Tiffany Braley1, Daniel D Mikol. 1. Department of Neurology, University of Michigan, 1500 E Medical Center Dr, Ann Arbor, MI 48109, USA. tbraley@med.umich.edu
Abstract
BACKGROUND: Neuromyelitis optica (NMO) is a rare demyelinating disease of the central nervous system that most often results in selective involvement of the optic nerves and spinal cord. Although most cases are sporadic, several familial cases have been reported. All of those patients have been siblings who experienced disease onset at similar ages. To our knowledge, there has not been a documented case between a mother-daughter pair, nor has there been a reported case in which family members developed the disease at different stages of life. OBJECTIVES: To illustrate the clinical courses of NMO in a white mother-daughter pair, which supports a hereditary predisposition to this disorder, as well as to reinforce that onset of disease can occur at different ends of the age spectrum even within the same family. Design, Setting, and Patients Case report of a mother-daughter pair with NMO treated at the University of Michigan Medical Center. RESULTS: After multiple occurrences of optic neuritis and transverse myelitis as well as extensive workups, both mother and daughter were eventually diagnosed with NMO but with different ages at onset, at ages 62 and 29 years, respectively. CONCLUSIONS: Development of NMO is in part genetically influenced. Our familial cases show that NMO may differ clinically within a family. While current diagnostic criteria include an extensive spinal cord lesion, the second case (mother) illustrates that milder cases of NMO might not fulfill that requirement, in which case NMO-IgG antibody seropositivity may confirm the diagnosis.
BACKGROUND:Neuromyelitis optica (NMO) is a rare demyelinating disease of the central nervous system that most often results in selective involvement of the optic nerves and spinal cord. Although most cases are sporadic, several familial cases have been reported. All of those patients have been siblings who experienced disease onset at similar ages. To our knowledge, there has not been a documented case between a mother-daughter pair, nor has there been a reported case in which family members developed the disease at different stages of life. OBJECTIVES: To illustrate the clinical courses of NMO in a white mother-daughter pair, which supports a hereditary predisposition to this disorder, as well as to reinforce that onset of disease can occur at different ends of the age spectrum even within the same family. Design, Setting, and Patients Case report of a mother-daughter pair with NMO treated at the University of Michigan Medical Center. RESULTS: After multiple occurrences of optic neuritis and transverse myelitis as well as extensive workups, both mother and daughter were eventually diagnosed with NMO but with different ages at onset, at ages 62 and 29 years, respectively. CONCLUSIONS: Development of NMO is in part genetically influenced. Our familial cases show that NMO may differ clinically within a family. While current diagnostic criteria include an extensive spinal cord lesion, the second case (mother) illustrates that milder cases of NMO might not fulfill that requirement, in which case NMO-IgG antibody seropositivity may confirm the diagnosis.
Authors: M Matiello; H J Kim; W Kim; D G Brum; A A Barreira; D J Kingsbury; G T Plant; T Adoni; B G Weinshenker Journal: Neurology Date: 2010-07-27 Impact factor: 9.910