RESUMEN
Clinical and morphologic findings in 3 sibs with congenital cutis laxa are presented. A severe urinary malformation in one affected infant is reported in detail. Elevated serum copper concentrations were observed in 2 of the sibs and in the healthy mother. However, the 64Cu uptake of fibroblast cells from tissue culture was not increased. Ultrastructural pathologic findings from skin biopsies have been studied and compared at birth and at age 2 years. The lack of junction between the 2 elastic fiber components was similar. Further evidence for clinical heterogeneity of this disease is stressed.
Asunto(s)
Cutis Laxo/genética , Enfisema/genética , Cutis Laxo/complicaciones , Cutis Laxo/congénito , Enfisema/complicaciones , Enfisema/congénito , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Linaje , Piel/ultraestructura , Enfermedades Urológicas/complicaciones , Enfermedades Urológicas/genéticaRESUMEN
We present the results of a collaborative study on the association of congenital muscular dystrophy with central nervous system anomalies revealed by CT scan investigation of 10 patients. In seven children, an abnormal hypodensity of the cerebral white matter is found; in four of these patients, this radiological anomaly is either isolated, or associated with a moderate intellectual impairment; in one case, severe mental retardation and ocular changes had occurred; in the other two cases, the muscular disease was progressing slowly, in association with microcephaly, epilepsy, and moderate mental retardation. Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia-muscular dystrophy syndromes, and the third patient of Fukuyama's congenital muscular dystrophy. These observations are discussed and compared with those reported in the literature. The authors emphasize the need to investigate possible cerebral CT scan anomalies in congenital muscular dystrophies, and to look for muscular changes in some prenatal encephalopathies.
Asunto(s)
Encéfalo/anomalías , Distrofias Musculares/congénito , Tomografía Computarizada por Rayos X , Atrofia , Biopsia , Encéfalo/patología , Niño , Anomalías del Ojo , Femenino , Humanos , Discapacidad Intelectual/congénito , Discapacidad Intelectual/patología , Masculino , Músculos/patología , Distrofias Musculares/patologíaRESUMEN
Two different clinical subtypes were previously identified within hereditary sensory autonomic neuropathy (HSAN) type II: a stable congenital form and a progressive one. This paper discusses two clinicopathologic cases of nonprogressive HSAN type II with morphometric correlations. In addition, a retrospective literature search was carried out to locate other cases where an accurate histologic examination, including ultrastructural features, was available in order to relate clinical and pathologic aspects of the disease. The combined data support the individualization of this neuropathic form as a homogeneous disease, as has been suggested during the last century and underline the clinical importance of this concept for the prognosis and investigation of sensory, auditory, autonomic, and motor functions in children with sensory neuropathies.
Asunto(s)
Neuropatías Hereditarias Sensoriales y Autónomas/diagnóstico , Músculos/patología , Biopsia , Preescolar , Electrofisiología , Femenino , Trastornos de la Audición/etiología , Neuropatías Hereditarias Sensoriales y Autónomas/complicaciones , Neuropatías Hereditarias Sensoriales y Autónomas/fisiopatología , Humanos , Lactante , Masculino , Destreza Motora , Vaina de Mielina/ultraestructuraAsunto(s)
Alopurinol/uso terapéutico , Músculos/fisiopatología , Distrofias Musculares/fisiopatología , Nucleótidos de Purina/biosíntesis , Adenina/sangre , Transporte Biológico , Creatina Quinasa/sangre , Membrana Eritrocítica/metabolismo , Femenino , Humanos , Masculino , Distrofias Musculares/tratamiento farmacológico , Ácido Úrico/sangreAsunto(s)
Inmunoglobulinas/análisis , Síndrome de Lesch-Nyhan/inmunología , Activación de Linfocitos , Pentosiltransferasa/sangre , Adolescente , Niño , Replicación del ADN , Eritrocitos/enzimología , Humanos , Síndrome de Lesch-Nyhan/enzimología , Linfocitos/metabolismo , Mitógenos de Phytolacca americana , Proteína Estafilocócica A , Timidina/metabolismoAsunto(s)
Músculos/enzimología , Distrofias Musculares/enzimología , Purinas/metabolismo , AMP Desaminasa/metabolismo , Adenina Fosforribosiltransferasa/metabolismo , Adenosina Desaminasa/metabolismo , Adenosina Quinasa/metabolismo , Adenilato Quinasa/metabolismo , Adolescente , Adulto , Anciano , Biopsia , Niño , Humanos , Hipoxantina Fosforribosiltransferasa/metabolismo , Masculino , Persona de Mediana Edad , Valores de ReferenciaAsunto(s)
Disrafia Espinal , Malformación de Arnold-Chiari/complicaciones , Niño , Epilepsia/complicaciones , Femenino , Humanos , Hidrocefalia/complicaciones , Recién Nacido , Meningomielocele/cirugía , Embarazo , Espina Bífida Oculta/cirugía , Disrafia Espinal/complicaciones , Disrafia Espinal/diagnóstico , Disrafia Espinal/terapiaRESUMEN
Eighty infants with cerebral palsy including monoplegia, diplegia, quadriplegia, hemiplegia, choreoathetosis, hypotonia with mental retardation and cerebellar ataxia, underwent Computed Cranial Tomography (CCT). Specific morphological anomalies such as ventricular dilatation with or without diverticulum, cortical atrophy, low density areas and calcifications, occur with varying frequency in each clinical groups. There exists a good correlation between the pathogenesis of the lesions, clinical data and CCT pictures.
