Pfeifer-Weber-Christian panniculitis (PWCP). Description of a case and review of the literature

We report on a case of Pfeifer-Weber-Christian panniculitis (PWCP) in a 40 year old woman. PWCP is a rare inflammatory disorder of the subcutaneous fatty tissue. It is characterized by painful relapsing, subcutaneous nodules occurring preferentially at the upper arm, thigh and trunk regions. The disease is often accompanied by recurrent temperatures and constitutional symptoms. The clinical course of our patient had already lasted for four years when we saw her for the first time. Besides local panniculitis of the arms and the trunk she suffered from recurrent temperatures. Antibiotics and/or antiinflammatory therapy failed to control the disease. Laboratory tests and chest X-ray did not reveal noteworthy pathological results. PWCP was proven histologically and distinguished from other soft tissue disorders. The findings are discussed in the context of previous reports. The etiopathology of PWCP remains unclear and a specific therapy still awaits introduction.     

Peutz-Jeghers syndrome. Description of a case and literature review

The authors describe the case of a 7 year old boy who presented an intestinal intussusception due to a large jejunal hamartomatous jejunal polyp. The preoperative diagnosis of Peutz-Jeghers syndrome was based on typical mucocutaneous pigmentation and confirmed by radiological examination including computerized tomography of the abdomen. Following recent data from the literature, a long-term surveillance is justified after diagnosis of this syndrome, since malignant degeneration may occur within the intestinal polyps as well as in other organs.     

Management of cardiac myxoma during pregnancy: a case series and review of the literature

Cardiac myxomas are the most common primary benign tumors of the heart. The reported incidence during pregnancy is extremely low with only 17 reported cases in the medical literature. Standard therapy involves surgical resection given the potential for embolization. In the pregnant patient, however, the risks of embolization must be balanced against the risk of cardiopulmonary bypass to the mother and the fetus. We present two cases of cardiac myxoma diagnosed during pregnancy and review the presentation and management strategies of previously reported cases. In conclusion, successful surgical resection of the myxomas during pregnancy was performed in both of our cases. Given the rarity of cases, individual multidisciplinary assessment and management strategies are essential.     

Right atrial myxoma: echocardiographic diagnosis and review of the literature. Description of a clinical case

Two-dimensional echocardiography is the method of first choice for diagnosing right atrial myxoma. A case of right atrial myxoma, documented by two-dimensional echocardiography, is here presented. Two-dimensional echocardiography allows accurate assessment of, tumor size, site of attachment, mobility and consistency. This non-invasive technique has replaced angiocardiography in the routine preoperative evaluation of these cases. The myxomatous nature of the mass was confirmed at surgery.     

Atrial myxoma: case report and a review of the literature

Atrial myxomas are the most common benign primary tumor of the heart and occur in as many as 3 in 1000 patients. These tumors are a major cause of patient morbidity and mortality. Although the majority of atrial myxomas occur in the left atrium, 3 separate familial myxoma syndromes can result in multiple myxomas in atypical locations. Approximately 50% of patients with myxomas may experience symptoms due to central or peripheral embolism or intracardiac obstruction, but 10% of patients may be completely asymptomatic. Screening for myxomas should involve a thorough history and physical examination and a transthoracic and/or transesophageal echocardiogram. Transthoracic echocardiography is approximately 95% sensitive for the detection of cardiac myxomas, and transesophageal echocardiography approaches 100% sensitivity. Though the majority of atrial myxomas are sporadic, it is imperative that first-degree relatives of patients with documented myxomas undergo screening for occult myxomas. Surgical removal of the myxoma is the treatment of choice and usually curative; however, myxoma recurrence does occur and is most frequently associated with a familial syndrome.     

Familial myxoma. Report of a case and review of the literature

This is a report of two family members (mother and her first son) with atrial myxoma detected by echocardiography, computed axial tomography and cardiac catheterization, the former located in the left atrium and the latter in the right ventricle. They were successfully treated with heart surgery. We emphasize the need to detect myxoma in the other members of the family, especially when it is of multicentric localization.     

Echocardiographic diagnosis of left ventricular myxoma. Description of a case and review of the literature. Myxomas of the left ventricle

A case of left ventricular myxoma diagnosed by echocardiography and successfully removed by left ventriculotomy is reported. This is a 21 year old male, with the few symptoms which simulating an hypertrophic cardiomyopathy in contrast to the large size of the tumour. It is possible that myxomas are responsible for sudden death. Therefore, in presence of new cardiac signs kind and relevance, the possibility of a myxoma should be considered. The diagnosis can be easily ruled out (or confirmed) by echocardiography, which represents a valuable tool in the diagnosis of myxomas.     

