Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 33-year-old African-American woman recently diagnosed with severe idiopathic gastroparesis was readmitted for hypoxic respiratory failure secondary to aspiration pneumonia. A fiber-optic endoscopic evaluation of swallow study revealed severe pharyngeal dysphagia. Brain magnetic resonance imaging showed an ill-defined lesion in the posterior aspect of the medulla concerning for a demyelinating process. Serum neuromyelitis optica immunoglobulin G returned positive. Neuromyelitis optica treatment resulted in the patient's clinical improvement. She is currently on a suppressive regimen of intravenous rituximab and is recovering well.
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PMID:Gastroparesis as the Sole Presenting Feature of Neuromyelitis Optica. 2902 64

Neuromyelitis optica spectrum disorder (NMOSD) is a rare neurological condition infrequently associated with dysphagia on initial presentation. We describe the case of a 54-year-old woman who presented multiple times to healthcare professionals with severe vomiting, followed by sudden profound dysphagia. Her diagnosis was elusive, initially attributed to achalasia cardia and subsequently to stroke. A dorsal medullary lesion was revealed on MRI of the brain, which involved and extended beyond the area postrema. The patient required percutaneous gastrostomy, and repeated aspiration pneumonia complicated her clinical course. After aquaporin-4 antibodies returned positive, a diagnosis of NMOSD was made and she improved with immunosuppression. We discuss the process of lesion localisation and aetiology determination, as well as the difficulties that this case presented. Our hope is that this report will facilitate earlier diagnosis in similar cases in the future.
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PMID:Neuromyelitis optica: an elusive cause of dysphagia. 3064 56

BACKGROUND Neuromyelitis optica (NMO) is an autoimmune, demyelinating, inflammatory disorder affecting the central nervous system, mostly targeting optic nerves and the spinal cord. NMO spectrum disorder (NMOSD) is a newly revised nomenclature in which new diagnostic criteria have been developed, including serological testing of serum aquaporin-4 immunoglobulin G (AQP4-IgG) antibodies. Results of a negative antibody will group the patient in a seronegative subgroup. CASE REPORT We describe the case of a 27-year-old female who presented to our hospital with new onset of sudden unexplained vomiting, dysphagia, dysphonia, and food regurgitation. Extensive investigations were done and brain magnetic resonance imaging (MRI) showed a small nonspecific area of signal abnormality in the right dorsal medulla. Aquaporin-4 antibodies were negative, and the patient was diagnosed with seronegative NMOSD with acute brainstem syndrome after meeting the diagnostic criteria. The patient's condition improved after steroids administration. CONCLUSIONS We report an unusual presentation of seronegative NMOSD presenting with acute brainstem syndrome.
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PMID:Seronegative Neuromyelitis Optica Spectrum Disorder: An Unusual Presentation of Acute Brainstem Syndrome. 3236 56