Pediatric familial neuromyelitis optica in two sisters with long term follow-up

Miguel Chuquilin, Naresh Mullaguri, Brian G Weinshenker

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Neuromyelitis optica causes bilateral optic neuritis and longitudinal extensive transverse myelitis. Although usually sporadic, 3% of cases of neuromyelitis optica are familial. The interval over which attacks continue and the long term prognosis for pediatric-onset neuromyelitis optica are not well defined. We describe two patients with pediatric familial neuromyelitis optica with the longest clinical follow-up of a pediatric case reported in the literature to our knowledge. One woman developed blindness with bilateral eye involvement within a few weeks at age 3. This was followed by transverse myelitis with paraparesis at age 19 leading to diagnosis of neuromyelitis optica. Her serum anti-aquaporin 4 antibody was later found to be positive. She continued with sporadic myelitis-related relapses but remained ambulant until age 40 when she had a more severe relapse. There was evidence of longitudinal extensive T2 hyperintensity in the thoracic spinal cord. Her sister also developed blindness at age 3.5 followed by myelitis 1. year later with multiple relapses of gait impairment until her death from pneumonia at age 21. These patients represent the rare occurrence of neuromyelitis optica in children within the same family and show that this disease can have prolonged periods of remission but a continued tendency to relapse, supporting the need for lifelong immunosuppression.

Original languageEnglish (US)
JournalJournal of Clinical Neuroscience
StateAccepted/In press - Oct 20 2015


  • Autoimmune disease
  • Demyelinating disease
  • Devic's syndrome
  • Neuromyelitis optica
  • Optic neuritis
  • Transverse myelitis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Physiology (medical)


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