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Moyamoya syndrome with inherited proteins C and S deficiency: report of one case

Pou-Leng Cheong1, Wang-Tso Lee, Hon-Man Liu

  • 1Department of Pediatrics, Hsinchu General Hospital, Department of Health, Hsinchu, Taiwan.

Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi
|November 24, 2005
PubMed

Insights

Inherited deficiencies in Protein C (PC) and Protein S (PS) can lead to moyamoya syndrome in children. Early diagnosis and intervention, including anticoagulation and surgical revascularization, are crucial for managing this rare condition.

Area of Science:

  • Neurology
  • Vascular Biology
  • Pediatrics

Background:

  • Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of the intracranial arteries.
  • Protein C (PC) and Protein S (PS) are crucial vitamin-K-dependent anticoagulants that regulate the coagulation cascade.
  • Deficiencies in PC or PS can result in a prothrombotic state, increasing the risk of ischemic events.

Observation:

  • A 3-year-old girl presented with acute hemiparesis during herpetic gingivostomatitis.
  • Angiography revealed moyamoya syndrome, and genetic testing confirmed inherited deficiencies of both PC and PS.
  • The patient experienced neurological deterioration despite initial warfarin treatment.

Findings:

  • The patient underwent bilateral encephalo-duro-arterio-synangiosis (EDAS) and encephalo-myo-synangiosis (EMS) for progressive neurological decline.
  • Low molecular weight heparin was initiated to prevent further ischemic strokes.
  • Significant motor improvement was observed following medical and surgical interventions.

Implications:

  • This case highlights the importance of considering inherited thrombophilias, such as PC and PS deficiencies, in pediatric moyamoya syndrome.
  • Comprehensive management involving anticoagulation and revascularization surgery can improve outcomes in affected children.
  • Further research into the link between specific genetic coagulopathies and moyamoya syndrome is warranted.

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