Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neuromyelitis optica also named Devic's disease is an acute combined optic neuritis and transverse myelitis. It is thought to be a variant of multiple sclerosis, but its clinical presentation probably has only one attack without further recurrence and exacerbation. We present a 12-year-old girl who suffered from sudden onset of lower extremeties weakness, sensory loss and blurred vision after a prodromal URI symptom. CSF examination showed mild pleocytosis, elevated immunoglobulins, mild elevation of protein concentration. No oligoclonal band was detected. Serum virology showed high titer of anti-EB virus antibody. Visual evoke potential showed prolong of latency and decreased amplitude of both eyes. After prednisolone treatment, her visual accuity began to improve on the 7th hospital day and motor function improved on the 11th hospital day. Two years later, she has normal visual accuity, normal motor function and shows no evidence of disease recurrence.
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PMID:Neuromyelitis optica (Devic's disease) report of one case. 256 81

This report describes a 16-year old female patient who presented with acute paresis in both lower limbs, acute urinary retention, blurred vision and arthritis. The patient was diagnosed as having systemic lupus erythematosus with myelitis and bilateral abducent nerves palsy. The administration of steroids resulted in marked improvement in her neurological symptoms.
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PMID:A case of neuropsychiatric lupus with myelopathy successfully treated with corticosteroids. 1528

We presented a 34-year-old woman with blurred vision and inability to walk due to acute optic neuritis and transverse myelitis, neuromyelitis optica (Devic's syndrome), for an interesting presentation of this syndrome with proteinuria as the first manifestation of systemic lupus erythematosus.
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PMID:Devic's syndrome concomitant with nephritis in a young woman. 1964 77

Neuromyelitis optica (NMO) is an inflammatory demyelinating disorder characterized by optic neuritis and acute myelitis. A parainfectious pathogenesis may play a partial role in the development of this disorder. Several viral infections are known to cause NMO. Here we report the case of a 15-year-old girl diagnosed with postinfluenza monophasic NMO. The patient developed sudden fever and chills, and the rapid diagnostic test for influenza was positive. She was diagnosed as influenza A and was treated with zanamivir hydrate (10 mg/day, inhalation). Three days later, she complained of dysuria and dysesthesia in the lower extremities. After nine days, she experienced blurred vision bilaterally. Neurological examination revealed visual disturbance, dysuria, dysesthesia and hyperreflexia in the lower extremities. Her visual acuity was counting fingers in OD and 2/100 in OS. Pupillary size was 4.0 mm and light reflexes were sluggish on both sides. Ophthalmoscopy showed marked edema of the optic discs. Serum influenza immunoglobulin M antibodies were elevated and serum anti-aquaporin 4 (AQP4) antibodies were undetectable. Spinal cord magnetic resonance imaging (MRI) displayed longitudinally extensive lesions in the thoracic cord. Brain MRI disclosed three subcortical lesions. The patient fulfilled the revised diagnostic criteria for NMO (2006). After methylprednisolone pulse therapy followed by oral administration of prednisolone, visual dysfunction, dysuria, limb dysesthesia and hyperreflexia were improved. Subsequently, she experienced no attacks for 3 years. This is the first case report of influenza A-associated NMO with such features of postinfectious NMO as a pediatric onset, monophasic course and anti-AQP4 antibody-seronegative status.
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PMID:Influenza-associated monophasic neuromyelitis optica. 2180 90

Introduction: Cerebral autosomal dominant arteriopathy and subcortical infarct leukoencephalopathy (CADASIL) is the most common form of hereditary stroke caused by a mutation in the NOTCH3 gene located on the short arm of chromosome 19. A small number of published reports describe CADASIL patients who were initially diagnosed as multiple sclerosis. Although it was previously indicated that there was no association between NOTCH3 mutations and multiple sclerosis, the involvement of autoimmune mechanisms among patients with CADASIL has been hypothesized. Case Presentation: Case 1 is a middle-aged woman with initial diagnoses of multiple sclerosis (MS) and myelitis that continued to progress despite treatment with disease-modifying agents. She had occasional migraines, transient blurred vision, and multiple lacunar infarcts. She continued treatment for about 15 years with no significant alleviation and progressive changes on brain MRI; genetic testing was ordered which showed NOTCH3 mutation, and diagnosis was changed to CADASIL with subsequent revision of treatment course. However, the presence of myelitis in this patient is unusual and may raise the question of a concurrent autoimmune process. Case 2 is a woman presenting with vertigo and paresthesia and diagnosed with MS based on an initial brain MRI showing biventricular white matter hyperintensities; however, she was not started on any disease-modifying agents. Her symptoms were reevaluated by a neurologist, and genetic testing was performed for NOTCH 3. Case 3 is a young woman with a history of migraines who initially presented with numbness and gait ataxia which later progressed to speech difficulty and memory loss. A diagnosis of MS was established which was later changed to CADASIL. Conclusion: Since CADASIL is a rare disease, it is imperative to raise awareness of its unique clinical condition as well as variation in its clinical presentations. It is crucial that the overlapping symptoms between MS and CADASIL be thoroughly examined to avoid misdiagnosis and treatment complications. The involvement of autoimmune mechanisms in CADASIL and the role of NOTCH3 gene mutations in provoking an autoimmune process should be further investigated.
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PMID:CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series. 3301 20