20 results match your criteria Imaging in Progressive Multifocal Leukodystrophy

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Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Ophthalmic Genet 2018 Jan-Feb;39(1):99-102. Epub 2017 Aug 18.

a Department of Ophthalmology , Emory University , Atlanta , Georgia , USA.

Background: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene. Read More

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http://dx.doi.org/10.1080/13816810.2017.1350723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104516PMC
March 2018
22 Reads

Hereditary cerebral small vessel diseases: a review.

J Neurol Sci 2012 Nov 4;322(1-2):25-30. Epub 2012 Aug 4.

Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy.

Cerebral microangiopathies are responsible of a great number of strokes. In the recent years advances in molecular genetics identified several monogenic conditions involving cerebral small vessels and predisposing to ischemic and/or hemorrhagic stroke and diffuse white matter disease leading to vascular dementia. Clinical features and diagnostic clues of these conditions, [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), COL4A1-related cerebral small vessel diseases, autosomal dominant retinal vasculopathy with cerebral leukodystrophy (AD-RVLC), and Fabry's disease] are here reviewed. Read More

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http://dx.doi.org/10.1016/j.jns.2012.07.041DOI Listing
November 2012
12 Reads

Diagnostic algorithm for the differentiation of leukodystrophies in early MS.

Authors:
Wolfgang Köhler

J Neurol 2008 Dec;255 Suppl 6:123-6

Chefarzt der Klinik für Neurologie und neurologische Intensivmedizin, Fachkrankenhaus Hubertusburg, An der Hubertusburg, 04779, Wermsdorf, Germany.

Leukodystrophies are chronic progressive inherited white matter diseases frequently combined with an inborn error of metabolism. Some leukodystrophies clinically resemble chronic variants of multiple sclerosis (MS), while others exhibit multifocal MRI changes mimicking white matter changes known from MS imaging studies. The risk of misdiagnosing leukodystrophy as being MS is especially high in early disease stages comprising the possibility of initiating an inadequate therapy. Read More

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http://link.springer.com/content/pdf/10.1007/s00415-008-6023
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http://link.springer.com/10.1007/s00415-008-6023-9
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http://dx.doi.org/10.1007/s00415-008-6023-9DOI Listing
December 2008
2 Reads

Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations.

Brain Pathol 2009 Jan 15;19(1):39-47. Epub 2008 Apr 15.

C.S. Kubik Laboratory for Neuropathology, Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02129, USA.

Pigmented orthochromatic leukodystrophy and hereditary diffuse leukoencephalopathy with spheroids are two adult onset leukodystrophies with neuroaxonal spheroids presenting with prominent neurobehavioral, cognitive and motor symptoms. These are familial or sporadic disorders characterized by cerebral white matter degeneration including myelin and axonal loss, gliosis, macrophages and axonal spheroids. We report clinical, neuroimaging and pathological correlations of four women ages 34-50 years with adult onset leukodystrophy. Read More

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http://doi.wiley.com/10.1111/j.1750-3639.2008.00163.x
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http://dx.doi.org/10.1111/j.1750-3639.2008.00163.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757058PMC
January 2009
19 Reads

Cockayne syndrome in adults: review with clinical and pathologic study of a new case.

J Child Neurol 2006 Nov;21(11):991-1006

Albert Einstein College of Medicine, Bronx, NY 10461, USA.

Cockayne syndrome and xeroderma pigmentosum-Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2772653PMC
http://dx.doi.org/10.1177/08830738060210110101DOI Listing
November 2006
5 Reads

Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy.

NMR Biomed 2006 Jun;19(4):435-62

Department of Radiology, North Shore University Hospital, 300 Community Drive, Manhasset, NY 11030, USA.

The purpose of this paper is to facilitate the comparison of magnetic resonance (MR) spectra acquired from unknown brain lesions with published spectra in order to help identify unknown lesions in clinical settings. The paper includes lists of references for published MR spectra of various brain diseases, including pyogenic abscesses, encephalitis (herpes simplex, Rasmussen's and subacute sclerosing panencephalitis), neurocysticercosis, tuberculoma, cysts (arachnoid, epidermoid and hydatid), acute disseminated encephalomyelitis (ADEM), adrenoleukodystrophy (ALD), Alexander disease, Canavan's disease, Krabbe disease (globoid cell leukodystrophy), Leigh's disease, megalencephalic leukoencephalopathy with cysts, metachromatic leukodystrophy (MLD), Pelizaeus-Merzbacher disease, Zellweger syndrome, HIV-associated lesions [cryptococcus, lymphoma, toxoplasmosis and progressive multifocal leukoencephalopathy (PML)], hydrocephalus and tuberous sclerosis. Each list includes information on the echo time(s) (TE) of the published spectra, whether a control spectrum is shown, whether the corresponding image and voxel position are shown and the patient ages if known. Read More

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http://dx.doi.org/10.1002/nbm.1039DOI Listing
June 2006
4 Reads

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

Acta Neuropathol 2004 Jun 6;107(6):481-8. Epub 2004 Apr 6.

