Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging

Percy, Alan K.; Odrezin, Gregory T.; Knowles, Paul D.; Rouah, Emilie; Armstrong, Dawna

doi:10.1007/bf00294356

Cited by 25 publications

(19 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Studies performed in human beings and in canine models have shown that damage to myelin can be visualised by magnetic resonance imaging (MRI; Kuharik and others 1988, Percy and others 1994, Barkovich 2000, 2005, McGowan and others 2000). The appearance of myelin in MRI is based upon the water content in the myelin sheath, resulting in differences in T1‐ and T2‐relaxation times.…”

Section: Introductionmentioning

confidence: 99%

Magnetic resonance imaging findings in acute canine distemper virus infection

Bathen-Noethen

Stein

Puff

et al. 2008

J of Small Animal Practice

View full text Add to dashboard Cite

Demyelination is the prominent histopathological hallmark in the acute stage of canine distemper virus infection. Magnetic resonance imaging is an important diagnostic tool in human beings to determine demyelination in the brain, for example in multiple sclerosis. Five young dogs with clinically suspected canine distemper virus infection were subjected to magnetic resonance imaging of the brain and histopathological and immunohistochemical examinations. Hyperintense lesions and loss of contrast between grey and white matter were detected in T2-weighted images in the cerebellum and/or in the brainstem of three dogs, which correlated with demyelination demonstrated in histopathological examination. Furthermore, increased signal intensities in T2-weighted images were seen in the temporal lobe of four dogs with no evidence of demyelination. Magnetic resonance imaging seems to be a sensitive tool for the visualisation of in vivo myelination defects in dogs with acute canine distemper virus infection. Postictal oedema and accumulation of antigen positive cells have to be considered an important differential diagnosis.

show abstract

Section: Introductionmentioning

confidence: 99%

Magnetic resonance imaging findings in acute canine distemper virus infection

Bathen-Noethen

Stein

Puff

et al. 2008

J of Small Animal Practice

View full text Add to dashboard Cite

show abstract

“…2,8,[12][13][14][15] In one of the individuals described by Feanny et al, 14 calcification was confirmed on autopsy. One of the cases reported by Percy et al 7 also demonstrated calcification in the deep white matter in areas undergoing degeneration and cyst formation. A further case has recently been described by Bonetti et al 16 Most recently, 17 extensive basal ganglia and white matter calcification has been reported in a child aged 6 months who had undergone a cord blood transplantation for Krabbe disease in the neonatal period.…”

Section: Discussionmentioning

confidence: 86%

“…The high attenuation areas are thought to correspond to areas of high concentration of globoid cells and proliferating glia. 4,7 MRI features are also characteristic and include periventricular and lobar white matter abnormalities, often with a radiating pattern of stripes, involvement of the posterior limb of the internal capsule and corpus callosum, and early involvement of cerebellar white matter, hilus of the dentate nucleus, and pyramidal tracts. CT and MRI provide complementary information.…”

Section: Discussionmentioning

confidence: 99%

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun

Livingston

Graziano

Pysden

et al. 2011

Develop Med Child Neuro

View full text Add to dashboard Cite

We report the cases of three children, one male and two females, with a diagnosis of early infantile Krabbe disease demonstrating intracranial calcification on computed tomography (CT). The pattern of calcification was similar in all individuals and involved the internal capsule and cerebral white matter. The presence of calcification caused some diagnostic confusion in what was otherwise a typical clinical and radiological presentation. This finding is not new and has previously been described in publications from the 1980s and 1990s reporting the CT and magnetic resonance imaging appearances of Krabbe disease. With increasing use of magnetic resonance as the first imaging modality for investigation of neurological disorders, characteristic CT appearances may be forgotten. This report serves as a reminder that Krabbe disease should be included in the differential diagnosis of disorders causing intracranial calcification.

show abstract

“…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)

View full text Add to dashboard Cite

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.

show abstract

Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging

Cited by 25 publications

References 14 publications

Magnetic resonance imaging findings in acute canine distemper virus infection

Magnetic resonance imaging findings in acute canine distemper virus infection

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun

Krabbe disease (globoid cell leukodystrophy): a case report

Contact Info

Product

Resources

About