CNS listeriosis confused with leptomeningeal carcinomatosis in a patient with a malignant insulinoma

We describe a case of presumed listeria monocytogenes rhomboencephalitis, which was initially confused with leptomeningeal carcinomatosis in a patient with a malignant carcinoid tumor. Long-term corticosteroid treatment and immunosuppression caused by malignancy predisposed the patient to developing listeriosis. The clinical and radiologic features of this illustrative case are described. Listeriosis is an important treatable differential diagnosis in patients with malignancy presenting with neurologic signs.     

Development of a Nephrotic Syndrome in a Patient with Gastrointestinal Stromal Tumor during a Long-Time Treatment with Sunitinib

A patient with advanced gastrointestinal stromal tumor (GIST) receiving second-line treatment with sunitinib developed edema, increase of the serum creatinine, weight gain, nephrotic syndrome with proteinuria of 12 g/24 h, dyslipidemia, hypoalbuminemia and also presented with hypertension. A kidney biopsy showed an immunocomplex glomerulonephritis. Steroid treatment was started, but the clinical conditions and laboratory values did not improve. So in the hypothesis that the nephrotic syndrome was induced by sunitinib, sunitinib was temporarily discontinued with a subsequent reduction of proteinuria and improvement in blood pressure control. In the last years, the introduction of sunitinib has modified the natural history of advanced GIST. However, due to chronic and prolonged intake of this drug, there is increasingly frequent detection of late and unknown toxicities in clinical practice. In particular, the late renal toxicity from sunitinib may be the primary clinical problem with this drug in the case of prolonged treatment. Monitoring of kidney function and blood pressure should be performed for early detection of side effects such as hypertension and kidney dysfunction in advanced GIST patients receiving long-term treatment with sunitinib. A clinical collaboration between oncologists and nephrologists could be useful with the objective to optimize the management of sunitinib.Key words: Gastrointestinal stromal tumor, Sunitinib, Nephrotic syndrome, Vascular endothelial growth factor, Proteinuria, Renal toxicity     

Disseminated cryptococcosis in a patient with AIDS

Summary. We report the case of a 31-year-old AIDS patient who had generalized cryptococcal disease with involvement of the lungs, bone marrow, gastrointestinal tract and skin as well as chorioretinitis which may have been due also to Cryptococcus neoformans infection. Initially there was no involvement of the central nervous system. The patient recovered after 43 days' treatment with fluconazole and amphotericin B and flucytosine initially. Four months later he presented with a cryptococcal splenic abscess despite secondary prevention with fluconazole and twice-weekly liposomal amphotericin B. After spleaectomy the patient was discharged in good health. One year later he died of cryptococcal meningitis
Zusammenfassung. Es wird über einen 31 Jahre alten AIDS-Patienten mit generalisierter Cryptococcose berichtet. Befallen waren Lunge, Knochenmark, Gastrointestinaltrakt und die Haut; vermutlich war auch eine Chorioretinitis Cryptococcus neoformans -bedingt. Das Zentralnervensystem war anfänglich nicht betroffen. Der Patient erholte sich unter 43 d Fluconazol-Behandlung nach anfänglicher Amphotericin B-Flucytosin-Kombinationstherapie. 4 Monate später zeigte sich trotz Sekundärprophylaxe mit Fluconazol und wöchentlich zweimaliger Gabe von liposomalem Amphotericin B ein Cryptococcus -bedingter Milzabszeß. Nach Splenektomie wurde der Patient in gutem Gesundheitszustand entlassen. Ein Jahr später verstarb er an Cryptococcus -Meningitis.     

Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1

Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer. Herein we describe a family with two women affected by both NF1 and early-onset breast cancer. We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer. Mutation analyses identified nonsense mutations in NF1 and BRCA1 genes. Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.     

Dramatic Response to Platinum in a Patient with Cancer with a Germline BRCA2 Mutation

We present a case of dramatic response of poor prognosis cancer in a lady with a germline mutation in the BRCA2 gene who was exposed to platinum containing chemotherapy. She is cancer-free 10 years’ later. Such cases provide clinical scenarios for the basis of trials of platinum-like agents in individuals with BRCA mutations who develop cancer.     

Paracoccidioidomycosis in a boy infected with HIV

Summary. Paracoccidioidomycosis has been rarely reported among HIV patients, despite being an endemic mycosis in Latin America. The present report illustrates a case of PM in a teenager infected with HIV. Clinicians must be aware that this mycosis may occur in young HIV infected patients who live in endemic areas.
Zusammenfassung. Paracoccidioidomykose wird selten bei HIV-Patienten beobachtet, obwohl die Mykose in Lateinamerika endemisch ist. Der vorliegende Bericht stellt eine Paracoccidioidomykose bei einem HIV-infizierten Teenager vor. Es wird darauf hingewiesen daß Kliniker bei jungen HIV-infizierten Patienten in Endemiegebieten auch an diese Mykose denken müssen.     