Department of Pathology, Dartmouth Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH 03756, USA.

We present a two-generation family consisting of a father and two daughters, who had an adult-onset leukodystrophy characterized by widespread destruction of cerebral white matter with neuroaxonal spheroids. The mode of inheritance appears to be autosomal dominant. All three patients presented with a variety of motor and cognitive symptoms, including frontal lobe signs, 4-7 years before death. Read More

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http://dx.doi.org/10.1007/s00401-004-0847-xDOI Listing
June 2004
2 Reads

[Nasu Hakola disease: a report of the first two cases in Bolivia].

Rev Neurol 2003 May 1-15;36(9):837-40

Servicio de Neurología y Neurocirugía, Hospital Obrero N.1 de la Caja Nacional de Salud, La Paz, Bolivia.

Introduction: Nasu Hakola disease (NHD) is a progressive dementia that presents accompanied by bone cysts and, at random, epilepsy. It is an autosomal recessive hereditary disease and its genetic defect is located at the 19q13.1 chromosome. Read More

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September 2003
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Clinical characteristics of children with cerebral white matter abnormalities.

Eur J Paediatr Neurol 2000 ;4(1):17-26

Department of Paediatrics, Sahlgrenska University Hospital/Ostra, Gothenburg, Sweden.

The rapidly expanding use of magnetic resonance imaging (MRI) in children with neurological impairments of unknown aetiology has revealed a large number of children with abnormalities of the cerebral white matter, some with leukodystrophy-like white matter abnormalities on MRI, but non-progressive in clinical presentation and course. The aim of this study was to investigate the clinical and neuroradiological characteristics of 26 children with white matter abnormalities of unknown origin and to find diagnostic clues or indicators of progressive versus nonprogressive disease. The typical child with white matter abnormalities was characterized by onset of symptoms within the first year of life, most often presenting as general developmental delay and hypotonia. Read More

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http://dx.doi.org/10.1053/ejpn.1999.0255DOI Listing
March 2000
3 Reads

MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy.

J Small Anim Pract 1998 Aug;39(8):401-5

Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104, USA.

A six-month-old West Highland white terrier with progressive, multifocal neurological disease was diagnosed with canine globoid cell leucodystrophy (GCL). Magnetic resonance imaging (MRI) of the brain was performed, as well as electrophysiological testing (including brainstem auditory evoked response, peripheral nerve conduction velocity, repetitive stimulation, F wave analysis and electromyography). MRI findings were consistent with diffuse, symmetrical white matter disease. Read More

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http://ftxt.eurekamag.com/003/003193996.pdf
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August 1998
2 Reads

Mycosis fungoides metastasizing to the brain parenchyma: case report.

Neurosurgery 1998 Apr;42(4):933-7

Department of Pathology, New York University Medical Center, New York 10016, USA.

Objective And Importance: Mycosis fungoides is a rare T-cell lymphoma of the skin that can, in one-half to three-quarters of patients suffering from this disease, involve the viscera in late stages of the disease. Although autopsy series performed more than 2 decades ago showed that the incidence of metastatic mycosis fungoides to the central nervous system is approximately one of seven, a total of only several dozen cases have been reported to date. As compared to meningeal involvement, intraparenchymal metastases are even rarer. Read More

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April 1998
1 Read

Familial Dandy-Walker malformation and leukodystrophy.

Pediatr Neurol 1997 May;16(4):326-8

Service de Neuropédiatrie, Clinique Saint Eloi, Montpellier, France.

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. Read More

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May 1997
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Disorders of the cerebral white matter in children. The spectrum of lesions.

Neuropediatrics 1996 Dec;27(6):295-8

Department of Paediatrics, Ostra Hospital Gothenburg, Sweden.

The use of magnetic resonance imaging (MRI) has resulted in the detection of an increasing number of children with an apparently leukodystrophic white matter. Laboratory tests and the clinical presentation, however, often do not correspond to any known entity and the course is sometimes not progressively deteriorating. Such children with white-matter changes and no known diagnosis were the subject of this Swedish multicentre study, in which MRI findings and clinical data from 100 children considered to have white-matter abnormalities were assessed during the period 1992-1995. Read More

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December 1996
2 Reads

Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency.

