Childhood posterior circulation arterial ischemic stroke – An unusual case with a possible COVID-19-related arteriopathy

Viral infections are known to increase predilection to stroke and coronavirus disease 2019 (COVID-19) has proven these concerns true. We are presenting the case of a 6-year-old previously normal male child diagnosed with posterior circulation stroke who had all etiological workups negative except for the COVID antibody. Imaging showed thrombi over the V3 segment of the vertebral artery at C1–C2 level causing near complete occlusion, with embolic infarct in the bilateral posterior inferior cerebellar artery, bilateral posterior cerebral artery, bilateral anterior inferior cerebellar artery, and the left superior cerebellar artery. The child was managed with methylprednisolone, anticoagulation, and supportive care and was able to restore near-normal neurological status within months. This case is unique in terms of the involvement of posterior circulation which is rare in the pediatric population. A possibility of inflammation-related arteriopathy secondary to infection should be considered in the etiological workup of stroke. Anti-inflammatory measures to control cytokine storm along with supportive care will ensure a good outcome.

Aneurisma aórtico torácico com trombose associada em Bugio-preto (Alouatta caraya) / Thoracic aortic aneurysm with associated thrombosis in black-and-gold howler monkey (Alouatta caraya)

O aneurisma é uma dilatação anormal e permanente das artérias, resultante do enfraquecimento da parede do vaso adelgaçamento da camada média e enfraquecimento da camada elástica. Em animais, a maioria dos casos de aneurisma tem origem idiopática e são detectados acidentalmente durante a necropsia. O objetivo deste trabalho é relatar um caso de aneurisma aórtico com trombose associada em Bugio-preto(Alouatta caraya), bem como seus aspectos patológicos. O animal era adulto, macho, pertencente ao Centro Nacional de Primatas (CENP), na cidade de Ananindeua-PA, foi encaminhado para exame necroscópico para investigação da causa mortis. No histórico do animal, não constava qualquer enfermidade. O animal apresentava bom escore de condição corporal com preservação da topografia anatômica dos órgãos. Entretanto, observou-se presença de aumento de volume localizado em aorta torácica, a 1,4 cm da base do coração. Na abertura aórtica foi observado dilatações de tamanhos variados e, no interior da maior dilatação, notou-se uma estrutura de coloração vermelho escuro, aderida, de aspecto seco e superfície áspera, medindo 1,5 cm. Aneurismas aórticos em primatas não humanos não são comuns, porém já foram reportados na literatura. O diagnóstico precoce utilizando exames complementares é importante, porém, ainda há recursos não empregados na rotina veterinária tornando ainda mais difícil o diagnóstico e prevenção. Por isso, na medicina veterinária, os aneurismas são detectados acidentalmente durante a necropsia. Com base nos achados anatomopatológicos, concluiu-se que o animal veio a óbito por trombose associada a aneurisma aórtico.

An aneurysm is an abnormal and permanent dilation of the arteries, resulting from the weakening of the vessel wall.thinning of the middle layer and weakening of the elastic layer. In animals, most cases of aneurysm are idiopathic. This paper aimed to report a case of aortic aneurysm with associated thrombosis in a black-and-gold howler monkey(Alouatta caraya), as well as its pathological aspects. The animal was an adult, male, belonging to the National Primate Center (CENP), in the city of Ananindeua-PA, that was referred for necroscopic examination to investigate the causa mortis. In the animal's history, there was no disease. The animal had a good body condition score with preservation of the anatomical topography of the organs. However, there was an increase in volume located in the thoracic aorta, 1.4 cm from the base of the heart. In the aortic opening, dilations of different sizes were observed, and inside the largest dilatation, a structure of dark red color, adhered, with a dry appearance and rough surface, measuring 1.5 cm was noted in addition to dilations of different sizes. Inside the largest cavitation, a dark red structure was observed, adhered, with a dry appearance and rough surface, measuring 1.5 cm. Aortic aneurysms in non-human primates are incommon, but have been reported in the literature. Early diagnosis using complementary exams is important, however, there are still resources not used in the veterinary routine, making diagnosis and prevention even more difficult. Therefore, in veterinary medicine, aneurysms are accidentally detected during necropsy. Based on the anatomopathological findings, it was concluded that the animal died due to thrombosis associated with an aortic aneurysm.