Neurological manifestations of cardiac myxoma: a review of the literature and report of cases

Abstract Background and aims: Cardiac myxoma is a rare but important cause of stroke, which affects young people. More recently the diagnosis has been enhanced by the use of echocardiograms. We aimed to review the neurological presentations, including stroke, of cardiac myxoma in this modern era of diagnosis and management. Methods : Records of patients with neurological presentations at the Austin and Repatriation Medical Centre and The Northern Hospital were retrieved from 1985 to late 2001, using International Classification of Diseases codes for atrial myxoma. Published literature reports were obtained by using Medline search database. An iterative process of bibliography review was utilised to identify reports not found by primary search. Case demographics, neurological presentations, investigations, treatment and outcome were recorded. Results : From the Austin and Repatriation Medical Centre and The Northern Hospital, 6 cases were reported in detail and 107 cases from the published literature were analysed. The mean age of all cases was 43 (range 6?82). There was a female to male predominance (3:2). While there were overlapping neurological presentations, the most common presentation was ischaemic stroke (83% of all patients) most often in multiple sites (41%). The other presentations included syncope (28%), psychiatric presentations (23%), headache (15%) and seizures (12%). Commonest means of reaching the diagnosis was by echocardiography. The myxoma was surgically resected in 69% of cases. Of all cases, 24% were autopsy reports, almost all prior to availability of echocardiograms (in mid‐1970s). Conclusions : Patients who presented with neurological complications of cardiac myxoma were young and stroke was by far the most common single presentation. Importantly, when all clinical manifestations were considered, almost half were potentially reversible. In recent years, echocardiography has made significant contribution to establishing the diagnosis less invasively. There is uncertainty about the role of anticoagulants. The treatment of choice remains surgical excision, although the timing post stroke is debatable. There is a need for large scale collaborative studies to help refine management strat­egies. (Intern Med J 2004; 34: 243?249)     

Esophagopulmonary fistulas. Description of a case and review of the literature

We report the case of a 30-year old male patient who presented with chronic right lung purulence of 10 years' duration and of undetermined origin. At pneumonectomy a fistula joining the oesophagus to the cavities in the right lower lobe was discovered. Non tumoral oesophago-bronchial or oesophago-tracheal fistulae are rare, but oesophago-pulmonary fistulae are truly exceptional, since only 3 cases were found in the literature. The possible causes of this pathology in our patient are discussed.     

Cushing's syndrome during pregnancy: personal experience and review of the literature

Cushing's syndrome (CS) occurs rarely during pregnancy. We investigated and treated four patients with pituitary-dependent Cushing's syndrome during pregnancy over a 15-yr period at the National Institutes of Health. Except for preservation of menses before conception, our patients presented with typical clinical features, increased urinary free cortisol, and loss of diurnal variation of cortisol. The diagnosis was facilitated, without complications, by the use of CRH testing and inferior petrosal sinus sampling in three women. Transsphenoidal pituitary surgery achieved remission in three women, but there were two fetal/neonatal deaths. This experience and review of 136 previous reports suggest that: 1) urinary free cortisol in CS patients overlaps the normal pregnant range; 2) ACTH levels are not suppressed in adrenal causes of CS, which may be identified by the 8-mg dexamethasone test; 3) inferior petrosal sinus sampling and transsphenoidal pituitary surgery, the optimal diagnostic test and treatment for nonpregnant patients with pituitary-dependent Cushing's syndrome, can safely facilitate the management of pregnant patients; and 4) surgery may achieve remission during pregnancy, but the prognosis for the fetus remains guarded. It is likely that earlier recognition and treatment would improve outcome. There is a need for development of criteria for interpretation of diagnostic tests and increased consideration of CS in pregnancy.     

Primary carcinoma of the pituitary gland with Cushing's syndrome and metastases. Apropos of a case with review of the literature

We report the case of a 25 year old man with pituitary carcinoma with Cushing's syndrome. Though the diagnosis was initially proposed, it was only confirmed by the appearance of meningeal and lymphatic metastases. These were secretory, as confirmed by immunocytochemistry and electron microscopy. These tumours are rare, whether they secrete or not, and can be confirmed only by the existence of metastases, most often in the brain or the liver.     

