glycogen storage disease/diarrea

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Association of glycogen storage disease 1b and Crohn disease: results of a North American survey.

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Glycogen storage disease (GSD)-1b has been associated with neutropenia and abnormalities of neutrophil function. Many individuals with GSD-1b manifest chronic gastrointestinal inflammation. Our study was performed to precisely establish the type, frequency, and spectrum of gastrointestinal disease

Lack of effect of lithium carbonate in patients with glycogenosis Ib.

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Lithium carbonate has been observed to induce neutrophilia in psychiatric patients and has been used in a number of childhood neutropenic disorders. We tried lithium carbonate in three children with glycogenosis Ib to see if the drug would alleviate the neutropenic complications of the disorder.

[Hepatic glycogenosis in childhood: clinical and laboratory findings in 20 patients].

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We studied 20 children with a clinical picture and laboratory study suggestive of hepatic glycogenosis. The age of the beginning of symptoms varied from birth to 24 months and the age at the diagnosis varied from 2 to 81 months. Hepatomegaly was found in all patients, diarrhea in 65% (13/26),

Type I glycogen storage disease: nine years of management with cornstarch.

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Long-term effects of cornstarch (CS) therapy on biochemical values and physical growth in children with type I glycogen storage disease (GSD I) were compared to those of children receiving continuous nocturnal nasogastric glucose feedings (CNG). Only patients who had received more than 5 years of

Mauriac Syndrome: A Rare Hepatic Glycogenosis in Poorly Controlled Type 1 Diabetes.

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Hepatic glycogenosis (HG) is a complication of poorly controlled type 1 diabetes mellitus (T1DM), characterized by glycogen accumulation in hepatocytes. Mauriac syndrome (MS) is a glycogenic hepatopathy, initially described in 1930, characterized by growth failure, delayed puberty,

Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count.

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Inflammatory bowel disease (IBD)-like colitis is a known entity in glycogen storage disease (GSD) type 1b patients. The mean age of the reported cases with IBD-like colitis was 12 +/- 5 years, and all had absolute neutrophil count (ANC) less than 1,000 cells/microl. We report a three-year-old girl

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.

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OBJECTIVE To investigate the incidence, the severity, and the course of neutropenia, neutrophil dysfunction, and inflammatory bowel disease (IBD) in glycogen storage disease (GSD) type Ib. METHODS As part of a collaborative European Study on GSD type I, a retrospective registry was established in 12

Barium enema findings in type I hepatorenal glycogen storage disease.

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Four children with Type I hepatorenal glycogen storage have been studied by barium enema. All showed strikingly similar changes of a smooth-walled, slightly narrow but normal length colon without any haustration. The findings simulated colitis but the patients had either mild diarrhea or no

[Clinical studies of pediatric malabsorption syndromes].

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Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the

Tumorigenic Potential of Granulocyte Colony-Stimulating Factor Therapy-A Case Report and Review of Literature

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An association between granulocyte colony-stimulating factor therapy (G-CSFT) in patients with glycogen storage disease type Ib (GSDIb) and the development of giant cell lesions of the maxillofacial complex has emerged. We have reported, to the best of our knowledge, the fourth case of giant cell

[A case of acute renal failure secondary to late-onset McArdle's disease].

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BACKGROUND Mc Ardles disease, also known as Type V glycogen storage disease, is a rare deficiency of the enzyme glycogen phosphorylase in muscle cells, inherited as an autosomal recessive trait. In the absence of this enzyme, muscles cannot break down glycogen during exercise, so in patients

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