scholarly journals Simultaneous new onset of neuromyelitis optica spectrum disorder in identical twins

2021 ◽  
Vol 3 (2) ◽  
pp. e000174
Author(s):  
Ivo Bekavac ◽  
Matea Matejic ◽  
Riley J Woods ◽  
John I Halloran
Keyword(s):  
Spinal Cord ◽  
White Matter ◽  
Neuromyelitis Optica ◽  
Cervical Spinal Cord ◽  
Identical Twins ◽  
Spectrum Disorder ◽  
Cerebral White Matter ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Csf Analysis ◽  
The Brain

ObjectiveTo present a case of two identical twins presenting concurrently with symptoms and subsequent initial diagnosis of neuromyelitis optica spectrum disorder (NMOSD).MethodsClinical, laboratory and MRI findings for both twins were reviewed and presented here.ResultsTwin A presented with right eye pain and subsequent blurred vision in right eye. MRI of the brain and spine demonstrated pre-chiasmal right optic nerve enhancement and T2 hyperintense lesions in the spinal cord at T7 and T9 levels. Cerebrospinal fluid (CSF) analysis was remarkable for NMO/aquaporin-4 (AQP4) fluorescence-activated cell sorting (FACS) titre of 1:32 and a serum NMO/AQP4-IgG positive titre of 1:10 000. Twin B presented with diplopia. MRI of the brain and spine demonstrated T2 hyperintense lesions in the periventricular cerebral white matter, in the periaqueductal white matter of the pons, in the midbrain and the cervical spinal cord. Neurological examination findings revealed incomplete right trochlear palsy, rotatory nystagmus, an incomplete left internuclear ophthalmoplegia and hyper-reflexia. CSF analysis was remarkable for NMO/AQP4 FACS titre of 1:256 and a serum NMO-IgG positive titre of 1:10 000. Both twins responded well to intravenous steroid therapy. There was no adverse environmental exposure present.ConclusionWe present an interesting and rare case of identical twins presenting concurrently and for the first time with NMOSD.

scholarly journals A case of pathology-proven neuromyelitis optica spectrum disorder with Sjögren syndrome manifesting aphasia and apraxia due to a localized cerebral white matter lesion

2014 ◽  
Vol 20 (10) ◽  
pp. 1413-1416 ◽  
Author(s):  
Jun Sawada ◽  
Ryosuke Orimoto ◽  
Tatsuro Misu ◽  
Takayuki Katayama ◽  
Hitoshi Aizawa ◽  
...  
Keyword(s):  
White Matter ◽  
Neuromyelitis Optica ◽  
White Matter Lesion ◽  
Sjögren Syndrome ◽  
Spectrum Disorder ◽  
Cerebral White Matter ◽  
Sjogren Syndrome ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Aqp4 Antibody ◽  
Cerebral White Matter Lesion

A woman with Sjögren syndrome manifesting as aphasia with a left deep cerebral white matter lesion tested positive for anti-aquaporin 4 (AQP4) antibody. Open biopsy of the lesion revealed active demyelination with edematous changes and the preservation of most axons, indicating a non-necrotic demyelinating lesion. Immunostaining for AQP4 was diffusely lost, whereas the loss of glial fibrillary acidic protein immunostaining was limited but with highly degenerated astrocytic foot processes in perivascular areas. These results suggested neuromyelitis optica spectrum disorder (NMOSD) pathology rather than Sjögren-related vasculitis. Only cerebral cortical symptoms with a cerebral white matter lesion could be observed in NMOSDs.

Cortical oscillopsia without nystagmus, an isolated symptom of neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibody

2011 ◽  
Vol 18 (2) ◽  
pp. 244-247 ◽  
Author(s):  
Sung-Min Kim ◽  
Ji-Soo Kim ◽  
Young Eun Heo ◽  
Hye-Ran Yang ◽  
Kyung Seok Park
Keyword(s):  
Spinal Cord ◽  
Neuromyelitis Optica ◽  
Spectrum Disorder ◽  
Aquaporin 4 ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Ocular Manifestation ◽  
Initial Manifestation ◽  
Ocular Symptoms ◽  
Head Tremor ◽  
Aquaporin 4 Antibody

Neuromyelitis optica (NMO), mainly affecting optic nerve and spinal cord, can also manifest diverse ocular symptoms due to brain abnormalities. We present a cortical oscillopsia without nystagmus or head tremor in a patient with neuromyelitis optica spectrum disorder (NMOSD) with anti-aquaporin 4 antibody. This rare ocular manifestation, which is easily underestimated owing to absence of the typical nystagmus, can be an initial manifestation of NMOSD.

