glycogen storage disease/karščiavimas

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Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.

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Glycogenosis type 2 is an autosomal recessive glycogen storage disorder caused by deficiency of lysosomal acid alpha-glucosidase. Different phenotypes are recognized. The authors describe two children affected by the late infantile form; both presented terminal hyperthermia not caused by infections.

Acute rheumatic fever in a patient with glycogen storage disease type Ib: causal or coincidental simultaneous occurrence?

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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

Hyperthermia and ketoacidosis during anesthesia in a child with glycogen-storage disease.

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Acute myelogenous leukemia and malignant hyperthermia in a patient with type 1b glycogen storage disease.

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Exertional muscle pain in familial Mediterranean fever patients evaluated by MRI and 31P magnetic resonance spectroscopy.

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OBJECTIVE To evaluate the effect of physical activity on the structural, morphological, and metabolic characteristics of the gastrocnemius muscle in familial Mediterranean fever (FMF) patients, utilizing quantitative (31)P magnetic resonance spectroscopy (MRS), in order to elucidate the mechanism of

McArdle's disease (glycogen storage disease type V) and anesthesia--a case report and review of the literature.

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McArdles disease (glycogen storage disease type v) is a rare condition in which energy-metabolism in the muscle is hampered. A case report is presented and the possible risk for perioperative complications including malignant hyperthermia is discussed. A checklist for the anesthesiological

[Cutaneous ulcers and glycogen storage disease type 1b].

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BACKGROUND Glycogen storage disease type 1b is a rare disorder caused by 6-glucose-phosphatase transport deficiency. It is characterised primarily by metabolic disorders combined with hypoglycaemia and hyperlactacidaemia and a predisposition to staphylococcal infections associated with polynuclear

Drug fever caused by propofol in the intensive care unit.

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Few studies have reported that fever is caused by intravenous sedative drugs even though these agents are widely used. We present a case of propofol-induced drug fever. A 57-year-old woman underwent hepatic segmentectomy. Although she was diagnosed with type I glycogen storage disease when in her

A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease.

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Type IV glycogenosis is due to branching enzyme deficiency and is usually manifested clinically by progressive liver disease with cirrhosis and hepatic failure between the second and fourth years of life. We describe a 5-year-old boy who, following an acute febrile illness at 2 years of age, was

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

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II.

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Glycogenosis type II (GSD II) is a lysosomal storage disorder due to acid alpha-glucosidase deficiency. We report the results of a clinical multidisciplinary approach in two cases of nonclassical infantile GSD II. The patients received a high-protein diet by percutaneous enteral gastrostomy (PEG),

Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.

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Esophageal candidiasis is commonly seen in immunocompromised patients; however, candida esophagitis induced stricture is a very rare complication. We report the first case of esophageal stricture secondary to candidiasis in a glycogen storage disease (GSD) 1b child. The patient was diagnosed with

Glycogen storage disease type II: clinical overview.

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Glycogen storage disease type II has a broad continuous clinical spectrum in terms of onset, involvement of organs and life expectancy. Infantile onset is the most severe form, presenting with prominent cardiomyopathy, hypotonia, hepatomegaly and death before 12 months of life. Late onset form has

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.

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OBJECTIVE Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis and recurrent bacterial infections. It is attributable to mutations in G6PT1, the gene for the glucose-6-phosphate transporter responsible for transport of glucose into the

Hemophagocytic Lymphohystiocytosis Associated With Type Ia Glycogen Storage Disease.

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BACKGROUND Hemophagocytic lymphohystiocytosis (HLH) is characterized by fever, splenomegaly, pancytopenia, and elevated levels of triglycerides and ferritin. These signs and symptoms are common to other metabolic diseases. METHODS A 5-month-old female infant, who presented with fever, respiratory

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