1/67. Acquired perforating dermatosis in diabetes mellitus: an unusual case.A case of elastosis perforans serpiginosa in a patient who presented with insulin-dependent diabetes mellitus secondary to pancreatic insufficiency in a background of common variable immunodeficiency and endocrinopathy, as evidenced by pernicious anaemia and growth hormone deficiency, is described. In acquired perforating dermatosis occurring in patients with diabetes or renal failure, there is a spectrum of changes that may show an overlap of histological features of the four classic perforating diseases. The biopsy changes of the patient described in the present study most closely resembled those of elastosis perforans serpiginosa.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
2/67. Approaching the patient with chronic malabsorption syndrome.The causes of chronic malabsorption may be categorized as decreased intestinal absorption, most commonly caused by celiac sprue; or maldigestion caused by pancreatic insufficiency. The initial step in the evaluation of these patients should include stool studies to confirm fat malabsorption. If fat malabsorption is confirmed, endoscopy with small-bowel biopsies and aspirates for bacterial culture usually follows. A normal endoscopic examination should lead to assessment of pancreatic function. In the setting of normal pancreatic function and the absence of bile acid deficiency, a barium radiograph of the small bowel should be made, looking for anatomical abnormalities. Celiac sprue is an intolerance to gluten caused by a combination of genetic, environmental, and immunologic factors. It classically causes malabsorption. However, it is likely that many patients who exhibit only minor manifestations of the disease go unrecognized and untreated. A presumed diagnosis of celiac sprue is confirmed after a clinical and endoscopic response to a gluten-free diet. Serological markers are available with high degrees of sensitivity and specificity, but duodenal biopsy remains the gold standard for diagnosis. A minority of patients are unresponsive to a gluten-free diet, and intestinal lymphoma should be suspected in these cases.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
3/67. Shwachman-diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis.Shwachman-diamond syndrome (SDS) is an autosomal recessive disorder characterised by exocrine pancreas insufficiency, metaphyseal dysostosis and bone marrow dysfunction. Recurrent severe bacterial infections and susceptibility to leukaemia are the major causes of morbidity and mortality occurring preferentially in patients with pancytopenia and features of myelodysplasia. Here we report a patient with SDS leading to recurrent bacterial infections and a deteriorating condition since early infancy. Extensive investigations disclosed severe pancytopenia, myelodysplasia and a clonal cytogenetic abnormality, inv(14)(q11q32), as risk factors of leukaemic transformation. He therefore underwent allogeneic geno-identical bone marrow transplantation which resulted in correction of all haematological and immunological abnormalities within an 18-month follow up period.Conclusion bone marrow transplantation may be considered early as a valuable treatment option especially in high risk Schwachman-diamond syndrome patients anticipating malignant transformation, life-threatening severe infections or further organ damage.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
4/67. Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia.The myelodysplastic syndromes (MDS) are a group of hematologic disorders commonly affecting elderly persons and often leading to acute myelogenous leukemia (AML). Although rare in children, when MDS does occur, it is frequently part of a congenital disorder such as Shwachman-diamond syndrome (SDS). monosomy 7 and/or deletion of part or all of 7q are poor prognostic signs in MDS and AML, although the pathophysiologic relationship between this finding and MDS or AML is unclear. Shwachman-diamond syndrome is an inherited illness characterized by exocrine pancreatic insufficiency and by congenital neutropenia. patients with SDS are at increased risk of developing myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). Because monosomy 7 is a poor prognostic sign in MDS and AML, establishing its presence is important. However, different methods of detection of monosomy 7 may lead to different results in some patients. We present the case of a 10-year-old girl known to have SDS, who had a bone marrow aspiration and biopsy done to rule out MDS and AML. By light microscopy, the patient's bone marrow was unremarkable. GTG-banding showed the following karyotype: 45,XX,-C[3]/47,XX, C[1]/46,XX[45]. fluorescence in situ hybridization (FISH) was performed with a chromosome 7-specific alpha-satellite probe (D7Z1). Almost all (373 of 376) cells exhibited only one chromosome 7 signal. A second marrow aspiration done 6 months later showed an essentially normal karyotype by GTG-banding. fluorescence in situ hybridization with the same chromosome 7 probe showed 230 of 250 cells to be monosomic for chromosome 7. A whole chromosome 7 painting probe demonstrated disomy for chromosome 7 in 90 of 90 cells; however, subtle heteromorphism in the centromeric regions of the 2 copies of chromosome 7 was noted in some cells. This case demonstrates that FISH and GTG-banding can give discordant results, that the two should be viewed as complementary technologies, and that both have a place in a full karyotypic analysis. Furthermore, this case demonstrates for the first time that heteromorphism and/or subtle structural abnormalities of chromosome 7, previously associated with MDS and AML, can exist without clinical or morphologic signs of these illnesses. It will be of interest to further study the relationship, if any, between SDS and various structural abnormalities of chromosome 7 in MDS and AML, and to elucidate the molecular mechanisms of pathogenesis, physiology, and treatment of these disorders.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
