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An atypical case of acute posterior multifocal placoid pigment epitheliopathy with recurrent strokes.

ABSTRACT: Purpose:To report an atypical case of acute posterior multifocal placoid pigment epitheliopathy (APMPPE) with central nervous system (CNS) vasculitis and recurrent strokes. Observations:A 57 year-old female presented with APMPPE after a febrile illness and rash. She developed an acute infarct on magnetic resonance imaging. Computed tomography angiography of the cerebral vasculature was normal. Cerebrospinal fluid (CSF) analysis and an extensive serum lab workup were also unremarkable. She was treated with high-dose corticosteroids and eventually transitioned to methotrexate. A month after being on treatment she developed a second stroke. A cerebral angiogram was obtained and did not show evidence of CNS vasculitis. The methotrexate was eventually stopped and the prednisone was tapered. Approximately 3 months later she developed a third stroke and worsening APMPPE-associated maculopathy in both eyes. She was eventually started on oral cyclophosphamide. Conclusions & importance:Although rare, CNS vasculitis is a known complication of APMPPE. This case is atypical given the development of multiple recurrent strokes, lack of inflammatory evidence on CSF analysis, and normal imaging of the cerebral vasculature. This report highlights the need for a high level of clinical suspicion for CNS vasculitis with APMPPE despite noncontributory cerebral angiographic imaging and normal CSF analysis.

SUBMITTER: Berger E

PROVIDER: S-EPMC6872853 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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An atypical case of acute posterior multifocal placoid pigment epitheliopathy with recurrent strokes.

Berger Evan E Ghorayeb Ghassan G Hogg Jeffery J

American journal of ophthalmology case reports 20191109

<h4>Purpose</h4>To report an atypical case of acute posterior multifocal placoid pigment epitheliopathy (APMPPE) with central nervous system (CNS) vasculitis and recurrent strokes.<h4>Observations</h4>A 57 year-old female presented with APMPPE after a febrile illness and rash. She developed an acute infarct on magnetic resonance imaging. Computed tomography angiography of the cerebral vasculature was normal. Cerebrospinal fluid (CSF) analysis and an extensive serum lab workup were also unremarka ...[more]

PMID: 31768473

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Project description:The purpose of this study was to evaluate potential insights into the pathogenesis of acute posterior multifocal placoid pigment epitheliopathy (APMPPE) using multimodal diagnostic imaging and laboratory evaluation in long-term follow-up. A retrospective, single-center case series was conducted on seven consecutive patients (14 eyes) who were given a diagnosis of APMPPE from March 1, 2011, through June 30, 2019 with at least three months of follow-up. Clinical characteristics (age, symptoms, visual acuity [VA]), laboratory testing including coxsackievirus titers, and multimodal imaging from fundus photography, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), fluorescein angiography (FA), and indocyanine green angiography (ICG) were analyzed for each patient. The initial median VA was 20/71 and final median VA was 20/22. Coxsackievirus B (CVB) titers were elevated (≥ 1:80) in six of seven patients, with a four-fold increase in convalescent titers seen in two patients suggestive of recent infection. All patients were treated with oral corticosteroids, and five patients underwent corticosteroid-sparing immunomodulatory therapy. Initially, multifocal deep choroidal lesions were observed in the posterior pole corresponding to patches of hypocyanescence on ICG. Overlying retinal pigment epithelium (RPE) disease was observed on FAF, although this finding was not universally observed, suggesting that RPE disease may occur as a sequelae to unchecked choroidal inflammation. SD-OCT architectural changes confirmed outer retina and ellipsoid zone disruption. FA of active lesions showed early hypofluorescence and late hyperfluorescence with surrounding leakage while inactive disease showed areas of staining. Long-term follow-up of multimodal diagnostic imaging in APMPPE revealed that choroidal inflammation likely precedes RPE change and photoreceptor damage. Elevation of coxsackievirus titers with seroconversion may be associated with an infectious trigger in concert with immune-mediated disease in this posterior uveitis syndrome.

Project description:PurposeTo investigate the natural course of pachychoroid pigment epitheliopathy (PPE).DesignA retrospective cohort study.SubjectsFrom the Kyoto central serous chorioretinopathy (CSC) cohort consisting of 548 patients with CSC as of September 2020, we included consecutive unilateral patients with acute or chronic CSC between January 2013 and December 2016.MethodsAll patients underwent complete ophthalmic examination, including multimodal imaging such as fundus autofluorescence, spectral-domain optical coherence tomography, and fluorescein angiography/indocyanine green angiography and/or optimal coherence tomography angiography. The fellow eyes of eyes diagnosed with CSC were screened for PPE, and their natural course was evaluated. We also evaluated the association of ARMS2 rs10490924, CFH rs800292, TNFRSF10A rs13278062, and GATA5 rs6061548 genotypes with the natural course.Main outcome measuresIncidence of CSC, pachychoroid neovasculopathy, and pachychoroid geographic atrophy (GA).ResultsIn total, 165 patients with unilateral CSC (mean age, 55.7 ± 12.6 years; female, 22.4%) were included from the Kyoto CSC cohort. Among them, 148 (89.7%) were diagnosed as having PPE in their non-CSC eye. Survival analysis revealed that 16.8% of PPE eyes developed CSC during the 6-year follow up, whereas non-PPE eyes did not. Although genetic factors did not have significant association with CSC development (P > 0.05, log-rank test), choroidal vascular hyperpermeability (CVH) and subfoveal choroidal thickness (SFCT) were significantly associated with CSC incidence (P = 0.001, log-rank test). Survival analysis showed that eyes without CVH and eyes with SFCT < 300 μm did not develop CSC during the 6-year follow-up. Pachychoroid neovasculopathy developed in only 1 eye with PPE during a follow-up of 46.4 months. Pachychoroid GA did not develop in any of the studied eyes.ConclusionsThis study revealed a natural history of PPE in a relatively large Japanese cohort. Choroidal vascular hyperpermeability and SFCT were significant risk factors for the development of CSC in PPE eyes. Although the current results cannot be generalized for all eyes with PPE, these findings present an important clinical implication.

