Clinically, the patient may present with neurological symptoms such as numbness, weakness, loss of reflexes, or even sudden or progressive paralysis. The affected portion of the body will correlate to where the lesion lies within the spinal cord. The disease typically has an insidious onset, but symptoms may manifest suddenly. A thorough physical exam may lead a physician toward targeted imaging, with MRI being the most appropriate imaging modality for initial diagnosis. A spinal MRA will serve as a superior imaging technique to visualize the extent of the arteriovenous malformation within the cord and may be especially useful if surgical treatment is attempted.
Foix–Alajouanine syndrome
Wilson–Mikity syndrome
Wilson–Turner syndrome
Foix–Chavany–Marie syndrome
Maroteaux–Lamy syndrome
Cronkhite–Canada syndrome
Shwachman–Diamond syndrome
WHIM syndrome