Diagnostic criteria and research progress on pancreas allograft pathology / 器官移植

Pancreas transplantation and pancreas-kidney transplantation are the optimal treatment for renal failure caused by type 1 diabetes mellitus, partial type 2 diabetes mellitus and their complications. Pancreas transplantation mainly includes simultaneous pancreas-kidney transplantation (SPK), pancreas transplantation after kidney transplantation (PAK) and pancreas transplantation alone (PTA). Among all types of pancreas transplantation, biopsy of pancreas allograft remains the best method for definitively diagnosing rejection and differentiate it from other complications. In this article, biopsy methods of pancreas allograft and related research progress, diagnostic criteria and research progress on rejection of pancreas allograft biopsy, and main complications and pathological manifestations of pancreas allograft were illustrated, aiming to provide reference for guiding the clinical diagnosis of the above mentioned complications and ensuring the long-term survival of pancreas allografts and recipients.

High-temperature requirement A serine peptidase 1-related cerebral small vessel disease / 中华神经科杂志

The high-temperature requirement A serine peptidase 1 (HTRA1) gene mutation results in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy and autosomal dominant cerebral small vessel disease (CSVD). This article described the definition, clinical features, magnetic resonance imaging manifestations, genetic and pathological examinations and treatment plans of HTRA1 related CSVD and highlighted the distinction between HTRA1 related CSVD and other inherited disorders with white matter involvement, and proposed a diagnostic pathway for timely recognition of HTRA1 related CSVD in a routine clinical environment. Ultimately, in addition to the conventional treatment of CSVD, effective targeted treatment methods still need to be established.

Remarkable Clinical Improvement Following Microsurgical Resection of Left Lingual Gyrus Cerebral Cavernous Malformation: A Case Report

Moyamoya disease is a chronic and unusual cerebrovascular disorder characterized by progressive stenosis and occlusion of the distal portions of internal carotid arteries and its main branches within the circle of Willis. Posterior circulation (vertebral and basilar arteries) may also be affected; however, this presentation is uncommon. As well as stenosis of the terminal portion of intracranial arteries, it is seen the development of a network of collateral vessels abnormally dilated at the base of the brain with an aspect of a "puff of smoke," whose term in Japanese is described as "moyamoya." The present study aims to report two consecutive cases of patients who presented to our service with different clinical manifestations. Further investigation with digital subtraction angiography showed a moyamoya pattern.

Myotonic dystrophy type 1 with anterior temporal white matter changes mimicking cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

@#Myotonic dystrophy type 1 is the most common type of muscular dystrophy in adults characterized by progressive myopathy, myotonia, and occasional systemic involvement. This is a case of myotonic dystrophy type 1 with cognitive decline showing brain magnetic resonance image abnormality mimicking cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Accidente cerebrovascular pediátrico isquémico en niños: reporte de un caso / Ischemic Childhood Stroke: a case report

A stroke is a rare entity in pediatrics patients; that implies a very important clinical challenge. It is produced by the interruption of flow at the vascular level, producing neurological focus. Causes of childhood stroke are varied and different from adults; constituting one of the 10 leading causes of childhood mortality. We present of previously healthy 6 years old male patient who was admitted for hemiparesis, who was studied with neuroimaging and laboratory; diagnosed of ischemic stroke

CADASIL with clinical manifestations of lumbago, hunchback and Parkinson’s syndrome / 中华医学遗传学杂志

Objective@#To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as lumbago, hunchback and Parkinson’s syndrome.@*Methods@#A 49-years-old male CADASIL patient was reported. Results of clinical examination, neuroimaging and genetic testing were analyzed. His family members were also subjected to genetic testing. Related literature was reviewed.@*Results@#The patient had no typical symptoms of CADASIL such as headache, repeated stroke, dementia and emotional disorders, but progressive Parkinson’s syndrome, late onset lumbago, hunchback, dysphagia, and diplopia. Brain MRI showed left basal ganglia and external capsule lacunar infarction. Genetic testing revealed a point mutation c. 1630C>T (p.R544C) in exon 11 of the NOTCH3 gene. A heterozygous mutation was detected in the same gene in his mother, elder sister and younger brother, all of whom showed different clinical phenotypes.@*Conclusion@#The clinical features of CADASIL are heterogeneous. Lumbago, humpback, and Parkinson’s syndrome may be a rare clinical phenotype of CADASIL.

