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629 Possible Causes for Glycogen Storage Disease Type 2, Splenomegaly

  • Glycogen Storage Disease Type 2

    Patients have also organomegaly (hepatomegaly, splenomegaly, macroglossia) and feeding difficulties.[] Glycogen storage disease type 2, also known as Pompe disease or acid maltase deficiency disease, is an inherited metabolic disorder. [1] [2] [3] While glycogen storage disease[] Glycogen storage disease type 2, sometimes also referred to as Pompe disease, is a genetic disorder inherited as an autosomal recessive trait.[]

  • Liver Cirrhosis

    We performed LS in 83 patients with massive splenomegaly ( 30 cm) secondary to portal hypertension and liver cirrhosis.[] Abstract Glycogen storage disease Ib is an inborn error of carbohydrate metabolism leading to impaired glycogenolysis and gluconeogenesis[] KEYWORDS: AGL; Glycogen storage disease type III; Liver cirrhosis; Living donor liver transplantation; Mutation[]

  • Portal Cirrhosis

    Liver cirrhosis: Liver cirrhosis with an inhomogeneous liver with irregular contour and ascites and splenomegaly Liver cirrhosis: Liver cirrhosis with an irregular liver contour[] storage disease Tyrosinemia Wilson disease Alpha1-antitrypsin deficiency Cystic fibrosis Bile duct diseases: Biliary artresia Sclerosing cholangitis Congenital hepatic fibrosis[] storage disease) Genetic digestive disorder (Alagille syndrome) Liver disease caused by your body's immune system (autoimmune hepatitis) Destruction of the bile ducts (primary[]

  • Glycogen Storage Disease Type 4

    Ultra-sonography reveals an enlarged liver, ascites and splenomegaly.[] […] deficiency Glycogen storage disease Glycogen storage disease type III Glycogen storage disease type VIII Glycogen storage disease, type 1 Glycogen storage disease, type 2[] Some potential complications associated with Andersen's Disease include: Scarring of the liver; liver cirrhosis Liver failure Development of an enlarged spleen (splenomegaly[]

  • Cardiomyopathy

    Sarcoidosis may be suspected in patients with cardiomyopathy and lymphadenopathy, skin rashes, or splenomegaly.[] storage disease Restrictive cardiomyopathy with endomyocardial fibrosis Restrictive cardiomyopathy without endomyocardial fibrosis Reversible myocardial perfusion defect[] storage disease; familial hypertrophic cardiomyopathy 6 ?[]

  • Primary Immune Deficiency Disorder

    Splenomegaly and generalized lymphadenopathy are present in many patients with common variable immunodeficiency (CVID).[] In Glycogen storage disease 1b, 32% had osteopenia, and 12% had short stature [96].[] Hepatomegaly and splenomegaly may be detected in the abdomen. In infants, crusting around the anus may be a sign of chronic diarrhoea.[]

  • Niemann-Pick Disease Type B

    Most patients initially presented with splenomegaly (78%) or hepatomegaly (73%).[] We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens[] Published Journal Article We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen[]

  • Spleen Disease

    Approach to the adult patient with splenomegaly and other splenic disorders. . Accessed June 14, 2016. Splenomegaly. Merck Manual Professional Version. .[] storage diseases Continued Symptoms of an Enlarged Spleen Most people don't know they have an enlarged spleen because symptoms are rare.[] […] noncancerous fluid-filled sac A large abscess, a pus-filled cavity usually caused by a bacterial infection Infiltrative diseases such as Gaucher disease, amyloidosis, or glycogen[]

  • Gaucher Disease

    CONCLUSION: HALS for GD patients with refractory hypersplenism and massive splenomegaly is safe and feasible in experienced hands.[] An autsomal recessive deficiency of acid Beta glucocerebrosidase most common glycogen storage disease 1 in 40,000 incidence most common in Ashkenazi Jewish origin what is[] Pompe disease (glycogen storage disease type II): Clinical features and enzyme replacement therapy. Acta Neurol Belg. 2006;106(2):82-86.[]

  • Persistent Polyclonal B-cell Lymphocytosis

    Abstract Five cases of persistent polyclonal B-cell lymphocytosis (PPBL) with progressive splenomegaly are reported; three were splenectomized.[] storage disease Lysosomal glycogen storage disease with normal acid maltase activity Lysosomal membrane cobalamin transporter deficiency Lysosomal storage disease with skeletal[] […] negative lymphocytosis, the presence of binucleated lymphocytes in peripheral blood, and a polyclonal increase in serum immunoglobulin-M that may occasionally be accompanied by splenomegaly[]

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