Infantile hydrocephalus: A review of epidemiology, classification and causes

被引:242
作者
Tully, Hannah M. [1 ,3 ]
Dobyns, William B. [2 ,3 ]
机构
[1] Univ Washington, Dept Neurol, Seattle, WA 98195 USA
[2] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA
[3] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA USA
基金
美国国家卫生研究院;
关键词
Hydrocephalus; Aqueductal stenosis; L1CAM; Intraventricular hemorrhage; Genetics; LINKED MENTAL-RETARDATION; CONGENITAL HYDROCEPHALUS; BRAIN OVERGROWTH; CORPUS-CALLOSUM; POSTNATAL BRAIN; MUTATIONS CAUSE; MALFORMATION; VACTERL; MPDZ; GENE;
D O I
10.1016/j.ejmg.2014.06.002
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. (C) 2014 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码:359 / 368
页数:10
相关论文
共 96 条
[51]   CEREBRO-OCULAR DYSPLASIA MUSCULAR-DYSTROPHY (WALKER WARBURG) SYNDROME - FINDINGS IN 20-WEEK-OLD FETUS [J].
MILLER, G ;
LADDA, RL ;
TOWFIGHI, J .
ACTA NEUROPATHOLOGICA, 1991, 82 (03) :234-238
[52]   Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis [J].
Mirzaa, Ghayda M. ;
Conway, Robert L. ;
Gripp, Karen W. ;
Lerman-Sagie, Tally ;
Siegel, Dawn H. ;
deVries, Linda S. ;
Lev, Dorit ;
Kramer, Nancy ;
Hopkins, Elizabeth ;
Graham, John M., Jr. ;
Dobyns, William B. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (02) :269-291
[53]  
MITCHELL EA, 1980, AUST PAEDIATR J, V16, P290
[54]   Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia [J].
Morava, É ;
Bartsch, O ;
Czakó, M ;
Frensel, A ;
Kalscheuer, V ;
Kárteszi, J ;
Kosztolányi, G .
CLINICAL DYSMORPHOLOGY, 2003, 12 (02) :123-127
[55]   Nationwide survey of the etiology and associated conditions of prenatally and postnattally diagnosed congenital hydrocephalus in Japan [J].
Moritake, Kouzo ;
Nagai, Hidemasa ;
Miyazaki, Takeshi ;
Nagasako, Noriko ;
Yamasaki, Mami ;
Tamakoshi, Akiko .
NEUROLOGIA MEDICO-CHIRURGICA, 2007, 47 (10) :448-452
[56]   Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay [J].
Muller, Eric A. ;
Aradhya, Swaroop ;
Atkin, Joan F. ;
Carmany, Erin P. ;
Elliott, Alison M. ;
Chudley, Albert E. ;
Clark, Robin D. ;
Everman, David B. ;
Garner, Shannon ;
Hall, Bryan D. ;
Herman, Gail E. ;
Kivuva, Emma ;
Ramanathan, Subhadra ;
Stevenson, David A. ;
Stockton, David W. ;
Hudgins, Louanne .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (02) :391-399
[57]   Familial aggregation of congenital hydrocephalus in a nationwide cohort [J].
Munch, Tina Noergaard ;
Rostgaard, Klaus ;
Rasmussen, Marie-Louise Hee ;
Wohlfahrt, Jan ;
Juhler, Marianne ;
Melbye, Mads .
BRAIN, 2012, 135 :2409-2415
[58]  
Munch TN, 2014, J NEUROLOGY NEUROSUR
[59]   Classification of hydrocephalus: critical analysis of classification categories and advantages of "Multi-categorical Hydrocephalus Classification" (Mc HC) [J].
Oi, Shizuo .
CHILDS NERVOUS SYSTEM, 2011, 27 (10) :1523-1533
[60]   Epidemiological assessment of misoprostol teratogenicity [J].
Orioli, IM ;
Castilla, EE .
BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2000, 107 (04) :519-523