Relationship between clinical phenotype and NOTCH3 genotype in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy / 第二军医大学学报

Objective To explore the relationship between exon mutations of NOTCH3 gene and clinical phenotype in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Methods We consecutively included 30 CADASIL patients with clinical symptoms in 15 pedigrees, who visited Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine from May 2015 to Dec. 2017, and collected the clinical data and genetic analysis results. Furthermore, we analyzed the relationship between the exon mutations of NOTCH3 gene and clinical phenotypes, including age at onset, first clinical symptoms and frequency of symptomatic ischemic stroke. Results Twelve mutation sites of NOTCH3 gene were detected in the 15 pedigrees. Seven of them were located in exon 4, 3 in exon 11, 1 in exon 19, and 1 in exon 20. The onset age of the patients carrying exon 11 mutations was the latest ([53.6±13.3] years, n＝7), followed by the patients carrying exon 4 mutations ([42.7±5.7] years, n＝15). The onset age of 8 patients with mutations in other exons (exon 19 and 20) was (33.5±7.5) years, which was significantly earlier compared with the patients with exon 4 and 11 mutation (P0.01 and P0.05). Most of the patients with mutations of exon 4 had motor and speech disorders (11/15, 73.3%), while ones with mutations of exon 19 and 20 had cognitive impairment (7/8, 87.5%). Most of the patients (11/15, 73.3%) carrying mutations in exon 4 had motor and speech disorders at onset, while 7 of 8 patients (87.5%) with mutations in exon 19 and exon 20 had impaired cognition at onset. The times of symptomatic ischemic stroke in patients with mutations in exon 4 was 3 (median) and in patients with mutations in exon 11 was 2 (median), and no symptomatic ischemic stroke occurred in the patients with mutations in exon 19 and 20. Conclusion Exon 4 and exon 11 of NOTCH3 gene are hotspots of mutations in the cohort of CADASIL cases, and the mutations in different exons are associated with onset age, first symptoms and symptomatic ischemic stroke.

Vasculitis primaria del sistema nervioso central en población pediátrica: reporte de caso y revisión de la literatura / Childhood primary vasculitis of the central nervous system: Case report and literature review

RESUMEN La vasculitis primaria del sistema nervioso central es una enfermedad infrecuente que puede afectar a adultos y población pediátrica. Puede comprometer los vasos sanguíneos cerebrales tanto de mediano o gran calibre como los de pequeño calibre y estar asociada a procesos inflamatorios, infecciosos, tumorales o ser de origen idiopático. Describimos el caso de un adolescente con deterioro neurológico focal dado por hemiplejía derecha en quien se descartaron otras causas más frecuentes de isquemia cerebral, con diagnóstico final de vasculitis primaria del sistema nervioso central asociada a infección por virus de Epstein Barr.

ABSTRACT Primary angiitis of the central nervous system is an uncommon disease that may affect adults and the paediatric population. It can involve both the medium-large and small sized cerebral blood vessels, and can be associated with inflammatory, infectious, tumour processes, or of idiopathic origin. The case is presented of an adolescent with focal neurological impairment due to right hemiplegia, in whom other more frequent causes of cerebral ischaemia were ruled out. The final diagnosis was Epstein Barr virus associated with primary angiitis of the central nervous system.

Diferenciación clínica del déficit cognitivo del CADASIL con respecto a otras demencias vasculares / Clinical differentiation of the cognitive deficit of CADASIL whit respect to the other vascular dementias

En el mundo hay unos 47 millones de personas que padecen demencia, y cada año se registran cerca de 10 millones de nuevos casos. La demencia es una de las principales causas de discapacidad y dependencia entre las personas mayores de 65 años. La demencia vascular constituye la segunda causa de demencia en adultos mayores y en ocasiones su diagnóstico es poco asertivo por la variedad y similitud de síntomas entre las diferentes enfermedades que originan demencia vascular, incluyendo CADASIL (acrónimo inglés de Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy); particularmente el déficit cognitivo es de los síntomas más complejos de diagnóstico, teniendo en cuenta que su manifestación clínica depende de la magnitud y localización de la lesión. La enfermedad de CADASIL, aunque se constituye como una infrecuente causa de demencia vascular de naturaleza hereditaria a nivel mundial, representa una patología de gran importancia en el ámbito nacional, dado que en familias colombianas se ha reportado mutaciones que conllevan a dicha patología. Por lo tanto, su diagnóstico y tratamiento constituyen un reto para el personal clínico, sabiendo que la identificación temprana y precisa es la mejor estrategia para evitar la progresión precoz de la enfermedad y el mejoramiento de la calidad de vida del paciente. De acuerdo con lo anterior, se realizó una revisión de la diferenciación clínica del déficit cognitivo del CADASIL con respecto a las demás demencias vasculares, con el fin de generar una herramienta que apoye la diferenciación clínica de dicha patología.

