Shwachman-Diamond syndrome is a rare autosomal recessive multisystem disease characterized by pancreatic exocrine insufficiency, skeletal abnormalities, impaired hematopoiesis, and a predisposition to hematologic malignancies. Considerable phenotypic variability between individuals, as well as within the same individual over time, can make the diagnosis challenging. It is important to make the diagnosis ...

We report a patient with diffuse large B-cell lymphoma (DLBCL) who initially presented as Miller Fisher syndrome (MFS) responsive to high-dose immunoglobulin treatment. Detailed investigations for the recurrence of neurological symptoms revealed DLBCL that was responsive to chemotherapy. DLBCL should be considered in the differential diagnosis of patients with MFS ...

Hypothalamic obesity syndrome can affect brain tumor patients following surgical intervention and irradiation. This syndrome is rare at diagnosis in childhood cancer, but has been reported with relapse of acute lymphoblastic leukemia. Here we present a case of hypothalamic obesity syndrome as the primary presentation of a toddler found to ...

Richter syndrome (RS) describes the development of high-grade non-Hodgkin's lymphoma (NHL) from low-grade NHL. RS isolated to the brain is very rare and has a poor prognosis. We describe the cases of high-grade large B-cell diffuse NHL in a 56-year-old male with chronic lymphocytic leukemia and in a 71-year-old female ...

ABSTRACT: BACKGROUND: In the last years human proteomic has represented a promising tool to promote the communication between basic and clinical science. METHODS: To explore the correspondence between salivary proteomic profile and clinical response, herein, we used a proteomic approach to analyse the whole saliva of a patient with primary ...

We report a unique case of periocular nonnecrobiotic necrobiotic xanthogranuloma in a 52-year-old white woman with Sjögren syndrome who was subsequently found to have an immunoglobulin G paraproteinemia and coexisting small lymphocytic lymphoma. Therapy with fludarabine, cytoxan, and rituximab (FCR) resulted in a dramatic resolution of her sicca symptoms and ...

This article reviews a group of miscellaneous malignant conditions that may mimic rheumatologic diseases. Primary salivary gland cancer as well as lymphoproliferative conditions such as lymphoma and IgG4 related syndromes should be considered when evaluating a patient with sialadenosis. Primary intraocular lymphoma and melanoma in adults as well as leukemia ...

Non-Hodgkin lymphoma (NHL) related vanishing bile duct syndrome (VBDS) is a rare condition that often leads to liver failure and death. A 64-year-old man with history of rheumatic heart disease complicated by steno-aortic insufficiency, mild mitral stenosis, atrial fibrillation, left kidney damage, bilateral glaucoma, left internal jugular vein thrombosis, bronchopneumonia, ...

Sjögren syndrome is a chronic systemic autoimmune disease in which there is an increased risk of developing non-Hodgkin's lymphoma. Neoplastic lung involvement and the coexistence of different histological types of lymphoma are uncommon in these patients. These patients frequently have associated infectious processes, most of them due to oral candidiasis. ...

Sezary syndrome is a rare form of primary cutaneous T cell lymphoma. A male patient of 37 years old was reported with multiple subcutaneous swelling at different parts of the body which were asymptomatic for the last 2 years. But he had persistent generalized itching, induration in skin surface and ...

Therapy-related myelodysplastic syndromes are possible complications in patients treated for previous hematologic malignancies. Therapeutic strategies in these type of disorders are still not well defined: azacitidine has been recently approved for the treatment of higher risk myelodysplastic syndromes, but few data are published relating possible efficacy in therapy-related dysplastic disorders. ...

Primary adrenal lymphoma is rare. It is often bilateral and in most of the cases of B-cell type. The clinical features are various and not specific. We report a case of a 69-year-old woman who had a diffuse large B-cell lymphoma associated with hemophagocytic syndrome. The abdominal imaging reveals the ...

Painful ophthalmoplegia (PO) and concomitant numb chin syndrome (NCS) is a very rare event. There are a few reports in the literature about PO and concomitant NCS that have preceded the diagnosis of a malignancy. In this report, we describe a patient with diffuse large B cell lymphoma who presented ...

Many drugs have been reported to induce the type I Brugada syndrome electrocardiogram (ECG) or arrhythmias in patients with Brugada syndrome. We present the case of a patient in which the type I Brugada ECG pattern was induced by metoclopramide.

Background: Early risk stratification of patients with acute heart failure syndrome (AHFS) can guide the decision to admit the patient to hospital and the choice of therapy. Methods: Standard review methodology using Medline and Google scholar from the years 2006-present. Papers before 2006 were reviewed when necessary. Results: Biomarkers used ...

The interdependence of cardiac and renal dysfunction has emerged as a focus of intense interest in heart failure management due to the substantial associated morbidity and mortality. Captured in the clinical entity known as cardiorenal syndrome, recent definitions afford discussion of the acute and longitudinal evaluation and management of these ...

The Shwachman-Diamond syndrome is an autosomal recessive bone marrow failure syndrome with exocrine pancreatic insufficiency. Additional organ systems, such as the liver, heart and bone, may also be affected. We report a patient with a long history of cardiac failure and diagnosis of dilated cardiomyopathy with intermittent neutropenia. Periodic follow-up ...