Bleeding in the patient with a malignancy

Many different factors can account for hemorrhagic complications in patients with malignancies. Potential etiologies include disease- or treatment-related impairment of bone marrow function, or trauma to highly friable and vascularized malignant tissues. Immune impairment may also occur in solid or hematologic malignancies, leading to spontaneous formation of inhibitory antibodies against coagulation factor VIII (FVIII). Because hemorrhage due to acquired FVIII inhibitors will not respond to conventional treatment algorithms for bleeding, failure to promptly recognize and diagnose this condition may result in undue morbidity and mortality. The persistence of FVIII autoantibodies in the patient with cancer may further complicate necessary invasive diagnostic or therapeutic procedures in the short term and lead to lethal bleeding in the long term. Oncologists must therefore maintain a high index of suspicion for this diagnosis as 1 of many potential causes of bleeding in patients with a malignancy.     

Dysphagia and dysphonia in a woman with a previous breast cancer

Metastasis to the thyroid occur infrequently. The overall incidence in autopsy series vary from 0–5% in unselected cases to 24% in patients with a known malignancy. They usually occur when there are another metastases, sometimes many years after diagnosis of the original primary tumour. We present the case of a woman with dysphagia and dysphonia due to a thyroid mass as first manifestation of a metastatic breast cancer.     

Paraneoplastic papilloedema in a child with neuroblastoma

Non-metastatic neurological disease complicating neuroblastoma is well recognized. Gross papilloedema in the absence of intracranial disease as initial manifestation of neuroblastoma is reported in adults. We report for the first time a case of bilateral papilloedema in a child with neuroblastoma in the absence of intracranial disease and hypertension.     

Panhypopituitarism in a patient with breast cancer

BACKGROUND: Malaise and fatigue are common symptoms of advanced malignant disease. Nevertheless, a specific cause--requiring specified treatment--for this symptom should be ruled out. We report on a patient with a complex endocrine dysfunction that developed due to a tiny metastasis of a breast carcinoma in the pituitary stalk. CASE REPORT: A 46- year-old woman presented with general ill feeling 3 years after operation for a breast carcinoma. She was diagnosed to have hepatic and peritoneal metastases and malignant pleural effusion. For the application of chemotherapy, an i.v.-port system in the right brachiocephalic vein was inserted. In the postoperative period, an emergency situation developed due to demasked cortisol deficiency and hypernatremia. Careful laboratory investigations revealed hypofunction of the anterior lobe of the pituitary gland and diabetes insipidus centralis. By MRI imaging of the parasellar region, a 4 x 5 mm metastatic lesion in the pituitary stalk was found--notable only in knowledge of the clinical diagnosis. The patient's condition and quality of life improved markedly with hormone replacement therapy. CONCLUSION: Metastatic cancer may present as endocrine disease, either by release of hormone-like substances or by tumorous destruction of endocrine structures. Metastases of solid tumors to the pituitary gland are often asymptomatic or present with diabetes insipidus. The presentation with a hypofunction of the anterior and posterior lobe of the pituitary gland is a rare event. It is recommended to consider endocrine dysfunction as potential cause of 'malaise' in a cancer patient.     

Macroamylasemia in a patient with multiple myeloma

We report a rare case of a patient with multiple myeloma who developed hyperamylasemia not associated to hyperamylasuria and without symptoms of pancreatic or salivary disease. This condition suggested the occurrence of macroamylasemia, consisting of macromolecules of amylase bound with immunoglobulins, which are not filtered by the kidneys. Hyperamylasemia was not present at the diagnosis of myeloma and appeared at the relapse of the disease, simultaneously with the appearance of an additional gamma-chain oligoclonal component, suggesting a possible role of these chains in producing macroamylasemia. To our knowledge, this is the first report of macroamylasemia in a patient with multiple myeloma.     

Leukemia in a child with Wilms' tumor

A case is described which illustrates an acute non-lymphocytic leukemia following multimodal control and apparent cure of Wilms' tumor. Literature cases are reviewed, and therapeutic inadequacies according to present protocols and their importance for the subsequent development of secondary leukemia are discussed.     

Adult respiratory distress syndrome in a pregnant patient with a pheochromocytoma

Five weeks after developing spells of shortness of breath, headache, weakness and abdominal pain, a 29-year-old woman, who was in the 36th week of her third pregnancy developed adult respiratory distress syndrome (ARDS). Although the ARDS resolved after a cesarean section, her infant died at birth. Her "spells" continued until a left pheochromocytoma was diagnosed and resected 2 years later. If there are no other known inciting causes of ARDS in a pregnant patient, a pheochromocytoma should be ruled out with appropriate catecholamine determinations.     

Chordoid meningioma in a patient with lymphangioleiomyomatosis

Journal of Neuro-Oncology -     

Cryofibrinogenemia in a Patient with B-Cell Lymphoma

Cryofibrinogenemia is an uncommon cause of intravascular coagulation necrosis of the skin and occurs as a result of vascular occlusion from cryoproteins, which reversibly precipitate in cold temperatures. The disease is associated with various conditions, most commonly neoplastic and thromboembolic diseases, and produces cutaneous manifestations such as purpura, ecchymoses, gangrene, and ulcerations. Diagnosis is based on clinical cutaneous manifestations, histopathology, and the laboratory detection of cryofibrinogen precipitation. Treatment is based upon resolution of the underlying disease process or condition, although some interventions have been reported to have therapeutic efficacy. We discuss the presentation, diagnosis, and treatment of a case of cryofibrinogenemia in a patient with underlying B-cell lymphoma.