J Neurol Sci 1996 Jun;138(1-2):161-4

Third Department of Internal Medicine, Kagoshima University School of Medicine, Japan.

A 33-year-old male patient was admitted to our hospital because of progressive gait disturbance and involuntary movement of the neck. He showed choroideremia, distal motor neuropathy, and leukoencephalopathy on T2-weighted brain magnetic resonance imaging (MRI). Choroideremia is a rare X-linked, progressive, degenerative disease of retina and choroid. Read More

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June 1996
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Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.

Pediatr Neurol 1995 Nov;13(4):333-5

Department of Child Neurology, Istituto Neurologico C. Besta, Milan, Italy.

The clinical phenotype of multiple acyl-CoA dehydrogenase deficiency in infancy is characterized by recurrent episodes of hypoketotic hypoglycemia and lipid storage myopathy. Brain damage has been described only as a consequence of severe and protracted hypoglycemia. We describe a child who experienced normal physical and psychomotor development until the age of 3 years, who then developed progressive intention tremors, dysarthria, ataxia, and spastic tetraparesis. Read More

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November 1995
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Cerebral white-matter changes suggesting leukodystrophy in ataxia telangiectasia.

J Child Neurol 1994 Jan;9(1):31-5

Department of Neurology, West Virginia University Health Science Center, Morgantown 26506.

Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar ataxia, recurrent sinopulmonary infections, oculocutaneous telangiectasia, selective immunoglobulin deficiency, and defective cellular immunity. We report a 4-year-old girl with ataxia telangiectasia whose initial magnetic resonance imaging (MRI) scan at 17 months of age showed leukoencephalopathy compatible with a leukodystrophy, a neuroimaging feature of ataxia telangiectasia that has not been described. Ataxia telangiectasia was not suspected until the child developed more typical clinical features. Read More

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http://dx.doi.org/10.1177/088307389400900106DOI Listing
January 1994
28 Reads

[A unilateral large demyelinating lesion in the cerebral white matter with slowly progressive hemiplegia and intrathecal JC virus antibody production].

Rinsho Shinkeigaku 1993 Mar;33(3):301-6

Department of Neurology, Nihon University School of Medicine.

A 59-year-old male patient presented in 1991 with left-sided hemiplegia and hemihypesthesia and left homonymous hemianopsia, which had developed for the preceding 12 months. The cerebrospinal fluid (CSF) level of protein was mildly elevated, oligoclonal IgG band was initially negative, but finally positive and myelin basic protein was absent. Magnetic resonance imaging and X-ray computed tomography (CT) of the brain revealed a unilateral demarcated lesion extending around the posterior horn and triagular part of the right lateral ventricle, apparently capped by remarkably gadolinium enhancement at its front, which had no mass effect, and several small isolated plaques were also observed in other areas of the brain. Read More

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March 1993
2 Reads

Two possible cases of Alexander disease. Multimodal evoked potentials and MRI.

Brain Dev 1993 Mar-Apr;15(2):153-6

Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.

We describe two unrelated girls with slowly progressive leukodystrophy with macrocephaly. On MRI, both patients exhibited diffuse involvement of the cerebral white matter, excluding the internal capsule and optic radiation. Their visual-evoked potentials were normal. Read More

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November 1993
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Noninvasive CT diagnosis of infantile Alexander disease: pathologic correlation.

J Comput Assist Tomogr 1983 Jun;7(3):509-16

Noninvasive computed tomography provided the initial, accurate diagnosis of a necropsy-proven case of infantile Alexander disease, demonstrated serial changes in the intensity and distribution of leukodystrophy, and documented a progressive alteration of brain density from abnormally high attenuation to abnormally low attenuation as the disease advanced. Read More

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June 1983
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Computerized cranial tomography in cerebral diseases of white matter.

Neurology 1978 Jun;28(6):534-44

Computerized tomographic scans were performed on 31 patients with primary diseases of the white matter. Among 18 patients with multiple sclerosis, acute lesions were visualized in five, all with symptomatic cerebral hemisphere disease. Characteristic white matter lesions were also demonstrated in adrenoleukodystrophy, spongiform encephalopathy, progressive multifocal leukoencephalopathy, disseminated necrotizing leukoencephalopathy, and an undiagnosed leukoencephalopathy associated with malignancy. Read More

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June 1978
2 Reads
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