TABLE 1.

Summary of Children Who Presented With ICH and a Family History of HHT*

Case NumberAgeGenderAVM ConfirmationFamily HistoryLinkage to Endoglin GeneOutcome
1NewbornMaleAutopsyMother, uncle, maternal grandmother, maternal great-grandmotherYesDeath
24 wkFemaleAutopsyFather, 2 aunts, uncle, paternal grandfatherYesDeath
36 yFemaleMRIMother, 2 aunts, uncle, maternal grandmother, cousinsYesSignificant cognitive and motor impairment
47 yMaleAutopsyMother, 2 aunts, uncle, maternal grandfatherNot testedDeath
510 yFemaleAutopsyFather, brother, 2 aunts, paternal grandmotherNot testedDeath
610 yMaleSurgeryMother, paternal grandfatherYesHemiparesis
711 yMaleSurgeryFather, brother, 2 sisters, paternal grandfatherYesSignificant cognitive and motor impairment
816 yMaleAutopsyMother, maternal grandmother, 2 auntsYesDeath
916 yMaleCT scanMother, aunt, maternal grandmotherNot testedSignificant cognitive and motor impairment
  • * Six boys and 3 girls with ICH at an average age of 8.5 years, standard deviation is 5.5 years.