West syndrome in a patient with balanced translocation t(X;18)(p22;p11.2)

被引：7

作者：

Akabori, Shie ^{[1
]}

Takano, Tomoyuki

Fujito, Hiroshi

Takeuchi, Yoshihiro

机构：

[1] Shiga Univ Med Sci, Dept Pediat, Shiga 5202192, Japan

[2] Hosp Yasu, Dept Pediat, Shiga, Japan

来源：

PEDIATRIC NEUROLOGY | 2007年 / 37卷 / 01期

关键词：

D O I：

10.1016/j.pediatrneurol.2007.02.014

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a case of West syndrome with the balanced translocation t(X;18)(p22;p11.2). Treatment with high-dose vitamin B6, adrenocorticotropic hormone, thyrotropin-releasing hormone, and antiepileptic compounds was not effective, and the patient exhibited persistent refractory seizures and severe developmental delays. Although no mutation analysis and X chromosome inactivation were performed, we suggest that the chromosomal abnormality in the present patient is the main etiologic factor responsible for the infantile spasms and severe developmental delay. (c) 2007 by Elsevier Inc. All rights reserved.

引用

页码：64 / 66

页数：3

共 14 条

[1] CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients [J].

Archer, H. L. ;

Evans, J. ;

Edwards, S. ;

Colley, J. ;

Newbury-Ecob, R. ;

O'Callaghan, F. ;

Huyton, M. ;

O'Regan, M. ;

Tolmie, J. ;

Sampson, J. ;

Clarke, A. ;

Osborne, J. .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (09) :729-734

[2] Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1 [J].

Bruyere, H ;

Lewis, S ;

Wood, S ;

MacLeod, PJ ;

Langlois, S .

CLINICAL GENETICS, 1999, 55 (03) :173-181

[3] The X-linked infantile spasms syndrome (MIM 308350) maps to xp11.4-Xpter in two pedigrees [J].

Claes, S ;

Devriendt, K ;

Lagae, L ;

Ceulemans, B ;

Dom, L ;

Casaer, P ;

Raeymaekers, P ;

Cassiman, JJ ;

Fryns, JP .

ANNALS OF NEUROLOGY, 1997, 42 (03) :360-364

[4]

FEINBERG AP, 1977, DEV MED CHILD NEUROL, V19, P524

[5] Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review [J].

Grosso, S. ;

Brogna, A. ;

Bazzotti, S. ;

Renieri, A. ;

Morgese, G. ;

Balestri, P. .

BRAIN & DEVELOPMENT, 2007, 29 (04) :239-242

[6] Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation [J].

Kalscheuer, VM ;

Tao, J ;

Donnelly, A ;

Hollway, G ;

Schwinger, E ;

Kübart, S ;

Menzel, C ;

Hoeltzenbein, M ;

Tommerup, N ;

Eyre, H ;

Harbord, M ;

Haan, E ;

Sutherland, GR ;

Ropers, HH ;

Gécz, J .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (06) :1401-1411

[7]

MOHNISH S, 2005, DEV MED CHILD NEUROL, V47, P133

[8] Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region [J].

Montini, E ;

Andolfi, G ;

Caruso, A ;

Buchner, G ;

Walpole, SM ;

Mariani, M ;

Consalez, GG ;

Trump, D ;

Ballabio, A ;

Franco, B .

GENOMICS, 1998, 51 (03) :427-433

[9] PRENATAL ETIOLOGIES OF WEST SYNDROME [J].

OHTAHARA, S ;

OHTSUKA, Y ;

YAMATOGI, Y ;

OKA, E ;

YOSHINAGA, H ;

SATO, M .

EPILEPSIA, 1993, 34 (04) :716-722

[10] FUNCTIONAL DISOMIES OF THE X-CHROMOSOME INFLUENCE THE CELL SELECTION AND HENCE THE X-INACTIVATION PATTERN IN FEMALES WITH BALANCED X-AUTOSOME TRANSLOCATIONS - A REVIEW OF 122 CASES [J].

SCHMIDT, M ;

DUSART, D .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (02) :161-169

← 1 2 →