{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T17:10:42Z","timestamp":1788109842253,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,11,18]],"date-time":"2011-11-18T00:00:00Z","timestamp":1321574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2012,2]]},"abstract":"<jats:p><jats:bold>Aim\u2002<\/jats:bold> Periventricular haemorrhagic infarction (PVHI) is a complication of preterm birth associated with cardiorespiratory instability. To date, the role of thrombophilia as a possible additional risk factor in infants with atypical timing and presentation of PVHI has not been investigated.<\/jats:p><jats:p><jats:bold>Method\u2002<\/jats:bold> This was a retrospective cohort study of preterm infants who developed PVHI with an atypical timing and presentation either of antenatal onset or late in the postnatal course in the absence of a preceding sudden deterioration of their clinical condition. In infants with atypical PVHI mutation analysis of the factor V Leiden (G1691A), prothrombin (G20210A) gene, and C677T and A1298C polymorphisms in the <jats:italic>MTHFR<\/jats:italic> gene was performed, and plasma lipoprotein(a) and homocysteine levels were measured.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Sixty\u2010two preterm infants who presented with a PVHI were studied. Seventeen had an atypical presentation (seven males, 10 females; median birthweight 1170g [range 580\u20131990g]; median gestational age 30.6wks [range 28.7\u201333.7wks]). The typical PVHI group comprised 28 males and 17 females (median birthweight 1200g [range 670\u20132210g]; median gestational age 29.6wks [range 25.3\u201333.6wks]). Among the 17 infants with atypical presentation, the factor V Leiden mutation was found in seven infants (41%) as well as in the mothers of six of these seven infants; in one infant this was concomitant with a prothrombin gene mutation. A polymorphism in the <jats:italic>MTHFR<\/jats:italic> gene was also present in these infants. In two infants with an atypical presentation who were tested for this, a mutation in the <jats:italic>COL4A1<\/jats:italic> gene was found (reported previously). All but two of the infants with an atypical presentation developed spastic unilateral cerebral palsy.<\/jats:p><jats:p><jats:bold>Interpretation\u2002<\/jats:bold> An atypical presentation of PVHI in preterm infants tends to occur more often in the presence of thrombophilia. Testing of thrombophilia, especially factor V Leiden and prothrombin gene mutation, is recommended in these infants.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2011.04135.x","type":"journal-article","created":{"date-parts":[[2011,11,18]],"date-time":"2011-11-18T12:53:22Z","timestamp":1321620802000},"page":"140-147","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":39,"title":["Atypical timing and presentation of periventricular haemorrhagic infarction in preterm infants: the role of thrombophilia"],"prefix":"10.1111","volume":"54","author":[{"given":"JOHANNA C","family":"HARTEMAN","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FLORIS","family":"GROENENDAAL","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"INGRID C","family":"VAN 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