Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: Case report and review of the literature

Guy Young, M. Catherine Driscoll

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

The carbohydrate-deficient glycoprotein syndromes are a group of recently described autosomal recessive, metabolic defects affecting multiple systems. The disorder is caused by inefficient posttranslational glycosylation of glycoproteins. Patients with the syndrome present early in life with psychomotor retardation, seizures, hypotonia, and stroke-like episodes. They also have dysmorphic features including almond-shaped eyes, constant squint, inverted nipples, and buttock fat pads. One of the features of the syndrome is coagulopathy, and we report here a patient who presented with a prolonged activated partial thromboplastin time, and was subsequently diagnosed with the carbohydrate-deficient glycoprotein syndrome. We also summarize the results of five previously published studies of the coagulation system in these patients. Most of the reported patients are deficient in factor XI, protein C, antithrombin III, and protein S. Other coagulation proteins are less frequently affected. Both bleeding and thrombosis have been observed, yet the cause of the stroke-like episodes remains speculative. The carbohydrate-deficient glycoprotein syndrome is an increasingly recognized multisystem disorder affecting hemostasis, and thus will involve clinical hematologists as part of a multidisciplinary team caring for patients with the syndrome.

Original languageEnglish (US)
Pages (from-to)66-69
Number of pages4
JournalAmerican Journal of Hematology
Volume60
Issue number1
DOIs
StatePublished - 1999
Externally publishedYes

Fingerprint

Congenital Disorders of Glycosylation
Stroke
Factor XI
Antithrombin Proteins
Buttocks
Muscle Hypotonia
Nipples
Antithrombin III
Partial Thromboplastin Time
Strabismus
Protein S
Protein C
Hemostasis
Glycosylation
Adipose Tissue
Glycoproteins
Seizures
Thrombosis
Hemorrhage
Proteins

Keywords

  • Antithrombin III deficiency
  • Carbohydrate-deficient glycoprotein syndrome
  • Factor XI deficiency
  • Protein C deficiency

ASJC Scopus subject areas

  • Hematology

Cite this

Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome : Case report and review of the literature. / Young, Guy; Driscoll, M. Catherine.

In: American Journal of Hematology, Vol. 60, No. 1, 1999, p. 66-69.

Research output: Contribution to journalArticle

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