We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill-defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non-lymphocytic ...

High-dose cytosine arabinoside may benefit patients with refractory acute leukemia. Peripheral nervous system disturbances caused by cytosine arabinoside have rarely been reported. We describe a patient with acute leukemia who developed Horner's syndrome and a severe demyelinating peripheral neuropathy leading to death after receiving high-dose cytosine arabinoside. Peripheral nerve dysfunction ...

We have described an 82-year-old man with HCL who had autoimmune manifestations, paraproteinemia, and cryoglobulinemia. Chemotherapy resulted in a dramatic response, with a decrease in the tumor mass, a reduction in the clinical and serologic features of the autoimmune syndrome, and disappearance of the cryoglobulin, but without a significant change ...

We report a 64-year-old woman with chronic myelogenous leukemia of 3 years duration who developed Sweet syndrome. Improvement in her blood counts after hydroxyurea was not associated with a decrease in size of the skin lesions. However, the cutaneous lesions of Sweet syndrome quickly resolved with systemic prednisone. Sweet syndrome ...

This paper reports an interesting case of myelodysplastic syndrome (MDS), whose bone marrow karyotype at diagnosis was 46, XY, t(16;17) (q12;q25). Fourteen months later, the disease transformed into erythroleukemia, and several correlative clones with hyperdiploid appeared at the same time. Thus, we consider that detecting karyotypic evolution may help evaluate ...

Erythromelalgia, which is specific for primary thrombocythaemia or polycythaemia with thrombocythaemia, is reported in a case of primary myelofibrosis at platelet counts of between 350 and 450 X 10(9)/l. In addition, the unexpected occurrence of thrombocythaemic erythromelalgia associated with Ph1 chromosome positive micromegakaryocytic myelofibrosis and with myelodysplastic syndrome type II ...

Here we report 3 cases of trisomy 11 observed in 1 patient with secondary acute myeloblastic leukaemia and in 2 patients with spontaneous acute myeloblastic leukaemia. In all 3 patients, the picture of overt acute leukaemia arose following a clinically established myelodysplastic syndrome. These findings, together with the previously reported ...

The myelodysplastic syndromes are a heterogeneous group of hematopoietic stem cell disorders characterized by dysplastic and ineffective hematopoiesis and a varying risk of transformation to acute leukemia. Although the natural history of these syndromes is variable, several factors appear to be of prognostic importance, including the French-American-British classification, the karyotype, ...

Clinical features, prognosis and factors influencing survival, as well as long-term evolution of the disease were analyzed in 130 patients with myelodysplastic syndromes (MDS) with particular reference to the refractory anemia with excess of blasts (RAEB). Survival of patients with 3 FAB subtypes, RAEB, RAEB in transformation (RAEB-T) and chronic ...

The pre-leukaemic state includes a variety of haematological conditions which in some patients precede the onset of acute leukaemia. These abnormalities may be primary or secondary to a known genetic insult. In some cases the condition may be associated with one of the constitutional syndromes characterised by genetic instability. The ...

A 41 year old female developed reactive haemophagocytic histiocytosis secondary to herpes simplex infection, during remission induction for acute lymphoblastic leukaemia. She recovered fully with acyclovir and supportive treatment. Previous publications on the association between acute lymphoblastic leukaemia and haemophagocytic syndrome are reviewed, and the nature of the haemophagocytic disorder ...

We have reported the first case of the Eaton-Lambert syndrome associated with leukemia in an adult, a 74-year-old woman with acute T cell lymphocytic leukemia and a mediastinal mass accompanied by weakness of the upper and lower extremities and pain in the lower extremities. Electromyographic studies were diagnostic of the ...

Bloom's syndrome is one of the congenital disorders known to have increased frequency of acute leukaemia. The complex cytogenetic findings in the leukaemic cells of a 39-year-old male with Bloom's syndrome are described. These included a translocation t(7;17), missing 7q and 17p, a reciprocal translocation t(4;22); del 3q, del 8q22, ...

