Melissa Rosa Rizzotto

“Vaginal” bleeding in prepubertal age: A rare scaring riddle, a case of the urethral prolapse and review of the literature

The entities responsible for isolated vaginal bleeding are a broad spectrum of diseases. Vaginal bleeding in a prepubertal child is always treated as an alarming symptom both by parents and professionals. Most often, one of the first hypotheses is that a sexual abuse may be occurred and the clinical work up is oriented to explore it and eventually confirm or substantiante another diagnosis. Among the possible differential diagnosis urethral prolapse has to be considered. We report the case of a 6 years-old Caucasian girl referred to our Service for a mild vaginal bleeding and with the suspicion of sexual abuse, excluded after the confirmation of the presence of urethral prolapse. The clinical picture and workup are described and compared with a review of the international literature on the issue.

1q44-qter Trisomy:Clinical Report and Review of the Literature

Subtelomeric rearrangements are one of the main causes of multiple congenital anomalies and mental retardation, and they are detected in 5% of patients. We report on a 6.5-year-old boy with mental retardation, dysmorphic features, and behavioral problems, who revealed 1q44-qter trisomy and 22q13.3-qter monosomy due to a maternal cryptic translocation t(1;22). We compared the clinical and cytogenetic data of our patient with those of another case presenting a pure 22qter monosomy and with those of all 1qter trisomy cases reported in the international literature. To the best of our knowledge, the subterminal 1q trisomy found in the present case has been reported in only 12 patients to date (including five familial cases). This report aims to contribute to our understanding of 1q44-qter trisomy.