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.
We describe the case of a seven-year-old child who, following the incidental finding of hypertransaminasemia in the blood tests performed for a lymphadenopathy, is subjected to other blood tests that show a persistent moderate increase in CPK values, supporting the hypothesis of a muscle disease even in the absence of specific symptoms. The diagnostic path seems to point towards a late-onset metabolic myopathy. The occasional finding of hypertransaminases , associated with the finding of high CPK levels in an asymptomatic or paucisymptomatic child, orients the diagnostic path. Excluding hepatic storage disease or viral infectious disease, the differential diagnosis leads to a complex late-onset myopathy such as Pompe disease, a rare but important diagnosis whose prognosis could be dramatically improved by the enzyme replacement therapy.
The paper reports the case of a three-month-old girl presenting with maculopapular lesions all over her scalp, trunk, axilla region and groin. One month earlier she had been diagnosed with LCH through skin biopsy for persisting maculopapular rash. No other organs appeared to be involved: blood and urine tests, chest X-rays and abdominal ultrasound were normal. On physical examination, the child’s general conditions were poor and she was pale and dyspneic. Massive cervical lymphadenopathy and hepatosplenomegaly were diagnosed. Laboratory tests showed anaemia and thrombocytopenia, coagulopathy and hypoalbuminemia while chest X-rays revealed a mediastinal mass. Multisystem LCH with risk organs involvement (liver, spleen, bone marrow) was diagnosed. Despite the initial good response, the disease relapsed following first and second-line chemotherapy. Due to the evidence of B-RAF<sup>V600E</sup> mutation, targeted therapy with vemurafenib was introduced with excellent response. This case highlights the importance of surveillance in skin-limited neonatal LCH due to the risk of rapid evolution into an aggressive and refractory multisystem disease.
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