Generalized anosognosia, anosodiaphoria, and visual hallucinations with bilateral enucleation after severe bifrontal brain injury: a case report describing similarities with and differences from Anton syndrome.

Visual anosognosia, associated with confabulations and cortical blindness in the context of occipital lobe injury, is known as Anton syndrome. Patients with this syndrome strongly deny their vision loss and confabulate to compensate for both visual loss and memory impairments. In this article, we present a case of a patient with some similarities to Anton syndrome, however, with several differences in clinical presentation. Bifrontal brain injury, bilateral enucleation, affective indifference (anosodiaphoria), generalized anosognosia, and the conviction that vision will resume mark clear clinical differences with Anton syndrome. Differentiating these findings from Anton syndrome will help occupational therapists, neuropsychologists, speech-language pathologists, physical therapists, and physicians when assessing frontal lobe brain injury with total and partial visual loss. This case demonstrates that visual anosognosia and confabulations can occur without occipital lobe dysfunction or cortical blindness.

Distribution and causes of blindness and severe visual impairment in children at a tertiary referral centre in Rwanda.

AIM: To determine the prevalence and the causes of severe visual impairment and blindness (SVI/BL) in children at a tertiary referral centre in Rwanda. METHODS: In this retrospective study, files of all patients <18 years presenting during the year 2019 at the Kabgayi Eye Unit in Rwanda with SVI/BL (presenting visual acuity of <6/60 Snellen or lack of preferential looking behaviour) in at least one eye were analysed for age, sex, laterality, province of origin and cause of SVI/BL. Causes were categorised according to WHO standard classification. RESULTS: Out of 3939 children presenting to the clinic, 428 (10.9%) had SVI/BL in at least one eye. 165 (4.2%) patients had bilateral and 263 (6.7%) had unilateral condition. Of patients with BL/SVI, 36.7% were below the age of 6 years. In bilateral BL/SVI, the main causes were cataract (18%), refractive error (18%), keratoconus (13%), congenital eye anomaly (9%), glaucoma (8%), cortical blindness (8%) and retinoblastoma (6%). In unilateral BL/SVI it was trauma (46%), cataract (8%), keratoconus (8%), infectious corneal disease (7%) and retinoblastoma (7%). In preschool children, retinopathy of prematurity accounted for 7% of bilateral BL/SVI. Avoidable BL/SVI accounted for 87% of all cases. CONCLUSION: The high number of avoidable causes for SVI/BL may be reduced through several cost-effective ways.

Current knowledge and perspectives of contrast-induced neurotoxicity: A survey of Australian clinicians.

BACKGROUND: Contrast-induced Neurotoxicity (CIN) is an increasingly recognised complication following endovascular procedures. It remains a relatively unexplored clinical entity, and we sought to characterise clinician perspectives towards CIN, as well as identify gaps in knowledge and provide directions for future research. METHODS: An online survey was distributed to members of the Australian and New Zealand Society of Neuroradiology, as well as several Australian tertiary hospitals. Questions related to clinical exposure to CIN, diagnosis, management and pathophysiology were explored. Descriptive analysis was conducted on survey responses, and statistical analysis was performed using Chi-square and Fisher's exact test as appropriate. RESULTS: A total of 95 survey responses were recorded (26.8% response rate). Only 28.4% of respondents were comfortable in diagnosing CIN, and even fewer (24.2%) were comfortable in independently managing CIN patients. Based on clinician opinion, symptoms including impaired consciousness and cortical blindness were thought to be most associated with CIN, whilst the radiological findings of parenchymal oedema and cortical enhancement were considered to be most indicative of CIN. Most clinicians agreed that further investigation is required related to pathophysiology (86.3%), diagnosis (83.2%), and treatment (82.1%). CONCLUSION: CIN is a poorly understood complication following endovascular procedures. Significant gaps in clinical understanding are evident, and further investigation is vital to improve diagnosis and management.

