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Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.
Abstract Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is primarily characterized by migraine, stroke, mood disturbances, and cognitive decline. Ataxia has seldom been reported as a presenting symptom. Here, we review reports of CADASIL presenting as ataxia and compare these to the first pathologically confirmed case of CADASIL presenting with progressive ataxia. A 50-year-old woman presented with progressive truncal ataxia. Brain magnetic resonance imaging (MRI) revealed white matter hyperintensities in the bilateral anterior temporal lobes, external capsules...
Source: Cerebellum - July 29, 2020 Category: Neuroscience Authors: Park DG, Min JH, Sohn SH, Sohn YB, Yoon JH Tags: Cerebellum Source Type: research

Unusual Symptoms of Coronavirus: What We Know So Far
While most people are familiar with the hallmark symptoms of COVID-19 by now—cough, fever, muscle aches, headaches and difficulty breathing—a new crop of medical conditions are emerging from the more than 4 million confirmed cases of the disease around the world. These include skin rashes, diarrhea, kidney abnormalities and potentially life-threatening blood clots. It’s not unusual for viruses to directly infect and affect different tissues and organs in the body, but it is a bit unusual for a primarily respiratory virus like SARS-CoV-2, which is responsible for COVID-19, to have such a wide-ranging reach...
Source: TIME: Health - May 19, 2020 Category: Consumer Health News Authors: Alice Park Tags: Uncategorized COVID-19 Source Type: news

Disseminated cutaneous herpes zoster and multiple cerebral infarcts in an adult with diabetes mellitus
We present the case of a patient with a medical history of type 2 diabetes mellitus (DM) who experienced disseminated cutaneous VZV infection followed by multiple cerebral infarcts associated with VZV vasculopathy. Brain magnetic resonance imaging revealed multiple hyperintense lesions over the bilateral deep white matter and basal ganglia. A skin biopsy revealed small-vessel leukocytoclastic vasculitis with neutrophilic, lymphocytic, and eosinophilic infiltration. This case report describes the rare finding of cutaneous leukocytoclastic vasculitis in VZV infection and highlights that VZV infection is an uncommon but criti...
Source: Journal of NeuroVirology - January 14, 2020 Category: Neurology Source Type: research

Mechanisms of kidney disease in Sneddon's syndrome: Case report and literature review 
.
We report a case of Sneddon's syndrome with chronic kidney disease, associated with features of endarteritis obliterans in the skin and the kidney. The clinical presentation of our patient is compared to previously reported cases of Sneddon's syndrome with biopsy-proven kidney disease. We also discuss the differential diagnosis, pathophysiological mechanisms, relationship with antiphospholipid syndrome, and management of patients with Sneddon's syndrome and kidney disease. This clinical observation supports the systemic nature of Sneddon's syndrome and provides insights into the mechanisms by which this rare but probably u...
Source: Clinical Nephrology - October 28, 2019 Category: Urology & Nephrology Authors: Ghislain L, Aydin S, Marot L, Demoulin N, Morelle J Tags: Clin Nephrol Source Type: research

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).
We report a case of a 42 year old man with recurrent transient ischemic attacks (TIA). A detailed neurologic examination revealed poor score in MMSE (20/30) defect mainly seen in recall, repetitions. Executive dysfunction, memory and language impairment were also found. Motor system examination revealed grade 3 power in right upper and lower limb with more severe weakness of distal muscles in form of grip weakness and slippage of chappals. Neuroimaging and genetic analysis for Notch-3 confirmed the diagnosis. Imaging studies suggested greater involvement in the temporal and frontal lobes along with deep areas of the brain....
Source: Journal of the Association of Physicians of India - October 3, 2019 Category: General Medicine Tags: J Assoc Physicians India Source Type: research

A Young Woman With A History of Stroke and Recurrent Migraine Headaches
A 34-year-old woman with a history of recurrent migraine without aura headaches, right pontine stroke, and recurrent small vessel subcortical infarcts presented to the emergency department with complaints of intermittent blurry vision and worsening headache. Magnetic resonance imaging of the brain was performed (Figure  1). Three 4-mm punch biopsies were performed on the normal skin of the right upper extremity, and a blood sample was submitted for NOTCH3 (notch receptor 3) genetic testing. Electron microscopy revealed the presence of granular osmiophilic material in the basement membrane of capillary smooth musc le cells...
Source: Mayo Clinic Proceedings - May 31, 2019 Category: Internal Medicine Authors: Emily Carr, Lana Joudeh Tags: Medical image Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Clinical, radiological, and histological characteristics of Chinese type 2 diabetic patients with diabetic scleredema: an observational study
ConclusionOur reports suggest that DS is relatively rare in Chinese patients with diabetes. DS occurs both in middle-aged and elderly patients (male predominantly), overweight or obese, having long-term poorly controlled type 2 diabetes, and presenting a high incidence of microvascular complications, hypertension, neuropathy, and ischemic cerebral stroke. High LDL-C level, nicotine abuse, and alcohol abuse may be risk factors. MRI could be preferable to assess the severity of DS non-invasively.
Source: International Journal of Diabetes in Developing Countries - December 18, 2018 Category: Endocrinology Source Type: research

