Sickle cell nephropathy with diffuse proliferative lupus nephritis: a case report

Background

Liposarcomas are among the most common sarcomas of adult life. Pleomorphic liposarcoma, characterized by pleomorphic lipoblasts, is the rarest subtype. To our knowledge only three cases of pleomorphic liposarcoma of the foot or ankle have been reported so far.

Case presentation

A 71-year-old female presented with a large growing mass on the dorsum of her right foot. Computed tomography showed invasive tumorous mass. Excision biopsy revealed the mass to be a pleomorphic liposarcoma, and below the knee amputation was performed.

Conclusion

Although the incidence of pleomorphic liposarcoma in the foot is very low, it is essential to perform thorough histological analysis of all soft tissue masses, regardless of their benign appearance, because only prompt radical surgery can result in a good prognosis for the patient.     

Relationship of hypoxia-inducible factor 1α and p21WAF1/CIP1 expression to cell apoptosis and clinical outcome in patients with gastric cancer

Background

This case report highlights two unusual surgical phenomena: lipoma-like well-differentiated liposarcomas and sciatic hernias. It illustrates the need to be aware that hernias may not always simply contain intra-abdominal viscera.

Case presentation

A 36 year old woman presented with an expanding, yet reducible, right gluteal mass, indicative of a sciatic hernia. However, magnetic resonance imaging demonstrated a large intra- and extra-pelvic fatty mass traversing the greater sciatic foramen. The tumour was surgically removed through an abdomino-perineal approach. Subsequent pathological examination revealed an atypical lipomatous tumour (synonym: lipoma-like well-differentiated liposarcoma). The patient remains free from recurrence two years following her surgery.

Conclusion

The presence of a gluteal mass should always suggest the possibility of a sciatic hernia. However, in this case, the hernia consisted of an atypical lipoma spanning the greater sciatic foramen. Although lipoma-like well-differentiated liposarcomas have only a low potential for recurrence, the variable nature of fatty tumours demands that patients require regular clinical and radiological review.     

Venous pseudo-aneurysm as a late complication of short-term central venous catheterisation

Background

Adrenocortical carcinoma is a rare, highly malignant tumor. Cardiac involvement of the tumor is very rare. Echocardiography facilitates the evaluation of the cardiac involvement of the tumor.

Case Presentation

We describe a patient with an adrenal tumor. Transthoracic echo showed its extension into the right atrium. Accordingly, a combined abdominal and cardiac operation was performed, monitored by transesophageal echocardiography.

Conclusion

This case highlights the importance of echocardiography in revealing the cardiac involvement by this tumor and in planning the operative procedure.     

Carpal tunnel syndrome due to an atypical deep soft tissue leiomyoma: The risk of misdiagnosis and mismanagement

Background

Eccrine carcinoma is a quite rare malignant tumor that typically arises from a normal sweat gland and that features a rather high recurrence rate subsequent to simple excision. Given its rather poor response to adjuvant therapy, wide excision of the lesion with tumor-free margins may offer a reasonable chance for long-term control of this neoplasm.

Case presentation

Herein, we report on an unusual case of perianal eccrine carcinoma, initially presenting as a perianal abscess.

Conclusion

Even though eccrine carcinomas would appear to be rare, when dealing with recurrent skin tumors or recurrent perianal fistulas, the possibility of eccrine carcinoma should be considered by consulting clinicians.     

Human immunodeficiency virus seroconversion presenting with acute inflammatory demyelinating polyneuropathy: a case report

Introduction

Electrocardiogram (ECG) abnormalities in patients with blunt chest trauma are diverse and non-specific, but may be indicative of potentially life-threatening conditions.

Case presentation

We report a rare case of pneumopericardium with extreme ECG abnormalities after blunt chest trauma in a 22-year-old male. The diagnosis was confirmed using computed tomography (CT) scanning. The case is discussed, together with its differential diagnosis and the aetiology of pneumopericardium and tension pneumopericardium.

Conclusion

Pneumopericardium should be distinguished from other pathologies such as myocardial contusion and myocardial infarction because of the possible development of tension pneumopericardium. Early CT scanning is important in the evaluation of blunt chest trauma.     

The first case of septicemia due to nontoxigenic Corynebacterium diphtheriae in Poland: case report

Background

CMV-induced vasculopathy and thrombosis have been reported, but they are rare conditions usually encountered in immunocompromised patients. However more and more complications of CMV infections are recognized in immunocompetent patients.

Case presentation

We present a case report of a previously healthy adult with cytomegalovirus infection that was complicated by tibiopopliteal deep venous thrombosis and in whom Factor V Leiden heterozygous mutation was found.