Síndrome de Anton-Babinsky / Anton-Babinski Syndrome

Introducción: El síndrome de Anton-Babinsky es un trastorno neuropsiquiátrico poco frecuente, que se manifiesta por anosognosia y ceguera cortical, debido a lesiones en las áreas visuales asociativas de la corteza occipital sin presentar afectación en la vía visual. En adultos mayores sus manifestaciones clínicas suelen ser atípicas y la valoración geriátrica integral permite orientar el diagnóstico, que se puede asociar con síndromes geriátricos. Objetivo: Describir las manifestaciones clínicas, síndromes geriátricos, paraclínicos y tratamiento de un paciente con Síndrome de Anton-Babinsky. Caso clínico: Paciente de 85 años, quien durante un postoperatorio inmediato de cirugía ocular (pterigión) presentó alteración fluctuante del estado de conciencia, alucinaciones visuales, disminución de la agudeza visual bilateral y anosognosia. La analítica sanguínea no reportó alteraciones y la tomografía computarizada de cráneo documentó isquemia occipital bilateral, se le diagnosticó síndrome de Anton-Babinsky. Conclusiones: El síndrome de Anton-Babinsky puede tener presentación atípica a través de síndromes geriátricos. La valoración geriátrica integral permite realizar un diagnóstico y manejo multicomponente oportuno con el objetivo de influir en el pronóstico tanto a corto como a largo plazo(AU)

Introduction: Anton-Babinski syndrome is a rare neuropsychiatric disorder, with a manifestation of anosognosia and cortical blindness, due to lesions in the associative visual areas of the occipital cortex without presenting visual pathway impairment. In elderly adults, its clinical manifestations are usually atypical and a comprehensive geriatric assessment allows to guide the diagnosis, which can be associated with geriatric syndromes. Objective: To describe the clinical manifestations, geriatric syndromes, paraclinical findings and treatment of a patient with Anton-Babinski syndrome. Clinical case: This is the case of an 85-year-old patient who, during the immediate postoperative period after ocular surgery (pterygium), presented a fluctuating alteration of consciousness, visual hallucinations, decreased bilateral visual acuity and anosognosia. Blood analysis reported no alterations and cranial computed tomography documented bilateral occipital ischemia; the patient was diagnosed with Anton-Babinski syndrome. Conclusions: Anton-Babinski syndrome may have an atypical presentation through geriatric syndromes. Comprehensive geriatric assessment allows for timely multicomponent diagnosis and management with the aim of influencing both short- and long-term prognosis(AU)

Pheochromocytoma manifesting as cortical blindness secondary to PRES with associated TMA: a case report and literature review.

BACKGROUND: Pheochromocytomas are neoplasms originating from neuroectodermal chromaffin cells leading to excess catecholamine production. They are notorious for causing a triad of headaches, palpitations, and sweats. Though the Menard triad is one to be vigilant of, symptomatic presentation can vary immensely, hence the tumor earning the label "the great masquerader." CASE PRESENTATION: We report a case of pheochromocytoma initially presenting with cortical blindness secondary to posterior reversible encephalopathy syndrome and thrombotic microangiopathy from malignant hypertension. Our patient was seen in our facility less than a week prior to this manifestation and discharged after an unremarkable coronary ischemia work-up. In the outpatient setting, she had been prescribed multiple anti-hypertensives with remarkably elevated blood pressure throughout her hospitalization history. CONCLUSION: Pheochromocytoma presenting with malignant hypertension and hypertensive encephalopathy should be expected if left untreated; nonetheless, the precipitation of cortical blindness is rare in the literature. This case contributes an additional vignette to the growing literature revolving adrenal tumors and their symptomatic presentation along with complex management. It also serves to promote increased diagnostic suspicion among clinicians upon evaluating patients with refractory hypertension.

A woman in her seventies with acute onset of blindness. / En kvinne i 70-årene med akutt blindhet.

