Foundation Doctor National Health Service SOUTHSEA, England, United Kingdom
Case Diagnosis: 69 year old man diagnosed with neuromyelitis optica.
Case Description or Program Description: He presented to the emergency department with a two day history of generalised body aches. On the day of admission, he woke up with pain in his left anterior thigh, accompanied by weakness that resulted in a sudden unwitnessed fall. On further questioning, he reported discomfort in the back of his neck and generalised numbness on the left side of his body preceding the fall. He denied losing consciousness and notably had no visual symptoms.
Setting: Just under 700 cases of Neuromyelitis Optica with a positive AQP4 antibody were reported across the United Kingdom (source: NICE). Within a global context, with data suggesting an overall annual incidence of only 0.16 per 100,000 population. Optic neuritis and transverse myelitis are hallmark features. First presentation predominantly occurs between the ages of 30 and 40 with females being sufferers just over 80% of the time
Assessment/Results: MRI of the whole spine revealed ‘continuous abnormal T2 high signal extending from the upper cervical to the lower thoracic cord with mild cord expansion.’ Subsequently, a Lumbar Puncture was conducted with a sample sent for antibodies which later showed positive Aquaporin 4 antibodies.
Discussion (relevance): Diagnosis rely heavily on the results of the Aquaporin-4 antibody test. A positive result requires the presence of only one of six clinical manifestations for a diagnosis to be made. Conversely, a negative test result or an 'unknown status' necessitates the presence of two core symptoms, one of which must be optic neuritis. In this case, the patient was diagnosed with the condition solely based on their acute myelitis and positive antibody test result, despite the absence of any visual symptoms
Conclusions: This case is significant. There is a significant absence of the presentation of this disease in the absence of optic myelitis and associated visual symptoms.