Quasi-Moyamoya Disease and Heterozygosity for Homocystinuria in a Five-Year-Old Girl

R. van Diemen-Steenvoorde; O. van Nieuwenhuizen; J. B. C. de Klerk; M. Duran

doi:10.1055/s-2008-1071474

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Neuropediatrics 1990; 21(2): 110-112
DOI: 10.1055/s-2008-1071474

Case report

Quasi-Moyamoya Disease and Heterozygosity for Homocystinuria in a Five-Year-Old Girl

R. van Diemen-Steenvoorde , O. van Nieuwenhuizen , J. B. C. de Klerk¹ , M. Duran

University Children's Hospital, "Het Wilhelmina Kinderziekenhuis", Nieuwe Gracht 137, 3501 CA Utrecht, The Netherlands
¹Present address: University Children's Hospital, "Het Sophia Kinderziekenhuis", Gordelweg 160, 3038 GE Rotterdam, The Netherlands

Further Information

Publication History

Publication Date:
19 March 2008 (online)

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Abstract

We report a patient with quasi-Moyamoya disease who presented with acute left hemiparesis. Routine metabolic evaluation was normal. However, by performing a methionine loading test and measurement of cystathionine synthase activity in cultured fibroblasts the diagnosis of heterozygosity for homocystinuria (HC) was established.

Only recently it has been shown that heterozygosity for HC is a risk factor for premature cerebrovascular disease in adults. The present case suggests that also in children with cerebrovascular disorders the analysis of its pathogenesis should include extensive metabolic studies on homocysteine metabolism.

Key words

Quasi-Moyamoya disease - Cerebrovascular occlusive disorder - Heterozygosity for homocystinuria

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