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 39-year-old woman initially developed vomiting and intractable hiccup, followed by progressive dysphagia, dysarthria and hypoglossal nerve palsy. She was admitted to our department on the 30th day of illness. MRI-FLAIR images of the brain revealed a hyperintense lesion in the dorsal medulla. A diagnosis of neuromyelitis optica spectrum disorder (NMOSD) was entertained according to the clinical course and the MRI images. The dysphagia was intractable to methylprednisolone pulse therapy, and so a course of plasma exchange therapy was initiated on the 32nd day of illness. After the third plasma exchange, the symptoms began to improve. Thereafter the patient's serum on admission was reported as positive for anti-aquaporin-4 antibody. Considering the irreversible nature of NMOSD pathology, early initiation of plasma exchange therapy is recommended to minimize the lesion in the case of steroid-refractory NMOSD patients.
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PMID:[Successful treatment of neuromyelitis optica spectrum disorder by early initiation of plasma exchange]. 2567 65

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