Conclusion

This new case report emphasizes the involvement of cytomegalovirus in induction of vascular thrombosis in patients with predisposing risk factors for thrombosis. It is necessary to screen for CMV infection in patients with spontaneous thrombosis and an history of fever.     

Multifocal Langerhans cell sarcoma involving epidermis: a case report and review

Background

Leiomyomas are benign tumours that originate from smooth muscles. They are often seen in the uterus, but also in the renal pelvis, bladder, spermatic cord, epididymis, prostate, scrotum or the glans penis. Leiomyomas of the tunica albuginea are extremely rare.

Case presentation

A 59-year-old white male has noted an asymptomatic tumour on the right side of his scrotal sac for several years. This tumour has increased slowly and caused local scrotal pain. An inguinal incision was performed, in which the hypoplastic testis, the epididymis and the tumour could be easily mobilized. Macroscopically the tumour showed a solid round nonencapsulated whorling cut surface. Histologically the diagnosis of a leiomyoma was made.

Conclusion

We report here a very interesting and rare case of a leiomyoma of the tunica albuginea. Leiomyomas can be a possible differential diagnosis in this area.

Virtual Slides

http://www.diagnosticpathology.diagnomx.eu/vs/2585095378537599     

Urachal tumour: case report of a poorly understood carcinoma

Background

Synchronous midgut carcinoids with gastrointestinal adenocarcinoma are a rare but recognised association.

Case presentation

The patient, a 74 year old woman, underwent anterior resection for a low rectal adenocarcinoma. Intra-operatively 3 serosal deposits of tumour were noted in the distal ileum. Histology revealed these to be ileal carcinoids.

Conclusion

During resection of a gastrointestinal tumour, a thorough inspection of the abdominal cavity should be undertaken to investigate the possibility of metastatic secondaries or a synchronous tumour as is reported in this case.     

Schizophyllum commune: A New Organism in Eye Infection

Purpose

We report a case of mycotic keratitis caused by a rare fungus Schizophyllum commune.

Methods

Clinical examination, slit-lamp examination, and microbiological evaluation of the corneal ulcer were done, and its treatment outcome was studied. The fungal etiology was established by conventional microbiological techniques, polymerase chain reaction and speciation by DNA sequencing.

Results

Corneal scraping showed the presence of fungal filaments. The fungus was identified as S. commune based on DNA sequence analysis of the internal transcribed spacer region. The organism was susceptible to amphotericin B and voriconazole and demonstrated resistance to anidulafungin, itraconazole, and fluconazole. Therapeutic keratoplasty was performed but there was recurrence of the infection in the graft, which was controlled with topical voriconazole and intracameral amphotericin B. At the end of 3 months, the affected eye had developed phthisis bulbi.

Conclusion

The best of our knowledge, this is the first reported case of keratitis caused by the rare fungus S. commune. Management of these cases is difficult, and surgical procedures may be needed.     

Xanthogranuloma of the intrasellar region presenting in pituitary dysfunction: a case report

Introduction

Differentiation of cystic mass lesions of the sellar and parasellar regions may pose a diagnostic dilemma for physicians, neurosurgeons, radiologists and pathologists involved in treating patients with these entities. A considerable number of tumors previously identified as craniopharyngiomas may, in fact, have been xanthogranulomas. We report a case of pituitary dysfunction caused by xanthogranuloma of the intrasellar region.

Case presentation

A 47-year-old man of Japanese descent presented to our institution with a tumor located exclusively in the intrasellar region which manifested as severe hypopituitarism. MRI revealed a clearly defined intrasellar mass that was heterogeneously hyperintense on T1-weighted images and markedly hypointense on T2-weighted images. We preoperatively diagnosed the patient with Rathke's cleft cyst or non-functioning pituitary adenoma. Although the tumor was completely removed using a transsphenoidal approach, the improvement of the patient's endocrine function was marginal, and continued endocrine replacement therapy was needed. Postoperatively, a histological examination revealed the tumor to be a xanthogranuloma of the intrasellar region. His visual field defects and headache improved.

Conclusion

Because diagnosis depends on surgical intervention and xanthogranulomas of the intrasellar region are very rare, the natural history of xanthogranuloma is still unknown. Therefore, this entity is difficult to diagnose preoperatively. We suggest that xanthogranuloma should be included in the differential diagnosis, even in the case of sellar lesions, to formulate appropriate postoperative management and improve endocrine outcomes.     

Extragonadal germ cell tumor presenting in a woman with systemic lupus erythematosus: a case report

Introduction

Esophageal intramural pseudodiverticulosis is a rare condition characterized by the dilatation of the submucosal glands.

