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CASE REPORT
Year : 2017  |  Volume : 12  |  Issue : 4  |  Page : 374-377
 

Susac’s syndrome (retinocochleocerebral vasculopathy): Follow-up of a pediatric patient


1 Department of Pediatric Neurology, Ankara Children’s Hematology Oncology Research and Training Hospital, Ankara, Turkey
2 Department of Opthalmology, Ulucanlar Eyes Training and Research Hospital, Ankara, Turkey
3 Department of Pediatric Neurology, Ondokuz Mayis University School of Medicine, Samsun, Turkey

Date of Web Publication26-Mar-2018

Correspondence Address:
Mrs. Zeynep Selen Karalok
Department of Pediatric Neurology, Ankara Children’s Hematology Oncology, Training and Research Hospital, Diskapi, Ankara 06110, Turkey

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_128_17

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   Abstract 

Susac’s syndrome (SS) is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear. It is also a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings. A 15-year-old girl presented in June 2015 with vomiting and severe headache. Cerebral magnetic resonance imaging revealed multiple lesions in the corpus callosum. Cerebrospinal fluid findings gave normal results. The initial diagnosis was MS and steroid (1000mg/day) was given. She started to describe hallucinations and became paraplegic. She then underwent plasmapheresis five times without response. Her electroencephalogram was diffusely slow with 2–3 Hz delta rhythm at the frontal regions. Audiological examination showed that she had sensorineural hearing loss in her left ear. Ophthalmologic evaluation revealed BRAO in both eyes. On the basis of these findings, she was diagnosed with SS and treated with intravenous immunoglobulin (IVIG) and aspirin. After monthly treatment with IVIG for 6 months, the patient has almost fully recovered. SS should be kept in mind in the differential diagnosis of MS and ADEM.


Keywords: Branch retinal artery occlusion, encephalopathy, IVIG, sensorineural hearing loss, Susac’s syndrome


How to cite this article:
Karalok ZS, Taskin BD, Guven A, Ucgul CA, Aydin OF. Susac’s syndrome (retinocochleocerebral vasculopathy): Follow-up of a pediatric patient. J Pediatr Neurosci 2017;12:374-7

How to cite this URL:
Karalok ZS, Taskin BD, Guven A, Ucgul CA, Aydin OF. Susac’s syndrome (retinocochleocerebral vasculopathy): Follow-up of a pediatric patient. J Pediatr Neurosci [serial online] 2017 [cited 2020 Dec 3];12:374-7. Available from: https://www.pediatricneurosciences.com/text.asp?2017/12/4/374/227970



   Introduction Top


Susac’s syndrome (SS), first reported in 1979, is a triad of encephalopathy, branch retinal artery occlusion (BRAO), and sensorineural hearing loss as a result of microvascular occlusions of the brain, retina, and inner ear.[1] It is a disorder of autoimmune endotheliopathy. SS usually affects young women between the age of 20 and 40 years. It is probably underdiagnosed because of the rarity of the disease and its irregular findings. Childhood SS can be misdiagnosed as multiple sclerosis (MS) or acute disseminated encephalomyelitis (ADEM) because of similar findings.[2]


   Case Report Top


A 15-year-old girl presented in June 2015 with vomiting and severe headache. Cerebral magnetic resonance imaging (MRI) revealed multiple lesions on the corpus callosum [Figure 1]A, B. Cerebrospinal fluid (CSF) protein level was normal. Also oligoclonal band and aquaporin 4 (AQP4) were negatif in CSF. The initial diagnosis was MS and steroids (1000mg/day) was given for 5 days. The patient started to describe hallucinations and her symptoms did not improve; she became paraplegic due to increased deep tendon reflexes, Babinsky sign was present, and there was loss of bladder function. She then underwent plasmapheresis five times without response. Her spinal MRI and electromyography revealed normal results. Her electroencephalogram (EEG) was diffusely slow with 2–3 Hz delta rhythm especially in the frontal regions [Figure 2]A. Audiological examination showed that she had sensorineural hearing loss in her left ear at low-to-moderate frequencies. The first ophthalmologic examination showed normal results except for cotton wool spots around the optic nerve of her right eye; further evaluation was done and fundus fluorescein angiography (FFA) revealed BRAOs in both eyes. FFA showed BRAOs, nonperfusional (ischemic) areas, cotton wool spots, Gass plaques, retinal hemorrhage, and escape of fluorescein leakage as hyperfluorescence, which indicates active disease [Figure 3]A, B, D, E. On the basis of these findings, she was diagnosed as SS and treated with intravenous immunoglobulin (IVIG) and aspirin. She underwent physiotherapy for the paraplegia. After 3 months, her EEG findings improved and the baseline theta rhythm become alpha and normalized [Figure 2]B; her FFA findings improved. Cotton wool spots and ischemic areas in her left eye improved and the nonperfusional peripheral retinal artery in her right eye become perfusional. The active period of the disease shown by hyperfluorescence (fluorescein leakage) had recovered [Figure 3]C, F. IVIG treatment was given monthly for 6 months. Steroid dosage was slowly tapered and stopped on the third month of treatment. After 11 months control, the retinal nerve fiber layer (RNFL) thickness of her right eye revealed noticeable thinning but the left was normal. Additionally, the macular thicknesses of her both eyes were normal. The peripheral concentric contraction in her right visual field was compatible with the defect in RNFL. Audiological examination at 11 months was normal, and MRI showed findings consistent with a subacute phase (callosal holes; [Figure 1]E). The patient is taking aspirin only, and her muscle examination of the right lower extremity is 4/5; this is related to involvement of the left internal capsule seen on admission [Figure 1]C, D. She rarely has headaches and her school performance is normal.
Figure 1: (A, B) Sagittal fluid-attenuated inversion recovery and T2 shows multiple small hyperintense foci (snowball images), spokes, and icicles. (C, D) Axial T2 and diffusion-weighted images showing the lesion at the left internal capsule. (E) Follow-up at 11 months after treatment for 6 months: subacute phase images. Sagittal T1 images showing callosal holes