BACKGROUND: Dural arteriovenous fistulae are among the most common causes of pulsatile tinnitus. Selective angiography can be necessary for a definitive diagnosis, but in rare cases has been reported to cause sudden cortical blindness. CASE PRESENTATION: We present a woman in her seventies for whom cerebral angiography revealed a dural arteriovenous fistula. Two hours after the angiography she experienced sudden bilateral blindness. A local cause of sudden visual loss was excluded by clinical examination, cerebral bleeding was excluded by CT scan, vascular spasms and occlusions were excluded by CT angiography and acute infarction over the bilateral parieto-occipital cortex was excluded by MRI. The CT scan did, however, show contrast enhancement in the visual cortex from the contrast given during the previously performed cerebral angiography. The patient's vision spontaneously recovered within six days after the angiography, with no residual neurological deficits in her subsequent clinical follow up. Surgery was later performed on her dural arteriovenous fistula, which successfully treated the pulsatile tinnitus. INTERPRETATION: Transient cortical blindness is a rare but dramatic complication after cerebral angiography, thought to be caused by the transient neurotoxic effects of iodine-containing contrast agents. When other causes of sudden blindness are excluded, the patient can be reassured about the excellent prognosis for this condition.

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.

BACKGROUND: Homozygous loss of DIAPH1 results in seizures, cortical blindness, and microcephaly syndrome (SCBMS). We studied 5 Finnish and 2 Omani patients with loss of DIAPH1 presenting with SCBMS, mitochondrial dysfunction, and immunodeficiency. OBJECTIVE: We sought to further characterize phenotypes and disease mechanisms associated with loss of DIAPH1. METHODS: Exome sequencing, genotyping and haplotype analysis, B- and T-cell phenotyping, in vitro lymphocyte stimulation assays, analyses of mitochondrial function, immunofluorescence staining for cytoskeletal proteins and mitochondria, and CRISPR-Cas9 DIAPH1 knockout in heathy donor PBMCs were used. RESULTS: Genetic analyses found all Finnish patients homozygous for a rare DIAPH1 splice-variant (NM_005219:c.684+1G>A) enriched in the Finnish population, and Omani patients homozygous for a previously described pathogenic DIAPH1 frameshift-variant (NM_005219:c.2769delT;p.F923fs). In addition to microcephaly, epilepsy, and cortical blindness characteristic to SCBMS, the patients presented with infection susceptibility due to defective lymphocyte maturation and 3 patients developed B-cell lymphoma. Patients' immunophenotype was characterized by poor lymphocyte activation and proliferation, defective B-cell maturation, and lack of naive T cells. CRISPR-Cas9 knockout of DIAPH1 in PBMCs from healthy donors replicated the T-cell activation defect. Patient-derived peripheral blood T cells exhibited impaired adhesion and inefficient microtubule-organizing center repositioning to the immunologic synapse. The clinical symptoms and laboratory tests also suggested mitochondrial dysfunction. Experiments with immortalized, patient-derived fibroblasts indicated that DIAPH1 affects the amount of complex IV of the mitochondrial respiratory chain. CONCLUSIONS: Our data demonstrate that individuals with SCBMS can have combined immune deficiency and implicate defective cytoskeletal organization and mitochondrial dysfunction in SCBMS pathogenesis.

Anton's syndrome as a presentation of Trousseau syndrome involving the bilateral optic radiation.

Anton's syndrome is a rare neuropsychiatric syndrome that is characterized by cortical blindness and anosognosia with visual confabulation, but without global cognitive impairment. We herein report a rare case of Anton's syndrome as a presentation of Trousseau syndrome involving the bilateral optic radiation. The patient had been diagnosed with gallbladder cancer 2 months previously, and he was admitted to the hospital with confusion and quadriplegia. He was found to be blind, but denied any visual impairment and demonstrated visual confabulation despite evidence of his blindness. These signs were consistent with a diagnosis of Anton's syndrome. Brain computed tomography (CT) and magnetic resonance imaging revealed infarcts in the bilateral temporo-parieto-occipital junction with hemorrhagic transformation, mainly involving the bilateral optic radiation. The presence of gallbladder cancer with peripheral metastasis on abdominal CT, as well as markedly increased tumor markers and D-dimer levels, supported the presence of cancer-related hypercoagulability and the diagnosis of Trousseau syndrome.

Surgical Treatment of a Child With Acute Cortical Blindness Caused by Depressed Skull Fracture.

