Acquired protein S deficiency due to estrogen treatment for tall stature. A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances

Heleen van Ommen, Marjolein Peters, Peter G. Barth, Peter Vreken, Ron J.A. Wanders, Joak Jaeken

Research output: Contribution to journalArticleAcademicpeer-review

33 Citations (Scopus)

Abstract

An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome type 1a. Isoelectric focusing of serum transferrin was abnormal. The activity of phosphomannomutase in leukocytes and fibroblasts was decreased. Mutation analysis of the PMM2 gene revealed the R141H/E151G genotype. These results confirm the presence of carbohydrate-deficient glycoprotein syndrome type 1a without severe psychomotor retardation.

Original languageEnglish
Pages (from-to)400-403
Number of pages4
JournalJournal of Pediatrics
Volume136
Issue number3
DOIs
Publication statusPublished - Oct 1999
Externally publishedYes

Bibliographical note

Copyright © 1999 by Mosby, Inc

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