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311 Possible Causes for Failure to Thrive in Early Infancy, Presynaptic Defect at the Neuromuscular Junction

  • Smith Lemli Opitz Syndrome

    These disorders are distinguished by molecular defects and the localization of the dysfunction at the presynaptic, postsynaptic, and neuromuscular junction.[journals.lww.com] He had a normal perinatal period; however, his early infancy was complicated by poor feeding, episodes of loose stools, failure to thrive, and several episodes of unexplained[ncbi.nlm.nih.gov] […] external auditory canals as anomalies associated with the disorder. [2,3] 4.9 Congenital myasthenic syndromes (CMS) CMS are a heterogeneous group of disorders affecting neuromuscular[journals.lww.com]

  • Vitamin B12 Deficiency

    During infancy, signs of a vitamin B12 deficiency include failure to thrive, movement disorders, developmental delays, and megaloblastic anemia [ 30 ].[web.archive.org] During infancy, signs of a vitamin B12 deficiency include failure to thrive, movement disorders, developmental delays, and megaloblastic anemia [ 33 ].[ods.od.nih.gov] The neurological symptoms of vitamin B12 deficiency can occur without anemia, so early diagnosis and intervention is important to avoid irreversible damage [ 6 ].[web.archive.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Hydronephrosis

    Hydronephrosis is swelling of one kidney due to a backup of urine. This problem may occur in one kidney. Hydronephrosis (kidney swelling) occurs as the result of a disease. It is not a disease itself. Conditions that may lead to hydronephrosis include: Blockage of a ureter due to scarring caused by prior infections,[…][nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Hypersensitivity

    Affected group: Early infancy. Symptoms: Protracted diarrhoea, vomiting, failure to thrive, abdominal distension, early satiety, and malabsorption.[web.archive.org] Non-IgE-Mediated Food Allergic Disorders (some appear to be T-cell-mediated) Affected group: Early infancy.[web.archive.org] Symptoms: Irritability, protracted vomiting 1 to 3 hours after feeding, bloody diarrhoea (may result in dehydration) anaemia, abdominal distension, failure to thrive.[web.archive.org]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Congenital Myasthenic Syndrome

    Congenital myasthenic syndromes are classified as presynaptic, synaptic, or postsynaptic, depending on the primary defect's location within the neuromuscular junction.[ncbi.nlm.nih.gov] He has suffered from gastro-esophageal reflux disorder (GERD) and failure to thrive (FTT) since early infancy.[oatext.com] […] the acetylcholine receptor, CMS is caused by genetic presynaptic, synaptic, or postsynaptic defects at the neuromuscular junction.[webeye.ophth.uiowa.edu]

  • Leigh's Disease

    A 5-month-old male infant was referred to us for evaluation of progressive hypotonia. He had growth retardation, feeding difficulty and general weakness. Brain sonography and computed tomography demonstrated symmetrical lesions in the caudate, lenticular nuclei, thalamus and hypothalamus, suggesting bilateral[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Hyperuricemia

    Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.[link.springer.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Canavan Disease

    infancy Lack or inability in head control Undeveloped motor skills or may lose previously acquired motor skills Failure to thrive due to difficulty in feeding and swallowing[healthool.com] The general symptom of the disease may vary however although the general and common symptoms include the following: Rapid increase in head circumference especially during early[healthool.com]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Neurotic Disorder

    […] or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.[orpha.net] ORPHA:77292 Classification level: Disorder Synonym(s): - Prevalence: 1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: E75.2 OMIM: 257200[orpha.net] […] definition Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy[orpha.net]

    Missing: Presynaptic Defect at the Neuromuscular Junction
  • Myasthenia Gravis

    A 28-year-old female patient came to the outpatient dental clinic for multiple teeth extractions and full mouth rehabilitation suffer from myasthenia gravis (MG) primary presentation as tongue atrophy and facial muscles weakness and the symptoms became worries, the patient unable to speak as well and change her[…][ncbi.nlm.nih.gov]

    Missing: Presynaptic Defect at the Neuromuscular Junction

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