Vaginal bleeding in pre-pubertal girls is uncommon and can often be confused with the bleeding from the genital or urinary tract or from the anus. The paper reports the case of a 6-year-old girl with pollakiuria and “dark urine” without pain, which lasted for ten days. On the assumption of macrohematuria, initial evaluations to exclude nephro-urological causes of bleeding were performed and resulted negative. Finally, uroCT showed the presence of inhomogeneous material inside the vaginal lumen. Vaginoscopy enabled to ascertain the vaginal origin of the bleeding and to remove the foreign body: abundant toilet paper! Foreign bodies are the main cause of vaginal bleeding in pre-pubertal girls and toilet paper is the most frequent foreign body found. Vaginoscopy in sedation is an essential tool for diagnosis and treatment. According to literature, psychological evaluation should be offered in case of vaginal foreign body in children, because of possible association with emotional and behavioural problems.
The Authors describe the case of an adolescent presenting with intense ear pain and facial palsy finally diagnosed with Ramsay Hunt syndrome.
Bambina di 9 anni, con primo accesso presso il Pronto Soccorso (PS) pediatrico per disuria e successiva ritenzione urinaria, risolta con cateterismo estemporaneo. Nei giorni a seguire compariva difficoltà ingravescente alla deambulazione, in particolare la madre riferiva che la bambina al domicilio aveva iniziato a "gattonare", per cui veniva condotta nuovamente presso nostro il PS pediatrico. Alla valutazione obiettiva: vigile e reattiva, coscienza lievemente obnubilata, rallentamento dell'eloquio, pupille anisocoriche, pupilla sinistra midriatica, scosse di nistagmo nello sguardo laterale, dismetria, ipodiadococinesia bilaterale, deviazione atassica degli arti maggiormente a sinistra, iperreflessia osteotendinea agli arti inferiori, deambulazione atassica. Sensibilità superficiali e profonde indenni.Anamnesi personale non significativa, in particolare muta per recenti infezioni o vaccinazioni. Storia familiare positiva per epilessia. Data la sintomatologia ingravescente, è stata eseguita una TC encefalo in urgenza risultata negativa. La bambina veniva, dunque, ricoverata per ulteriori accertamenti.Detta sintomatologia faceva porre il sospetto di una sindrome cerebello-piramidale.La diagnosi differenziale è stata volta ad escludere forme infettive, metaboliche, post-infettive e neoplastiche, in particolare: encefalomielite acuta disseminata (ADEM), encefaliti infettive e metaboliche, meningiti virali o batteriche, meningoencefaliti, encefaliti metaboliche, vasculiti del sistema nervoso centrale, neoplasie del sistema nervoso centrale.Veniva quindi sottoposta a risonanza magnetica di encefalo e midollo con riscontro di plurime lesioni encefaliche, sia sovra che sottotentoriali, iperintense in FLAIR e con restrizione in DWI, oltre a lesioni iperintense in T2 nel midollo, sia cervicale che dorsale, tutte con sincrona presa di contrasto (Figura 1). Tali reperti radiologici risultavano compatibili con encefalomielite acuta disseminata (ADEM). Successivamente, veniva effettuata una rachicentesi con prelievo di liquor che documentava iper-proteinorrachia, pleiocitosi cellulare, glicemia nella norma e
About 10% of children with cancer carry a pathogenic mutation in genes predisposing to tumourigenesis. These mutations are being identified more and more frequently thanks to the use of next-generation sequencing techniques in the diagnostic work-up of cancer, and their integration into clinical practice is a new challenge for oncogenetics. The diagnosis of a cancer predisposing syndrome (CPS) has important implications for the management of the patient, as well as for the patient’s family, who may also include potential carriers of the identified predisposing mutation. Clinical criteria have been developed to help clinicians suspect a predisposing condition: attention should be given to the family and patient’s medical history, to specific clinical signs and to specific histopathological tumour subtype. A multidisciplinary team with specific training is essential for the complex clinical management of these conditions.
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