Serial Magnetic Resonance Imaging Studies in a Case of Late Onset Globoid Cell Leukodystrophy

Tada, Kazuya; Taniike, Masako; Ono, Junya; Tsukamoto, Hiroko; Inui, Koji; Okada, Shintaro

doi:10.1055/s-2008-1071363

Cited by 16 publications

(4 citation statements)

References 4 publications

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“…Supratentorially, white matter abnormalities show a centrifugal pattern with an additional postero-anterior gradient [15,16]. With progression of the disease, practically all white matter structures become abnormal, and diffuse brain atrophy develops.…”

Section: Globoid Cell Leukodystrophy (Krabbe Disease)mentioning

confidence: 99%

Diffusion-weighted MR imaging in leukodystrophies

Patay

2005

Eur Radiol

104

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Leukodystrophies are genetically determined metabolic diseases, in which the underlying biochemical abnormality interferes with the normal build-up and/or maintenance of myelin, which leads to hypo-(or arrested) myelination, or dysmyelination with resultant demyelination. Although conventional magnetic resonance imaging has significantly contributed to recent progress in the diagnostic work-up of these diseases, diffusion-weighted imaging has the potential to further improve our understanding of underlying pathological processes and their dynamics through the assessment of normal and abnormal diffusion properties of cerebral white matter. Evaluation of conventional diffusionweighted and ADC map images allows the detection of major diffusion abnormalities and the identification of various edema types, of which the socalled myelin edema is particularly relevant to leukodystrophies. Depending on the nature of histopathological changes, stage and progression gradient of diseases, various diffusionweighted imaging patterns may be seen in leukodystrophies. Absent or low-grade myelin edema is found in mucopolysaccharidoses, GM gangliosidoses, Zellweger disease, adrenomyeloneuropathy, L-2-hydroxyglutaric aciduria, non-ketotic hyperglycinemia, classical phenylketonuria, Van der Knaap disease and the vanishing white matter, medium grade myelin edema in metachromatic leukodystrophy, X-linked adrenoleukodystrophy and HMG coenzyme lyase deficiency and high grade edema in Krabbe disease, Canavan disease, hyperhomocystinemias, maple syrup urine disease and leukodystrophy with brainstem and spinal cord involvement and high lactate.

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Section: Globoid Cell Leukodystrophy (Krabbe Disease)mentioning

confidence: 99%

Diffusion-weighted MR imaging in leukodystrophies

Patay

2005

Eur Radiol

104

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“…Demais exames gerais como ionograma, gasometria venosa, avaliação hematológica e triagem urinária para erros inatos do metabolismo usualmente são normais. No LCR podemos encontrar, na maioria dos pacientes, hiperproteinorraquia com valores entre 70 a 450 mg/dl 12 . No caso apresentado, a proteinorraquia estava dentro dos limites da normalidade, entretanto, com a forte suspeita clínica e eletroneuromiografia mostrando diminuição nas velocidades de condução sensitivo-motora, a dosagem enzimática foi realizada, confirmando o diagnós-tico.…”

Section: Discussionunclassified

“…A ressonância nuclear magnética de crânio mostra lesões de atrofia, principalmente em áreas onde a mielinização é mais precoce. Lesões simétricas na substân-cia branca com envolvimento do corpo caloso e atrofia cerebral progressiva também são descritas [12][13][14][15][16] .…”

Section: Discussionunclassified

Krabbe disease (globoid cell leukodystrophy): a case report

Vilanova¹,

Santos²

1998

J Pediatr (Rio J)

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ResumoObjetivo: Os autores relatam um caso da Doença de Krabbe. Métodos: Os autores relatam um caso de um paciente com involução psicomotora e irritabilidade logo nos primeiros meses de vida sendo suspeitada e confirmada a hipótese de Leucodistrofia de células globóides através dos exames subsidiários e dosagem enzimática.Resultados: O caso apresentava sinais e sintomas compatíveis com a forma infantil precoce da Doença de Krabbe sendo confirmado pela dosagem de enzima galactosilceramida beta galactosidase em cultura de fibroblastos.Conclusões: A doença de Krabbe é uma patologia rara de caracter autossômico recessivo sendo que a suspeita muitas vezes não chega a ser levantada, não chegando ao especialista para diagnóstico. Apesar de não haver tratamento específico, a orientação genética é necessária.J. pediatr. (Rio J.). 1998; 74(2):153-156: Krabbe, leucodistrofia, galactosilceramida betagalactosidase. AbstractObjective: The authors report a case of Krabbe disease. Methods:The authors report a case of patient with motor deterioration and irritability in first months of life being suspected and confirmed the hypothesis of Globoid Cell Leukodystrophy through the subsidiary exams and enzymatic dosage.Results: The case presented signs and symptoms compatible with the early onset type of Krabbe Disease, being confirmed by dosage of the enzyme galactosylceramide beta galactosidase in fibroblasts culture.Conclusions: The Krabbe Disease is a rare autosomal recessive disorder and the suspicion many times don't arrive to be lifted up, not arriving to the specialist for diagnostic. In spite of there not being specific treatment, the genetic orientation is necessary.J. pediatr. (Rio J.). 1998; 74(2):153-156: Krabbe, leukodystrophy, galactosylceramide beta galactosidase.

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“…In previous reports, cerebellar hyperintensities were seen in most patients with the infantile form [Baram et al, 1986;Choi et al, 1991;Farley et al, 19921. They have not been found in LOKD; however, there are only a few radiological [Brownsworth et al, 1985;Comtuale et al, 1995;Kurokawa et al, 1987;Tada et al, 1992;Thomas et al, 1984;Vanhanen et al, 19941 and neuropathological [Choi and Enzmann, 19931 reports on this form.…”

Section: Discussionmentioning

confidence: 99%

Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)

et al. 1996

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In the present study the clinical course and imaging of early and late‐onset forms of Krabbe disease are analyzed. We report on 11 patients with a biochemical diagnosis of galactosyl ceramide β‐galactoside deficiency. Two presented as the classic infantile form and died within the second year of life. In 9 children the first clinical signs, such as gait difficulties and visual failure, started after age 2 years. All these patients developed slow regression of motor and mental capacities, and most of them died within their first decade. In patients of both groups computed tomography (CT) and magnetic resonance imaging (MRI) were performed. In the late‐onset form, hypodensities of the central white matter and pyramidal tracts were the leading radiological signs, whereas in the early‐onset form, hyperdensities and cerebellar white matter lesions were also detected. From our results it becomes clear that variability of Krabbe disease refers not only to clinical manifestation but also to CT and MRI findings. Better knowledge of phenotypic and radiological diversity will help to understand the pathogenesis of the disease. © 1996 Wiley‐Liss, Inc.

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Serial Magnetic Resonance Imaging Studies in a Case of Late Onset Globoid Cell Leukodystrophy

Cited by 16 publications

References 4 publications

Diffusion-weighted MR imaging in leukodystrophies

Diffusion-weighted MR imaging in leukodystrophies

Krabbe disease (globoid cell leukodystrophy): a case report

Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)

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