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Homozygous factor‐V mutation as a genetic cause of perinatal thrombosis and cerebral palsy
Author(s) -
Harum Karen H,
Hoon Alexander H,
Kato Gregory J,
Casella James F,
Breiter Steven N,
Johnston Michael V
Publication year - 1999
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1999.tb00538.x
Subject(s) - medicine , factor v leiden , thrombosis , thrombus , cerebral palsy , cerebral infarction , stroke (engine) , venous thrombosis , cerebral venous sinus thrombosis , cardiology , pediatrics , ischemia , physical therapy , mechanical engineering , engineering
A 5‐year old girl with cerebral palsy (CP), preterm birth, postnatal aortic thrombus, and cerebellar venous infarction who is homozygous for the thrombophilic factor‐V Leiden (fVL) mutation is reported. The role of hereditary thrombophilic disorders in the development of perinatal vascular lesions such as aortic thrombi, renal‐vein thrombosis, venous‐sinus thrombosis, and cerebral infarction is unknown. This case report brings into question a potential association between fVL, perinatal vascular lesions, perinatal stroke, and CP.