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10 Possible Causes for Failure to Thrive, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear[ncbi.nlm.nih.gov] The disease results in deposition of crystals throughout the body; if untreated, it leads to failure to thrive, profound metabolic imbalance, early end-stage renal disease[nejm.org]

  • MELAS Syndrome

    Initially the muscle biopsy may show only muscle fibers with subsarcolemmal accumulation of mitochondria without typical RRF, but all patients with MELAS have RRF in the course[scielo.br] In infants and young children the primary symptoms are failure to thrive, developmental delays, and learning disabilities.[disorders.eyes.arizona.edu] However, infants and young children may present with failure to thrive, developmental delay, and learning disabilities.[disorders.eyes.arizona.edu]

  • Carnitine Transporter Deficiency

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] […] to thrive.[medlink.com] Symptoms: Encephalomyopathy and various manifestations, including failure to thrive, developmental delay, hyoptonia, lethargy, respiratory failure, ataxia, myoclonus.[umdf.org]

  • Chronic Progressive External Ophthalmoplegia

    […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] . : Common deletion of mitochondrial DNA in a 5-year old girl with failure to thrive, ptosis, ophthalmoplegia, and ragged-red fibers . Brain Dev 1999, 21 :413–415.[link.springer.com] Short stature may be the result of growth hormone deficiency and/or failure to thrive.[ncbi.nlm.nih.gov]

  • Genetic Recurrent Myoglobinuria

    An increased immunoreactivity in the subsarcolemmal zone owing to the accumulation of mitochondria was observed (fig 2G).[jmg.bmj.com] Common symptoms include hypoglycemia, hyperlactacidemia, severe generalized hypotonia, myopathy, cardiomyopathy, failure to thrive, cardiac failure, circulatory collapse,[ommbid.mhmedical.com] […] to thrive-microcephaly syndrome Krabbe disease Lesch-Nyhan syndrome Lipid storage disease Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Lysosomal acid phosphatase[se-atlas.de]

  • Autosomal Dominant Myoglobinuria

    In addition, COX can highlight the subsarcolemmal accumulations of mitochondria.[neupsykey.com] Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com] Failure to thrive, infantile cataracts, mental retardation. Progressive hepatic failure, cirrhosis, death. Galactokinase-deficiency: infantile cataracts are prominent.[kumc.edu]

  • Danon Disease

    There was an increase in glycogen granules with subsarcolemmal accumulation.[circ.ahajournals.org] Within the first months of life, affected infants have difficulty gaining weight and growing at the expected rate (failure to thrive) and develop an enlarged liver (hepatomegaly[icdlist.com] Mitochondria appeared to be of normal density with no demonstrable abnormal cristae pattern or intramitochondrial inclusions.[circ.ahajournals.org]

  • Congenital Myasthenic Syndrome 14

    He has suffered from gastro-esophageal reflux disorder (GERD) and failure to thrive (FTT) since early infancy.[oatext.com]

  • Myopathy with Giant Abnormal Mitochondria

    SDH staining of muscle biopsy showed subsarcolemmal accumulation of abnormal mitochondria in 12 cases and 3-40% red ragged fibres on GMT staining in ten cases, while muscle[neurologyindia.com] At 27 months of age he had failure to thrive and presented with abdominal distention, ascites, jaundice, low serum albumin, and elevated lactate.[bcmj.org] , growth failure, hypothyroidism, hypogonadism, hypoparathyroidism Gastrointestinal – vomiting, failure to thrive, dysphagia, gastrointestinal motility problems, pseudoobstruction[arupconsult.com]

  • Progressive External Ophthalmoplegia - Myopathy - Emaciation Syndrome

    Additional features are dysphagia resulting in poor feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis.[nectarmutation.org] An electron microscopic study showed a prominent accumulation of ab- normal mitochondria in the subsarcolemmal regions.[docslide.com.br] Visual loss Alopecia Progressive Visual impairment Fatigue Diabetes mellitus Peripheral neuropathy Spasticity Failure to thrive Tremor Gait disturbance Central heterochromia[mendelian.co]

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