Aggressive angiomyxoma of the vagina: a case report

Aggressive angiomyxoma is a rare, slow-growing soft tissue tumor that usually arises in the pelvis and perineal regions of women in reproductive age, with a marked tendency to local recurrence. Because of its rarity, it is often initially misdiagnosed. Surgical resection is the main treatment modality of aggressive angiomyxoma. We describe a case of a vaginal aggressive angiomyxoma in a 47-year-old woman in which the diagnosis was only made after histological examination. The etiology, presentation, diagnosis and management of this rare tumor are outlined. Angiomyxoma of vulva and vagina refers to a rare disease. Pre-operative diagnosis is difficult due to rarity and absence of diagnostic features, but it should be considered in every mass in genital, perianal and pelvic region in a woman in the reproductive age. Thus, these cases should have complete radiological workup before excision, as pre-diagnosis can change the treatment modality and patient prognosis'.

Mondor's disease in puerperium: case report

Mondor's disease is a rare entity characterized by sclerosing thrombophlebitis classically involving one or more of the subcutaneous veins of the breast and anterior chest wall. It is usually a self-limited, benign condition, despite of rare cases of association to cancer. We present the case of a 32 year-old female, breast-feeding, who went to emergency due to left mastalgia for the past week. She was taking antibiotics and non-steroidal anti-inflammatory drugs, previously prescribed for suspicious of mastitis, for three days, with no clinical improvement. Physical examination showed an enlarged left breast, an axillary lump and a painful cord-like structure in the upper outer quadrant of the same breast. Ultrasound scan showed a markedly dilated superficial vein in the upper outer quadrant of left breast. The patient was given a ventropic therapy and was kept in anti-inflammatory, with progressive pain improvement. Ultrasound control was performed after four weeks, showing reperfusion.

Herlyn-Werner-Wunderlich syndrome: a case report

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital disorder of the Müllerian ducts in which there is uterus didelphys, obstructed hemivagina and unilateral renal agenesis. The most common presentation is an abdominal mass secondary to hematocolpos, pain and dysmenorrhea. However, in some cases, such as the one we present here, menses are normal due to an obstructed hemivagina, and diagnosis can be delayed. We describe evaluation and surgical management of a 13-year-old girl with this condition who was diagnosed by computed tomography (CT) scan and confirmed by pelvic ultrasound and surgical exploration, as well as a review of the literature.

Lobular Carcinoma in Situ with Atypical Mass Presentation: a Case Report

Lobular carcinoma in situ (LCIS) is associated with an increased risk of breast cancer and accounts for 1 to 2% of all breast cancers. LCIS diagnosis currently remains one of the major identifiable risk factors for subsequent breast cancer development. Imaging methods are becoming increasingly sensitive, and the consequent detection of small lesions and subtle abnormalities increases the chance of detection of in situ and invasive carcinomas, leading to a reduction in mortality. This report describes a case of a palpable complaint with abnormal imaging findings, including a solid LCIS mass.

Hepatitis C virus infection, cryoglobulinemia, and peripheral neuropathy: a case report

Hepatitis C virus (HCV) is essentially hepatotropic but its manifestations can extend beyond the liver. It can be associated with autoimmune diseases, such as mixed cryoglobulinemia, membranoproliferative glomerulonephritis, autoimmune thyroiditis, and lymphoproliferative disorders. The mechanisms that trigger these manifestations are not completely understood. We describe a 48-year-old man with chronic HCV infection (circulating HCV RNA and moderate hepatitis as indicated by liver biopsy), cryoglobulinemia, and sensory and motor peripheral neuropathy. The diagnosis of multineuropathy was confirmed by clinical examination and electromyographic tests. A nerve biopsy revealed an inflammatory infiltrate in the perineurial space and signs of demyelination and axonal degeneration. The patient had no improvement of neurological symptoms with the use of analgesics and neuro-modulators. He was then treated with interferon-alpha (3 million units subcutaneously, 3 times per week) and ribavirin (500 mg orally, twice a day) for 48 weeks. Six months after the end of therapy, the patient had sustained viral response (negative HCV RNA) and remission of neurological symptoms, but cryoglobulins remained positive. A review of the literature on the pathogenesis and treatment of neurological manifestations associated with HCV infection is presented. This report underscores the need for a thorough evaluation of HCV-infected patients because of the possibility of extrahepatic manifestations. Antiviral treatment with interferon and ribavirin can be effective and should be considered in patients with neurological complications associated with HCV infection.

