Clinical and Genetic Characteristics of the Heidenhain Variant of Creutzfeldt-Jakob Disease.

BACKGROUND: The Heidenhain variant of Creutzfeldt-Jakob disease (HvCJD), as a rare phenotype of CJD, has been under-recognized. We aim to elucidate the clinical and genetic features of HvCJD and investigate the differences of clinical features between genetic and sporadic HvCJD to improve our understanding of this rare subtype. METHOD: HvCJD patients admitted to the Xuanwu Hospital from February 2012 to September 2022 were identified, and published reports on genetic HvCJD cases were also reviewed. The clinical and genetic features of HvCJD were summarized, and the clinical features between genetic and sporadic HvCJD were compared. RESULTS: A total of 18 (7.9%) HvCJD patients were identified from 229 CJD cases. Blurred vision was the most common visual disturbance at the disease's onset, and the median duration of isolated visual symptoms was 30.0 (14.8-40.0) days. DWI hyperintensities could appear in the early stage, which might help with early diagnosis. Combined with previous studies, nine genetic HvCJD cases were identified. The most common mutation was V210I (4/9), and all patients (9/9) had methionine homozygosity (MM) at codon 129. Only 25% of cases had a family history of the disease. Compared to sporadic HvCJD, genetic HvCJD cases were more likely to present with non-blurred vision visual symptoms at onset and develop cortical blindness during the progression of the disease. CONCLUSIONS: HvCJD not only could be sporadic, but also, it could be caused by different PRNP mutations. Sporadic HvCJD was more likely to present with blurred vision visual symptoms at onset, and genetic HvCJD was more likely to develop cortical blindness with the disease's progression.

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.

Hepatic cortical blindness.

Hepatic cortical blindness is an unusual clinical complication of hepatic encephalopathy, and its epidemiology has not been studied in detail. Herein, we present a case report of a 37-year-old male with liver cirrhosis and immunoglobulin A nephropathy who noted visual impairment after eating high-protein food. In addition to the case report, all previously documented cases of hepatic cortical blindness occurring across the globe published from inception until August 2019 were reviewed. The incidence of hepatic cortical blindness is low, and diagnoses are easily missed. The diagnosis of hepatic cortical blindness is dependent on symptoms, and patients may experience several attacks of vision loss. Most patients experience complete blindness, but vision loss recovers within 10 min to one month. Early detection and therapy for hepatic encephalopathy may improve patient outcome.

Safety of Intravenous Thrombolysis and Mechanical Thrombectomy in Bilateral Posterior Cerebral Artery Territory Infarction.

BACKGROUND: Acute bilateral blindness is an uncommon phenomenon that requires immediate diagnosis and action. The emergent evaluation should concentrate on an early distinction between ocular, cortical, and psychogenic etiologies. OBJECTIVE: To present a case of cortical blindness without anosognosia due to the embolic occlusion of both posterior cerebral arteries (PCAs) and treated by intravenous and mechanical thrombolysis. CASE REPORT: A 67-year-old woman was admitted to the Stroke Unit due to cortical blindness without anosognosia. At the admission to the hospital, an emergent computed tomography scan of the brain ruled out intracranial acute hemorrhage and showed subtle changes consistent with hyperacute ischemia of the left occipital cortex, while a CT angiography demonstrated the occlusion of the P3 segment of both right and left posterior cerebral arteries. The patient was treated with combined thrombolysis (intravenous and mechanical thrombolysis), obtaining complete revascularization and a significant clinical improvement. CONCLUSION: Even if there is no randomized controlled trial to compare the effectiveness and safety of mechanical thrombectomy (MT) to intravenous thrombolysis in patients with posterior circulation occlusion, the good outcome of this case encourages combined stroke treatments in posterior circulation stroke, even in case of mild but disabling neurological deficits.

Clinicopathological findings of an MM2-cortical-type sporadic Creutzfeldt-Jakob disease patient with cortical blindness during a course of glaucoma and age-related macular degeneration.

