es una rara enfermedad hereditaria, aunque se ha descrito hasta un 20% de casos esporádicos. Clínicamente se diagnostica por la asociación de una pigmentación mucocutánea facial y la presencia de pólipos intestinales de tipo hamartomatosos. Entre los problemas asociados se describen las intervenciones quirúrgicas secundarias a los pólipos intestinales, así como la alta incidencia de desarrollo de tumores que presentan en la edad adulta. Se presenta un caso de una niña de 10 años de edad, e historia de anemia rebelde al tratamiento, sin otros síntomas clínicos. El estudio demostró la presencia de pigmentación en la mucosa oral, así como la existencia de múltiples pólipos en aparato digestivo (estómago e intestino delgado). El estudio histológico de la biopsia intestinal confirmó la existencia de lesiones hamartomatosas. No existen antecedentes familiares conocidos de pigmentación o pólipos intestinales. En su evolución presentó un cuadro de invaginación intestinal que requirió practicar una resección limitada del intestino delgado (AU)
Subject(s)
Child , Female , Humans , Peutz-Jeghers SyndromeABSTRACT
Peutz-Jeghers syndrome is a rare hereditary disease, although in about 20 % of patients there is no known family history. Its clinical hallmarks are facial mucocutaneous pigmentation and diffuse gastrointestinal polyposis of hamartomatous origin. The major difficulty in the management of this disease lies in the complications of surgery for small bowel polyposis and the high incidence of tumors presented by these patients as adults. We present the case of a 10-year-old girl with treatment-resistant anemia and no other clinical symptoms. Further investigation revealed pigmentation in the oral mucosa and polyposis in the stomach and small intestine. Hamartomatous lesions were confirmed by histological study of intestinal biopsy. No familial antecedents of pigmentation or intestinal polyps were found. During evolution the patient required subtotal resection of the small intestine due to invagination.
Subject(s)
Peutz-Jeghers Syndrome/diagnosis , Child , Female , Humans , Peutz-Jeghers Syndrome/surgeryABSTRACT
Congenital factor XIII deficiency is a rare hereditary disorder characterized by a marked tendency to bleeding. We describe a male newborn with inherited factor XIII deficiency. The patient was from a family without known antecedents and presented cephalohematoma as the first manifestation of the disease. This presentation is very unusual. The patient was diagnosed during the neonatal period and was successfully treated with substitution therapy. Early diagnosis and treatment of this disorder are important to prevent complications of severe bleeding.
Subject(s)
Factor XIII Deficiency/congenital , Factor XIII Deficiency/complications , Intracranial Hemorrhages/etiology , Factor XIII Deficiency/diagnosis , Humans , Infant, Newborn , MaleABSTRACT
El déficit congénito de factor XIII es un trastorno hereditario muy poco frecuente caracterizado por una tendencia a las hemorragias graves. Presentamos el caso de un recién nacido afecto de un déficit hereditario, sin antecedentes familiares conocidos, que presentó un cefalohematoma como primera manifestación de la enfermedad, hecho muy poco habitual. Se diagnosticó en el período neonatal y se instauró tratamiento sustitutivo con buenos resultados. Se insiste en la necesidad de un diagnóstico y tratamiento precoz que prevenga la aparición de complicaciones hemorrágicas graves (AU)
Subject(s)
Male , Infant, Newborn , Humans , Intracranial Hemorrhages , Factor XIII DeficiencyABSTRACT
El Síndrome de Waardenburg es un cuadro con herencia autosómica dominante y expresión clínica variable, poco frecuente en la población general, pero que en algunas series se ha involucrado en hasta un 2 por ciento de las hipoacusias congénitas severas. En estos pacientes se aprecian, además de la hipoacusia, diversos rasgos dismórficos, distinguiéndose cuatro tipos del síndrome, en función de la presencia o ausencia de distopia cantorum, malformaciones esqueléticas y enfermedad de Hirchsprung. Se han descrito diversas alteraciones genéticas frecuentes en cada uno de los tipos de esta enfermedad. Presentamos dos familias, con un total de 21 pacientes, siete de ellos en edad pediátrica afectos de esta enfermedad. En conclusión, hay que destacar la importancia del conocimiento de los distintos rasgos dismórficos de este síndrome, que nos pueden llevar a la detección precoz de una posible hipoacusia de percepción que permita la instauración de terapias enfocadas a una adquisición del lenguaje lo más óptima posible en estos pacientes (AU)