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. We report here the diagnosis of GS2 in 3-year-old twin siblings, with silvery-gray hair, immunodeficiency, hepatosplenomegaly and secondary severe neurological symptoms that culminated in multiple organ failure and death. Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. A homozygous nonsense mutation, C-T transition (c.550C>T), in the coding region of the RAB27A gene, which leads to a premature stop codon and prediction of a truncated protein (R184X), was found. In patient mononuclear cells, RAB27A mRNA levels were the same as in cells from the parents, but no protein was detected. In addition to the case report, we also present an updated summary on the exon/intron organization of the human RAB27A gene, a literature review of GS2 cases, and a complete list of the human mutations currently reported in this gene. Finally, we propose a flow chart to guide the early diagnosis of the GS subtypes and Chédiak-Higashi syndrome.

More than 10 years survival with sequential therapy in a patient with advanced renal cell carcinoma: a case report

Although radical nephrectomy alone is widely accepted as the standard of care in localized treatment for renal cell carcinoma (RCC), it is not sufficient for the treatment of metastatic RCC (mRCC), which invariably leads to an unfavorable outcome despite the use of multiple therapies. Currently, sequential targeted agents are recommended for the management of mRCC, but the optimal drug sequence is still debated. This case was a 57-year-old man with clear-cell mRCC who received multiple therapies following his first operation in 2003 and has survived for over 10 years with a satisfactory quality of life. The treatments given included several surgeries, immunotherapy, and sequentially administered sorafenib, sunitinib, and everolimus regimens. In the course of mRCC treatment, well-planned surgeries, effective sequential targeted therapies and close follow-up are all of great importance for optimal management and a satisfactory outcome.

Random-start controlled ovarian stimulation for emergency fertility preservation in a patient with myelodysplastic syndrome: a case report

This study reports a case of a gonadotropin-releasing hormone agonist trigger in a young female with myelodysplastic syndrome (MDS) who underwent fertility preservation using random-start controlled ovarian stimulation. This method involves the stimulation of the ovary regardless of a patient's menstrual-cycle phase. A review of the related literature is also provided. A 17-year-old patient was diagnosed with MDS and required initiation of peripheral blood stem cell transplantation within a maximum of 3 weeks and was in the luteal phase of the menstrual cycle when the possibility of attempting preservation of fertility was presented to her. She opted for a random-start controlled ovarian stimulation with gonadotropins. With successful hemorrhagic prophylaxis, 17 oocytes were retrieved including 10 mature and 7 immature oocytes. Of the immature oocytes, 3 were successfully matured in vitro and a vitrification protocol was used to freeze the 13 mature oocytes.

Lipoprotein glomerulopathy: a case report of a rare disease in a brazilian child

Lipoprotein glomerulopathy (LPG) is a rare autosomal recessive glomerulopathy associated with the deposition of lipoprotein thrombi in the capillary lumina due to apoE gene mutations. Abnormal plasma lipoprotein profile and marked increase in serum apoliprotein E (apoE) are characteristic clinical data. The compromised patients can present nephrotic syndrome, hematuria, and progressive renal failure. Herein, the authors present the first described case of LPG in a Brazilian male patient, 11 years, who presented with a steroid-resistant nephrotic syndrome. Renal function was normal. Kidney biopsy showed markedly enlarged glomerulus, with dilated capillary loops and weak eosinophilic lipoprotein thrombi in the capillary lumina. Interstitium, tubules, arteries, and veins showed normal histologic aspect. Genotypic study for the apoE gene showed the presence of the alleles E3 and E4. The diagnosis of LPG was then performed. The patient received lipid-lowering treatment. After 2 years of follow-up, renal function is gradually decreasing, with persisting heavy proteinuria, despite a marked decrease in serum cholesterol and triglycerides levels.

