Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study

Castro, Luiz Henrique Martins; Monteiro, Mário Luiz Ribeiro; Barbosa, Egberto Reis; Scaff, Milberto; Canelas, Horacio M.

doi:10.1590/s1516-31801994000400007

Cited by 9 publications

(3 citation statements)

References 17 publications

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“…The most frequent clinical findings in females are the characteristic whorl-like corneal opacities [2]. However, a few heterozygous female cases have been reported in which the clinical manifestations were comparable to those observed in severely affected hemizygous males, as in our case [3, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21]. The mechanism of the occurrence of Fabry’s disease as a sex-linked recessive hereditary condition in females has been explained by the Lyon hypothesis [22], which states that one of the two X chromosomes in the cell is randomly inactivated while the other is left active.…”

Section: Discussionsupporting

confidence: 60%

A Case of Symptomatic Heterozygous Female Fabry’s Disease without Detectable Mutation in the Alpha-Galactosidase Gene

Handa

Yotsumoto²,

Isobe³

et al. 2000

Dermatology

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Section: Discussionsupporting

confidence: 60%

A Case of Symptomatic Heterozygous Female Fabry’s Disease without Detectable Mutation in the Alpha-Galactosidase Gene

Handa

Yotsumoto²,

Isobe³

et al. 2000

Dermatology

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“…The dementia of Fabry's disease is a consequence of ischemic injury from these deep, penetrating blood vessels. Multiple subcorti cal strokes and diffuse white-matter disease can also occur in heterozygous women [11,21]. Other possible contrib uting factors for dementia in Fabry's disease are hyperten sion that may result from the renal failure, cardiogenic emboli, and the additional storage of ceramide trihexoside in neurons in the entorhinal cortex, hypothalamus, and amygdala [8,22], In conclusion.…”

Section: Discussionmentioning

confidence: 99%

The Vascular Dementia of Fabry's Disease

Mendez

Stanley²,

Medel

et al. 1997

Dement Geriatr Cogn Disord

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Fabry''s disease, a rare X-linked disorder of glycosphingolipid metabolism, can present as an insidious dementia in middle or later life. This genetic disorder produces a deficiency of α-galactosidase A which results in the deposition of glycosphingolipids in blood vessel walls in the brain as well as in the kidney, heart, peripheral nerves, and other organs. Among the cerebrovascular manifestations of this disorder is a vascular dementia from involvement of multiple small penetrating blood vessels. Fabry''s disease is a consideration in the work-up of an otherwise unexplained vascular dementia, particularly in males less than 65 years of age.

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“…167 Cerebral arteriopathy usually becomes clinically event in young men by the 4th decade, and occasionally in older women. 167,169,170 In young stroke victims, Fabry disease may underdiagnosed. 167,169,170 In young stroke victims, Fabry disease may underdiagnosed.…”

Section: Fabry Diseasementioning

confidence: 99%