Here, we report an autopsy-verified patient with MM2-coritical-type sporadic Creutzfeldt-Jakob disease (MM2C-type sCJD) presenting cortical blindness during a course of glaucoma and age-related macular degeneration, and focus on the difficulties involved in early clinical diagnosis. An 83-year-old man was admitted to our hospital 15 months after the onset of cortical blindness, and 9 months after the onset of progressive dementia. Neurological examination revealed dementia, frontal signs, visual disturbance, dysphagia, myoclonus and exaggerated tendon reflexes in the four extremities. Diffusion-weighted MRI (DW-MRI) showed cortical hyperintensities predominantly in the bilateral occipital lobes. PRNP gene analysis showed no mutations with methionine homozygosity at codon 129. Cerebrospinal fluid (CSF) examination revealed elevation of 14-3-3 and total tau protein. The symptoms progressed gradually, and the patient died of aspiration pneumonia, 30 months after the onset. Neuropathological examination revealed extensive large confluent vacuole-type spongiform changes in the cerebral cortices. Prion protein (PrP) immunostaining showed perivascular and plaque-type PrP deposits. We diagnosed our patient as MM2C-type sCJD. There are two difficulties in the early clinical diagnosis of MM2C-type sCJD with ocular disease in the elderly; delayed utilization of DW-MRI, and accompaniment of ocular disease. For early diagnosis of MM2C-type sCJD, we conclude that clinician should perform DW-MRI for patients with isolated dementia or cortical visual disturbance.

Factors Associated With Lack of Vision Improvement in Children With Cortical Visual Impairment.

BACKGROUND: Improvement in vision has been noted in children with cortical visual impairment (CVI), resulting from disparate types of brain injury. The purpose of our study was to determine the risk factors associated with poor recovery of vision in this group of patients. METHODS: Case records of children who were born before 2010 with at least 4 follow-up visits for CVI were reviewed for underlying etiologies of CVI, visual acuity (VA), and associated neurological and ophthalmological disorders. VA was assessed in 6 qualitative grades. Changes in VA were recorded as the difference between the grades of VA at presentation and the last follow-up visit. The outcome was calculated as a ratio of actual improvement to potential improvement in grades of qualitative VA. Multiple linear regression determined factors associated with lack of vision improvement in all children and based on etiology. RESULTS: Fifty-three children with CVI were identified. The median age at presentation was 13.6 months (range: 2.9-76.4 months) and the median follow-up was 5.8 years (1.1-16.3 years). CVI resulted from central nervous system (CNS) malformation (9.4%), hypoxic/inflammatory injury (15.1%), seizures (24.5%), and combined causes (51.0%). Vision improvement was noted in 83% of children. Lack of VA improvement was associated with older age at presentation in all children with CVI and within each etiological group except CNS malformation. None of the other investigated variables were associated with poor recovery of VA. CONCLUSIONS: Most of the children with CVI showed improvement in vision. Older age at presentation, but not etiology of CVI, was associated with poor improvement in VA.

Case Report of Vestibularly evoked Visual Hallucinations in a Patient with Cortical Blindness.

Previous work has shown that caloric vestibular stimulation may evoke elementary visual hallucinations in healthy humans, such as different colored lines or dots. Surprisingly, the present case report reveals that the same stimulation can evoke visual hallucinations in a patient with cortical blindness, but with fundamentally different characteristics. The visual hallucinations evoked were complex and came from daily life experiences. Moreover, they did not include other senses beyond vision. This case report suggests that in conditions of cerebral pathology, vestibular-visual interaction may stimulate hallucinogenic subcortical, or undamaged cortical structures, and arouse mechanisms that can generate visual images exclusively.

Síndrome de Anton con presentación atípica / Anton's syndrome with atypical presentation

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Síndrome de encefalopatía posterior reversible y síndrome de vasoconstricción cerebral reversible: diagnóstico diferencial de cefalea en el puerperio / Posterior reversible encephalopathy syndrome and cerebrovascular constriction syndrome in the differential diagnosis of post-partum headaches

La cefalea en el periodo puerperal puede ser debida a múltiples causas. En el contexto de una paciente que ha recibido previamente analgesia epidural, la cefalea puede ser etiquetada de cefalea pospunción dural, a pesar de que sus características no sean típicas de este cuadro clínico. Presentamos el caso de una puérpera con punción dural accidental durante la realización de anestesia epidural, que desarrolló cefalea en el tercer día posparto. Se sospechó inicialmente cefalea pospunción dural, pero la aparición posterior de convulsiones y pérdida de visión hizo que se reconsiderase el diagnóstico. A propósito de este caso revisamos las características clínicas y fisiopatológicas del síndrome de encefalopatía posterior reversible y el síndrome de vasoconstricción cerebral reversible, así como el diagnóstico diferencial de la cefalea en el periodo puerperal (AU)

