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17 Possible Causes for Failure to Thrive, Muscle Biopsy showing Presence of Vacuoles

  • Glycogen Storage Disease Type 2

    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] Muscle biopsy in Pompe disease shows the presence of vacuoles that stain positively for glycogen.[dx.doi.org] Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems.[ghr.nlm.nih.gov]

  • Granulomatous Myositis

    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] In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com] The T-cell receptor repertoire observed in lymphocytes that have been isolated from the muscles of these patients shows restriction when compared to the lymphocytes of the[rheumatologyadvisor.com]

  • Distal Myopathy Type 3

    […] to thrive, developmental delay or regression, and dementia.[rarediseases.org] The electromyograhy (EMG) shows a myopatic pattern and the muscles biopsy reveals dystrophic changes without the presence of rimmed vacuoles 1,4.[scielo.br] […] to thrive: 1st year Skeletal: Short stature; Frontal bossing; Hypophosphatemic rickets Eyes: Retinopathy; Corneal cysteine crystals GI: Not frequent Hepatomegaly; Pancreatic[neuromuscular.wustl.edu]

  • Proximal Myopathy with Extrapyramidal Signs

    […] to thrive, hepatic failure, renal tubular acidosis, diabetes mellitus and other endocrinopathies, bone marrow failure, and immunologic alterations ( Table 8.1 ).[neupsykey.com] Muscle biopsy shows the presence of vacuoles, containing glycogen, in muscle fibers, which are present during an attack, and which may decrease in number immediately after[intranet.tdmu.edu.ua] Onset occurs during the first few months of life with failure to thrive, polyuria and rickets related to proximal tubular losses.[pliem.co.za]

  • Fingerprint Body Myopathy

    Infants present with severe hypotonia and facial diplegia, and may develop failure to thrive secondary to inability to suck and respiratory complications.[rrnursingschool.biz] Interattack muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates.[basicmedicalkey.com] Chandran syndrome Metaphyseal undermodeling, spondylar dysplasia, and overgrowth Macrocephaly-capillary malformation Warman Mulliken Hayward syndrome Cataract-microcephaly-failure[checkrare.com]

  • Carcinomatous Myopathic Syndrome

    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] Muscle biopsy shows inflammation of muscle, fibre necrosis and the presence of vacuoles and filamentous inclusions in fibres (seen by electron microscopy).[somalidoc.com]

  • Myopathy, Endocrine

    […] to thrive, growth retardation, ADHD Features in adults: goitre, thyrotoxic cardiac symptoms Myxedema coma The only emergent hypothyroid condition Precipitated by cold exposure[medbullets.com] Muscle biopsy shows inflammation of muscle, fibre necrosis and the presence of vacuoles and filamentous inclusions in fibres (seen by electron microscopy).[somalidoc.com] In inclusion body myositis, findings on muscle biopsy may show the presence of vacuolated muscle fibers with basophilic granular deposits, the presence of varying degrees[rheumatologyadvisor.com]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    […] to thrive Uncommon - Between 30% and 50% cases Motor delay Uncommon - Between 30% and 50% cases Accelerate your rare disease diagnosis with us Learn more Other less frequent[mendelian.co] Interattack muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates.[basicmedicalkey.com] 20 Congenital club feet, DMM, PMP18 mo 111 111 Flat thorax, failure to thrive 15 21 DMM, scoliosis 18 mo 1 11 11 HAP, pes cavus, spinal rigid-ity 16 22 PMP, scoliosis NA[docslide.net]

  • Infantile Onset Autophagic Vacuolar Myopathy

    Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013 ).[mendelian.co] muscle biopsies show the presence of single or multiple centrally placed vacuoles or tubular aggregates. • Treatment: Oral KCl (0.2– 0.4 mmol/kg) should be given every 30[slideshare.net] The first indication of a problem is a failure to thrive. The rate of growth and mental progress of the baby stops at a certain point and does not continue normally.[annalsofneurosciences.org]

  • Postaxial Polydactyly Type A6

    […] to thrive NA Y N Hemihypertrophy Other Craniofacial NA Y N Craniosynostosis NA Y N Cleft upper lip NA Y N Cleft palate NA Y N Abnormal facial shape Other Eye Defects NA Y[playground.phenotips.org] Because of generalized hypotonia, a muscle biopsy was performed.[documents.tips] Increased body weight ( 2SD) Stature for age NA Y N Short stature ( NA Y N Tall stature ( 2SD) Head circumference for age NA Y N Microcephaly ( NA Y N Macrocephaly ( 2SD) NA Y N Failure[playground.phenotips.org]

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