In the world, there are approximately 47 million people who have dementia, and every year they register near 10 million new cases. The dementia is one of the principal reasons for disability and dependence between people older than 65 years old. Vascular dementia constitutes the second reason of dementia in the elders, and sometimes the diagnosis is slightly assertive because of the variety and similarity of symptoms between the different diseases that originate vascular dementia, including CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). Particularly, the cognitive deficit is one of the most complex symptoms of diagnosis, bearing in mind that its clinical manifestation depends on the magnitude and location of the injury. CADASIL disease, though it constituted as an infrequent reason of vascular dementia of hereditary nature worldwide, represents a pathology of great importance in the national area, because, in Colombian families, there have been reported mutations that carry to the above-mentioned pathology. Therefore, its diagnosis and treatment constitute a challenge for the clinical personnel, knowing that the early and precise identification is the best strategy to avoid the rapid progression of the disease and the improvement of the quality of life of the patient. In agreement with the previous information, there was made a review of the clinical differentiation of the cognitive deficit of CADASIL regarding other vascular dementias, to generate a tool that supports the clinical differentiation of the pathology mentioned above.

Clinical Observations on Knife Needle Microinvasive Operation for Cervical Spondylotic Arteriopathy / 上海针灸杂志

Objective To investigate the clinical efficacy of knife needle microinvasive operation for cervical spondylotic arteriopathy. Method Sixty patients with cervical spondylotic arteriopathy were randomized, in order of admission times, to observation and control groups, 30 cases each. The observation group received three-step knife needle microinvasive operation and the control group, single suboccipital deltoid muscle lysis. The therapeutic effects were compared between the two groups of patients. Result In the two groups of patients the score changed significantly at the end of and three months after treatment compared with before and had a tendency towards gradual increase (P<0.05). The score difference values between pre-treatment and post-treatment and between post-treatment and three-month follow-up were significantly higher in the observation group than in the control group (P<0.05). Repeated measurement analysis integrogram showed significant differences in the scores between the two groups. The total efficacy rate was significantly higher in the observation group (96.7%) than in the control group (76.7%) (P<0.05). Conclusion Knife needle microinvasive operation has clinically a marked therapeutic effect on cervical spondylotic arteriopathy.

Clinical Observations on Acupuncture Point Injection plus Wen Dan Decoction for Cervical Vertigo of Wind-phlegm Stagnation Type / 上海针灸杂志

Objective To investigate the clinical efficacy of acupuncture point injection plus Wen Dan decoction in treating cervical vertigo of wind-phlegm stagnation type. Method Sixty patients with cervical vertigo of wind-phlegm stagnation type were randomized to treatment and control groups, 30 cases each. The control group was treated with Betahistine mesilate tablets and the treatment group, acupuncture point injection plus Wen Dan decoction in addition. One course of treatment consisted of 14 days. The effects on cervical vertigo were evaluated after two courses of treatment. Result The total efficacy rate was 90.0% in the treatment group and 73.3% in the control group; there was a statistically significant difference between the two groups (P<0.05). Blood lipid levels, hemorheological indicators, and bilateral vertebral artery (VA) and basilar artery (BA) mean flow velocity were better in the treatment group than in the control group (P<0.05). Conclusion Acupuncture point injection plus Wen Dan decoction based on Betahistine mesilate tablets has clinically a better therapeutic effect on cervical vertigo of wind-phlegm stagnation type.