Postpartum headache can be due to many causes. In a patient with previous epidural analgesia, the headache can be attributed to post-dural puncture headache, even if the symptoms are not typical of this clinical entity. We report a case of a post-partum with accidental dural tap during the insertion of an epidural catheter for labour analgesia, and who referred to headaches in the third post-partum day. Initially, a post-dural puncture headache was suspected, but the subsequent onset of seizures and visual impairment meant that the diagnosis had to be reconsidered. In this case report, the clinical and pathophysiological features of posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome, as well as the differential diagnosis of post-partum headaches are described (AU)

Ceguera cortical transitoria secundaria a angiografía cerebral / Transient cortical blindness after cerebral angiography

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Síndrome de Anton secundario a necrosis occipital por intoxicación aguda con metanol / Anton’s syndrome due to occipital necrosis after methanol poisoning

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Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes.

BACKGROUND: To gain more insight into genetic causes of cerebral visual impairment (CVI) in children and to compare ophthalmological findings between genetic and acquired forms of CVI. METHODS: The clinical data of 309 individuals (mainly children) with CVI, and a visual acuity ≤ 0.3 were analyzed for etiology and ocular variables. A differentiation was made between acquired and genetic causes. However, in persons with West syndrome or hydrocephalus, it might be impossible to unravel whether CVI is caused by the seizure disorder or increased intracranial pressure or by the underlying disorder (that in itself can be acquired or genetic). In two subgroups, individuals with 'purely' acquired CVI and with 'purely' genetic CVI, the ocular variables (such as strabismus, pale optic disc and visual field defects) were compared. RESULTS: It was possible to identify a putative cause for CVI in 60% (184/309) of the cohort. In the remaining 40% the etiology could not be determined. A 'purely' acquired cause was identified in 80 of the patients (26%). West syndrome and/or hydrocephalus was identified in 21 patients (7%), and in 17 patients (6%) both an acquired cause and West and/or hydrocephalus was present. In 66 patients (21%) a genetic diagnosis was obtained, of which 38 (12%) had other possible risk factor (acquired, preterm birth, West syndrome or hydrocephalus), making differentiation between acquired and genetic not possible. In the remaining 28 patients (9%) a 'purely' genetic cause was identified.CVI was identified for the first time in several genetic syndromes, such as ATR-X, Mowat-Wilson, and Pitt Hopkins syndrome. In the subgroup with 'purely' acquired causes (N = 80) strabismus (88% versus 64%), pale optic discs (65% versus 27%) and visual field defects (72% versus 30%) could be observed more frequent than in the subgroup with 'purely' genetic disorders (N = 28). CONCLUSIONS: We conclude that CVI can be part of a genetic syndrome and that abnormal ocular findings are present more frequently in acquired forms of CVI.

Amaurosis cortical aguda secundaria a preeclampsia / Acute cortical blindness secondary to preeclampsia

La amaurosis cortical aguda es una complicación dramática y poco común de la preeclampsia. Se presenta un caso de paciente de 29 años con diagnóstico de preeclampsia grave quien describió deterioro de la agudeza visual repentino en el puerperio inmediato. El fondo de ojo fue normal. La paciente identificaba la luz intensa. Las pupilas estaban reactivas y no se observo la presencia de nistagmo. Se le realizó una resonancia magnética cuyos resultados fueron normales, por lo que se realizó el diagnóstico de amaurosis cortical aguda.

Acute cortical blindness is an uncommon and dramatic complication of preeclampsia. We present a case of a 29 years-old patient with diagnosis of severe preeclampsia who described a sudden loss of visual acuity during immediate puerperium. Fundi were normal. Pupils were reactive and there was no nystagmus A magnetic resonance were performed with normal results, because diagnosis of acute cortical blindness was done.

An update on progress and the changing epidemiology of causes of childhood blindness worldwide.

