scholarly journals Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

2011 ◽  
Vol 68 (5) ◽  
pp. 455-459 ◽  
Author(s):  
Zeljko Krsmanovic ◽  
Evica Dincic ◽  
Smiljana Kostic ◽  
Vesna Lackovic ◽  
Milos Bajcetic ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Case Reports ◽  
Pathological Process ◽  
Unknown Etiology ◽  
Cognitive Deterioration ◽  
Distinctive Pattern ◽  
Ultrastructural Examination ◽  
Notch 3 ◽  
Skin Biopsies ◽  
The Brain

Introduction. Fast and precise diagnostics of the disease from the large group of adult leukoencephalopathy is difficult but responsible job, because the outcome of the disease is very often determined by its name. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by the mutation of Notch 3 gene on chromosome locus 19p13. Beside the brain arterioles being the main disease targets, extracerebral small blood vessels are affected by the pathological process. Clinically present signs are recurrent ischemic strokes and vascular dementia. CADASIL in its progressive form shows a distinctive pattern of pathological changes on MRI of endocranium. The diagnosis is confirmed by the presence of granular osmiophilic material (GOM) in histopathological skin biopsies. Case reports. Two young adult patients manifested ischemic strokes of unknown etiology, cognitive deterioration, migraine and psychopathological phenomenology. MRI of endocranium pointed on CADASIL. Ultrastructural examination of skin biopsy proved the presence of GOM in the basal lamina and near smooth muscle cells of arteriole dermis leading to CADASIL diagnosis. The presence of GOM in histopathological preparation is 100% specific for CADASIL. The patients were not searched for mutation in Notch 3 gene on chromosome 19, because some other leukoencephalopathy was disregarded. Conclusion. Suggestive clinical picture, distinctive finding of endocranium MRI, the presence of GOM by ultrastructural examination of histopathological skin biopsies are sufficient to confirm CADASIL diagnosis.

scholarly journals CADASIL: case report

2012 ◽  
Vol 6 (3) ◽  
pp. 188-191
Author(s):  
Julio Cesar Vasconcelos da Silva ◽  
Emerson L. Gasparetto ◽  
Eliasz Engelhardt
Keyword(s):  
Cognitive Impairment ◽  
Case Report ◽  
Genetic Testing ◽  
Autosomal Dominant ◽  
Transient Ischemic Attacks ◽  
Imaging Studies ◽  
Notch 3 ◽  
Sensory Motor ◽  
Cerebral Arteriopathy ◽  
The Brain

ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebral arteriopathy caused by mutations in the Notch-3 gene. The diagnosis is reached by skin biopsy revealing presence of granular osmiophílic material (GOM), and/or by genetic testing for Notch-3. We report a case of a 52-year-old man with recurrent transient ischemic attacks (TIA), migraine, in addition to progressive sensory, motor and cognitive impairment. He was submitted to a neuropsychological assessment with the CERAD (Consortium to Establish a Registry for Alzheimer's Disease) battery along with other tests, as well as neuroimaging and genetic analysis for Notch-3, confirming the diagnosis. Executive function, memory, language and important apraxic changes were found. Imaging studies suggested greater involvement in the frontal lobes and deep areas of the brain.

scholarly journals Cadasil - genetic and ultrastructural diagnosis: case report

2015 ◽  
Vol 9 (4) ◽  
pp. 428-432
Author(s):  
Julio Cesar Vasconcelos da Silva ◽  
Leila Chimelli ◽  
Felipe Kenji Sudo ◽  
Eliasz Engelhardt
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Skin Biopsy ◽  
Autosomal Dominant ◽  
Transient Ischemic Attacks ◽  
Cerebral Vasculature ◽  
Ultrastructural Examination ◽  
Subcortical Dementia ◽  
Notch 3 ◽  
Negative Findings

ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent transient ischemic attacks that evolved to progressive subcortical dementia. Neuroimaging disclosed extensive leukoaraiosis and lacunar infarcts. The genetic analysis for NOTCH 3 was confirmatory. The ultrastructural examination of the skin biopsy sample, initially negative, confirmed the presence of characteristic changes (presence of granular osmiophilic material inclusions [GOM]), after the analysis of new sections of the same specimen. The present findings indicate that negative findings on ultrastructural examinations of biopsy should not exclude the diagnosis of the disease and that further analyses of the sample may be necessary to detect the presence of GOM.