Nonmalignant causes of Pancoast's syndrome are extremely rare. The authors report the case of a 32-year-old man, receiving treatment for acute lymphoblastic leukemia, who had a clinical picture resembling that of Pancoast's syndrome. Invasive mucormycosis was diagnosed as the cause of the syndrome at emergency thoracotomy undertaken to control massive ...

A case of acute nonlymphocytic leukemia with a new translocation, t(2;7)(p13;q36), as the sole karyotypic abnormality is reported. The patient's leukemia evolved from a cytogenetically normal myelodysplastic syndrome of 4 years' duration. Following treatment the patient entered complete remission with loss of the cytogenetically abnormal clone. Subsequent bone marrow analyses ...

Different and unrelated chromosome changes were found to occur in a patient with a myelodysplastic syndrome with rapid evolution to acute nonlymphocytic leukemia. A 6p anomaly was found during the chronic phase and a del(9q) characterized the cells in the leukemic phase. Deletions with a breakpoint in 9q31 appeared to ...

Atrophie blanche is a syndrome of painful vasculitic infarctive lesions of the lower extremities that heal leaving characteristic atrophic, porcelain white scars. The syndrome may occur as an idiopathic entity or associated with various hematologic and collagen vascular disorders. We present the first recognized case of atrophie blanche in a ...

The causalgic form of the postphlebitic syndrome or reflex sympathetic dystrophy resulting from acute deep thrombophlebitis is a relatively uncommon and, unfortunately, frequently unrecognized form of the postphlebitic syndrome. The usual signs of venous insufficiency are minimal, but severe burning pain is characteristic, usually increased by dependency. The diagnosis is ...

In a retrospective study of 96 patients with a myelodysplastic syndrome, the reproducibility of the French-American-British (FAB) classification was determined. Morphological abnormalities in peripheral blood and bone marrow were studied. Slides were reviewed by 3 examiners. All 3 observers agreed on morphological classification in 61% of cases, pairs of 2 ...

We report a case of 5q- syndrome that progressed to acute nonlymphocytic leukemia after 9 years of clinically and morphologically stable disease. The transition from the chronic to the leukemic phase was characterized by the appearance of an additional cytogenetic anomaly [inv(2)] in the cell carrying the 5q-, together with ...

Flow cytometry (FCM) for the determination of cellular DNA content was performed on multiple bone marrow biopsy specimens from a 3-year-old boy with Down's syndrome and myelofibrosis. A rapidly fatal acute nonlymphocytic leukemia developed within 3 months after initial bone marrow evaluation. The clinical and morphologic changes corresponded to the ...

Neutrophils and band forms from patients with acute myeloid leukemia and myelodysplastic syndrome were stained for the presence of myeloperoxidase using a cytochemical method (diaminobenzidine/hydrogen peroxide) and the alkaline phosphatase--anti-alkaline phosphatase immunocytochemical procedure (using monoclonal anti-myeloperoxidase). Neutrophils and bands were also stained for elastase and lactoferrin using monoclonal and polyclonal ...

A 64-year-old man was found to have a hemolytic anemia with a hematocrit of 0.28 (28%) during a routine evaluation. One month before this his hematocrit had been normal. Further studies revealed a myelodysplastic syndrome and acquired hemoglobin H disease. Eighteen months later this transformed into acute megakaryoblastic leukemia with ...

Bone marrow sections from 44 cats with myelodysplastic syndrome (MDS) or acute myelogenous leukemia (AML) were graded for reticulin content using light microscopic methods. Twenty-seven (61%) of the cats had slight to marked reticulin myelofibrosis. The association of myelofibrosis with possible pathogenetic factors, including megakaryocyte count, intramedullary lymphoid follicles, hemosiderin ...

We report on 12 patients who fulfilled the FAB diagnosis criteria of chronic myelomonocytic leukemia (CMML). Some clinical findings (splenomegaly) as well as biological parameters (WBC count, cellularity of bone marrow sections, presence of dyserythropoiesis in bone marrow smears) were subjected to particular analysis. This allowed the assignment of each ...

