536253
case-report2014
MSJ0010.1177/1352458514536253Multiple Sclerosis JournalX Ayrignac, C Carra Dalière
MULTIPLE SCLEROSIS MSJ JOURNAL
Case Report
Extensive cerebral white matter involvement in a patient with NMO spectrum disorder Xavier Ayrignac, Clarisse Carra Dalière, Elodie Nerrant, Thierry Vincent, Jérôme De Seze and Pierre Labauge
Multiple Sclerosis Journal 2014, Vol. 20(10) 1401–1403 DOI: 10.1177/ 1352458514536253 © The Author(s), 2014. Reprints and permissions: http://www.sagepub.co.uk/ journalsPermissions.nav
Abstract: Abnormal brain MRI has been described in up to 60% of patients with NMO patients. However, white matter T2 hyperintensities have been rarely observed. We report the case of a 49-year-old woman with long-lasting neuromyelitis optica (NMO) spectrum disorder and diffuse cerebral white matter T2-weighted hyperintensities. Our case suggests that some NMO patients can progressively develop l extensive cerebral involvement. Keywords: Neuromyelitis Optica, Devic’s syndrome, white matter disease Date received: 27 February 2014; accepted: 21 April 2014 Background Neuromyelitis optica (NMO), also known as Devic’s disease, is an inflammatory demyelinating disease of the central nervous system mainly characterized by severe episodes of transverse myelitis and optic neuritis and the presence of NMO-IgG directed toward the aquaporin-4 (AQP4) water channel.1 Its distinction from multiple sclerosis (MS) and other white matter disorders is important since prognosis and treatments are different. NMO diagnosis is supported by a normal brain MRI.2 However, it has been emphasized that brain MRI is abnormal in up to 60% of NMO patients.3 We present a NMO patient with extensive cerebral involvement. Case report A 49-year-old Caucasian woman presented with a recent episode of transverse myelitis. She had a history of relapsing lower limb paraparesis (at the ages of 34, 45 and 47, with good clinical recovery) alternating with episodes of bilateral optic neuritis (with a frequency of about one optic neuritis episode/year with variable responses to pulse intravenous methylprednisolone leaving her with left blindness) for the last 20 years. At age 48, she presented with paraplegia recurrence associated with urinary retention. Her visual acuity was 20/40 in the right eye and she had no perception of light in the left eye. Anterior segment in both eyes was
unremarkable and fundus disclosed bilateral optic atrophy. A spinal cord MRI showed a marked central T2-hyperintensity from level C7 to T9 (Figure 1(a)). A brain MRI showed extensive T2 and FLAIR white matter hyperintensities (predominant in the temporal lobes), associated with partial basal ganglia involvement (Figure 1 (b–e)). There was no post-contrast enhancement (Figure 1 (f)). Electroneuromyography was normal. Cerebrospinal fluid analysis was normal in absence of oligoclonal bands. Molecular and biochemical studies in search for CADASIL (NOTCH3 gene sequencing) and inborn errors of metabolism (including GBE1 gene molecular screening for adult polyglucosan body disease) and systemic diseases (performed because of the extensive brain MRI abnormalities) were normal. Serum anti-AQP4 antibodies were positive confirming the diagnosis of NMO. Pulse intravenous methylprednisolone treatment was given followed by oral aziathioprine (2 mg/Kg/d). Progressive clinical recovery was seen with the absence of relapses during a 1-year follow-up.
Correspondence to: Xavier Ayrignac CHU Montpellier, Hôpital Gui De Chauliac, 80 Av Augustin, FLICHE 34295, Montpellier, France. [email protected] Xavier Ayrignac Clarisse Carra Dalière Elodie Nerrant Pierre Labauge Thierry Vincent CHU Montpellier, France Jérôme De Seze CHRU Strasbourg, France
Discussion Our patient with long lasting NMO showed extensive brain white matter abnormalities. Previously, it had been believed that brain abnormalities in NMO were rare and moderate.4 However, the first large series analyzing the cerebral MRI of patients with NMO identified abnormalities in 60% of the patients. In 10% of the whole cohort, lesions were
http://msj.sagepub.com 1401
Multiple Sclerosis Journal 20(10)
Figure 1. Spinal cord MRI performed 20 years after disease onset shows an extensive myelitis from C7 to T9 on sagittal T2. (a) Cerebral axial FLAIR sequences. (b–d) Disclose extensive white matter hyperintensities. (e, f) Cerebral MRI 15 years prior showed no white matter lesion but a left striatal punctiform FLAIR hyperintensity.
considered to be suggestive of MS whereas few patients had extensive, usually asymmetric, cerebral white matter lesions.1 Cerebral involvement was more recently confirmed by other studies that identified cerebral lesions in 10–80% of the patients depending on the inclusion criteria and the ethnic background.5 Cerebral lesions are usually identified on cerebral MRI within the periependymal spaces, brainstem and diencephalon. They typically have a non-specific T2-hyperintense appearance but a distinctive cloud-like appearance on post-contrast T1 weighted images has been reported,6 often sparing the cortex and the perivenular area. If edematous lesions in NMO can be seen extensive symmetrical involvement of the cerebral white matter, as seen in our patient, has been rarely described.7
aspect or edematous lesions. Additionally, our report suggests that in some patients with longstanding NMO, brain MRI can strikingly mimic inherited leukodystrophies with extensive and symmetrical white matter involvement.
