Appendix e-1: Case Reports
Case 1 seronegative NMO: At age 5 yearspatient 1, a female, developed after a prolonged rhinitis headaches and fever followed by paresis of both legs and bladder dysfunction. Cranial MRI showed large cloudy white matter lesions and spinal MRI demonstrated large longitudinal lesions. Followinga course of high dose steroids she recovered fully. 9 weeks latershe presented with bilateral optic neuritis and was again successfully treated with steroids with full resolution of symptoms. She has remained symptom free to date, 2 years after the second episode.
Case 2 seronegative NMO:Two weeks following a chickenpox infectionpatient 2, a male, developed at age 14 bilateral optic neuritis, bladder and sphincter dysfunction as well as sensory and motor paresis of the arms and legs. Cranial MRI was normal while spinal MRI showed extensive longitudinal lesions with contrast enhancement. He received 3 days of high dose steroids. During the following month he recovered almost completely, a right sided mild reduction in vision remains.No relapse has occurred in 3 years of follow up.
Case 3 seronegative NMO: Patient 3 developed at age 9 years an acute paraplegia. Spinal MRI showed a spinal mass and a biopsy was performed which confirmed amyelitis. She received a course of high dose steroids and recovered fully. 4 weeks after the biopsy was taken she re-presented with bilateral optic neuritis. Cranial MRI at the time was normal. Again her symptoms resolved following steroid treatment. 6 years later she presented a third time with right sided vision loss. Cranial MRI was again normal and the symptoms disappeared after steroids. The patient is now 17 years old and symptom free.
Case 4 seronegative NMO: Patient 4 presented at age 6 years with headaches and fever followed 3 weeks later by paraparesis and a bilateral optic neuritis. Cranial MRI revealed bilateral contrast enhancement of the optic nerves but was otherwise normal. Spinal MRI showed inflammatory lesions affecting most of the spinal cord. She was treated with two courses of high dose steroids and, following no improvement in right sided vision, with plasmapheresis. Currently 5 months after the onset of symptoms her paraparesis has recovered completely, however a reduced vision of the right eye persists.
Case 5 seronegative NMO: Patient 5 presented at age 11 years with fever, vision loss, and paraesthesia of the right hand. Cranial MRI showed bilateral nonspecific lesions of the basal ganglia and CSF demonstrated pleocytosis. He was treated with antibiotics and acyclovir and his symptoms gradually improved. 26 days after the first attack, he presented with bilateral paralysis and paraesthesia of arms and legs and bladder dysfunction. Spinal MRI showed LETM. He was treated with steroids for 5 days and his symptoms resolved fully. No relapse has occurred in 2 years follow up
Case 6 seropositive NMO: Patient 6, the only NMO patient found positive for NMO-IgG, first presented at age 14 with fever, headaches, vomiting, right sided retrobulbar pain and vision loss. Cranial MRI showed disseminated large cloudy lesions in the white matter, some with contrast enhancement. High dose steroids were administered resulting in some improvement but no full recovery was made. A second presentation followed 10 months later also with headaches and vomiting, however this time with left sided optic neuritis. Cranial MRI showed new cloudy lesions while a spinal MRI at the time was normal. A course of high dose steroids resulted in almost complete recovery. 5 months later she suffered a 3rd relapse with paraesthesia of the abdomen and both palms. Symptoms disappeared after a course of oral steroids. Over the subsequent years she experienced 1-2 relapses annually involving bilateral paresis of the arms or legs with almost complete resolution of symptoms upon steroid treatment. Most of these relapses were preceded by a minor infection. At age 19, following a chicken pox infection, she suffered a very severe relapse with tetraparesis and bilateral vision loss. No recovery was made and she remained bedridden, blind, unable to swallow and ventilated at night time. Death occurred at age 21 following a further severe relapse.
Case 7 seropositive ON: Patient 7 developed at age 13 frequent headaches and concentration problems at school. Half a year later she experienced right sided visual loss. Cranial MRI at the time was normal. She received a course of steroids and her vision recovered completely. 3 weeks later she presented with left sided visual loss accompanied by abdominal pain and vomiting. Cranial MRI demonstrated disseminated cloudy white matter lesions. She again was treated with steroids but visual recovery was incomplete. Follow up MRI one year after the initial symptomshas shown complete resolution of the cranial lesions and no spinal lesions.