Nuclear abnormalities in vascular myocytes in cerebral autosomal ‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Cerebral autosomal ‐dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a stroke and dementia syndrome with degeneration and loss of vascular smooth muscle cells (VSMCs). The disease is due to mutations inNOTCH3 playing an important role in VSMC differentiation, proliferation and apoptosis. Searching for a possible cause of VSMC dysfunction in CADASIL, we investigated morphology and proliferative activity the affected myocytes. In material from autopsy brains and skin ‐muscle biopsies of patients with CADASIL diagnosis, assessment of VSMCs in arterial vessels at the level of light and e...
Source: Neuropathology - November 6, 2018 Category: Neurology Authors: Dorota Dziewulska, Ewelina Nycz, Cecylia Rajczewska ‐Oleszkiewicz, Jacek Bojakowski, Dorota Sulejczak Tags: Original Article Source Type: research

Intravascular large B-cell lymphoma presenting as multiple stroke: A case report
Conclusion: IVLBCL is an aggressive disease with high mortality. Timely diagnosis and treatment can be lifesaving.
Source: Medicine - October 1, 2018 Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

Neurologic attack and dynamic perfusion abnormality in neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in cells in the central, peripheral, and autonomic nervous system and visceral organs. Although clinical diagnosis was difficult until recently, an increasing number of adult cases of leukoencephalopathy have been diagnosed antemortem with NIID based on the characteristic hyperintensity in the corticomedullary junction on diffusion-weighted imaging (DWI) and confirmatory skin biopsy.1 While adult-onset NIID is characterized by slowly progressive dementia, it may also present with acute...
Source: Neurology Clinical Practice - December 11, 2017 Category: Neurology Authors: Fujita, K., Osaki, Y., Miyamoto, R., Shimatani, Y., Abe, T., Sumikura, H., Murayama, S., Izumi, Y., Kaji, R. Tags: MRI, SPECT, DWI, All Cognitive Disorders/Dementia Case Source Type: research

A Case of Recurrent Ischemic Stroke due to Intravascular Lymphomatosis, Undiagnosed by Random Skin Biopsy and Brain Imaging
We report a 68-year-old man who presented with transient ideomotor apraxia and mildly elevated soluble interleukin-2 receptor levels. He was initially diagnosed with aortogenic embolic stroke. He developed rapidly progressive neurological manifestations with enlargement of brain lesions on brain computed tomography and magnetic resonance imaging and died 3 months after symptom onset. The diagnosis of IVL could not be made by random skin biopsy, but was finally made at autopsy. For the early diagnosis, sufficient random skin biopsy or brain biopsy should be planned when suspected.Case Rep Neurol 2017;9:234 –240
Source: Case Reports in Neurology - October 25, 2017 Category: Neurology Source Type: research

Endocrine Disruptors and Health Effects in Africa: A Call for Action
Conclusion: To address the many challenges posed by EDCs, we argue that Africans should take the lead in prioritization and evaluation of environmental hazards, including EDCs. We recommend the institution of education and training programs for chemical users, adoption of the precautionary principle, establishment of biomonitoring programs, and funding of community-based epidemiology and wildlife research programs led and funded by African institutes and private companies. https://doi.org/10.1289/EHP1774 Received: 16 February 2017 Revised: 22 May 2017 Accepted: 24 May 2017 Published: 22 August 2017 Address correspond...
Source: EHP Research - August 23, 2017 Category: Environmental Health Authors: Daniil Lyalko Tags: Commentary Source Type: research

Misdiagnosis of CADASIL: A single Medical Center experience (P1.251)
Conclusions:CADASIL is the most prevalent monogenic cerebral small-vessel arteriopathy. Despite wide availability of genetic testing, misdiagnosis and delay diagnosis are common. We encourage for enhanced awareness of CADASIL among patients with migraines with aura, recurrent TIAs or subcortical ischemic strokes, and mood disorder, in order to provide appropriate multidisciplinary treatment, psychological support and genetic counselingStudy Supported by: n/aDisclosure: Dr. Ortiz-Garcia has nothing to disclose. Dr. Orjuela has nothing to disclose. Dr. Sweis has nothing to disclose. Dr. Biller has received personal compensat...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Ortiz-Garcia, J., Orjuela, K., Sweis, R., Biller, J. Tags: Genetic Stroke Syndromes, Biomarkers, and Translational/Basic Research Source Type: research

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