To review indications, procedures, and prognosis for common cardiovascular emergencies requiring intervention in small animals. Pericardial effusion, symptomatic bradycardia, and heartworm-induced caval syndrome are examples of clinical scenarios commonly requiring intervention. Pericardial effusion in small animals occurs most frequently from cardiac neoplasia, idiopathic pericarditis, or congestive heart failure. Indications for ...

A 53-year-old female developed epigastric discomfort and back pain in 2007. Diagnostic imaging studies demonstrated a soft tissue tumor with heterogeneous enhancement in the anterior mediastinum and multiple nodules in the right lung. She underwent expanded thymectomy with subtotal resection of the right lung. The pathological diagnosis was primary thymic ...

Neurological deficits associated with methylergometrine have been reported primarily as a result of reversible cerebral vasoconstriction syndromes (RCVS). RCVS are characterized by reversible multifocal vasoconstrictions of the cerebral arteries heralded by acute severe headache with or without neurological deficits. Here, we present the first case of suspected RCVS with transient ...

Aim: To estimate the national prevalence, mortality risk and population mortality burden of metabolic syndrome, and compare the values with those of its individual components. Methods and results: A total of 486,341 apparently healthy adults who went through a screening programme in Taiwan were recruited from 1994 onwards. As of ...

The author has no funding, financial relationships, or conflicts of interest to disclose.

Cardiorenal syndromes were defined and classified recently, but the mechanism of chronic renocardiac syndrome remains disputed. Theories about chronic renocardiac syndrome cannot offer a convincing explanation for it. As a result, the current therapies of chronic renocardiac syndrome do not contribute to a satisfied prognosis. Epoxyeicosatrienoic acids, the products of ...

We report two patients with rare causes of Weber's syndrome and review the relevant literature. The first patient presented with Weber's syndrome caused by a partially thrombosed giant aneurysm of the posterior cerebral artery. The second patient was an immunocompetent patient who presented with progressive hemiparesis and subsequently developed Weber's ...

Prolonged QT syndrome is the most common genetic arrhythmia syndrome, and the majority of patients are undiagnosed. The syndrome is characterized by abnormally long ventricular repolarization (QT interval) on electrocardiogram, which may manifest as syncopal episodes, arrhythmias, or sudden death. Arrhythmias may be precipitated by stress or medications. There are ...

We report a case of a 61-year-old man with a history of CREST syndrome (calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) who presented for evaluation of thrombocytopenia. He had evident cervical adenopathy and lymph node biopsy showed small lymphocytic lymphoma (SLL) with evident systemic adenopathy and bone marrow ...

A 10-year-old female with Williams Syndrome (WS) presented with a two-month history of fatigue, weight loss, and bilateral ovarian masses. Histologic, immunophenotypic, and cytogenetic studies confirmed the diagnosis of Burkitt lymphoma (BL). While there is no established association between the two disorders, this is the third case in the literature ...

Hypereosinophilic syndrome (HES) encompasses both myeloproliferative and lymphoproliferative diseases. We encountered a rare case of lymphocytic HES followed by malignant T cell lymphoma, who was diagnosed as eosinophilic pneumonia upon the first visit. During the clinical course, the transition of the chest CT findings from bilateral multifocal ground-glass opacities and ...

Cutaneous T-cell lymphomas (CTCL) comprise a group of diseases characterized by the accumulation of malignant T cells within the skin. Sezary syndrome represents an aggressive form of CTCL, in which the skin is diffusely affected and the peripheral blood is involved. It is characterized by the triad of generalized erythroderma, ...

[This corrects the article DOI: 10.1136/bcr.01.2011.3712.].

We present a 9-year-old girl who developed acute muscular weakness of proximal muscles of the upper and lower limbs. Investigations revealed a common acute lymphoblastic leukemia. The neuromuscular symptoms are classified as a paraneoplastic neurological syndrome (PNS). Under chemotherapy according to ALL-BFM-2000 protocol symptoms resolved within 4 weeks. This case ...

NF-κB usually has antiapotptic effects and is involved in regulation of cell proliferation and intercellular communication. This is also true for the malignant cells in acute myeloid leukaemia (AML) and myelodysplastic syndromes (MDS), including the malignant stem cells. However, both AML and MDS patients are heterogeneous with regard to the ...

Epidemiological data on myeloid malignancies are very rare in the literature due to a lack of registration by cancer registries until 2000. The Registry of Hematologic Malignancies of the Côte d'Or Department in France has, however, steadfastly registered data on cases occurring in the Department since 1980, resulting, to date, ...

We report the case of a 31-year-old woman with Eisenmenger's syndrome, who gave birth to a healthy baby, and, after Caesarean section, developed severe symptoms of heart failure. After 12 months, the patient was alive and with stable clinical status.

Beckwith-Wiedemann syndrome (BWS) is characterized by an accumulation of multiple congenital anomalies. Although patients with BWS are known to have a higher incidence of embryonal tumors, there has been no reports associated with acute leukemia. This report describes the case of a patient with BWS who developed Acute Megakaryocytic Leukemia ...

