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

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2014年 / 57卷 / 08期

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

页码：359 / 368

页数：10

共 96 条

[21] DIAGNOSTIC-CRITERIA FOR WALKER-WARBURG SYNDROME [J].

DOBYNS, WB ;

PAGON, RA ;

ARMSTRONG, D ;

CURRY, CJR ;

GREENBERG, F ;

GRIX, A ;

HOLMES, LB ;

LAXOVA, R ;

MICHELS, VV ;

ROBINOW, M ;

ZIMMERMAN, RL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (02) :195-210

[22] GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome [J].

Doherty, Dan ;

Chudley, Albert E. ;

Coghlan, Gail ;

Ishak, Gisele E. ;

Innes, A. Micheil ;

Lemire, Edmond G. ;

Rogers, R. Curtis ;

Mhanni, Aizeddin A. ;

Phelps, Ian G. ;

Jones, Steven J. M. ;

Zhan, Shing H. ;

Fejes, Anthony P. ;

Shahin, Hashem ;

Kanaan, Moien ;

Akay, Hatice ;

Tekin, Mustafa ;

Triggs-Raine, Barbara ;

Zelinski, Teresa .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (06) :1088-1093

[23] Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus [J].

Drielsma, Anais ;

Jalas, Chaim ;

Simonis, Nicolas ;

Desir, Julie ;

Simanovsky, Natalia ;

Pirson, Isabelle ;

Elpeleg, Orly ;

Abramowicz, Marc ;

Edvardson, Simon .

JOURNAL OF MEDICAL GENETICS, 2012, 49 (11) :708-712

[24] Calibration of 6q subtelomere deletions to define genotype/pheno type correlations [J].

Eash, D ;

Waggoner, D ;

Chung, J ;

Stevenson, D ;

Martinc, CL .

CLINICAL GENETICS, 2005, 67 (05) :396-403

[25] Demonstration of uneven distribution of intracranial pulsatility in hydrocephalus patients [J].

Eide, Pier K. .

JOURNAL OF NEUROSURGERY, 2008, 109 (05) :912-917

[26] Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum [J].

Ekici, A. B. ;

Hilfinger, D. ;

Jatzwauk, M. ;

Thiel, C. T. ;

Wenzel, D. ;

Lorenz, I. ;

Boltshauser, E. ;

Goecke, T. W. ;

Staatz, G. ;

Morris-Rosendahl, D. J. ;

Sticht, H. ;

Hehr, U. ;

Reis, A. ;

Rauch, A. .

MOLECULAR SYNDROMOLOGY, 2010, 1 (03) :99-112

[27] ABSENCE OF EXCESS CHROMOSOME BREAKAGE IN A PATIENT WITH VACTERL-HYDROCEPHALUS [J].

EVANS, JA ;

CHODIRKER, BN .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (01) :112-113

[28] Potential pleiotropic effects of Mpdz on vulnerability to seizures [J].

Fehr, C ;

Shirley, RL ;

Metten, P ;

Kosobud, AEK ;

Belknap, JK ;

Crabbe, JC ;

Buck, KJ .

GENES BRAIN AND BEHAVIOR, 2004, 3 (01) :8-19

[29]

FRIED K, 1972, CLIN GENET, V3, P258

[30]

Gripp K.W., 1993, COSTELLO SYNDROME

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