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57 Possible Causes for Creatine Kinase Normal or Increased, Splenomegaly, Vacuolization

  • Glycogen Storage Disease Type 2

    Patients have also organomegaly (hepatomegaly, splenomegaly, macroglossia) and feeding difficulties.[] At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[] Laboratory results are significant for an elevated creatine kinase level of 1,423 U/L (normal 200 U/L). There was no increase of lactate on forearm nonischemic testing.[]

  • Amyloidosis

    PATIENT CONCERNS: We reported two cases with ApoA-1 amyloidosis, a 64-year-old man suffering from nephrotic syndrome and a 40-year-old man with nephrotic syndrome and splenomegaly[] Brains of aged adults show extensive vacuolation and staining by an amyloid-specific dye; expression in the eye results in observable neurodegeneration in both the eye and[] kinase concentration slightly increased to normal 6, so the specialists recommended measuring monoclonal protein during the evaluation of a patient with proximal non-inflammatory[]

  • Leptospirosis

    Ultrasound may reveal splenomegaly, hepatomegaly, or renal enlargement.[] Skeletal muscle involvement is secondary to edema, myofibril vacuolization, and vessel damage.[] Creatine kinase and serum amylase may also be elevated.[]

  • Distal Myopathy Type 3

    Skeletal: Short stature; Frontal bossing; Hypophosphatemic rickets Eyes: Retinopathy; Corneal cysteine crystals GI: Not frequent Hepatomegaly; Pancreatic insufficiency; Splenomegaly[] Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[]

  • 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[] In Panel C, electron microscopy shows enlarged intermyofibrillar spaces containing electron-dense accumulations of lipid and mitochondria with distorted cristae and vacuolation[] Chronic icterus, gallstones and splenomegaly are common findings. Etiology Erythrocyte PK deficiency is caused by mutations in the PKLR gene (1q22).[]

  • Osteopetrosis

    […] with infarct, anemia, and extramedullary hemopoiesis Excessive formation of dense trabecular bone leading to pathological fractures; osteitis; splenomegaly with infarct;[] Extensive cytoplasmic vacuolation is evident by phase microscopy in patient cells (arrowheads in B) as opposed to control cells (A).[] The patient had normal biochemical findings and acid-base balance, except for increased serum levels of creatine kinase, lactic dehydrogenase, and the bone formation markers[]

  • Glycogen Storage Disease Type 4

    Ultra-sonography reveals an enlarged liver, ascites and splenomegaly.[] Cortical development was consistent with 36 gestational weeks but vacuoles were noted in the neurons.[] Creatine kinase level is increased in patients with muscle involvement and can be used to determine muscle involvement[ 96 ].[]

  • Polyglucosan Body Myopathy Type 2

    Most of these patients develop portal hypertension and the following associated complications of portosystemic blood shunting: Esophageal varices Encephalopathy Splenomegaly[] ; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy" .[] normal.  Elevated levels of serum creatine kinase (CK) and aldolase suggest muscle involvement, but normal values do not exclude the future development of myopathy. 22.[]

  • Acquired Amyloid Myopathy

    Eryhthromelalgia Metabolic: DM, Pellagra, beriberi, Polio Familial alpha-lipoprotein deficiency ABCA1 transporter CHr. 9 Cholesterol deposits Yellow tonsils, corneal cloudin, splenomegalie[] Vacuoles rimmed with basophilic granules. Inclusion body myositis IBM. Vacuole filled with granules. Modified Gomori trichrome stain. Inclusion body myositis IBM.[] Sensory examination was normal. Serum creatine kinase (CK) was increased to 1200 IU/L (six times normal).[]

  • Linitis Plastica

    A computed tomography scan of the neck, chest, abdomen, and pelvis revealed diffuse lymphadenopathy and no splenomegaly.[] Many tumor cells have large intracytoplasmic vacuoles that push the nucleus to the periphery creating a signet ring appearance. slide 9 of 36[] Elevated serum muscle enzymes were observed with increased creatine kinase to 426 U/L (normal [Figure 4], [Figure 5], [Figure 6].[]

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