We prospectively studied 34 patients with clinical and radiologic evidence of rostral basilar artery syndrome, a vaso-occlusive disorder, who had uniformly excellent short-term functional recovery, in marked contrast to the classic syndrome. All patients displayed important neurobehavioral disturbances, including an acute confusional state, necessitating medical consultation. The composite group had ...

Twenty-five patients with leukemia and dysmyelopoietic syndrome underwent serial cytogenetic analysis during the course of their disease. All 21 patients with leukemia had improvement or disappearance of karyotypic abnormalities with effective treatment of their leukemia, and karyotypic progression was observed only in instances of recurrent or progressive leukemia. All four ...

Human T-lymphotropic virus type I (HTLV-I) has been associated with adult T-cell leukemia/lymphoma (ATL), a malignancy of mature CD4-positive lymphocytes, and with tropical spastic paraparesis (TSP), a demyelinating neurological syndrome. This article describes the clinical and pathological features of ATL and reviews the epidemiology of this disease and of its ...

Visual loss in birdshot retinochoroidopathy has been reported to be produced by cystoid macular edema, optic atrophy, epiretinal macular membranes and subretinal neovascularization. We present a patient with this syndrome in whom the visual loss was due to an acute anterior ischemic optic neuropathy. The possible common pathogenesis of both ...

Myelopathy is a common consequence of cervical spondylosis. Typically, the syndrome develops gradually over a long period. Rapidly progressive deterioration in the absence of trauma or other precipitating factors is exceptional. We report a case of a rapidly progressive acute myelopathy secondary to cervical spondylosis without identifiable precipitating cause. The ...

There have been several reports of the association between Down's Syndrome and acute megakaryoblastic (M7) leukemia (AMKL). The diagnosis of this rare form of leukemia has been better delineated by the use of the platelet peroxidase reaction and the antifactor VIII antibody immunoperoxidase test. In the past, the prognosis of ...

A young man is reported with an autoimmune polyglandular syndrome (APS) characterized by Addison's disease, primary hypothyroidism, primary hypogonadism, vitiligo, associated with primary empty sella and partial impairment of pituitary hormone secretion. Two years later the patient showed a null cell type acute lymphocytic leukaemia, immediately after surgery for an ...

Acute megakaryocytic leukemia is a rare form of acute nonlymphocytic leukemia that occurs with increased frequency in patients with Down's syndrome. Herein, we report a child with Down's syndrome who presented with a large retroperitoneal mass due to acute megakaryocytic leukemia. Immunohistochemical stains of the tumor cells also demonstrated evidence ...

Richter syndrome is an uncommon complication of chronic lymphocytic leukemia characterized by its transformation into diffuse histiocytic lymphoma. We present two documented cases of Richter syndrome and its radiographic manifestations, which have not previously been reported. These include hepatosplenomegaly, diffuse marked adenopathy, and involvement of the skeletal system. The diagnosis ...

The marriage of cytogenetics and molecular biology has resulted in major advances in our understanding of acute nonlymphocytic leukemia. These technologies reveal a number of clearly recognizable syndromes of acute nonlymphocytic leukemia. This review describes the salient features of several of these syndromes: acute myelomonocytic leukemia with abnormal eosinophils; acute ...

The association of Down's syndrome and leukemia has been documented for over 50 years. Multiple studies have established the incidence of leukemia in Down's syndrome patients to be 10- to 20-fold higher than that in the general population. The age of onset for leukemia in these children is bimodal, peaking ...

Infants with Down's syndrome have an increased incidence of acute nonlymphocytic leukemia (ANLL). They are also at risk of developing a transient myeloproliferative syndrome indistinguishable from ANLL except by its eventual clinical recovery. The authors studied five infants with Down's syndrome and leukocytosis with circulating blast forms in their peripheral ...

A 3 1/2-yr-old boy with acute leukemia rapidly developed quadriparesis during induction treatment that included vincristine. Accompanying the paralysis, spinal fluid protein was increased. This has not previously been associated with vincristine neuropathy. In addition to leukemia, we suggest that the patient had the Guillain-Barré syndrome, potentiating the neurotoxicity of ...

