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1,651 Possible Causes for Most Patients Have Adult Onset of Symptoms, Mutation in the CALM2 Gene, Papilledema

  • Meningoencephalitis

    Fundoscopy revealed bilateral gross papilledema with positive neck stiffness.[ajnr.org] Increased intracranial pressure (ICP) • Papilledema • Cushing’s triad – Bradycardia – Hypertension – Cheyne-Stokes Breathing • Projectile vomiting • Headache 14.[slideshare.net] PAM (Case 5) PAM is caused by Naegleria fowleri, with most patients having an acute onset of symptoms with rapid progression and almost always fatal meningoencephalitis within[ajnr.org]

    Missing: Mutation in the CALM2 Gene
  • Hypertension

    Retinal changes may include arteriolar narrowing, hemorrhages, exudates, and, in patients with encephalopathy, papilledema ( hypertensive retinopathy ).[merckmanuals.com] Grade 1: Constriction of arterioles only Grade 2: Constriction and sclerosis of arterioles Grade 3: Hemorrhages and exudates in addition to vascular changes Grade 4: Papilledema[merckmanuals.com] […] is 10% in patients with retinal sclerosis, cotton-wool exudates, arteriolar narrowing, and hemorrhage (grade 3 retinopathy), and 5% in patients with the same changes plus papilledema[merckmanuals.com]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • CINCA Syndrome

    Gallen (CH) A unilateral vision loss with papilledema is seldom seen during childhood.[thieme-connect.com] […] will not develop symptoms until they are adults.[saidsupport.org] At the age of 3.5 years, after a 5-month history of neck stiffness and headaches, he was found to have papilledema.[healio.com]

    Missing: Mutation in the CALM2 Gene
  • Pineal Gland Cyst

    Symptoms include: • headache • nausea • papilledema • diplopia • vertical gaze paralysis • seizure • ataxia • hemiparesis Radiolographic findings: On CT: • sharply defined[radrounds.com] Hydrocephalus symptoms include: headaches, vomiting, nausea, convulsions, lethargy and papilledema, a condition in which the optic disks accumulates excessive amounts of watery[epainassist.com] Physical examination revealed mild papilledema and paralysis of upward gaze.[jaocr.org]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    The onset of symptoms can occur in childhood or adulthood; most patients have adult onset.[rarediseases.org] There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] Notably, some individuals with phosphorylase kinase deficiency in muscle do not have any obvious symptoms.[rarediseases.org]

    Missing: Papilledema
  • Hypertensive Crisis

    Retinal papilledema and/or fundal bleeds and exudates are another sign of target organ damage.[en.wikipedia.org] […] raise suspicion of ischemic stroke or cerebral hemorrhage These patients usually have advanced retinopathy with arteriolar changes, hemorrhages and exudates, along with papilledema[specialty.mims.com] Urgency is differentiated from emergency cases owing to the lack of organ damage signs such as heart failure, papilledema or aortic dissection.[symptoma.com]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Traumatic Brain Injury

    Look especially for the following: Visual acuity in an alert patient Pupillary light reflexes, both direct and consensual Retinal detachment or hemorrhages or papilledema[emedicine.com]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Pulmonary Emphysema

    We describe a preterm infant (31 weeks' gestation) with unilateral pulmonary emphysema. Bronchoscopy showed no bronchial obstruction. After 20 days of right-sided high-frequency oscillating ventilation, the emphysema in the left lung had completely resolved and the patient could be extubated.[ncbi.nlm.nih.gov]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Chronic Obstructive Pulmonary Disease

    Chronic obstructive pulmonary disease (COPD) remains a major public health problem. It is the fourth leading cause of chronic morbidity and mortality in the United States, and is projected to rank fifth in 2020 in burden of disease worldwide, according to a study published by the World Bank/World Health[…][doi.org]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene
  • Preeclampsia

    […] the following: Sustained systolic BP greater than 160 mm Hg or diastolic BP greater than 110 mm Hg Tachycardia Tachypnea Rales Mental status changes Hyperreflexia Clonus Papilledema[emedicine.com] […] cerebral or visual disturbances; (6) epigastric pain; (7) elevated liver enzymes; (8) thrombocytopenia (platelet count 100,000/mm 3 ); (9) retinal hemorrhages, exudates, or papilledema[health.am] Oliguria, ARF Hematological Hemolysis, thrombocytopenia, DIC Neurological Eclampsia, cerebral edema, stroke, PRES Ophthalmologic Amaurosis, retinal hemorrhages, exudates, papilledema[scielo.br]

    Missing: Most Patients Have Adult Onset of Symptoms Mutation in the CALM2 Gene

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