Case presentation

We present a case of esophageal intramural pseudodiverticulosis in a 72-year-old Caucasian man who presented with dysphagia and with a background history of alcohol abuse. An upper gastrointestinal endoscopy of our patient showed an esophageal stricture with abnormal mucosal appearances, but no malignant cells were seen at biopsy. Appearances on a barium esophagram were pathognomonic for esophageal intramural pseudodiverticulosis.

Conclusion

We demonstrate the enduring usefulness of barium esophagography in the characterization of abnormal mucosal appearances at endoscopy.     

Percutaneous septal ablation for left mid-ventricular obstructive hypertrophic cardiomyopathy: a case report

Background

Mid-ventricular obstructive hypertrophic cardiomyopathy (MVOHC) is a rare type of cardiomyopathy. The diagnosis is based on the hourglass appearance on the left ventriculogram and the presence of pressure gradient between apical and basal chamber of the ventriculum on the hemodynamic assessment.

Case presentation

The present case represents successful percutaneous treatment with septal ablation to patient with MVOHC associated with systolic anterior motion of the mitral valve and obstruction at both the mid-ventricular and outflow levels.

Conclusion

Alcohol septal ablation has been proposed as less invasive alternatives to surgery in patients with MVOHC.     

Infection control and the significance of sputum and other respiratory secretions from adult patients with cystic fibrosis

Background

Although various hematologic abnormalities are seen in tuberculosis, immune thrombocytopenic purpura is a rare event.

Case Presentation

We report a case of a 29 year-old male who was presented with immune thrombocytopenia-induced hemoptysis, macroscopic hematuria and generalized petechiae. The patient was found to have clinical, microbiological and radiological evidence of active pulmonary tuberculosis. The immune thrombocytopenic purpura was successfully treated with anti-tuberculous drugs combined with corticosteroids and high dose immune globulin therapy.

Conclusion

Immune thrombocytopenic purpura can be one of the hematological manifestations of tuberculosis which has a global prevalence with increasing incidence secondary to HIV infection.     

Solitary metastatic adenocarcinoma of the sternum treated by total sternectomy and chest wall reconstruction using a Gore-Tex patch and myocutaneous flap: a case report

Introduction

Necrotizing soft tissue infection is a life-threatening disease characterized by rapid progressive inflammation and necrosis of the subcutaneous and deep fascia with or without involvement of the adjacent muscles.

Case presentation

We report the case of a 62-year-old Caucasian woman with goiter recurrence who underwent a right-sided hemithyroidectomy. Postoperatively, she developed fulminant mediastinitis caused by group A β-hemolytic streptococcus and septic shock. Our patient survived this rare life-threatening complication.

Conclusions

Initial atypical postoperative symptoms, such as personality changes or an unstable circulatory system, should lead a practitioner to consider the possibility of this severe complication and to begin therapy immediately.     

Rare causes of scoliosis and spine deformity: experience and particular features

Background

Spine deformity can be idiopathic (more than 80% of cases), neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities.

Methods

A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002). The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case.

Results

In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia), muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis) in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness). Nine of these patients were surgically treated. Surgery was avoided in 3 patients.

Conclusion

This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.     

Jejunoduodenal intussusception caused by a solitary polyp in a woman with Peutz-Jeghers syndrome: a case report

Introduction

Peutz-Jeghers syndrome is a rare autosomal dominant disorder characterized by hamartomatous polyps and characteristic mucocutaneous pigmentation. The hamartomatous polyps of Peutz-Jeghers syndrome can cause intestinal occlusion, especially in the small intestine. Intussusception is seen frequently in children, but rarely in adults.

Case presentation

We present the case of a 21-year-old female patient who was admitted to our emergency service with symptoms of ileus as a result of intussusception due to duodenal polyps. Radiological and endoscopic findings determined a jejunoduedonal intussusception. After an unsuccessful endoscopic attempt, a laparotomy was performed that revealed a polypoid mass originating from the fourth part of her duodenum, with intussusception of her proximal jejunum.

Conclusion

Intussusception caused by Peutz-Jeghers syndrome is a rare diagnosis and is mostly jejunojejunal or jejunoileal. Despite the fact that a few duodenojejunal cases have been reported, this is to the best of our knowledge the first case of jejunoduedonal intussusception in a patient with Peutz-Jeghers syndrome to be described in the literature.     

Paraneoplastic limbic encephalitis presenting as a neurological emergency: a case report

Introduction

Dentin dysplasia is a rare hereditary disturbance of dentin formation characterized by defective dentin development with clinically normal appearing crowns, severe hypermobility of teeth and spontaneous dental abscesses or cysts. Radiographic analysis shows obliteration of all pulp chambers, short, blunted and malformed or absent roots and peri-apical radiolucencies of non carious teeth.

