ABSTRACT
Triple X syndrome is a relatively common sex chromosomal abnormality occurring in 0,1% of live-born female infants. Most of these infants have a normal phenotype and only a few cases with 47, XXX karyotype have congenital malformations. We report three cases of triple X syndrome that were diagnosed prenatally by genetic amniocentesis for advanced maternal age and have been observed from birth to age of 3 to 12 years. A description of their growth and development is presented. The birth weight was normal in all patients and one of them had facial dysmorphism with right microphtalmia and auricular septal defect. During the first 2 years of life, the neuromotor development of these infants was not distinguishable from chromosomally normal children. By 3 years of age, two patients have a moderate developmental delay in speech and language. One girl 12-year-old had normal schooling. The diagnosis of the triple X syndrome can be never made because clinical demonstrations are not rather important to arouse the demand of a karyotype. Prenatal diagnosis is often made in front of the advanced maternal age. Expectant parents must be counseled as to the significance of this 47, XXX karyotype and prognostic information must be given.
Subject(s)
Chromosomes, Human, X/genetics , Prenatal Diagnosis , Sex Chromosome Aberrations , Child , Developmental Disabilities/genetics , Female , Humans , Karyotyping , Maternal Age , PregnancyABSTRACT
A case of rupture of the urinary tract related to lithiasis of the pelvic ureter is reported. Outcome was favorable after percutaneous drainage of the urinoma and removal of the stone using a Dormia catheter. Clinical diagnosis was readily established on the patient's history and on ultrasound and intravenous urogram findings.
Subject(s)
Kidney Pelvis/pathology , Ureteral Calculi/complications , Dilatation, Pathologic/etiology , Humans , Kidney Calices/pathology , Kidney Diseases/etiology , Male , Middle Aged , Rupture, SpontaneousABSTRACT
The authors report the case of a 20 year old patient in whom the clinical findings combined with the radiological signs, suggested the diagnosis of renal cancer. The histological findings after nephrectomy established the diagnosis of xanthogranulomatous pyelonephritis. This disease may rarely give the appearance of a renal tumor. This points out the importance of identifying this lesion in preoperative staging to avoid carcinologic surgery and all of its difficulties.