Gastric epithelioid leiomyoma (leiomyoblastoma). Analysis of a case and review of the literature

The authors report a case of gastric epithelial leiomyoma (leiomyoblastoma). Macroscopically, such tumors resemble leiomyoma, with a biological behavior between leiomyoma and leiomyosarcoma. A review of the medical literature indicates that gastrointestinal bleeding is the most usual manifestation. Gastrointestinal seriography and endoscopy are the most utilized diagnostic exams. The endoscopic biopsy, many times, is unable to confirm the malignant or benign nature of the tumor. It is emphasized the importance of identifying the potentially malignant tendency of the tumor, indicated, mainly, by histology and mitotic counting. The treatment is surgical and consists of local or gastric resection, according to the neoplastic localization, its extension, infiltration, biological nature and the presence of multiple tumors. In the case reported, the patient was operated in urgency because of hemoperitoneum and the source of bleeding was a neoplastic vessel in the anterior wall of the antrum, which was not resected at that time. Later on, a biopsy of the gastric tumor performed during a routine surgery disclosed the real nature of the disease. Once the histopathological diagnostic was made and its potential malignant evolution detected the patient was re-operated. A partial gastrectomy with removal of the antrum was performed. Now, the patient has been asymptomatic with no evidences of metastasis after 30 months of the diagnostic.     

Multi-step approach in a complex case of Cushing's syndrome and medullary thyroid carcinoma

The diagnosis of Cushing's syndrome (CS) may sometimes be cumbersome. In particular, in ACTH-dependent CS it may be difficult to distinguish between the presence of an ACTH-secreting pituitary adenoma and ectopic ACTH and/or CRH secretion. In such instances, the etiology of CS may remain unknown despite extensive diagnostic workout, and the best therapeutic option for each patient has to be determined. We report here the case of a 54-yr-old man affected by ACTH-dependent CS in association with a left adrenal adenoma and medullary thyroid carcinoma (MTC). He presented with clinical features and laboratory indexes of hypercortisolism associated with elevated levels of calcitonin. Ectopic CS due to MTC was reported previously. In our case hypercortisolism persisted after surgical treatment of MTC. Thorough diagnostic assessment was performed, in order to define the aetiology of CS. He was subjected to basal and dynamic hormonal evaluation, including bilateral inferior petrosal sinus sampling. Extensive imaging evaluation was also performed. Overall, the laboratory data together with the results of radiological procedures suggested that CS might be due to inappropriate CRH secretion. However, the source of CRH secretion in this patient remained unknown. It was then decided to remove the left adenomatous adrenal gland. Cortisol level fell and has remained within the normal range nine months after surgery. This case well depicts the complexity of the diagnostic workout, which is needed sometimes to correctly diagnose and treat CS, and suggests that monolateral adrenalectomy may represent, at least temporarily, a reasonable therapeutic option in occult ACTH-dependent hypercortisolism.     

Carney complex: a case report and literature review

Carney complex (CNC) is a familial multiple neoplasia syndrome associated with abnormal skin and mucosal pigmentation, primary pigmented nodular adrenocortical disease (PPNAD), cardiac and cutaneous myxomas, GH and PRL pituitary adenoma, testicular tumors, thyroid adenoma or carcinoma and ovarian cysts. CNC is inherited as an autosomal dominant trait and has some clinical similarities to McCune-Albright syndrome. Recently, genes related to stimulation of the cAMP signaling pathway have been considered candidates for causing CNC. We report a 17-yr-old man with PPNAD, lentigines on the face and severe osteoporosis. In this article we aim at describing the clinical aspects and molecular genetics of CNC and also summarizing diagnostic criteria for CNC and recommendations for follow-up.     

Hemophagocytic syndrome (case report and literature review)

The haemophagocytic syndrome (HPS) is clinically characterized by fever, pancytopenia and hepatosplenomegaly. Usually it takes an acute course with a high mortality. The pathogenetic basis is inadequate activation of the immune system--in particular Th1-lymphocytes with subsequent overproduction of cytokines and extreme activation of macrophages with haemophagocytosis. The activated cells infiltrate organs, cause tissue damage and clinical manifestations of the syndrome. From the etiological aspect two forms exist: primary (familial) with autosomal recessive inheritance and the secondary form which forms a heterogeneous sub-group, caused as a rule by infection and/or a tumour. The prognosis seems somewhat more favourable in secondary forms. In treatment which is essentially the same for both forms, chemotherapy combined with immunosuppression proves useful, in more aggressive forms chemotherapy as used in the treatment of non-Hodgkin lymphomas. The only curative method is transplantation of haematopoietic stem cells which is also the treatment of first choice in the familial form of haemophagocytosis. In the submitted paper the authors present a review of contemporary knowledge on this treacherous and relatively rare entity. The haemopgagocytic syndrome should be always taken into account in the differential diagnosis of fever with an obscure etiology. The authors assume that the haemophagocytic syndrome is rarely considered in practice and therefore is usually inadequately diagnosed and thus not treated in time. In the conclusion the authors describe the case-records of a 26-year-old female patient with haemophagocytic syndrome which developed during pregnancy.