Richter's syndrome is the development of an aggressive diffuse lymphoma in chronic lymphatic leukemia (CLL) and is associated with a poor prognosis. A patient with CLL developed Richter's syndrome, which responded to intensive chemotherapy. Spontaneous regression of CLL in blood and marrow was observed at the onset of Richter's syndrome. ...

The myelodysplastic syndromes constitute a fascinating model for monoclonal premalignant disorders. Haemopoiesis is 'dysplastic' with inefficient maturation of a slowly expanding or sometimes of a stable population, of blood cell precursors. About one third of the patients evolve into acute leukaemia, the result of either a progressive expansion of the ...

The myelodysplastic syndromes (MDS) represent a group of syndromes having in common a defective production of one or more myeloid cell lines. They occur in patients which are more than 50 years old without any sex preponderance. The term MDS is replacing the obsolete and archaic term of 'preleukemia' and/or ...

The myeloproliferative sarcoma virus (MPSV) induces a murine myeloproliferative syndrome characterized by an erythromyelemia, an anemia, a thrombocytopenia associated with a myeloproliferation in the spleen and a splenic and medullar fibrosis. We have used the in-vitro plasma clot technique to measure megakaryocytic precursors in the spleen and bone-marrow of MPSV-infected ...

Cytogenetic analysis from the bone marrow of a patient with a myelodysplastic syndrome revealed the balanced translocation t(3;5)(q21;q31). Although this translocation has recently been described in six cases of AML, this is the first such observation in a preleukaemic syndrome. Subsequent evolution into RAEB and AML(M2) was noted without the ...

Megakaryoblastic leukemia and transient leukemia in Down's syndrome have been reviewed using case reports from the literature and our own experience at the Hospital for Sick Children. The following conclusions have been reached: (1) approximately 20% of leukemia (excluding transient leukemia) in Down's syndrome is acute megakaryoblastic leukemia; (2) approximately ...

In vitro differentiating agents causing little bone marrow aplasia have been proposed as a specific therapy of myelodysplastic syndromes with excess of blasts. A critical review of the published data is presented. The preliminary results of a cooperative protocol using very low dosage of cytosine arabinoside (3mg/m2/twice daily) with or ...

Tumour lysis syndrome, manifested by various metabolic derangements, is a known complication after treatment of some lymphoid malignancies. A patient is reported with acute lymphocytic leukaemia who developed a tumour lysis syndrome following intensive chemotherapy. All the known complications of the syndrome were present in the most severe form--hyperuricaemia of ...

The myelodysplastic syndromes (MDS) constitute a heterogeneous group of clonal disorders arising from a multipotent haemopoietic progenitor which share a leukaemic propensity, 30% of cases culminating in acute myeloid leukaemia (AML). Their pathogenesis probably entails multiple steps, phenotypic progression being determined by either expansion or evolution of the abnormal clone. ...

Reiter's syndrome and other reactive arthritides have been described following infection with various organisms although they can occur in unusual circumstances without an obvious infectious precipitant. We have recently witnessed two attacks of reactive arthritis and keratoderma blenorrhagica occurring in an HLA B27 adult male following chemotherapy on two separate ...

Acute myeloblastic leukemia occurs as a complication of myelodysplastic syndromes, but the appearance of an acute lymphoblastic leukemia (ALL) has only been reported once. We describe a case in which lymphoblastic transformation occurred in the setting of a dysmyelopoietic syndrome. This leukemia was characterized by lymphoid morphology, terminal deoxynucleotidyl transferase ...

To investigate the kind of morphological dysplastic changes important in the diagnosis of myelodysplastic syndrome (MDS), we examined 50 patients with MDS and 86 control subjects. Micromegakaryocytes and pseudo-Pelger-Huët anomalies were detected in 46 patients (92%) with MDS, and were also found in the differentiated types of acute myeloid leukaemia ...