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1,443 Possible Causes for Juvenile Familial Leg Ulcers, Large Anterior Fontanel at Birth, Neonatal Hypotonia

  • Oculocerebrorenal Syndrome

    Neonatal hypotonia can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills (i.e. sitting, standing, and walking).[secure.ssa.gov] Symptoms and Signs Affected individuals have congenital cataracts, glaucoma, corneal leukomas, renal failure, curved growth in subsequent years, and neonatal hypotonia.[medigest.uk] Nervous system : Neonatal hypotonia. Developmental delay, learning difficulties. Behavioural problems including aggresive outburst. Seizures in about 50% cases.[genetics4medics.com]

    Missing: Juvenile Familial Leg Ulcers
  • Neonatal Adrenoleukodystrophy

    Differential diagnosis Differential diagnoses include Usher syndrome (see this term) and all causes of neonatal hypotonia.[rarediseases.info.nih.gov] , neonatal seizures, liver dysfunction or leukodystrophy.[rarediseases.info.nih.gov] Clinical description The disease manifests in the neonatal period with hypotonia (92%) and seizures (91%) as dominant features.[rarediseases.info.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Cerebral Cortical Atrophy

    Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria.[mendelian.co] Systemic Features: Severe hypotonia is present at birth often causing respiratory distress in the neonate. Spasticity can develop later.[disorders.eyes.arizona.edu] hypotonia and lactic acidosis.[mendelian.co]

    Missing: Juvenile Familial Leg Ulcers
  • Hypoglycemia

    An 84-year-old Japanese woman with metastatic insulinoma suffered from frequent hypoglycemic events. Continuous glucose monitoring (CGM) confirmed severe and frequent symptomatic/asymptomatic hypoglycemia. After the initiation of everolimus treatment, the hypoglycemic events were rapidly eliminated. CGM revealed[…][ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Zellweger Syndrome

    Infants with Zellweger syndrome present with flattened facies, large anterior fontanel, split sutures, a prominent high forehead, a flattened occiput, upslanting palpebral[ela-asso.com] In the newborn period, the characteristics of affected patients include dysmorphic facial features, neonatal hypotonia, seizures, ocular abnormalities, poor feeding, liver[ncbi.nlm.nih.gov] CASE REPORT: A 3-year-old boy with neonatal hypotonia, overall developmental delay and failure to thrive and a pattern of hypomyelinating leukodystrophy in brain resonance[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers
  • Spinal Cord Injury

    When neonates with asphyxia present with prolonged respiratory failure and hypotonia, spinal cord injury should be considered in the differential diagnosis.[ncbi.nlm.nih.gov] Thus she was diagnosed with an upper spinal cord injury at that time.Some patients with neonatal spinal cord injuries satisfy the criteria for therapeutic hypothermia.[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Primary Apnea

    Physical exam Neonates with apnea demonstrate notable findings such as absent wall movement, cyanosis, and hypotonia.[symptoma.com]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Neonatal Sepsis

    Patients and methods Patients This study was carried out in the neonatal ICU in Benha Children Hospital over 60 neonates presenting with late-onset neonatal septicemia.[mmj.eg.net] Neonatal sepsis or septicaemia is a clinical syndrome characterized by systemic signs of circulatory compromise (e.g., poor peripheral perfusion, pallor, hypotonia, poor responsiveness[journals.plos.org] […] presentation, may be associated with any gradation of symptoms, from only subtle feeding disturbances to frank septic shock. 14 In the Japanese NICUs, the definition of neonatal[dovepress.com]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Fetal Trauma

    The neonate can present with hypotonia, quadriplegia or paraplegia; plain radiographs, ultrasound and MRI can aid diagnosis [ 19 ].[ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth
  • Guillain-Barré Syndrome

    Guillain-Barré syndrome (GBS) is an acute inflammatory polyradiculoneuropathy presumed to result from an infection-triggered autoimmune reaction. This paper describes a 53-year-old man admitted to hospital for deterioration of his general condition. He developed GBS, confirmed by lumbar puncture and electromyogram,[…][ncbi.nlm.nih.gov]

    Missing: Juvenile Familial Leg Ulcers Large Anterior Fontanel at Birth

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