Case Presentation:
A 23 year old female with no significant medical history presented to another hospital with progressive paresthesisas and lower extremity weakness for 6 weeks. Within 24 hours of admission she rapidly declined, requiring intubation and mechanical ventilation. She was sent to our facility for further management. On arrival she had flaccid, areflexic quadriparesis and bilateral iridoplegia. Within 48 hours she lost all brainstem reflexes. Lumbar puncture revealed an opening pressure of 20 cm H2O, with CSF containing 9 RBCs, 4 WBCs, glucose of 65 mg/dL, protein of 52 mg/dL, myelin basic protein >120 ng/mL, and no oligoclonal bands. MRI brain showed no significant abnormality initially. IVIG therapy was initiated. On day 2, repeat MRI brain showed increased T2 signal in the periventricular white matter involving the fronto-parietal regions. On day 6, MRI of the brain showed extensive FLAIR hyperintensities within subcortical and periventricular white matter of both cerebral hemispheres and right cerebellum. ADEM was favored given the radiological findings. Extensive work up for herpes simplex virus, Epstein-Barr virus, varicella zoster virus, cytomegalovirus, west nile virus, rabies, cryptococcus, nocardia, and autoimmune disease was all negative. Electromyography and nerve conduction studies indicated severe sensory/motor polyneuropathy. Brain and sural nerve biopsies were consistent with demyelinating disease. Plasmapheresis and cyclophosphamide was added to IVIG and IV steroid therapy. Coma persisted until hospital day 28, when she had spontaneous eye movement, jaw movement, and intact corneal reflexes. By discharge (hospital day 62), she was fully oriented and able to converse appropriately. Cranial nerves were intact. She was able to shrug shoulders, but no movement of lower extremities was noted. Sensation was intact in face, bilateral upper extremities, and to trunk level of T6 dermatome. Patient was discharged to a rehab facility and has continued to improve at 1 month follow-up.
Discussion:
Acute disseminating encephalomyelitis (ADEM) is an uncommon, rapidly progressive autoimmune demyelinating disease of the central nervous system. Peripheral nervous system involvement is atypical, and presentations with simultaneous Guillain-Barre syndrome are rare. Due to the lack of pathognomonic clinical features or specific biomarkers, it is important to include ADEM in the differential diagnosis if both central and peripheral nervous system involvement is suspected. It can be challenging to differentiate ADEM from other similar neurologic conditions, such as infective causes of meningoencephalitis or multiple sclerosis. Additionally, it is important to note that during the initial course of the disease, MRI of the brain can be normal, as in the case of our patient. Proper work up, resulting in early diagnosis and treatment, holds the key for a favorable clinical outcome.
Conclusions:
In view of the rarity of ADEM with simultaneous peripheral demyelination, there is no consensus in the literature for an effective therapeutic regimen and known clinical outcomes. The diagnostic and therapeutic complexity in caring for patients with combined peripheral and central demyelinating illness is a major challenge. Our patient showed remarkable neurological recovery after combination therapy with steroids, IVIG, plasmapheresis, and cyclophosphamide. Thus, it behooves one to treat these cases aggressively, as outcome can be favorable.