Linear skull fractures are relatively common in children, however, it is rarer to see depressed fractures. This report details the case of a 7-year-old boy who was admitted to the emergency department with complete blindness after having experienced an in-car traffic accident. Brain tomography of the patient showed that a large, island-shaped piece of occipital bone was depressed on the visual cortex and superior sagittal sinus in the midline. Presentation of complete loss of vision after an isolated head trauma is very rare, and there are no similar cases in existing literature. The limits of surgical indications for depressed skull fractures are well established in neurosurgical practice. Surgical intervention should be performed immediately, especially in cases where neurological changes develop in the earliest stages after a trauma. The patient underwent emergency surgery to correct the blindness without affecting the vascular neighborhood. The depressed cranium was raised to its original position. The blindness had completely resolved shortly after the patient woke up during the postoperative period.

Prenatal or Perinatal Injury? Diagnosing the Cortically Blind Infant.

PURPOSE: To document the association of prenatal brain disruption with secondary perinatal distress in children diagnosed as having cortical visual impairment (CVI). DESIGN: Retrospective case series. METHODS: Eight children with severe CVI and clinical history of perinatal events were included. Case histories and neuroimaging studies were reviewed. The main outcome measures were perinatal history, visual and neurologic findings, and magnetic resonance (MR) imaging. RESULTS: In our patient cohort, MR imaging showed signs of cortical dysgenesis leading to congenital brain malformations such as polymicrogyria consistent with a prenatal timing of CNS injury. Although subcortical white matter changes were common, signs of watershed injury to the visual cortex were absent, suggesting that the visual loss was attributable to a prenatal etiology with secondary birth complications. CONCLUSION: Some children with CVI and a history of perinatal distress have prenatal dysgenesis of the developing brain. Therefore, a clinical history of perinatal hypoxia-ischemia is nonspecific and merits neuroimaging to identify antecedent brain malformations and timing of injury, which can influence patient diagnosis and management.

Visual loss as first clinical manifestation of X-linked adrenoleukodystrophy / Perda visual como primeira manifestação clínica de adrenoleucodistrofia ligada ao X

Abstract X-linked adrenoleukodystrophy (X-ALD) represents a group of diseases characterized by the accumulation of very long chain fattyacids (VLCFAs) in the tissues. Its clinical manifestations are usually manifold. Visual changes may be present, but they often appear later in the disease. We describe here the case of a 9-year-old boy with X-ALD, whose first symptom was visual loss, which began at 8 years of age. His ophthalmologic evaluation revealed no alterations. Shortly thereafter, he suffered a head injury. The magnetic resonance imaging of brain revealed findings that led to the suspicion of X-ALD. The plasma VLCFA dosage confirmed this diagnosis. This report aims toshow that in cases of visual loss with a normal ophthalmic examination, a high index of suspicion should be given for conditions suchas X-ALD, since it affects the cortical routes related to vision. Fundoscopy findings appear late in X-ALD.

Resumo A adrenoleucodistrofia ligada ao X (X-ALD) representa um grupo de doenças caracterizadas pelo acúmulo de ácidos graxos de cadeia muito longa (VLCFAs) nos tecidos. Suas manifestações clínicas costumam ser múltiplas. Alterações visuais podem estar presentes, contudo costumam surgir mais tardiamente na doença. Descrevemos aqui o caso de um menino de 9 anos com X-ALD, cujo primeiro sintoma foi perda visual, iniciada aos 8 anos de idade. A sua avaliação oftalmológica não revelou alterações. Pouco tempo depois, ele sofreu um traumatismo craniano. A imagem de ressonância magnética de encéfalo revelou achados que levaram a suspeita de X-ALD. A dosagem dos VLCFAs no plasma confirmou este diagnóstico. Este relato tem como objetivo mostrar que em casos de perda visual com um exame oftalmológico normal, deve-se ter um alto índice de suspeita para condições como a X-ALD, pois a mesma afeta as vias corticais relacionadas à visão. Nessa doença, os achados da fundoscopia aparecem mais tardiamente.

Cortical blindness due to cerebral infarct in advanced pancreatic cancer.