scholarly journals A Rare Form of Adult Onset Leukodystrophy: Orthochromatic Leukodystrophy with Pigmented Glia

1997 ◽  
Vol 24 (2) ◽  
pp. 146-150 ◽  
Author(s):  
P. Shannon ◽  
J.R. Wherrett ◽  
S. Nag
Keyword(s):  
White Matter ◽  
Rare Condition ◽  
Brain Biopsy ◽  
Hepatic Tissue ◽  
Cerebral White Matter ◽  
Unknown Etiology ◽  
Adult Onset ◽  
Ultrastructural Examination ◽  
Biopsy Material ◽  
The Brain

ABSTRACT:Background:Orthochromatic leukodystrophy with pigmented glia and scavenger cells is a rare leukodystrophy of unknown etiology. This report describes a 42-year-old man with a history of depression, dementia and parkinsonism having the pathological features of orthochromatic leukodystrophy with pigmented glia.Methods:We reviewed the clinical history and pathology of autopsy and brain biopsy material.Results:Imaging revealed bilateral cerebral white matter hypodensities. At autopsy, the brain demonstrated a leukodystrophy affecting predominantly the cerebral hemispheres and characterized by demyelination, and cytoplasmic pigment deposits in oligodendroglia and astrocytes. The pigment had the staining properties of ceroid-lipofuschin and on ultrastructural examination was composed of membrane-bound lipid and electron-dense inclusions which had a fingerprint-like pattern. Similar pigment inclusions were not observed on ultrastructural examination of renal, splenic or hepatic tissue obtained at autopsy. The brain biopsy contained cerebral cortex with sparse subcortical white matter in which a few oligodendroglia and fewer astrocytes at the grey/white junctions showed cytoplasmic pigmentary inclusions identical to those described above. However, due to the paucity of white matter in the specimen a definite diagnosis of orthochromatic leukodystrophy with pigmented glia was not made.Conclusions:The diagnosis of orthochromatic leukodystrophy with pigmented glia and scavenger cells can only be made antemortem if the brain biopsy contains adequate white matter and although a rare condition, it should be considered in the differential diagnosis of an adult onset leukodystrophy.

scholarly journals Ultrastructural analysis of small blood vessels in skin biopsies in CADASIL

2008 ◽  
Vol 60 (4) ◽  
pp. 573-580 ◽  
Author(s):  
Vesna Lackovic ◽  
M. Bajcetic ◽  
Nadezda Sternic ◽  
V. Kostic ◽  
Jasna Zidverc ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Smooth Muscle ◽  
Blood Vessels ◽  
Autosomal Dominant ◽  
Specific Marker ◽  
Dense Bodies ◽  
Skin Biopsies ◽  
Artery Disease ◽  
Skin Blood Vessels ◽  
The Brain

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small- and medium-artery disease of the brain caused by mutation of the Notch3 gene. Very often, this disease is misdiagnosed. We examined skin biopsies in two members of the first discovered Serbian family affected by CADASIL. Electron microscopy showed that skin blood vessels of both patients contain numerous deposits of granular osmiophilic material (GOM) around vascular smooth muscle cells (VSMCs). We observed degeneration of VSMCs, reorganization of their cytoskeleton and dense bodies, disruption of myoendothelial contacts, and apoptosis. Our results suggest that the presence of GOM in small skin arteries represents a specific marker in diagnosis of CADASIL.

Severe Head Injury linked to Subsequent Development of Malignant Brain Tumour within a Short Period- A Case Report

2018 ◽  
Vol 3 (2) ◽  
Keyword(s):  
Head Injury ◽  
Brain Tumour ◽  
Severe Head Injury ◽  
Case Reports ◽  
Subsequent Development ◽  
Malignant Brain Tumour ◽  
Tumour Development ◽  
Short Period ◽  
The Brain

There have been a few case reports of head injury leading to brain tumour development in the same region as the brain injury. Here we report a case where the patient suffered a severe head injury with contusion. He recovered clinically with conservative management. Follow up Computed Tomography scan of the brain a month later showed complete resolution of the lesion. He subsequently developed malignant brain tumour in the same region as the original contusion within a very short period of 15 months. Head injury patients need close follow up especially when severe. The link between severity of head injury and malignant brain tumour development needs further evaluation. Role of anti-inflammatory agents for prevention of post traumatic brain tumours needs further exploration.