Human fetal malformations associated with the use of an angiotensin II receptor antagonist: Case Report

Introduction: The potential risks related to drug exposure during pregnancy represent a vast chapter in modern obstetrics and data regarding the safety of antihypertensive drugs during pregnancy are relatively scarce. Case report: A 37-year-old patient discovered her fifth pregnancy at our hospital after 26 weeks and 4 days of gestation. She reported a history of hypertension and was currently being treated with Losartan. Hospitalization was recommended for the patient and further evaluation of fetal vitality was performed. On the fourth day an ultrasound was performed, resulting in a severe oligohydramnios, fetal centralization and abnormal ductus venosus. After 36 hours, the newborn died. Pathologic evaluation: At autopsy, the skullcap had large fontanels and deficient ossification. The kidneys were slightly enlarged. A microscopic examination detected underdevelopment of the tubules and the presence of some dilated lumens. Immunohistochemical detection of epithelial membrane antigen was positive. Immunoreactivity of CD 15 was also assayed to characterize the proximal tubules, and lumen collapse was observed in some regions. Discussion: Angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor antagonists (ARAs) are among the most widely prescribed drugs for hypertension. They are often used by hypertensive women who are considering become pregnant. While their fetal toxicity in the second or third trimesters has been documented, their teratogenic effect during the first trimester has only recently been demonstrated. Conclusion: Constant awareness by physicians and patients should be encouraged, particularly in regard to the prescription of antihypertensive drugs in women of childbearing age who are or intend to become pregnant.

Familial deletion 18p syndrome: case report

Affiliation: CHU Ste-Justine, Université de Montréal

Transcutaneous electrical nerve stimulation and primary dysmenorrhea: a case report

Primary dysmenorrhea is pelvic pain during the menstrual cycle. The A delta and C fibers aresensitized by the increased release of prostaglandins and leukotrienes, thus causing pain. TransElectric Nerve Stimulation (TENS) is a physiotherapeutic strategy that mitigatespain sensation. Objective: The aim of this paper is to present six cases of women in childbearingage who were diagnosed with primary dysmenorrhea and received transcutaneous electricnerve stimulation. Materials and methods: A type of study, case report, was conducted with sixwomen between 15 and 25 years of age with medical diagnosis of primary dysmenorrhea. Weassessed pain intensity utilizing the visual analogue pain scale and located the pain by usinga pain test map. Results: Pain intensity decreased in all treated women. Conclusion: Transcutaneouselectric nerve stimulation (TENS) is a physiotherapeutic strategy that mitigates painsensation. We conclude that high frequency TENSis a safe noninvasive modality to achievereduction of pain in primary dysmenorrhea.

Paroxysmal upgaze deviation: case report

The paroxysmal upgaze deviation is a syndrome that described in infants for first time in 1988; there are just about 50 case reports worldwide ever since. Its etiology is unclear and though it prognosis is variable; most case reports indicate that during growth the episodes tend to decrease in frequency and duration until they disappear. It describes a 16-months old male child who since 11-months old presented many episodes of variable conjugate upward deviation of the eyes, compensatory neck flexion and down-beat saccades in attempted downgaze. These events are predominantly diurnal, and are exacerbated by stressful situations such as fasting or insomnia, however and improve with sleep. They have normal neurologic and ophthalmologic examination, and neuroimaging and EEG findings are not relevant.

Feline cutaneous lymphangioma : case report

This article describes a case report of a feline cutaneous lymphangioma. Lymphangiomas (synonym: lymphangiomatosis) and lymphangiosarcomas are rare tumors, usually associated with skin, some are believed to be congenital in young animals associated with vascular abnormalities. In gross pathology description they are poorly defined, cavernous-spongy, soft and they may be identified along fascial planes, because of this it may be difficult to remove, so tumors tend to recur. In histopathology description we can see interconnecting channels lined by endothelium usually without erythrocytes, but these tumors do not have unique features.