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Figure 2: (A) First month: EEG was diffusely slow with 2–3 Hz delta rhythm especially in the frontal regions. (B) Follow-up at 3 months; EEG baseline rhythm is alpha

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Figure 3: (A) Left eye color fundus photography; (B) before treatment, black arrow shows active serous fluid escaping from peripheral retinal artery and white arrow shows BRAOs. (C) After treatment, white arrow shows BRAOs have resolved and black arrow shows (hyperfluorescence) active illness has improved. (D) Right eye color fundus photography; arrows show cotton wool spots. (E) White arrow shows BRAOs and black arrow shows ischemic areas. (F) After treatment, ischemic areas are resolved, and black arrow indicates Gass plaque with hyperfluorescence

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   Discussion Top


SS affects women aged 20–40 years and has been reported in patients aged 7–70 years.[3] The triad of criteria for SS develops over time, starting with headache in most cases. Psychiatric problems and the other symptoms of the triad take months to develop. Urinary incontinence and seizures have also been reported.[4] Characteristic MRI findings include white matter disturbances, lesions of the corpus callosum (snowball, icicle, spoke), and intracranial leptomeningeal enhancement.[5]

Ocular involvement via BRAOs is always present, and BRAO can lead to bilateral vision loss or remain asymptomatic; this depends on the location of retinal involvement. Peripheral involvement may not cause symptoms so the first ophthalmologic examination can be normal.[4],[6] If SS is suspected, FFA should be done. BRAOs may be the first symptom and recurrent BRAOs may be seen on follow-up (which means occlusion of some branches of the retinal artery due to endothelial injury) for a diagnosis of SS. Ophthalmologic examination shows an area of retinal infarction. Other findings include Gass plaques, cotton wool spots, retinal artery occlusions, areas of arterio-arterial, retinal collaterals and intra-retinal blot hemorrhages, and venous–venous collaterals.[3] Dilated fundus examination will reveal BRAOs, which are best evaluated with FFA; this may show typical multifocal fluorescein leakage and arteriolar wall hyper fluorescence (Gass plaques), which are yellow-white deposits often proximal to sites of occlusion that suggest endothelial dysfunction rather than an embolic disorder.[7],[8] After 6 months of IVIG treatment, ophthalmological findings improved except the distinct thinning in her right RNFL and peripheral concentric contraction in her right visual field were still present. Sensory neuronal hearing loss occurs as a complication of cochlear apex arteriolar microinfarctions at the low and medium frequency range and this may be permanent; if severe, cochlear implantation is necessary.[6] Our patient’s triad of symptoms improved after IVIG treatment. At the end of treatment, she was nearly fully recovered.


   Conclusions Top


SS is an important differential diagnosis in numerous disorders such as MS and ADEM. FFA must be done if there is suspicion of SS despite a normal ophthalmologic examination. SS should be suspected in cases of isolated encephalopathy, hearing loss, and visual field defects, because early treatment seems to improve outcomes.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Susac JO, Hardman JM, Selhorst JB. Microangiopathy of the brain and retina. Neurology 1979;29:313-6.  Back to cited text no. 1
[PUBMED]    
2.
García-Carrasco M, Claudia Mendoza-Pinto C, Cervera R. Diagnosis and classification of Susac syndrome. Autoimmune Rev 2014;13:345-50.  Back to cited text no. 2
    
3.
García-Carrasco M, Jiménez-Hernández C, Jiménez-Hernández M, Voorduin-Ramos S, Mendoza-Pinto C, Ramos-Alvarez G, et al. Susac’s syndrome: an update. Autoimmun Rev 2011;10:548-52  Back to cited text no. 3
    
4.
van Winden M, Salu P. Branch retinal artery occlusion with visual field and multifocal erg in Susac syndrome: a case report. Doc Ophthalmol 2010;121:223-9.  Back to cited text no. 4
[PUBMED]    
5.
Magro CM, Poe JC, Lubow M, Susac JO. Susac syndrome: An organ-specific autoimmune endotheliopathy syndrome associated with anti-endothelial cell antibodies. Am J Clin Pathol 2011;136:903-12.  Back to cited text no. 5
[PUBMED]    
6.
Bitra RK, Eggenberger E. Review of Susac syndrome. Curr Opin Ophthalmol 2011;22:472-6.  Back to cited text no. 6
[PUBMED]    
7.
Flammer J, Konieczka K, Flammer AJ. The primary vascular dysregulation syndrome: Implications for eye diseases. EPMA J 2013;4:14  Back to cited text no. 7
    
8.
Seamone ME, Fielden M. A case of isolated Susac occlusive retinal vasculitis. J Neuroophthalmol 2013;33:260-2.  Back to cited text no. 8
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    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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