A 17-year-old boy, with acute myelomonocytic leukemia and inversion 16(p13q22) developed polyneuropathy and isolated central nervous system relapse. Scoliosis and high-arched feet suggested a diagnosis of Charcot Marie Tooth (CMT) syndrome and genetic testing confirmed duplication at the PMP22 locus at chromosome 17p11.12. No mutation was found in another CMT ...

Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth syndrome associated with an increased risk in childhood tumours. The phenotypic variability in BWS reflects its molecular heterogeneity. This syndrome is a multigenic disorder caused by dysregulation of imprinted growth regulatory genes in the 11p15.5 region. The most commonly reported tumours in this ...

SUMMARY: The 8p11 myeloproliferative syndrome, also known as stem cell leukemia/lymphoma, is a rare, atypical, myeloproliferative disorder and lymphoid malignancy associated with chromosomal abnormalities involving the 8p11 chromosomal band. Translocations associated with this syndrome result in the fusion of the fibroblast growth factor receptor 1 (FGFR 1) gene with various ...

Patients with 47, XXY karyotype (Klinefelter syndrome) appear to have increased risk of developing cancer, especially male breast cancer, germ cell tumours and non Hodgkin lymphomas, but rarely acute myeloid leukaemia. We report a patient with acute basophilic leukaemia with 47, XXY karyotype in both the tumour and constitutional cells. ...

Evaluation of: Barlow JL, Drynan LF, Hewett DR et al. A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome. Nat. Med. 16(1), 59-66 (2010); and Starczynowski DT, Kuchenbauer F, Argiropoulos B et al. Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype. ...

PURPOSE: Myelodysplastic syndrome is a rare childhood clonal hematologic disorder characterized by dysplastic hematopoiesis and progression to leukemia. METHODS: Case report. RESULTS: An 8-year-old boy with low-grade fever, easy fatigability, and pallor of 3 months duration showed pancytopenia with 9% circulating blast cells. The bone marrow aspirate revealed striking trilineage ...

We report the case of a 46-day-old boy with a fulminant vincristine-induced peripheral neuropathy after treatment for congenital acute lymphoblastic leukemia. Flaccid paralysis developed at the end of the first phase of induction, requiring intubation and ventilation for 51 days. Treatment was initiated with levocarnitine, N-acetylcysteine, and pyridoxine and progressive ...

The authors report a 9-year-old boy presenting with a left cerebral ischemic infarction as the first manifestation of acute promyelocytic leukemia. During consolidation chemotherapy, the patient developed nephrotic syndrome and a renal biopsy revealed focal segmental glomerulosclerosis (FSGS). Remission in bone marrow was achieved with chemotherapy, however, new intracranial ischemic ...

Clofarabine has significant efficiency in children with relapsed or refractory leukemia. In previous pediatric trials, various adverse effects have been described. In this case, we report a child with refractory acute lymphoblastic leukemia who developed fatal capillary leak syndrome during clofarabine therapy.

Trisomy of human chromosome 21 (Hsa21) results in Down syndrome (DS), a disorder that affects many aspects of physiology, including hematopoiesis. DS children have greatly increased rates of acute lymphoblastic leukemia and acute megakaryoblastic leukemia (AMKL); DS newborns present with transient myeloproliferative disorder (TMD), a preleukemic form of AMKL. TMD ...

We wanted to determine whether autonomic dysfunction in patients with lymphoma is related to chemotherapy or represent a paraneoplastic syndrome. 40 patients with current or cured Hodgkin or non-Hodgkin lymphoma and 40 healthy controls, matched for age, gender, hypertension and diabetes mellitus underwent autonomic evaluation (Deep Breath, Valsalva Maneuver, Hand ...

The myelodysplastic syndromes (MDS) are clonal bone marrow disorders that lead to underproduction of normal blood cells. The consequent cytopenias result in infections and bleeding complications. MDS transform to acute myeloid leukemia in one-third of patients. The number of diagnoses has exploded in the past decade as a result of ...

Clonal disorders of large granular lymphocytes (LGL) represent a rare spectrum of biologically distinct lymphoproliferative diseases originating either from mature T cells or natural killer cells. Both subtypes can manifest as indolent or aggressive disorders. We report a 77-year-old woman with rheumatoid arthritis, splenomegaly, and neutropenia who developed a painful ...

The syndrome of hyperammonemic encephalopathy occurs in patients who have received high-dose cytoreductive therapy for the treatment of hematologic malignancy. It is characterized by acute alteration in mental status and respiratory alkalosis associated with markedly elevated plasma ammonium levels in the absence of any identifiable cause and frequently results in ...

A 1-year-4-month-old girl who presented with pericardial effusion and superior vena cava (SVC) syndrome caused by a mediastinal mass was later proved to be a case of acute myeloid leukemia (AML) with mixed-lineage leukemia-gene translocation. The unusual presentation and the giant blasts with basophilic vacuolated cytoplasm had led to initial ...