1/29. Type Ib glycogenosis.Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
2/29. glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.glycogen storage disease type 1a (GSD 1a) is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase). A variant (GSD 1b) is caused by a defect in the transport of glucose-6-phosphate (G6P) into the microsome and is associated with chronic neutropenia and neutrophil dysfunction. Mutually exclusive mutations in the G6Pase gene and the G6P transport gene establish GSD la and GSD 1b as independent molecular processes and are consistent with a multicomponent translocase catalytic model. A modified translocase/catalytic unit model based on biochemical data in a G6Pase knockout mouse has also been proposed for G6Pase catalysis. This model suggests coupling of G6Pase activity and G6P transport. A 5-mo-old girl with hypoglycemia, hepatomegaly, and lactic acidemia was diagnosed with GSD 1a. She also developed neutropenia, neutrophil dysfunction, and recurrent infections characteristic of GSD 1b. Homozygous G188R mutations of the G6Pase gene were identified, but no mutations in the G6P translocase gene were found. We have subsequently identified a sibling and two unrelated patients with similar genotypic/phenotypic characteristics. The unusual association of neutrophil abnormalities in patients with homozygous G188R mutations in the G6Pase gene supports a modified translocase/catalytic unit model.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
3/29. Inflammatory bowel disease-like colitis in glycogen storage disease type 1b.Chronic inflammatory bowel disease (IBD)-like colitis is occasionally associated with glycogen storage disease-type 1b (GSD-1b). We describe a 17-year old boy with GSD-1b who developed an IBD-like colitis. Roentgenography and colonoscopy showed the lead-pipe appearance of the colon and circumferential ulcers. Histopathologic examination revealed nonspecific inflammation without granulomatous lesions. High-dose granulocyte-colony stimulating factor (G-CSF) and sulfasalazine led to the resolution of the colitis, although neutropenia continued. Besides this case, 10 published cases of GSD-1b and IBD-like colitis were reviewed. All cases had severe neutropenia and/or neutrophil dysfunction. The mean onset of bowel disease was 12.3 years of age. Seven cases required surgical treatment. All five patients with G-CSF/GM-CSF therapy showed clinical remission. These findings suggest that IBD-like colitis is a grave complication of GSD-1b and that recurrent enteric infections due to neutrophil deficiency may contribute to the development of this bowel disease.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
4/29. Neutrophil adherence receptor deficiency regressing with granulocyte-colony stimulating factor therapy in a case of glycogen storage disease type Ib.neutrophils from patients suffering from glycogen storage disease type Ib (GSD-Ib) show marked functional deficiencies (chemotaxis, respiratory burst, and phagocytosis). Here we describe neutrophil adherence receptor (l-selectin CD62L and beta2 integrins CD11b/CD18) deficiency in a patient with genotype of GSD-Ib, who presented with recurrent infections, diminished neutrophil count and impaired functions. Treatment with granulocyte-colony stimulating factor (G-CSF) had a beneficial effect on the infectious status, the enhancement of phagocytosis and the regression of the adherence receptor defect. CONCLUSION: this is the first observation of a patient with glycogen storage disease type Ib with a deficiency in leucocyte adherence receptor expression, which regressed with growth factor therapy. It underlines the potential role of these receptors in the genesis of recurrent infections which occur in patients with this disease.- - - - - - - - - - ranking = 2keywords = infection (Clic here for more details about this article) |
5/29. Acute rheumatic fever in a patient with glycogen storage disease type Ib: causal or coincidental simultaneous occurrence?We report a Caucasian female who was diagnosed with glycogen storage disease type Ib (GSD-Ib) at the age of 4 months and whose clinical course was complicated by neutropenia and very frequent episodes of infection, including tonsillopharyngitis. Recurrent group A streptococcal infections resulted in multiple episodes of extremely high serum levels of antibodies to streptolysin O (5,000 IU/ml) and DNAse B (6,000 IU/ ml). At the age of 14 years she presented with carditis, migratory arthritis, fever, elevated erythrocyte sedimentation rate as well as serological evidence for recent streptococcal infection providing a diagnosis of acute rheumatic fever. CONCLUSION: the occurrence of these two very rare disorders in our patient may indicate that this association is not coincidental because neutrophil dysfunction in glycogen storage disease type Ib may have predisposed this patient to acute rheumatic fever due to increased susceptibility to group A streptococcal infections. aberrant glycogenolysis and gluconeogenesis, neutropenia and neutrophil dysfunction are regular findings in GSD-Ib. neutropenia and neutrophil dysfunction in patients with GSD-Ib are due to defects in myeloid maturation, impaired neutrophil motility, defective chemotaxis and phagocytosis and diminished bactericidal activity resulting in recurrent bacterial infections.- - - - - - - - - - ranking = 170.40684348948keywords = bacterial infection, infection (Clic here for more details about this article) |
6/29. Acute myelogenous leukemia and glycogen storage disease 1b.glycogen storage disease 1b (GSD 1b) is caused by a deficiency of glucose-6-phosphate translocase and the intracellular accumulation of glycogen. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, lactic acidosis, as well as neutropenia causing increased susceptibility to pyogenic infections. We present a case of a young woman with GSD 1b who developed acute myelogenous leukemia while on long-term granulocyte colony-stimulating factor therapy. The presence of two rare diseases in a single patient raises suspicion that GSD 1b and acute myelogenous leukemia are linked. Surveillance for acute myelogenous leukemia should become part of the long-term follow-up for GSD 1b.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
7/29. The benefits of liver transplantation in glycogenosis type Ib.There are few reports of liver transplantation in glycogenosis type Ib (GSD Ib). We present two cases who had dramatic catch-up growth and reduced infections after transplantation, despite persistent neutropenia.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
8/29. Unusual oral manifestations and evolution in glycogen storage disease type Ib.glycogen storage disease type Ib is a rare inherited metabolic disorder that is caused by a deficiency of glucose-6-phosphate translocase with consequent accumulation of glycogen. The purpose of this study is to report a case affected by glycogen storage disease type Ib in which unusual oral findings were evident and to review the pertinent literature. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, hyperlacticacidemia, neutropenia, and neutrophilic dysfunction causing increased susceptibility to recurrent infections. Common intraoral manifestations are dental caries, gingivitis, periodontal disease, delayed dental maturation and eruption, oral bleeding diathesis, and oral ulcers. Conversely, unusual oral lesions were observed in this case as hyperplastic-hypertrophic gingiva and giant cell granulomatous epulis. The treatment with granulocyte colony-stimulating factor markedly increased the neutrophil counts and reduced the frequency of infections and inflammations. Proper evaluation of the patient's oral condition, a program of preventive measures, and suitable medical consultation are important to minimize and avoid long-term complications.- - - - - - - - - - ranking = 2keywords = infection (Clic here for more details about this article) |
9/29. A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
10/29. granulocyte colony-stimulating factor corrects the neutropenia associated with glycogen storage disease type Ib.A young woman with glycogen storage disease, type Ib, and chronic neutropenia had severe recurrent infections. In a life-threatening situation, treatment with granulocyte colony-stimulating factor (G-CSF) resulted in the prompt correction of neutropenia. Subsequently, daily G-CSF therapy has allowed the maintenance of a normal neutrophil count and marked clinical improvement over a period of 18 months. The spectrum of neutropenic conditions which are responsive to G-CSF should include this inherited metabolic disorder.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
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