RESUMEN
Here we report the association of giant aplasia cutis congenita in a newborn black male with Goltz syndrome. The cutis aplasia defect is extensive and circonscript at the vertex. The cerebral structures are visible through the lesions. In addition, the patient has a low birth weight, syndactyly, adactyly, cutaneous atrophy, and areas of hyperpigmentation on the legs and hypoplastic maxillary. We think that these signs are probably due to mosaic mutations in PORCN. We reviewed 18 cases of Goltz syndrome in 18 male neonates but none has aplasia cutis congenita. Such a combination of severe aplasia cutis congenita was not reported previously in Goltz syndrome.
Asunto(s)
Displasia Ectodérmica , Hipoplasia Dérmica Focal , Aciltransferasas , Displasia Ectodérmica/genética , Hipoplasia Dérmica Focal/genética , Humanos , Recién Nacido , Masculino , Proteínas de la Membrana/genética , Mutación , TogoRESUMEN
Ring chromosome 4 associates concomitant loss of the telomeric 4p and 4q regions and leads to variable clinical manifestations depending on the size of the deleted chromosomal material. We report on a patient with ring chromosome 4, showing the Wolf-Hirshhorn Syndrome (WHS) phenotype and minor symptoms of distal 4q deletion syndrome; the severity of the signs of WHS masks the symptomatology of the 4q deletion syndrome. The absence of seizures despite the absence of the specific 4p16.3 region with haploinsufficiency of the LETM1 gene is striking. The double telomeric deletion due to the ring chromosome formation confirmed by FISH has been rarely described in WHS.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 4/genética , Cromosomas en Anillo , Anomalías Múltiples/patología , Proteínas de Unión al Calcio/genética , Preescolar , Deleción Cromosómica , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/patología , Citogenética , Asesoramiento Genético , Humanos , Hibridación Fluorescente in Situ , Masculino , Proteínas de la Membrana/genética , Fenotipo , Síndrome , Telómero/genéticaRESUMEN
In one year 106 suspect cases of neo-natal infection were admitted to the pediatric ward of CHR in Kara. The principal elements of diagnosis (slow labor, premature membrane rupture, troubled or fetid amniotic fluid, other obstetrical maneuvers or neo-natal reanimation) were related to insufficient follow-up during pregnancy. Given the lack of means for microbiologic investigation we were unable to identify any etiologic agent apart for Plasmodium. However, therapeutic response indicated infections of bacterial origin. The high rates of infectious morbidity (87%) and lethality (36%) could be reduced by the continued training of traditional birth attendants and the application of a maternal child health policy as part of an integrated primary health care program.
Asunto(s)
Infecciones Bacterianas/epidemiología , Malaria/epidemiología , Factores de Edad , Infecciones Bacterianas/mortalidad , Infecciones Bacterianas/prevención & control , Femenino , Humanos , Recién Nacido , Malaria/mortalidad , Malaria/prevención & control , Masculino , Edad Materna , Morbilidad , Paridad , Atención Prenatal , Estaciones del Año , Factores Sexuales , Factores Socioeconómicos , Togo/epidemiologíaRESUMEN
To determine the impact of parasitic infection of the digestive and urinary tract in children living in a rural area of Togo, a retrospective study was conducted in a Pediatric Department of Kara, Togo. Results revealed that 35% of the 1610 children between the ages of 0 and 16 years had positive tests for parasites in stools or urine and that 117 had more than one parasite. Trichomonas intestinalis, Entamoeba histolytica, Schistosoma mansoni and Necator americanus accounted for 86.5% of the parasitic infections observed. Parasitic infection was observed during the neonatal period and its incidence increased in males up to the age of 12 years and during the rainy months of the year. Study of associated diseases indicated that 56% of children with parasites also had malaria and that 47% were anemic. Parasitic infection of the digestive and/or urinary tract was noted in 31.8% of children under the age of 5 years with malnutrition.
Asunto(s)
Parasitosis Intestinales/epidemiología , Parasitosis Intestinales/parasitología , Infecciones Urinarias/epidemiología , Infecciones Urinarias/parasitología , Adolescente , Distribución por Edad , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Vigilancia de la Población , Estudios Retrospectivos , Factores de Riesgo , Distribución por Sexo , Togo/epidemiologíaAsunto(s)
Genes Recesivos/genética , Microcefalia/genética , Fenotipo , Proteínas de Ciclo Celular , Niño , Preescolar , Trastornos de los Cromosomas/complicaciones , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 15/genética , Cromosomas Humanos Par 18/genética , Cromosomas Humanos Par 19/genética , Cromosomas Humanos Par 9/genética , Proteínas del Citoesqueleto , Cara/anomalías , Humanos , Masculino , Proteínas del Tejido Nervioso/genética , Linaje , Mutación Puntual/genéticaAsunto(s)
Displasia Ectodérmica/genética , Genes Recesivos , Adolescente , Adulto , Niño , Preescolar , Diagnóstico Diferencial , Displasia Ectodérmica/patología , Femenino , Humanos , Lactante , Masculino , Linaje , TogoRESUMEN
A new case of campomelic dysplasia is reported, probably the first in Africa, with several remarkable points which might suggest an hypothetic embryopathy.