Observations on the Efficacy of Sheng's Six-meridian Diagnosis and Treatment-based Acupuncture in Treating Cervical Spondylotic Arteriopathy / 上海针灸杂志

Objective To investigate the clinical efficacy of Sheng's six-meridian diagnosis and treatment-based acupuncture in treating cervical spondylotic arteriopathy.Method Seventy patients with cervical spondylotic arteriopathy were randomly allocated to treatment and control groups, 35 cases each. The treatment group received Sheng's six-meridian diagnosis and treatment-based acupuncture and the control group, conventional acupuncture. Doppler-detected vertebral artery blood flow velocity was measured, and the clinical symptom and sign score and the cervical vertigo symptom and functional assessment scale score were recorded in the two groups before and after treatment. The clinical therapeutic effects were compared between the two groups.Result The total efficacy rate was 85.7% in the treatment group and 62.9% in the control group; there was a statistically significant difference between the two groups (P<0.05). There were statistically significant pre-/post-treatment differences in Doppler-detected vertebral artery blood flow velocity, the clinical symptom and sign score and the cervical vertigo symptom and functional assessment scale score in the two groups (P<0.01,P<0.05).Conclusion Sheng's six-meridian diagnosis and treatment-based acupuncture is an effective way to treat cervical spondylotic arteriopathy.

Observations on the Efficacy of Sheng's Six-meridian Diagnosis and Treatment-based Acupuncture in Treating Cervical Spondylotic Arteriopathy / 上海针灸杂志

Objective To investigate the clinical efficacy of Sheng's six-meridian diagnosis and treatment-based acupuncture in treating cervical spondylotic arteriopathy.Method Seventy patients with cervical spondylotic arteriopathy were randomly allocated to treatment and control groups, 35 cases each. The treatment group received Sheng's six-meridian diagnosis and treatment-based acupuncture and the control group, conventional acupuncture. Doppler-detected vertebral artery blood flow velocity was measured, and the clinical symptom and sign score and the cervical vertigo symptom and functional assessment scale score were recorded in the two groups before and after treatment. The clinical therapeutic effects were compared between the two groups.Result The total efficacy rate was 85.7% in the treatment group and 62.9% in the control group; there was a statistically significant difference between the two groups (P<0.05). There were statistically significant pre-/post-treatment differences in Doppler-detected vertebral artery blood flow velocity, the clinical symptom and sign score and the cervical vertigo symptom and functional assessment scale score in the two groups (P<0.01,P<0.05).Conclusion Sheng's six-meridian diagnosis and treatment-based acupuncture is an effective way to treat cervical spondylotic arteriopathy.

The Effect of Microinvasive Thread Embedding on Vertebral Artery Blood Flow in Cervical Spondylotic Vertebral Arteriopathy / 上海针灸杂志

Objective To investigate the effect of microinvasive thread embedding on vertebral artery blood flow in cervical spondylotic vertebral arteriopathy and further ascerta in that microinvasive thread embedding is a new long-acting acupuncture method for treating cervical spondylotic vertebral arteriopathy.Method Sixty patients meeting the inclusion criteria were randomly allocated to acupuncture and thread embedding groups.The acupuncture group received conventional acupuncture and the thread embedding group, microinvasive thread embedding.The symptoms and function were scored using theEvaluation Scale for Cervical Vertigoand bilateral vertebral artery blood flow was measured using transcranial Doppler after one day and three weeks of treatment.Result The symptoms of vertigo improved somewhatin the thread embedding group at one day after treatment compared with before treatment (P0.05). The total efficacy rate was 83.3% in the thread embedding group, which was higher than 60.0% in the acupuncture group (P<0.05).Conclusion Microinvasive thread embedding can improve the symptoms, vertebral artery blood flow and the quality of life in patients with cervical spondylotic vertebral arteriopathy.

Tratamiento neurorehabilitador en paciente con arteriopatía cerebral hereditaria / Neurorehabilitation treatment in a patient with hereditary cerebral arteriopathy

La arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía, es poco frecuente y con escasos informes en la literatura médica y tiene una mayor prevalencia en el continente europeo. Este cuadro clínico se caracteriza por migrañas con aura, enfermedad cerebrovascular isquémica, demencia y alteraciones psiquiátricas. Su diagnóstico se confirma cuando se detecta una alteración genética característica y/o por cambios anatomopatológicos ocurridos en la piel. Se presenta el caso de un paciente del sexo masculino, de 49 años de edad que ha presentado manifestaciones neurológicas episódicas de cefalea tipo migraña y hemiparesia derecha. Se realizó biopsia de piel, encontrándose alteraciones típicas de esta enfermedad. Se describe la evolución clínica detallada a través del tratamiento neurorehabilitador en un paciente con arteriopatía cerebral hereditaria. Se aplica este tratamiento por 21 días, basado en técnicas de ejercicios neurológicos, cuidados posturales, terapia ocupacional, acupuntura, ozonoterapia, psicológicos, para obtener una mayor independencia en las actividades de la vida diaria, restablecer funciones y mejorar la discapacidad que presenta el paciente. Se describen los cambios ocurridos en las actividades de la vida diaria del paciente y su evolución favorable después del tratamiento neurorehabilitador. La arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía es un terreno poco transitado por los centros de rehabilitación. La ausencia de un tratamiento etiológico hace que la rehabilitación aplicada y practicada permita mantener -periódicamente- un grado mayor de independencia con una mejora de la calidad de vida del paciente y sus familiares. El diagnóstico precoz y la fisioterapia brindan nuevas oportunidades al paciente(AU)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is rare and there are few reports in the literature, with a higher prevalence in Europe. This clinical condition is characterized by migraine with aura, ischemic cerebrovascular disease, dementia and psychiatric disorders. It is done a detailed clinical description of the evolution and diagnosis of this hereditary disease. Diagnosis is confirmed by detecting a characteristic and / or pathological changes in the skin. We present the case of a 49-year-old male patient who has presented episodic neurological manifestations of migraine-type headache and right hemiparesis. A skin biopsy was performed, finding typical alterations of this disease. Detailed clinical course is described through neuro-rehabilitating treatment in a patient with hereditary cerebral arteriopathy. This treatment is applied for 21 days, based on techniques of neurological exercises, postural care, occupational therapy, acupuncture, ozone therapy, psychological, to obtain greater independence in daily living activities, restore functions and improve the disability in this patient. This paper describes the changes that occurred in the patient daily life activities and his favorable evolution after the neuraorehabilitator treatment. Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy is a gray area for rehabilitation centers. The absence of an etiological treatment means that the rehabilitation applied and practiced allows greater degree of independence to be maintained periodically with an improvement in the quality of life of the patient and family. Early diagnosis and physiotherapy offer new opportunities for the patient(AU)

Phenotypic Features of Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Subjects with R544C Mutation

BACKGROUND AND PURPOSE: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most-common single gene disorder of cerebral small vessel disease. There is no definite evidence of genotype-phenotype correlation in CADASIL. However, recent studies have shown the unique phenotypic feature of NOTCH3 R544C mutation. METHODS: We investigated the phenotypic spectrum of NOTCH3 R544C mutation in 73 CADASIL patients in Jeju between April 2012 and January 2014. RESULTS: Of the 73 subjects from 60 unrelated families included in this study, 40 (55%) were men. The mean age of the subjects was 62.2±12.2 (range 34-86 years). Cerebral infarction was the most frequent manifestation (37%), followed by cognitive impairment (32%), headache (17%), psychiatric symptom (16%), intracerebral hemorrhage (12%), transient ischemic attack (7%), and seizure (1%). The mean age of the subjects with ischemic or hemorrhagic episodes was 64.9±10.9 (range 41-86 years). A diagnosis of dementia was made in 12 subjects (16%). The mean age of the subjects with dementia was 75.6±6.5 (range 62-86 years). About 3% of subjects were unable to walk without assistance at assessment. Only one subject had developed chronic headache before the 40s. CONCLUSIONS: Our data support the hypothesis that CADASIL patients with R544C mutation in Jeju have relatively late onset disease.

Reversible Cerebral Vasoconstriction Syndrome – A Systematic Approach.

Aims: Reversible cerebral vasoconstriction syndrome (RCVS) is a rare idiopathic clinical syndrome presenting as reversible multifocal segmental vasoconstriction of cerebral arteries, typically affecting middle aged women. A 52 year old lady with radiological features of RCVS is presented. Presentation of Case: A 52 year old lady presented with recurrent thunderclap headache. Initial laboratory and radiological investigations were normal. Over the course of two weeks she developed stroke like symptoms with haemorrhagic transformation. Serial imaging revealed development and resolution of cerebral arterial stricture. Discussion: RCVS is often an under-diagnosed entity in patients with thunderclap headache. The initial MRI may be normal but the repeat MRI after two to three weeks may show features of stroke with associated vascular abnormalities. The follow up of these cases with radiological investigations may help in precise diagnosis. Conclusion: Differentiating RCVS from other causes of thunderclap headache can significantly alter the management options and further prognosis.

Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation. CASE REPORT: A 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL. CONCLUSIONS: We suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.