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101 Possible Causes for Creatine Kinase Normal or Increased, Failure to Thrive, Vacuolization

  • Glycogen Storage Disease Type 2

    At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[ncbi.nlm.nih.gov] 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.[medbullets.com] Infantile GSDII presents during the first weeks or months of life with poor feeding, failure to thrive, macroglossia, severe hypotonia, cardiomegaly, mild hepatomegaly, and[genedx.com]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    vacuoles.[studyblue.com] Serum transaminase concentrations are increased; creatine kinase levels are normal. The liver typically is markedly enlarged causing a protuberant abdomen.[clinicaladvisor.com] Mutations were also found in patients with atypical clinical signs such as intestinal malabsorption, failure to thrive, the absence of hepatomegaly, or renal hyperfiltration[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease Type 4

    Cortical development was consistent with 36 gestational weeks but vacuoles were noted in the neurons.[neuroplex.org] Creatine kinase level is increased in patients with muscle involvement and can be used to determine muscle involvement[ 96 ].[wjgnet.com] Morbidity is chiefly due to hepatosplenomegaly, hepatic failure and failure to thrive seen in affected individuals.[symptoma.com]

  • Disorder of Carbohydrate Metabolism

    Histopathology wide-spread lysosomal vacuolation leading to intracellular vacuolation of mesenchymal cells cells affected include blood vessels zebra bodies - lamellar/membranous[emilytam.com] Even between episodes, most patients have increased serum creatine kinase ( CK ); forearm ischemic exercise causes no rise of venous lactate concentration.[ncbi.nlm.nih.gov] Episodic Lactic Acidosis in Infancy, Failure to Thrive, and Hypotonia with or without Features Suggesting Specific Disorders In this category, an infant presents with signs[emedicine.medscape.com]

  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[orpha.net] […] to thrive, developmental delay or regression, and dementia.[rarediseases.org]

  • Glycogen Storage Disease Type 1

    Electron microscopy is necessary, however, to verify the presence of membrane-bound glycogen in the vacuolated cells, indicative of intra-lysosomal glycogen.[path.upmc.edu] 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.[medbullets.com] .5,6,7,8,9 Case Report: A 18 month old female child (Fig.1), second born of a non consanguineous marriage was brought to us with complains of failure to thrive, abdominal[journalofpediatriccriticalcare.com]

  • Glycogen Storage Disease due to Phosphoglycerate Mutase Deficiency

    […] recurrent episodes after exercise Treatment: Low carbohydrate diet; Regular exercise Skeletal muscle Abnormal glycogen accumulation: Coarse granular, Amylase-resistant, Cytoplasmic[neuromuscular.wustl.edu] […] serum creatine kinase after statin treatment (see {311870.0004}), but no other symptoms.[bio2rdf.org] […] to thrive In neuromuscular forms, hypotonia and muscle atrophy Treatment: None known For cirrhosis, liver transplantation, which treats the primary disease as well GSD V[msdmanuals.com]

  • Osteopetrosis

    Extensive cytoplasmic vacuolation is evident by phase microscopy in patient cells (arrowheads in B) as opposed to control cells (A).[jmg.bmj.com] 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[springermedizin.de] We report a 3-month-old male child presented with chest infections, failure to thrive and hepatosplenomegaly and diagnosed with osteopetrosis associated with acute myeloid[ncbi.nlm.nih.gov]

  • Glycogen Storage Disease due to Glucose-6-Phosphat Transport Defect

    […] recurrent episodes after exercise Treatment: Low carbohydrate diet; Regular exercise Skeletal muscle Abnormal glycogen accumulation: Coarse granular, Amylase-resistant, Cytoplasmic[neuromuscular.wustl.edu] kinase (elevated due to muscle damage), glucose (normal with fasting), urine myoglobin (elevated due to rhabdomyolysis), ischemic forearm test (no increased lactate from[quizlet.com] Synopsis hepatomegaly failure to thrive renal dysfunction recurrent infections Short stature Delayed puberty ’Doll-like’ facies Lipemia retinalis Hypertension Protuberant[humpath.com]

  • Polyglucosan Body Myopathy Type 2

    ; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy" .[en.wikipedia.org] 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.[slideshare.net] It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system.[checkrare.com]

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