5/67. Emergence of an unusual bone marrow precursor B-cell population in fatal Shwachman-diamond syndrome.The Shwachman-diamond syndrome (SDS) is a rare congenital disorder for which inheritance by an autosomal recessive trait has been suggested. Shwachman-diamond syndrome is defined by exocrine pancreatic insufficiency combined with severe neutropenia. Moreover, SDS patients are at risk to develop neoplastic hematologic diseases. We describe 2 SDS-affected daughters of consanguine parents who were born 1 year apart, at 35 and 36 weeks of gestation, and who died at the age of 4 and 3.5 months, respectively, due to respiratory infections. Histologic bone marrow evaluation of the second-born child revealed a diffuse proliferation of immature B cells, which comprised 40% of the total cellularity. These cells were identified as precursor B cells by immunophenotyping studies (CD79a( )/CD10( )/CD20(-)/CD22(-)/CD34(-)/ terminal deoxynucleotidyl transferase(-)). Molecular determination of the immunoglobulin heavy-chain gene status did not reveal clonality. The emergence of this peculiar B-cell population was interpreted as a marked increase of hematogones. Although the clinical significance and the exact function of hematogones is still obscure, they may play a critical regenerative role in the regulation of hemopoiesis, but without malignant potential in SDS. immunophenotyping and molecular studies, therefore, have potential value in the differential diagnosis of primary bone marrow failures. This report adds SDS to the spectrum of conditions in which a prominent number of hematogones may be observed.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
6/67. Schwachman-diamond syndrome. A case report.Schwachman-diamond syndrome is an autosomal recessive disorder consisting of exocrine pancreatic insufficiency and neutropenia. The typical pathological finding with this syndrome is fatty infiltration in the pancreas of patients. We report a case of Scwachman-diamond syndrome examined with abdominal ultrasonography, CT and radiography.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
7/67. A case of chronic pancreatic insufficiency due to valproic acid in a child.A 14-year-old child treated with valproic acid over several years for a seizure disorder developed abdominal pain with radiological evidence of acute pancreatitis. The association with valproic acid was not recognized, and the child continued to take the drug. The patient eventually developed steatorrhea and weight loss that improved with pancreatic enzyme replacement. Radiological evaluation showed an atrophic pancreas. Without evidence of other etiological factors, valproic acid by itself appeared to be the cause of chronic pancreatitis with exocrine pancreatic insufficiency in this patient.- - - - - - - - - - ranking = 5keywords = insufficiency (Clic here for more details about this article) |
8/67. Successful unrelated bone marrow transplantation for Shwachman-diamond syndrome.A 5-year-old boy with Shwachman-diamond syndrome underwent unrelated HLA-identical bone marrow transplantation for severe pancytopenia. Conditioning was with busulfan, thiotepa and cyclophosphamide plus rabbit anti-lymphocyte serum. Engraftment for neutrophils and platelets was observed on days 18 and 41, respectively. Transplant-related side-effects were mild and transient. After a follow-up of 32 months, the patient is alive and enjoys a normal life, off any immunosuppressives. Immunological and hematological reconstitution is complete while other phenotypic characteristics (pancreatic insufficiency, short stature, femur dysostosis) are stable. Although experience in this field is scarce, we speculate that bone marrow failure in Shwachman-diamond syndrome (even if not linked to the appearance of clonal disorders or leukemic transformation) is an indication for bone marrow transplantation and may be associated with a better outcome.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
9/67. adult-onset nesidioblastosis causing hypoglycemia: an important clinical entity and continuing treatment dilemma.HYPOTHESIS: nesidioblastosis is an important cause of adult hyperinsulinemic hypoglycemia, and control of this disorder can often be obtained with a 70% distal pancreatectomy. DESIGN: The records of all adult patients operated on for hypoglycemia between 1974 and 1999 were reviewed retrospectively. patients with the pathologic diagnosis of nesidioblastosis were contacted for follow-up (1.5-21 years) and are presented. patients' results were compared with those of 36 other individuals with this disorder who were previously reported in the literature. SETTING: The University of chicago Medical Center (chicago, Ill), a tertiary care facility. patients: A consecutive sample of all patients operated on for hypoglycemia. INTERVENTIONS: Seventy percent distal pancreatectomy for all patients with nesidioblastosis, and maintenance therapy with verapamil hydrochloride for 2 patients. MAIN OUTCOME MEASURES: achievement of normoglycemia with and without medication, development of insulin-dependent diabetes mellitus, pancreatic exocrine insufficiency, and need for reoperation. RESULTS: Of 32 adult patients who underwent surgical exploration for hyperinsulinemic hypoglycemia at our institution, 27 (84%) were found to have 1 or more insulinomas, and 5 (16%) were diagnosed with nesidioblastosis. Each patient with nesidioblastosis underwent a 70% distal pancreatectomy. Follow-up duration for the 5 patients ranged from 1.5 to 21 years, with 3 patients (60%) asymptomatic and taking no medications, and 2 patients (40%) experiencing some recurrences of hypoglycemia. The 2 patients with recurrences are now successfully treated with a calcium channel blocker, an approach, to our knowledge, never before reported for adult-onset nesidioblastosis. CONCLUSIONS: nesidioblastosis is an uncommon but clinically important cause of hypoglycemia in the adult population, and must always be considered in a patient with a presumptive preoperative diagnosis of insulinoma. This study indicates that a 70% distal pancreatectomy is often successful in controlling hypoglycemia, and rarely results in diabetes mellitus. However, the optimal treatment of this disorder remains to be determined.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
10/67. Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-diamond syndrome.Shwachman-diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction. patients with SDS have varying degrees of marrow aplasia, which can be severe or progress to leukemic transformation. While allogeneic hematopoietic stem cell transplantation (HSCT) can be curative for the hematologic disturbances of SDS, a recent review of the literature reveals few survivors. Poor outcome with HSCT is often related to excessive cardiac and other organ toxicity from transplant preparative therapy. We describe two young children with SDS who developed aplastic anemia and subsequently underwent successful allografting using a non-cardiotoxic conditioning regimen. Case 1 received marrow from an HLA-identical sibling while case 2 received partially matched umbilical cord blood from an unrelated donor. Both patients are presently alive and well with sustained donor engraftment and excellent hematopoietic function at 36 and 22 months post-HSCT.- - - - - - - - - - ranking = 1keywords = insufficiency (Clic here for more details about this article) |
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