scholarly journals Neuromyelitis Optica Spectrum Disorder Coinciding with Spinocerebellar Ataxia Type 31

2017 ◽  
Vol 9 (2) ◽  
pp. 127-130
Author(s):  
Yoshiaki Takahashi ◽  
Yasuhiro Manabe ◽  
Ryuta Morihara ◽  
Hisashi Narai ◽  
Toru Yamashita ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Neuromyelitis Optica ◽  
Cerebellar Atrophy ◽  
Spectrum Disorder ◽  
Spinocerebellar Ataxia Type ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Inflammatory Processes ◽  
Thoracic Cord ◽  
The Brain ◽  
Cerebellar Symptoms

We report the unusual case of a 63-year-old man with spinocerebellar ataxia (SCA) type 31 who developed neuromyelitis optica spectrum disorder (NMOSD) 14 years after the onset of cerebellar symptoms. In addition to cerebellar atrophy, magnetic resonance imaging showed multiple high-intensity areas in the brain and a long thoracic cord lesion from Th1/2 to Th11. The combination of NMOSD and SCA31 is accidental. However, our case suggests that inflammatory processes could be involved in the pathogenesis of NMOSD and SCA31.

scholarly journals Paraneoplastic AQP4-IgG–Seropositive Neuromyelitis Optica Spectrum Disorder Associated With Teratoma

2021 ◽  
Vol 8 (5) ◽  
pp. e1045
Author(s):  
Ryotaro Ikeguchi ◽  
Yuko Shimizu ◽  
Ayato Shimomura ◽  
Miki Suzuki ◽  
Kanoko Shimoji ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Neuromyelitis Optica ◽  
Neural Tissue ◽  
Spectrum Disorder ◽  
Lower Limbs ◽  
Ovarian Teratoma ◽  
Cerebral Peduncle ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Lymphocyte Infiltration ◽  
Sensory Dysfunction

ObjectivesTo assess a case of paraneoplastic aquaporin-4 (AQP4)-immunoglobulin G (IgG)–seropositive neuromyelitis optica spectrum disorder (NMOSD) associated with teratoma and determine whether it is a paraneoplastic neurologic disorder.MethodsA single case study and literature review of 5 cases.ResultsA 27-year-old woman presented with diplopia, facial nerve palsy, paraplegia, sensory dysfunction of lower limbs, dysuria, nausea, and vomiting. Spinal cord MRI detected an extensive longitudinal lesion in the spinal cord, and brain MRI detected abnormal lesions in the right cerebral peduncle and tegmentum of the pons. CSF analysis revealed positive oligoclonal IgG bands (OCBs). The patient tested positive for AQP4-IgG, confirming a diagnosis of NMOSD. An abdominal CT scan detected an ovarian tumor. After steroid therapy and tumor removal, the patient progressively improved, with only mild sensory dysfunction. Histopathologic analysis of the tumor revealed a teratoma and the presence of glial fibrillary acidic protein (GFAP)+ neural tissue with AQP4 immunoreactivity, accompanied by lymphocyte infiltration. Including the present case, there have been 6 reported cases of AQP4-IgG–seropositive NMOSD associated with ovarian teratoma (mean onset age, 32.7 years). Of these patients, 5 (83%) presented with nausea and/or vomiting, positive OCB, and dorsal brainstem involvement. Pathologic analyses of the teratoma were available in 5 cases, including the present case, revealing neural tissue with AQP4 immunoreactivity and lymphocyte infiltration in all cases.ConclusionsThis study suggests that ovarian teratoma may trigger the development of AQP4-IgG–seropositive NMOSD. Further studies are needed to elucidate the pathogenesis of teratoma-associated NMOSD.

Normal-appearing white matter demyelination in neuromyelitis optica spectrum disorder

2017 ◽  
Vol 24 (4) ◽  
pp. 652-658 ◽  
Author(s):  
I. H. Jeong ◽  
J. Y. Choi ◽  
S.-H. Kim ◽  
J.-W. Hyun ◽  
A. Joung ◽  
...  
Keyword(s):  
White Matter ◽  
Neuromyelitis Optica ◽  
Spectrum Disorder ◽  
Neuromyelitis Optica Spectrum Disorder ◽  
Normal Appearing White Matter
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