Asunto(s)
Parálisis Cerebral/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Atetosis/diagnóstico por imagen , Atrofia , Encefalopatías/diagnóstico por imagen , Ataxia Cerebelosa/diagnóstico por imagen , Corteza Cerebral , Niño , Preescolar , Corea/diagnóstico por imagen , Femenino , Hemiplejía/diagnóstico por imagen , Humanos , Discapacidad Intelectual/diagnóstico por imagen , Masculino , Hipotonía Muscular/diagnóstico por imagen , Espasticidad Muscular/diagnóstico por imagen , Paraplejía/diagnóstico por imagen , Cuadriplejía/diagnóstico por imagen , SíndromeRESUMEN
The search for HLA association in spina bifida is particularly interesting since this condition can be associated with the effect of the T locus in mice. Gene and haplotype frequencies in 32 unrelated patients suffering from spina bifida were studied. Patients and families were examined clinically and radiologically. A high frequency of spina bifida occulta and other vertebral abnormalities was found suggesting genetic determinism but no evidence of linkage with HLA genes or haplotypes was found.
Asunto(s)
Genes , Antígenos HLA/genética , Espina Bífida Oculta/genética , Adolescente , Niño , Preescolar , Femenino , Ligamiento Genético , Genotipo , Humanos , Lactante , Masculino , FenotipoRESUMEN
Three patients affected with the Lesch-Nyhan syndrome were found to have normal levels of immunoglobulins, normal numbers of circulating B and T cells and normal IgG secretion in vitro in response to polyclonal activators. However, when cultures were performed in the absence of a bicarbonate buffer system, the proliferative response to several T cell stimulants (phytohaemagglutinin, concanavalin A and streptokinase-streptodornase) was impaired in Lesch-Nyhan cells as judged from the incorporation of labelled thymidine, uridine and leucine. This situation could be abolished by incubation in a 5% CO2 atmosphere and even reversed by supplementation of bicarbonate to the culture medium. Blocking the de novo purine synthesis by Methotrexate resulted in a more pronounced inhibition of the mitogenic response in Lesch-Nyhan lymphocytes than in normal cells. The differences in proliferative response between normal and Lesch-Nyhan lymphocytes with regard to culture conditions point to the critical role of the de novo pathway in lymphocyte stimulation.
Asunto(s)
Bicarbonatos/farmacología , Síndrome de Lesch-Nyhan/inmunología , Activación de Linfocitos/efectos de los fármacos , Adolescente , Adulto , Linfocitos B/inmunología , Niño , Humanos , Linfocitos/efectos de los fármacos , Metotrexato/farmacología , Mitógenos/farmacología , Estreptodornasa y Estreptoquinasa/farmacología , Linfocitos T/inmunologíaRESUMEN
The search for HLA association in spina bifida is particularly interesting since this condition can be associated with the effects of the T locus in mice. Gene and haplotype frequencies in 32 unrelated patients suffering from spina bifida were studied. Gene frequency of HLA-B5 and haplotype frequency of A2, B5 were increased without reaching signification levels. Fourteen families were examined clinically and radiologically. A high frequency of spina bifida occulta and other vertebral abnormalities was found without evidence of linkage with HLA haplotypes.