I Can't Stand the Double Vision

MRI of the brain and orbit with contrast demonstrated a parietal lesion with enhancement and edema, brain stem was normal. Paraneoplastic panel, collagenogram, lactate, pyruvate, thymidine phophorilase, southern blot for mitochondrial DNA, acetylcholinesterase antibodies including MuSK antibodies were all normal. Tensilon test was negative. Total body CT and PET CT ruled out malignancy. Colon pathology demonstrated enteric ganglionitis with degenerative neuropathy. The working diagnosis was autonomic failure and a complete autonomic evaluation was performed and demonstrated minimal RR variability, pathologic blood pressure reaction to Valsalva maneuver, abnormally low dihydroxyphenylglycol (DHPG), dihydroxyphenylcetic acid (DOPAC) and dihydroxyphenylalanine (DOPA). MIBG scintigraphy was compatible with sympathetic post ganglionic denervation. Due to the family history for autoimmunity, the diagnosis of autoimmune autonomic dysfunction was considered. Serum sample was positive for Ganglionic AchR antibodies, and the patient was diagnosed with autoimmune autonomic ganglionopathy (AAG). She was treated with IV methylprednisolone with minimal improvement and therefore was started on plasma exchange, mycophenolate mofetil and pyridostigmine. Two months into treatment ptosis and diplopia gradually improved, pupils did not change. She reports significant improvement in her bowel function and abdominal pain; she gained 20 pounds and eats a soft diet. Autonomic functions improved and she can currently function almost normally with elastic stockings. Her main concern is severe dry eye; Schirmer test at her last visit measured less than 1 mm after 5 minutes. Autonomic autoimmune gangliopathy is an immune mediated disease characterized by prominent involvement of autonomic nerves and ganglia that leads to severe diffuse autonomic failure. In 50% of patients with AAG, acetylcholine receptor autoantibodies against α3 subunit are detected in the serum. Patients usually present with signs and symptoms of widespread autonomic dysfunction evolving over days to month including orthostatic hypotension, gastrointestinal dysmotility, anhidrosis, sicca syndrome, and impairment of the pupillary light reflex. In the majority of patients the disease is idiopathic but it can be paraneoplastic in 15% of patients. Diplopia is not a reported complaint in patients with AAG; we therefore believe that she had a combination of AAG and an atypical pattern of myasthenia gravis, which was not confirmed by AchR antibodies, sfEMG or edrophonium testing.