Project description:Background Atypical posterior canal (PC) positional nystagmus may be due to the changes in cupular response dynamics from cupulolithiasis (cu), canalithiasis of the short arm (ca-sa), or a partial/complete obstruction—jam. Factors that change the dynamics are the position of the head in the pitch plane, individual variability in the location of the PC attachment to the utricle and the position of the cupula within the ampulla, and the location of debris within the short arm and on the cupula. The clinical presentation of PC-BPPV-cu is DBN with torsion towards the contralateral side in the DH positions and SHHP or no nystagmus in the ipsilateral DH position and no nystagmus upon return to sitting from each position. The clinical presentation of PC-BPPV-ca-sa is no nystagmus in the DH position and upbeat nystagmus (UBN) with torsion lateralized to the involved side upon return to sitting from each position. Case description A 68-year-old woman, diagnosed with BPPV, presented with DBN associated with vertigo in both DH positions and without nystagmus or symptoms on sitting up. In the straight head hanging position (SHHP), the findings of a transient burst of UBN with left torsion associated with vertigo suggested ipsicanal conversion from the left PC-BPPV-cu to canalithiasis. Treatment included a modified canalith repositioning procedure (CRP), which resulted in complete resolution. BPPV recurred 17 days later. Clinical presentation of BPPV included no nystagmus/symptoms in both the contralateral DH position and SHHP, DBN in the ipsilateral DH position without symptoms, and UBN with left torsion associated with severe truncal retropulsion and nausea on sitting up from provoking position. The findings suggested the left PC-BPPV-cu-sa and PC-BPPV-ca-sa. Treatment included neck extension, a modified CRP, and demi-Semont before complete resolution. Conclusion An understanding of the biomechanics of the vestibular system is necessary to differentially diagnose atypical PC-BPPV. DH test (DHT) findings suggest that PC-BPPV-cu presents with DBN or no nystagmus in one or two DH positions and sometimes SHHP and without nystagmus or no reversal/reversal of nystagmus on sitting up. The findings suggest PC-BPPV-ca-sa has no nystagmus in DH positions or DBN in the ipsilateral DH position and UBN with torsion lateralized to the involved side on sitting up.

Project description:PurposeParaneoplastic retinopathy can be the first manifestation of systemic malignancy. A subset of paraneoplastic retinopathy is characterized by negative-type electroretinography (ERG) without fundus abnormality. Here we describe the multimodal imaging and clinico-pathological correlation of a unique case of acute progressive paravascular placoid neuroretinopathy with suspected retinal depolarizing bipolar cell dysfunction preceding the diagnosis of metastatic small cell carcinoma of the prostate.MethodsERG was performed according to the International Society for Clinical Electrophysiology of Vision standards. Imaging modalities included near-infrared reflectance, blue-light autofluorescence, fluorescein and indocyanine green angiographies, spectral domain optical coherence tomography, ultra-widefield colour and green-light autofluorescence imaging, microperimetry and adaptive optics imaging. Patient serum was screened for anti-retinal antibodies using western blotting. Immunostaining and histological analyses were performed on sections from human retinal tissues and a patient prostate biopsy.ResultsSerial multimodal retinal imaging, microperimetry and adaptive optics photography demonstrated a paravascular distribution of placoid lesions characterized by hyper-reflectivity within the outer nuclear layer resembling type 2 acute macular neuroretinopathy. There was no visible lesion within the inner nuclear layer despite electronegative-type ERG. Six months later, the patient presented with metastatic small cell carcinoma of the prostate. Tumour cells were immunopositive for glyceraldehyde-3-phosphate dehydrogenase, enolase and recoverin as well as neuroendocrine markers. The patient's serum reacted to cytoplasmic and nuclear antigens in the prostate biopsy and in human retina. Anti-retinal antibodies against several antigens were detected by both commercial and in-house western blots.ConclusionsA spectrum of autoreactive anti-retinal antibodies is associated with a unique phenotype of acute progressive paravascular placoid neuroretinopathy resulting in degeneration of photoreceptor cells, inner retinal dysfunction and classic electronegative ERG in paraneoplastic retinopathy. Detailed clinical, functional and immunological phenotyping of paraneoplastic retinopathy illustrated the complex mechanism of paraneoplastic syndrome.

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An atypical case of acute posterior multifocal placoid pigment epitheliopathy with recurrent strokes.

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An atypical case of acute posterior multifocal placoid pigment epitheliopathy with recurrent strokes.

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