Extraskeletal neuroectodermal tumour of the vagina: a single case report and review

Abstract  A case report and review of an extraskeletal neuroectodermal tumour of the vagina. Background  Ewing’s sarcoma (ES) and primitive neuroectodermal tumours (PNETs) account for approximately 6–10% of primary malignant bone tumours and, following osteosarcoma, are the second most common group of bone sarcomas in children. Ewing’s sarcoma rarely affects the genitourinary tract. Case summary  We report a rare case of extraskeletal Ewing’s sarcoma diagnosed in a 47-year-old Indian woman presenting with a simple cystic lesion in the posterior wall of the vagina. The histopathology revealed a rare presentation of a primitive malignant extraskeletal neuroectodermal tumour. Conclusion  As our PubMed review found only six previously reported cases of vaginal extraskeletal Ewing’s sarcoma. Presentation as vaginal masses helped in early disease detection.     

Analysis of puerperal hematoma: a retrospective study

Objective: To evaluate the characteristics and risk factors of puerperal hematoma.Materials and Methods: Data from the medical records of 2,776 women, who delivered vaginally between January 2008 and December 2017 in the authors’ hospital, were analyzed retrospectively.Results: Primigravida status was considered to be a significant risk factor. Among women with multigravida status, maternal age, instrumental delivery, and episiotomy were considered to be statistically significant risk factors. Regarding characteristics, hematoma occurred on the right side in 61.5% of cases, 53.8% were ≥50 mm in size, 61.5% were detected within 2 h of delivery, 46.2% were associated with severe pain, and 61.5% required surgical treatment.Conclusion: Primigravida status a risk factor for puerperal hematoma, and maternal age, instrumental delivery, and episiotomy were risk factors for puerperal hematoma in women with multigravida status. Puerperal hematomas occurred more frequently on the right side than the left reflected by the number of episiotomies performed on the right side. Approximately one-half of the hematomas were associated with severe pain, and many were detected within 2 h after delivery. Many hematomas, especially those associated with severe pain, required surgical removal.     

Vaginal metastasis presenting as postmenopausal bleeding

Vaginal cancer is rare worldwide and represents 2% of all gynaecological cancers in Singapore. Primary vaginal malignancies are rare and vaginal metastases constitute the majority of vaginal malignancies. Most of these metastases arise from the cervix, endometrium or ovary, although they can also metastasise from distant sites such as the colon, breast and pancreas. We report a rare case of vaginal metastasis in a patient with previous gastric and rectal adenocarcinomas. An 89-year-old woman with a history of gastric and rectal malignancy presented with postmenopausal bleeding. A 2-cm vaginal tumour at the introitus was discovered upon examination. This case demonstrates the importance of performing a gynaecological examination during follow-up for patients with a history of malignancy. The prognosis for vaginal metastasis is poor, as it is often associated with disseminated disease. Depending on the extent of the lesions, radiotherapy or surgery can be considered.     

Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba‐oculo‐tricho‐anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome

Loss of function mutations in FREM1 have been demonstrated in Manitoba‐oculo‐tricho‐anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. This infant also had renal dysplasia, a finding more consistent with BNAR syndrome. Another male who was homozygous for a novel stop mutation had an extensive eyelid colobomas, corneopalpebral synechiae, and unilateral renal agenesis. A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. The phenotype of FREM1‐related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. Moreover, our first case demonstrates that vaginal atresia may be a feature of FREM1‐related disorders. © 2013 Wiley Periodicals, Inc.     

Diferencias en la tasa de atrofia global y regional y del volumen lesional entre género en esclerosis múltiple

Introduction

Previous studies showed gender-associated clinical and MRI differences in multiple sclerosis (MS) evolution. However, only few studies were done with non conventional MRI techniques and no one was done in a South American MS population. The aim of this study was to investigate gender differences according to nonconventional MRI measures in patients with MS from Buenos Aires, Argentina.

Methods

Relapsing-remitting MS patients (RRMS) with at least 6 years of follow up and an MRI at onset and at 6 years were included. Patients were assessed using nonconventional MRI measures: total brain volume (TBV), neocortical grey brain volume (GBV), white brain volume (WBV), lesion load (LL), % of brain volume change between onset and year 6 (% BVC) and regional brain volume change. Gender-related MRI differences were investigated using general linear model analysis.

Results

The 45 patients were included (25 female). Mean follow up time was 7.3±0.2 years. No differences in age, EDSS at onset, DMD treatment, TBV, GBV, WBV neither LL were found between gender at baseline. Six years later, males showed a decrease in TBV (P=.002) and GBV (P≤0.001) and an increase in LL (P=.02) and % BVC (P<.001) vs. females. Female patients showed a decrease in the volume of frontal subcortical region.

Discussion

This is the first study showing differences in brain volume changes between gender in MS patients from South America. Future studies will confirm our initial findings.