A 65-year-old man, a known case of advanced pancreatic cancer on cisplatin and gemcitabine-based chemotherapy, presented with sudden bilateral painless loss of vision with altered sensorium. Clinical examination showed a normal pupillary light reaction, normal anterior segment and normal fundus. MRI brain showed bilateral parieto-occipital infarct. This report highlights the incidence of cortical blindness due to thromboembolism at the cerebral level in pancreatic cancer. Cerebral ischaemic events occur at an advanced stage of pancreatic cancer already diagnosed at stroke onset and portend a poor prognosis. Anticoagulation therapy, especially low molecular weight heparin, remains the best strategy to prevent recurrences.

Ceguera cortical como manifestación inicial de endocarditis trombótica no bacteriana / Cortical blindness as initial manifestation of nonbacterial thrombotic endocarditis

La endocarditis trombótica no bacteriana, antiguamente conocida como endocarditis marántica, es una entidad infrecuente en la que se desarrollan vegetaciones estériles, compuestas por fibrina en las válvulas del corazón. Suele diagnosticarse en el momento de la autopsia o en enfermedades oncológicas avanzadas. Las neoplasias malignas más frecuentemente asociadas con esta entidad son las de pulmón, páncreas, estómago y adenocarcinomas de origen primario desconocido. Es necesario descartar la endocarditis infecciosa y establecer la presencia de vegetaciones valvulares mediante ecocardiografía. Presentamos el caso de una paciente con diagnóstico reciente de adenocarcinoma de estómago en estadio avanzado que presentó ceguera cortical e imágenes compatibles con isquemia cerebral. El ecocardiograma transesofágico mostró dos vegetaciones en válvula mitral. Los hemocultivos fueron negativos. Se enfatiza la importancia de sospechar endocarditis trombótica no bacteriana en enfermos con cáncer y embolismo sistémico.

Nonbacterial thrombotic endocarditis, formerly known as marantic endocarditis, it is an infrequent entity in which sterile, fibrin vegetations develop on heart valve leaflets. It is often diagnosed at the time of autopsy or in late-stage malignancies. The most common malignancies associated with nonbacterial thrombotic endocarditis are lung, pancreatic, gastric cancer and adenocarcinomas of an unknown primary site. Diagnosis requires ruling out infective endocarditis and establishing the presence of valvular vegetations using echocardiography. We report the case of a patient with a recent diagnosis of advanced gastric adenocarcinoma who presented with cortical blindness. The computed tomography was compatible with cerebral ischemia. The transoesophageal echocardiogram showed two vegetations in mitral valve. Blood cultures were negative. We emphasize the importance of suspecting nonbacterial thrombotic endocarditis in patients with cancer and systemic embolism.

[Cortical blindness as initial manifestation of nonbacterial thrombotic endocarditis]. / Ceguera cortical como manifestación inicial de endocarditis trombótica no bacteriana.

Nonbacterial thrombotic endocarditis, formerly known as marantic endocarditis, it is an infrequent entity in which sterile, fibrin vegetations develop on heart valve leaflets. It is often diagnosed at the time of autopsy or in latestage malignancies. The most common malignancies associated with nonbacterial thrombotic endocarditis are lung, pancreatic, gastric cancer and adenocarcinomas of an unknown primary site. Diagnosis requires ruling out infective endocarditis and establishing the presence of valvular vegetations using echocardiography. We report the case of a patient with a recent diagnosis of advanced gastric adenocarcinoma who presented with cortical blindness. The computed tomography was compatible with cerebral ischemia. The transoesophageal echocardiogram showed two vegetations in mitral valve. Blood cultures were negative. We emphasize the importance of suspecting nonbacterial thrombotic endocarditis in patients with cancer and systemic embolism.

Seneca and the First Description of Anton Syndrome.

Seneca was a Roman philosopher, politician, and mentor to the young Nero. He later fell in disgrace and was sentenced to death by the Emperor. Seneca left many texts, one of the most influential being his Moral Letters to Lucilius (63 CE). In Letter 50, he describes the case of Harpaste, his wife's foolish slave who acutely became blind. She denied her illness and argued irrationally about room darkness, constantly asking attendants to change her quarters. Harpaste's case, consisting of acutely acquired blindness and anosognosia in the presence of relatively well-preserved cognition, fulfills the clinical criteria for the diagnosis of Anton syndrome, and probably constitutes its first description.