PURPOSE: To summarize the available data on pediatric blinding disease worldwide and to present current information on childhood blindness in the United States. METHODS: A systematic search of world literature published since 1999 was conducted. Data also were solicited from each state school for the blind in the United States. RESULTS: In developing countries, 7% to 31% of childhood blindness and visual impairment is avoidable, 10% to 58% is treatable, and 3% to 28% is preventable. Corneal opacification is the leading cause of blindness in Africa, but the rate has decreased significantly from 56% in 1999 to 28% in 2012. There is no national registry of the blind in the United States, and most schools for the blind do not maintain data regarding the cause of blindness in their students. From those schools that do have such information, the top three causes are cortical visual impairment, optic nerve hypoplasia, and retinopathy of prematurity, which have not changed in past 10 years. CONCLUSIONS: There are marked regional differences in the causes of blindness in children, apparently based on socioeconomic factors that limit prevention and treatment schemes. In the United States, the 3 leading causes of childhood blindness appear to be cortical visual impairment, optic nerve hypoplasia, and retinopathy of prematurity; a national registry of the blind would allow accumulation of more complete and reliable data for accurate determination of the prevalence of each.

Ceguera cortical postoperatoria tras lobectomía pulmonar superior derecha / Postoperative cortical blindness after right upper lung lobectomy

La alteración de la visión tras la cirugía no oftalmológica es una complicación grave que puede tener consecuencias devastadoras por su potencial irreversibilidad, lo que conlleva problemas no sólo médicos, sino también legales. Se han identificado múltiples causas de afección de la visión durante el periodo perioperatorio, ya sea por lesión del nervio óptico o por causa extraocular (en las vías neurópticas y/o la corteza cerebral). Todas ellas pueden tener un origen multifactorial y todavía hay controversia en cuanto a su patogenia y su tratamiento. Presentamos el caso de una paciente intervenida de cirugía torácica que presentó en el postoperatorio una amaurosis bilateral, resuelta favorablemente(AU)

Changes in vision after non-ophthalmic surgery are a serious complication that can have devastating consequences due to its potential irreversibility. This not only leads to medical problems, but also legal ones. Many causes that affect sight during the peri-operative period have been identified, whether due to optic nerve damage or of extra-ocular origin (in the neuro-optic pathways and/or cerebral cortex). All these may have a multifactorial origin, and there is still controversy as regards it pathogenesis and treatment. We present the case of a thoracic surgery patient who had a bilateral amaurosis in the post-operative period, which had a favourable outcome(AU)

Cortical blindness associated with autonomic dysreflexia in a man with tetraplegia: a rare but serious complication.

CONTEXT: To describe a case of a 44-year-old man with complete C4 tetraplegia who developed transient cortical blindness in the subacute setting following episodes of autonomic dysreflexia. FINDINGS: Transient cortical blindness the day after surgery for appendicitis that had resulted in severe autonomic dysreflexia (AD) requiring aggressive blood pressure management. Imaging showed no evidence of acute stroke, but did show vasospasm in the occipital lobes. Vision improved over the next couple of months. CONCLUSION/CLINICAL RELEVANCE: This case illustrates a possible profound vasomotor phenomenon (cortical blindness) associated with AD and its symptomatic treatment. Early recognition of AD and treatment of its underlying cause cannot be overemphasized.

Predicting comorbidities with neuroimaging in children with cerebral palsy.

A population-based registry was used to ascertain whether neuroimaging findings of children with cerebral palsy could predict the occurrence of certain comorbidities. Neuroimaging findings and comorbidities data were extracted from the Quebec Cerebral Palsy Registry for children born in a 4-year birth interval (1999-2002) covering half of the province's population. Neuroimaging studies were classified into 10 mutually exclusive categories (periventricular white matter injury/leukomalacia, cerebral malformation, cerebral vascular accident, deep gray matter injury, superficial gray matter injury, diffuse gray matter injury, intracranial hemorrhage, infection, nonspecific findings, and normal). Comorbidities studied included cortical blindness, severe auditory impairment, inability to communicate verbally, assisted feeding, and the presence of afebrile seizures in the prior 12 months. Neuroimaging results were available for a total of 213 children. Only deep gray matter injury (defined as signal abnormality or volume loss in subcortical gray matter, n = 9) was significantly (P < 0.05) linked with the occurrence of both the inability to communicate verbally (n = 5, 55.6% vs n = 46, 22.5%, P = 0.04) and with a higher mean number of comorbidities (1.67 vs 0.70, P < 0.01), and therefore with increased burden of comorbidities. These findings may improve our ability to prognosticate the outcome of children with cerebral palsy, enabling targeted early direct interventions.