Case presentation

We present a case of dentin dysplasia type I in a 12-year-old Iranian boy, and the clinical, radiographic and histopathologic findings of this condition and treatment are described.

Conclusions

There are still many inconclusive issues in the diagnosis and management of patients with dentin dysplasia. The diagnostic features of this rare disturbance will remain incompletely defined until additional cases have been described. Early diagnosis of the condition and initiation of effective regular dental treatments may help these patients to prevent or delay loss of dentition.     

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

Background

Cerebral venous sinus thrombosis (CVST) is a relatively rare cerebrovascular condition which accounts for 0.5% of all strokes. Risk of CVST has been documented in patients with numerous conditions including central nervous system infections, however, Japanese encephalitis (JE, epidemic encephalitis type B) with CVST has not been reported previously.

Case Presentation

Here, we present a case of JE with CVST in a 17-year-old man. On admission, the patient was initially diagnosed as intracranial infection, and soon after, brain magnetic resonance (MR) imaging (MRI) and MR Venography (MRV) confirmed the diagnosis of CVST. Moreover, the blood JE-specific IgM antibody which proved weakly positive at first, turned positive one week later. Consequently, our patient was diagnosed as CVST accompanied by JE. Anticoagulant and anti-infective therapy were initiated, which eventually lead to gradual recovery of the patient.

Conclusions

To our knowledge, this is the first case report of CVST associated with JE. MRI and MRV represent a prime method for the diagnosis of CVST, while the positivity of JE virus IgM antibody, especially increased antibody levels within a short period, is of great significance to diagnose JE. The early diagnosis and timely treatment of this potentially lethal condition would improve its prognosis significantly.     

Echocardiographic imaging of tricuspid and pulmonary valve abnormalities in primary ovarian carcinoid tumor

Introduction

The anterior mitral leaflet cleft is an unusual congenital lesion most often encountered in association with other congenital heart defects. The isolated anterior leaflet cleft is quite a rare anomaly and is usually cause of mitral valve regurgitation. The importance of the lesion is that it is often correctable. When feasible, cleft suture and, eventually, annuloplasty are preferable to valve replacement. Echocardiography is the first choice technique in the evaluation of mitral valve disease, providing useful information about valve anatomy and hemodynamic parameters.

Case presentation

We present a case of an isolated anterior mitral leaflet cleft producing moderate-severe mitral regurgitation correctly identified by echocardiography and successfully surgically corrected.

Conclusion

Isolated cleft is a rare aberration, that has to be known in order to be diagnosed. Transthoracic and transesophageal echocardiography is the most useful non invasive technique for cleft diagnosis and to indicate the right surgical correction.     

Altered PTEN expression; a diagnostic marker for differentiating normal, hyperplastic and neoplastic endometrium

Background

Primary non-Hodgkin lymphoma (NHL) of the breast represents 0.04–0.5% of malignant lesions of the breast and accounts for 1.7–2.2% of extra-nodal NHL. Most primary cases are of B-cell phenotype and only rare cases are of T-cell phenotype. Anaplastic large cell lymphoma (ALCL) is a rare T-cell lymphoma typically seen in children and young adults with the breast being one of the least common locations. There are a total of eleven cases of primary ALCL of the breast described in the literature. Eight of these cases occurred in proximity to breast implants, four in relation to silicone breast implant and three in relation to saline filled breast implant with three out of the eight implant related cases having previous history of breast cancer treated surgically. Adjuvant postoperative chemotherapy is given in only one case. Secondary hematological malignancies after breast cancer chemotherapy have been reported in literature. However in contrast to acute myeloid leukemia (AML), the association between lymphoma and administration of chemotherapy has never been clearly demonstrated.

Case Presentation

In this report we present a case of primary ALCL of the breast arising in reconstruction mamoplasty capsule of saline filled breast implant after radical mastectomy for infiltrating ductal carcinoma followed by postoperative chemotherapy twelve years ago.

Conclusion

Primary ALK negative ALCL arising at the site of saline filled breast implant is rare. It is still unclear whether chemotherapy and breast implantation increases risk of secondary hematological malignancies significantly. However, it is important to be aware of these complications and need for careful pathologic examination of tissue removed for implant related complications to make the correct diagnosis for further patient management and treatment. It is important to be aware of this entity at this site as it can be easily misdiagnosed on histologic grounds and to exclude sarcomatoid carcinoma, malignant melanoma and pleomorphic sarcoma by an appropriate panel of immunostains to arrive at the correct diagnosis of ALCL.