Guillain-Barre syndrome and multiple sclerosis are well described conditions involving inflammatory demyelination and axonal injury in the peripheral and central nervous system, respectively. Cases of pediatric patients presenting with both syndromes are exceedingly rare. Optic neuritis has been reported as in association with CIDP. Recently, there have also been reports of MOG antibodies in combined central and peripheral demyelination syndromes.
We report a pediatric patient with two episodes of right optic neuritis and demyelinating brain lesions, meeting criteria for relapsing remitting multiple sclerosis. Notably, she presented 3 years prior with acute motor axonal neuropathy and was being maintained on scheduled IVIG at the time of her initial presentation with optic neuritis.
Case report featuring clinical presentation, laboratory, EMG/NCS and neuroimaging results, with discussion of medical decision making, differential diagnosis, and therapies utilized.
A 16-year-old African-American girl presented at age 13 with right hand and left leg weakness that progressed to inability to walk. CSF studies demonstrated albuminocytologic dissociation and spine MRI showed abnormal enhancement and thickening of ventral roots of the cauda equina. EMG/NCS showed conduction block in median, ulnar, tibial and peroneal nerves. MRI brain was normal. She was ultimately diagnosed with acute motor conduction block neuropathy vs. acute onset chronic inflammatory demyelinating disease with axonal involvement. She was acutely treated with IVIG and plasma exchange, and continued on IVIG, initially at every 3 week intervals, gradually spaced to every 8 weeks.
At age 16, she developed right eye pain and vision loss and was found to have optic neuritis and multiple supratentorial white matter lesions favored to represent demyelination. CSF revealed 7 WBCs/mm3, protein 171 mg/dL, and 2 unmatched oligoclonal bands. She was diagnosed with clinically isolated syndrome and treated with IV steroids with improvement. Anti-MOG titer was weakly positive at 1:20 but repeat testing 1 month later was negative. 3 months later, she developed recurrent right optic neuritis and new brain demyelination, meeting criteria for relapsing remitting multiple sclerosis.
Our case highlights the rare existence of peripheral and central nervous system demyelination in a pediatric patient without a clear unifying cause. Weakly positive anti MOG titer normalized rapidly and oligoclonal bands were borderline. A second attack of optic neuritis and new brain demyelination satisfied multiple sclerosis diagnostic criteria. This case represents an unusual presentation with isolated peripheral nervous system disease 3 years prior to developing central nervous system involvement. It is unclear if these occurrences are coincidental or have shared pathological mechanisms.