Conclusion Brain MRI abnormalities in NMO are usually subtle and non-specific. They are mostly restricted to specific areas of high AQP4 expression and may have a post-contrast cloud-like aspect. MRI of patients with NMO may show unusual findings such as MS-like
1. Wingerchuk DM, Lennon VA, Lucchinetti CF, et al. The spectrum of neuromyelitis optica. Lancet Neurol 2007; 6: 805–815.
Conflict of interest The authors declare that there is no conflict of interest. Funding This research received no specific grant from any funding agency in the public, commercial, or not-forprofit sectors.
References
2. Wingerchuk DM, Hogancamp WF, O’Brien PC, et al. The clinical course of neuromyelitis optica (Devic’s syndrome). Neurology 1999; 53: 1107–1114.
1402 http://msj.sagepub.com
X Ayrignac, C Carra Dalière et al. 3. Pittock SJ, Lennon VA, Krecke K, et al. Brain abnormalities in neuromyelitis optica. Arch Neurol 2006; 63: 390–396. 4. de Seze J, Blanc F, Kremer S, et al. Devic’s neuromyelitis optica: Clinical, laboratory, MRI and outcome profile. J Neurol Sci 2002; 197: 57–61. 5. Collongues N, Marignier R, Zéphir H, et al. Neuromyelitis optica in France: A multicenter study
of 125 patients. Neurology 2010; 74: 736–742. 6. Ito S, Mori M, Makino T, et al. “Cloud-like enhancement” is a magnetic resonance imaging abnormality specific to neuromyelitis optica. Ann Neurol 2009; 66: 425–428. 7. Guimarães J and Sá MJ. Devic disease with abnormal brain magnetic resonance image findings: The first Portuguese case. Arch Neurol 2007; 64: 290–291.
Visit SAGE journals online http://msj.sagepub.com
SAGE journals
http://msj.sagepub.com 1403
Copyright of Multiple Sclerosis Journal is the property of Sage Publications, Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
case-report2014
MSJ0010.1177/1352458514536253Multiple Sclerosis JournalX Ayrignac, C Carra Dalière
MULTIPLE SCLEROSIS MSJ JOURNAL
Case Report
Extensive cerebral white matter involvement in a patient with NMO spectrum disorder Xavier Ayrignac, Clarisse Carra Dalière, Elodie Nerrant, Thierry Vincent, Jérôme De Seze and Pierre Labauge
Multiple Sclerosis Journal 2014, Vol. 20(10) 1401–1403 DOI: 10.1177/ 1352458514536253 © The Author(s), 2014. Reprints and permissions: http://www.sagepub.co.uk/ journalsPermissions.nav
Abstract: Abnormal brain MRI has been described in up to 60% of patients with NMO patients. However, white matter T2 hyperintensities have been rarely observed. We report the case of a 49-year-old woman with long-lasting neuromyelitis optica (NMO) spectrum disorder and diffuse cerebral white matter T2-weighted hyperintensities. Our case suggests that some NMO patients can progressively develop l extensive cerebral involvement. Keywords: Neuromyelitis Optica, Devic’s syndrome, white matter disease Date received: 27 February 2014; accepted: 21 April 2014 Background Neuromyelitis optica (NMO), also known as Devic’s disease, is an inflammatory demyelinating disease of the central nervous system mainly characterized by severe episodes of transverse myelitis and optic neuritis and the presence of NMO-IgG directed toward the aquaporin-4 (AQP4) water channel.1 Its distinction from multiple sclerosis (MS) and other white matter disorders is important since prognosis and treatments are different. NMO diagnosis is supported by a normal brain MRI.2 However, it has been emphasized that brain MRI is abnormal in up to 60% of NMO patients.3 We present a NMO patient with extensive cerebral involvement. Case report A 49-year-old Caucasian woman presented with a recent episode of transverse myelitis. She had a history of relapsing lower limb paraparesis (at the ages of 34, 45 and 47, with good clinical recovery) alternating with episodes of bilateral optic neuritis (with a frequency of about one optic neuritis episode/year with variable responses to pulse intravenous methylprednisolone leaving her with left blindness) for the last 20 years. At age 48, she presented with paraplegia recurrence associated with urinary retention. Her visual acuity was 20/40 in the right eye and she had no perception of light in the left eye. Anterior segment in both eyes was
unremarkable and fundus disclosed bilateral optic atrophy. A spinal cord MRI showed a marked central T2-hyperintensity from level C7 to T9 (Figure 1(a)). A brain MRI showed extensive T2 and FLAIR white matter hyperintensities (predominant in the temporal lobes), associated with partial basal ganglia involvement (Figure 1 (b–e)). There was no post-contrast enhancement (Figure 1 (f)). Electroneuromyography was normal. Cerebrospinal fluid analysis was normal in absence of oligoclonal bands. Molecular and biochemical studies in search for CADASIL (NOTCH3 gene sequencing) and inborn errors of metabolism (including GBE1 gene molecular screening for adult polyglucosan body disease) and systemic diseases (performed because of the extensive brain MRI abnormalities) were normal. Serum anti-AQP4 antibodies were positive confirming the diagnosis of NMO. Pulse intravenous methylprednisolone treatment was given followed by oral aziathioprine (2 mg/Kg/d). Progressive clinical recovery was seen with the absence of relapses during a 1-year follow-up.
