Report and review of the fetal brain disruption sequence

被引:40
作者
Corona-Rivera, JR
Corona-Rivera, E
Rornero-Velarde, E
Hernández-Rocha, J
Bobadilla-Morales, L
Corona-Rivera, A
机构
[1] Univ Guadalajara, Lab Genet Humana & Clin Asesoramiento Genet, Carrera Med, Ctr Ciencias Salud, Guadalajara 44340, Jalisco, Mexico
[2] Hosp Civil Guadalajara Dr Juan I Menchaca, Div Pediat, Hosp Escuela, Unidad Estudios Nutr Infantil, Guadalajara, Spain
[3] Hosp Civil Guadalajara Dr Juan I Menchaca, Div Pediat, Hosp Escuela, Serv Neurol Pediat, Guadalajara, Spain
关键词
aprosencephaly; atelencephaly; central nervous system; hydranencephaly; microcephaly;
D O I
10.1007/s004310100813
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
The fetal brain disruption sequence (FBDS), a rare cause of extreme microcephaly, is described in a patient and compared with 19 previously reported cases. Clinical findings present in almost all patients included: severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, prominent occipital bone, scalp rugae with normal hair patterning and marked neurological impairment. Early death occurred in 7/20 cases. The FBDS was sporadic in 17 out of 19 reported cases supporting a low recurrence risk for genetic counselling purposes. A group of related observations in cases were thromboembolic phenomenon following death of the co-twin. vascular and/or haematological involvement by prenatal cytornegalovirus infection, prenatal cocaine exposure, direct vascular fetal trauma (cordocentesis) and fetal vascular changes after a maternal car accident causing intracranial bleeding and brain damage. Normal scalp hair pattern in all cases and the second or third trimester location of the disruptive event in two cases suggest that in the FBDS, brain growth is normal throughout the first 18 weeks of gestation at least. Conclusion: pathogenic factors suggest that different forms of vascular injury to the fetal brain (emboli, haemorrhage, vasoconstriction, disseminated intravascular coagulation) can produce partial brain destruction, diminished intracranial pression and skull collapse in the fetal brain disruption sequence.
引用
收藏
页码:664 / 667
页数:4
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