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18 Possible Causes for Glycogen Storage Disease Type 1, Polychromasia in Peripheral Blood Smear, Splenomegaly

  • Autoimmune Hemolytic Anemia

    Examination demonstrated scleral icterus, splenomegaly, and anemia. By peripheral blood smear, the patient was diagnosed with Plasmodium ovale.[ncbi.nlm.nih.gov] Peripheral blood smear showed polychromasia and spherocytosis. Haptoglobin level was 0.06 g/L ( N 0.16-2). Both hemoglobin electrophoresis and G6PD level were normal.[jahjournal.org] The diagnosis of HLH after SOT is especially difficult, as several of the diagnostic criteria, including fever, splenomegaly, and cytopenias, are nonspecific and can be seen[ncbi.nlm.nih.gov]

  • Paroxysmal Cold Hemoglobinuria

    Signs Splenomegaly Hepatomegaly Transient Jaundice Pale fingers, toes, and tip of nose VI.[fpnotebook.com] storage disease グリコーゲン蓄積症,糖原病(0a型) glycogen storage disease (type 0a) グリコーゲン蓄積症,糖原病(0b型) glycogen storage disease (type 0b) グリコーゲン蓄積症,糖原病(I型) glycogen storage disease (type[jsge.or.jp] Tests include complete blood count (CBC) and peripheral smear.[emedicine.com]

  • Erythropoietic Porphyria

    The consequences of chronic haemolysis are splenomegaly, reactive erythroid hyperplasia, erythrodontia, bone fragility, extreme photosensitivity and photomutilation.[ncbi.nlm.nih.gov] storage disease グリコーゲン蓄積症,糖原病(0a型) glycogen storage disease (type 0a) グリコーゲン蓄積症,糖原病(0b型) glycogen storage disease (type 0b) グリコーゲン蓄積症,糖原病(I型) glycogen storage disease (type[jsge.or.jp] A peripheral blood smear showed poikilocytosis, polychromasia, tear-drop cells, and normoblasts.[bloodjournal.org]

  • Pyruvate Kinase Deficiency

    She is doing well with mild splenomegaly.[ncbi.nlm.nih.gov] In PFK deficiency (glycogen storage disease type VII), clinical hallmarks are male predominance with early onset gout, compensated hemolytic process, and prominent myopathy[ommbid.mhmedical.com] Peripheral blood smear showed polychromasia, anisocytosis, tear drop cells, fragmented eyrtrocytes, and target cells.[ncbi.nlm.nih.gov]

  • Hemolytic Anemia due to a Disorder of Glycolytic Enzymes

    Related phenotypes are splenomegaly and abnormality of metabolism/homeostasis OMIM : 58 Hexokinase deficiency is an autosomal recessive disorder characterized by early-onset[malacards.org] "Glycogen storage disease type I: diagnosis, management, clinical course and outcome.Results of the European study on glycogen storage disease type I".[cancertherapyadvisor.com] blood smear : spherocytes, polychromasia Coombs test : positive Cold agglutinins titer C3 and C4 ; (due to complement activation) Prognosis: spontaneous remission within[amboss.com]

  • Chronic Acquired Pure Red Cell Aplasia

    Case presentation A 67-year-old Greek man was referred to our department because of leucopenia, marked anemia and splenomegaly.[casesjournal.biomedcentral.com] storage disease グリコーゲン蓄積症,糖原病(0a型) glycogen storage disease (type 0a) グリコーゲン蓄積症,糖原病(0b型) glycogen storage disease (type 0b) グリコーゲン蓄積症,糖原病(I型) glycogen storage disease (type[jsge.or.jp] blood smear showed anisocytosis, poikilocytosis, polychromasia and leukocytosis.[ijmstrust.in]

  • Neonatal Isoimmune Neutropenia

    For example, infants with neonatal lupus may have neutropenia but often will have a rash and splenomegaly.[mhmedical.com] Glycogen storage disease type 1 Glycogen storage disease2 type 1, also known as von Gierke disease, is caused by a deficiency in microsomal glucose-6-phosphatase3 activity[slideshare.net] The reticulocyte count, or presence of polychromasia on the peripheral blood smear, can help assess bone marrow response to anemia. As Dr.[captodayonline.com]

  • Autosomal Dominant Aplasia and Myelodysplasia

    He has splenomegaly and slight jaundice on exam. He has good nutrition. PCP checks venous CBC.[docslide.us] Chou JY, Mansfield BC: Molecular genetics of type 1 glycogen storage disease . TEM 1999, 10 :104–113. Google Scholar 9.[link.springer.com] PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly.[mendelian.co]

  • Anemia due to Glutathione Metabolism Disorder

    (D73.81) primary splenic neutropenia (D73.81) splenitis, splenomegaly in late syphilis (A52.79) splenitis, splenomegaly in tuberculosis (A18.85) splenomegaly NOS (R16.1)[en.wikisource.org] […] deficiency GK Glycogen storage disease of heart (lethal) PRKAG2 Glycogen storage disease type 0 muscle GYS1 Glycogen storage disease type 0 GYS2 Glycogen storage disease[centogene.com] The peripheral blood smear post-splenectomy often shows crenated or spiculated spherocytes and marked polychromasia.[clinicaladvisor.com]

  • Zieve's Syndrome

    Examination New onset of pallor and anemia Jaundice Gallstones Splenomegaly /- hepatomegaly INVESTIGATIONS Confirm haemolysis Increased absolute reticulocyte count LDH (elevation[lifeinthefastlane.com] storage disease グリコーゲン蓄積症,糖原病(0a型) glycogen storage disease (type 0a) グリコーゲン蓄積症,糖原病(0b型) glycogen storage disease (type 0b) グリコーゲン蓄積症,糖原病(I型) glycogen storage disease (type[jsge.or.jp] The peripheral blood smear revealed polychromasia and nucleated erythrocytes. The parents’ blood counts and smears were normal.[indianpediatrics.net]

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