Subject(s)
Adolescent , Female , Child, Preschool , Male , Child , Humans , Waardenburg Syndrome/genetics , Waardenburg Syndrome/diagnosis , Pedigree , Hearing Loss/genetics , Hearing Loss/diagnosisSubject(s)
Sepsis/diagnosis , Streptococcal Infections/diagnosis , Streptococcus agalactiae , Female , Humans , Infant, Newborn , Recurrence , Time FactorsABSTRACT
OBJECTIVE: The objective of the present study was to evaluate the conformity between the pathological prenatal ultrasound findings of the kidney and urinary tract during fetal life and in the neonatal period. PATIENTS AND METHODS: In a period of four years (1991-1994) 14,938 pregnant woman were controlled in our hospital by performing at least one prenatal ultrasound during the third trimester of their pregnancy to detect alterations of the kidneys and fetal urinary tract. In those newborns with a positive fetal ultrasound, a renal ultrasonography study was performed in the first week of life. RESULTS: Anomalous fetal images at the level of the kidney and/or urinary tract were found in 71 cases (0.5% of all fetuses studied), with sonography during the neonatal period confirming 46.5% of them. The most common fetal images found were pyelocaliceal dilatation in 58 cases (82% of the total) and amongst these mild cases (with renal pelvis diameter less than 10 mm) with 39 cases (55%) none of which malformation of the urinary tract could be diagnosed. In the extreme opposite, the images of severe pyelocaliceal dilatation (pelvic diameter greater than 15 mm), renal cystic images and images of agenesis or renal hypoplasia were interrelated very well (100%, 75% and 100%, respectively) with the neonatal ultrasound findings. CONCLUSIONS: We want to indicate the great help that fetal ultrasound provides in the precocious diagnosis of nephrourological malformations in the newborn.
Subject(s)
Kidney Diseases/diagnostic imaging , Kidney/abnormalities , Kidney/diagnostic imaging , Ultrasonography, Prenatal , Female , Humans , Infant, Newborn , Pregnancy , Retrospective StudiesABSTRACT
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.
Subject(s)
Kidney/abnormalities , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Kidney Diseases/epidemiology , Kidney Diseases/genetics , Kidney Diseases, Cystic/epidemiology , Polycystic Kidney Diseases/epidemiology , Spain/epidemiologySubject(s)
Incontinentia Pigmenti/diagnosis , Female , Humans , Incontinentia Pigmenti/pathology , Infant, NewbornSubject(s)
Adenomatous Polyposis Coli/genetics , Brain Neoplasms/genetics , Cerebral Cortex , Glioblastoma/genetics , Adolescent , Child , Female , Humans , Male , Spain , SyndromeABSTRACT
Authors studied nine cases of Reye's syndrome, seen over a period of five years. Their ages ranged from 45 days to 3 6/12 years, eight being less than a year old. Mortality rate was 55% and two of the four surviving children presented serious neurological sequelas. In all cases liver pathology was studied by percutaneous biopsy and/or necropsy. Clinical, analitical and anatomopathological findings were similar to those usually described in this syndrome. Medical literature was revised as to etiology and pathology, noting specially the tendency of this syndrome to present in groups, its possible relationship to viral epidemics and the inconsistency of the results of certain therapeutic measures widely used until now. The possible relationship between Reye's syndrome and the usual infant vaccinations, as they found in two cases, as well as the convenience of hepatic studies in the event of postvaccinal encephalopathy is suggested.