CLINICAL AND NEUROLOGICAL FEATURES OF TRAUMATIC BRAIN DISEASE DURING THE STAGES OF REHABILITATION

2020 ◽  
Vol 3 (1) ◽  
pp. 51-53
Author(s):  
Rano Azizova ◽  
◽  
Umida Shamsiyeva ◽  
Mirzohid Turabbayev ◽  
Begzod Jorayev ◽  
...  
Keyword(s):  
Mechanical Energy ◽  
Pathological Process ◽  
Brain Disease ◽  
Clinical Forms ◽  
Neurological Features ◽  
Mechanisms Of Development ◽  
The Brain

Traumatic brain disease (TBHD) is a pathological process triggered by the damaging effect of mechanical energy on the brain and is characterized — with a variety of clinical forms — by the unity of etiology, pathogenetic and sanogenetic mechanisms of development and outcomes.

scholarly journals Glia Not Neurons: Uncovering Brain Dysmaturation in a Rat Model of Alzheimer’s Disease

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 823
Author(s):  
Ekaterina A. Rudnitskaya ◽  
Tatiana A. Kozlova ◽  
Alena O. Burnyasheva ◽  
Natalia A. Stefanova ◽  
Nataliya G. Kolosova
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Prefrontal Cortex ◽  
Brain Structures ◽  
Time Frame ◽  
Oxys Rats ◽  
Unknown Etiology ◽  
Suitable Model ◽  
Model Of Alzheimer’S Disease ◽  
The Brain

Sporadic Alzheimer’s disease (AD) is a severe disorder of unknown etiology with no definite time frame of onset. Recent studies suggest that middle age is a critical period for the relevant pathological processes of AD. Nonetheless, sufficient data have accumulated supporting the hypothesis of “neurodevelopmental origin of neurodegenerative disorders”: prerequisites for neurodegeneration may occur during early brain development. Therefore, we investigated the development of the most AD-affected brain structures (hippocampus and prefrontal cortex) using an immunohistochemical approach in senescence-accelerated OXYS rats, which are considered a suitable model of the most common—sporadic—type of AD. We noticed an additional peak of neurogenesis, which coincides in time with the peak of apoptosis in the hippocampus of OXYS rats on postnatal day three. Besides, we showed signs of delayed migration of neurons to the prefrontal cortex as well as disturbances in astrocytic and microglial support of the hippocampus and prefrontal cortex during the first postnatal week. Altogether, our results point to dysmaturation during early development of the brain—especially insufficient glial support—as a possible “first hit” leading to neurodegenerative processes and AD pathology manifestation later in life.

scholarly journals A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Saba Ahmad ◽  
Luis Manon ◽  
Gifty Bhat ◽  
Jerry Machado ◽  
Alice Zalan ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cellular Differentiation ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disease ◽  
Sacrococcygeal Teratoma ◽  
Dominant Disease ◽  
The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

Management of Type 2B von Willebrand Disease during Pregnancy

2017 ◽  
Vol 137 (2) ◽  
pp. 89-92 ◽  
Author(s):  
David McLaughlin ◽  
Ron Kerr
Keyword(s):  
Autosomal Dominant ◽  
Case Reports ◽  
Management Plan ◽  
Von Willebrand Disease ◽  
Best Management ◽  
First Case ◽  
Von Willebrand ◽  
Willebrand Factor ◽  
Ristocetin Cofactor ◽  
Platelet Transfusions

Type 2B von Willebrand disease is a rare bleeding condition resulting in thrombocytopenia and a reduction in large VWF multimers. It usually has an autosomal dominant pattern of inheritance. We report the management of a patient with type 2B von Willebrand disease, whose diagnosis was confirmed by demonstration of a R1306W mutation, through her first pregnancy. The patient's von Willebrand factor (VWF) antigen and VWF ristocetin cofactor levels rose throughout pregnancy, with an associated drop in the platelet count. The patient was successfully managed through labour to a surgical delivery with VWF concentrate, platelet transfusions and tranexamic acid. The patient delivered a male baby who was found to have inherited type 2B von Willebrand disease and had a significant cephalhaematoma at delivery. The baby was managed with VWF concentrate and platelet transfusions and made a full recovery. There is a lack of evidence to guide the best management of pregnant patients with type 2B von Willebrand disease. We adopted a pragmatic management plan, in keeping with other published case reports. To the best of our knowledge, this is the first case report in which the child was found to have inherited type 2B von Willebrand disease and encountered bleeding problems, making this case unique amongst the published literature.

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