Bilateral visual loss and cerebral infarction after spleen embolization in a trauma patient with idiopathic thrombocytopenic purpura: A case report.

RATIONALE: Splenic artery embolization (SAE) is a common procedure in trauma patients with blunt splenic injuries. We report a case of acute ischemic stroke following orthopedic surgery in a patient with post-SAE reactive thrombocytosis. PATIENT CONCERNS: A 37-year-old woman with idiopathic thrombocytopenic purpura (ITP) suffered from multiple trauma scheduled for open reduction and internal fixation for right tibial and left radius fracture five days after SAE. The patient did not have any thromboembolic complications, although the platelet counts increased from 43 × 10/L to 568 × 10/L within two days after SAE. Surgery was completed under general anesthesia with tracheal intubation without complications. The patient complained of visual loss followed by limb weakness on the fourth and eighth hour postoperatively. DIAGNOSES: Magnetic resonance imaging (MRI) of head demonstrated ischemic change over bilateral basal ganglia, and occipital areas, suggesting the diagnosis of cortical blindness. INTERVENTIONS: To suppress platelet count and avoid platelet hyper-aggregation, anti-platelet drug (i.e., oral aspirin 100 mg daily), hydration, and hydroxyurea (i.e., 20 mg/kg daily) were used for the treatment of reactive thrombocytosis. OUTCOMES: Although right-sided hemiparesis persisted, the patient reported mild visual recovery. She was discharged four months after SAE with active rehabilitation. LESSONS: Our report highlights an increased risk of acute arterial thromboembolic events in patients with reactive thrombocytosis, especially those undergoing surgery.

Cortical blindness as a rare presentation of hemorrhagic cerebral hyperperfusion syndrome following vertebral angioplasty.

Cerebral hyperperfusion syndrome (CHS) is a well-documented complication after carotid endarterectomy or stenting. In contrast, CHS following vertebral revascularization is extremely rare. Here we present a case of a 77-year-old man with high-grade vertebral stenosis who subsequently underwent balloon angioplasty, complicated by hemorrhagic CHS manifesting as cortical blindness, although strict postoperative blood pressure control was administered. To our knowledge, cortical blindness as a presentation of hemorrhagic CHS has not previously been reported. This study highlights the fact that identifying high-risk patients, as well as making an individual therapeutic plan, is important prior to revascularization. Further studies are needed to elucidate the exact mechanism of this condition and thereby prevent it.

A pilot study regarding basic knowledge of "cortical visual impairment in children" among ophthalmologists.

PURPOSE: A pilot study was done to evaluate knowledge regarding "cortical visual impairment (CVI) in children" among ophthalmologists. METHODS: This study was conducted during the annual conference of a zonal ophthalmological society. All ophthalmologists who attended the conference were requested to participate in this study. Those who agreed were given a validated questionnaire to assess knowledge regarding CVI. Cronbach's alpha of the questionnaire was 0.6. Participants were asked to respond to multiple choice questions by choosing the single best option. The responses obtained were then evaluated. RESULTS: The total number of registered delegates in the conference was 448. A total of 103 ophthalmologists showed interest to participate in the study with a response rate of 22.9%. Only 89/103 interested delegates were included in the study as remaining were unaware of CVI. No participant gave correct answers to all questions. Although more than 80% of them knew the most common association (87%) and site of pathology (84%), only 52% were sure about clinical features and even lesser respondents (39%) knew that magnetic resonance imaging is the correct investigation of choice. The majority responded correctly that these children need eye examination (89%) and can be managed by rehabilitation through multidisciplinary approach (82%), but only 58% could recognize differential diagnoses and had a correct idea regarding the prognosis of CVI. There was no correlation between the number of patients diagnosed per month by the respondent with knowledge of the disease. CONCLUSION: In this pilot study, ophthalmologists were found to have limited knowledge regarding clinical features, investigation, differential diagnosis, and visual prognosis of CVI in children. There is a need to improve awareness regarding CVI among ophthalmologists.