RESUMEN
We present a case of disseminated congenital toxoplasmosis in a newborn born to a mother who had been immunized against toxoplasmosis before conception. The mother was reinfected, likely by ingestion of imported raw horse meat during pregnancy. This clinical presentation is exceptional in France and raised the possibility of infection by a highly virulent Toxoplasma strain. The strain responsible was isolated from the peripheral blood of the newborn, and when genotyped with microsatellite markers, it exhibited an atypical genotype, one which is very uncommon in Europe but had been described in South America. We tested the hypothesis of a reinfection with a different genotype by using an experimental mouse model, which confirmed that acquired immunity against European Toxoplasma strains may not protect against reinfection by atypical strains acquired during travel outside Europe or by eating imported meat.
Asunto(s)
Complicaciones Parasitarias del Embarazo , Toxoplasma/clasificación , Toxoplasma/patogenicidad , Toxoplasmosis Congénita , Toxoplasmosis , Adulto , Animales , ADN Protozoario/análisis , Modelos Animales de Enfermedad , Femenino , Genotipo , Humanos , Inmunización , Recién Nacido , Ratones , Embarazo , Complicaciones Parasitarias del Embarazo/diagnóstico , Complicaciones Parasitarias del Embarazo/parasitología , Complicaciones Parasitarias del Embarazo/prevención & control , Recurrencia , Toxoplasma/genética , Toxoplasma/aislamiento & purificación , Toxoplasmosis/diagnóstico , Toxoplasmosis/parasitología , Toxoplasmosis/prevención & control , Toxoplasmosis Animal/parasitología , Toxoplasmosis Animal/patología , Toxoplasmosis Congénita/diagnóstico , Toxoplasmosis Congénita/parasitologíaRESUMEN
Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the approximately 60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3-month-old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11-154H4 + , TBX1-). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q.
Asunto(s)
Aneuploidia , Cromosomas Humanos Par 22/genética , Coloboma/genética , Anomalías Múltiples/genética , Adulto , Femenino , Retardo del Crecimiento Fetal/genética , Cardiopatías Congénitas/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Fenotipo , Embarazo , Venas Pulmonares/anomalías , SíndromeRESUMEN
We report on the case of dizygotic twin boys, born prematurely to an asymptomatic mother. Bilateral periventricular heterotopias with enlarged ventricles were discovered at birth in both twins. One of the twins died prematurely of bronchopulmonary complications, and was shown to have several neuropathological anomalies (microgyria, thin corpus callosum, and reduced white matter). The surviving twin had mental retardation, without epilepsy. MRI of the mother showed asymptomatic periventricular heterotopias without ventricular enlargement. She had two affected daughters also with asymptomatic periventricular heterotopias. A point mutation in the last coding exon 48 of the Filamin A (FLNA) gene (7922c > t) was discovered on sequencing and segregated with the affected individuals. This family has a classical X-linked dominant BPNH pathology, with greater severity in males than females. The location of the FLNA mutation is discussed in light of the neuropathological anomalies and mental retardation in male patients.
Asunto(s)
Encefalopatías/genética , Ventrículos Cerebrales , Coristoma/genética , Proteínas Contráctiles/genética , Proteínas de Microfilamentos/genética , Mutación Puntual , Secuencia de Aminoácidos , Encefalopatías/complicaciones , Encefalopatías/patología , Coristoma/complicaciones , Coristoma/patología , Salud de la Familia , Resultado Fatal , Femenino , Filaminas , Genes Dominantes/genética , Enfermedades Genéticas Ligadas al Cromosoma X/complicaciones , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Humanos , Lactante , Enfermedades Pulmonares/complicaciones , Masculino , Datos de Secuencia Molecular , Linaje , Homología de Secuencia de Aminoácido , Gemelos Dicigóticos/genéticaRESUMEN
The main features of trisomy 9 syndrome in mosaic and non-mosaic forms have been thoroughly described. Characteristic traits are low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal hands and feet, genital abnormalities, and early death. We report a case of mosaic trisomy 9 with holoprosencephaly (HPE). The propositi was born at 37 weeks, with intra-uterine growth retardation, hypotelorism and single nostril, ventricular septal defect, anterior placement of anus, clenched hands with thumb adduction and ulnar deviation. Facial anomalies characteristic of trisomy 9 included deeply set eyes and short palpebral fissures, flat face with maxillary hypoplasia, small mouth, and low-set posteriorly angulated ears. Cytogenetic analysis showed mosaic trisomy 9 with 17% trisomic cells. Pathology confirmed lobar HPE. In literature, isolated arrhinia, related to the HPE spectrum, was reported in one case of mosaic trisomy 9. Our case raises the question of the causative role of trisomy 9 in full blown HPE.
