Neuromyelitis Optica (Devic's Syndrome) in Two Sisters

Abstract

Neuromyelitis optica (Devic's syndrome) typically occurs in a sporadic pattern. We studied the disorder in two sisters, ages 6 and 10 years, who presented with sudden loss of vision at age 3 years, followed 5 months later by a transverse myelopathy. The older girl had only light perception in either eye, persistent paraparesis and progressive scoliosis; her sister had a visual acuity of 20/200 in both eyes and mild spinal cord dysfunction. Results of electrodiagnostic tests correlated well with the severity of clinical neurologic deficits and provided objective estimates of the extent of tissue damage in both the optic nerves and the spinal cord. The presence of Devic's syndrome in these two sisters could be coincidental; however, the possibility of a shared genetic factor(s) should be considered.

Neuromyelitis Optica in Japanese Sisters

“…HLA-DRB1*03 was associated with NMO-IgG-seropositive NMO (16). The HLA type has been reported to be similar in sisters with NMO in 2 families (6)(7)(8). In the present cases, the sisters shared some immunogenetic factors because their HLA type was similar.…”

“…The second case of sisters in 1982 described 2 younger sisters who developed NMO at ages 3 years and 2 years 9 months. The HLA type of the elder sister was A1, 2, BW35, W40, and BW622 and that of the younger sister was A1, XBW35, and YBW622 (6). In another case of sisters, the women developed NMO at ages 62 and 59 years (7).…”

“…The incidence of human leukocyte antigen (HLA)-DPB1*0501 was significantly increased in anti-AQP4Ab-positive Japanese patients as compared with healthy controls, but not in anti-AQP4Ab-negative OSMS patients (4). Furthermore, cases of familial NMO have been reported suggesting genetic influence (5)(6)(7)(8)(9). The mechanism of NMO is speculated to be associated with humoral immunity, but still remains to be fully elucidated (4,10,11).…”

Neuromyelitis optica: Effect of gender

“…Neuromyelitis optica has been considered a sporadic disorder and, until recently, very few familial cases of neuromyelitis optica had been reported; all were female [47][48][49][50]. Mitochondrial inheritance has been evaluated with negative results [51,52] although there are case reports of females with neuromyelitis optica and a mitochondrial mutation and speculation continues about the relationship [53][54][55].…”

Familial neuromyelitis optica

“…14 These reports were followed by those of 2 infant sisters (age 2 and 3 at onset) who had relapses of bilateral ON and thoracic myelitis 15 ; of 2 sisters with late onset of NMO (62 and 59) 16 ; and of a daughter (aged 29 at onset) with myasthenia gravis and NMO and a mother (62 years at onset) with NMO-IgG seropositive NMO. 17 Recently, 2 sisters, 1 with NMO and 1 with prototypic MS, were reported.…”