Correspondence to: Xavier Ayrignac CHU Montpellier, Hôpital Gui De Chauliac, 80 Av Augustin, FLICHE 34295, Montpellier, France. [email protected] Xavier Ayrignac Clarisse Carra Dalière Elodie Nerrant Pierre Labauge Thierry Vincent CHU Montpellier, France Jérôme De Seze CHRU Strasbourg, France
Discussion Our patient with long lasting NMO showed extensive brain white matter abnormalities. Previously, it had been believed that brain abnormalities in NMO were rare and moderate.4 However, the first large series analyzing the cerebral MRI of patients with NMO identified abnormalities in 60% of the patients. In 10% of the whole cohort, lesions were
http://msj.sagepub.com 1401
Multiple Sclerosis Journal 20(10)
Figure 1. Spinal cord MRI performed 20 years after disease onset shows an extensive myelitis from C7 to T9 on sagittal T2. (a) Cerebral axial FLAIR sequences. (b–d) Disclose extensive white matter hyperintensities. (e, f) Cerebral MRI 15 years prior showed no white matter lesion but a left striatal punctiform FLAIR hyperintensity.
considered to be suggestive of MS whereas few patients had extensive, usually asymmetric, cerebral white matter lesions.1 Cerebral involvement was more recently confirmed by other studies that identified cerebral lesions in 10–80% of the patients depending on the inclusion criteria and the ethnic background.5 Cerebral lesions are usually identified on cerebral MRI within the periependymal spaces, brainstem and diencephalon. They typically have a non-specific T2-hyperintense appearance but a distinctive cloud-like appearance on post-contrast T1 weighted images has been reported,6 often sparing the cortex and the perivenular area. If edematous lesions in NMO can be seen extensive symmetrical involvement of the cerebral white matter, as seen in our patient, has been rarely described.7
aspect or edematous lesions. Additionally, our report suggests that in some patients with longstanding NMO, brain MRI can strikingly mimic inherited leukodystrophies with extensive and symmetrical white matter involvement.
Conclusion Brain MRI abnormalities in NMO are usually subtle and non-specific. They are mostly restricted to specific areas of high AQP4 expression and may have a post-contrast cloud-like aspect. MRI of patients with NMO may show unusual findings such as MS-like
1. Wingerchuk DM, Lennon VA, Lucchinetti CF, et al. The spectrum of neuromyelitis optica. Lancet Neurol 2007; 6: 805–815.
Conflict of interest The authors declare that there is no conflict of interest. Funding This research received no specific grant from any funding agency in the public, commercial, or not-forprofit sectors.
References
2. Wingerchuk DM, Hogancamp WF, O’Brien PC, et al. The clinical course of neuromyelitis optica (Devic’s syndrome). Neurology 1999; 53: 1107–1114.
1402 http://msj.sagepub.com
X Ayrignac, C Carra Dalière et al. 3. Pittock SJ, Lennon VA, Krecke K, et al. Brain abnormalities in neuromyelitis optica. Arch Neurol 2006; 63: 390–396. 4. de Seze J, Blanc F, Kremer S, et al. Devic’s neuromyelitis optica: Clinical, laboratory, MRI and outcome profile. J Neurol Sci 2002; 197: 57–61. 5. Collongues N, Marignier R, Zéphir H, et al. Neuromyelitis optica in France: A multicenter study
of 125 patients. Neurology 2010; 74: 736–742. 6. Ito S, Mori M, Makino T, et al. “Cloud-like enhancement” is a magnetic resonance imaging abnormality specific to neuromyelitis optica. Ann Neurol 2009; 66: 425–428. 7. Guimarães J and Sá MJ. Devic disease with abnormal brain magnetic resonance image findings: The first Portuguese case. Arch Neurol 2007; 64: 290–291.
Visit SAGE journals online http://msj.sagepub.com
SAGE journals
http://msj.sagepub.com 1403
Copyright of Multiple Sclerosis Journal is the property of Sage Publications, Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use.
