Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome

被引：12

作者：

Saito, Yoshiaki ^{[1
]}

Kubota, Masaya ^{[2
]}

Kurosawa, Kenji ^{[3
]}

Ichihashi, Izumi ^{[4
]}

Kaneko, Yuu ^{[5
]}

Hattori, Ayako ^{[1
]}

Komaki, Hirofumi ^{[1
]}

Nakagawa, Eiji ^{[1
]}

Sugai, Kenji ^{[1
]}

Sasaki, Masayuki ^{[1
]}

机构：

[1] Natl Ctr Neurol & Psychiat, Natl Ctr Hosp, Dept Child Neurol, Tokyo 1878551, Japan

[2] Natl Ctr Child Hlth & Dev, Div Neurol, Tokyo, Japan

[3] Kanagawa Childrens Med Ctr, Clin Res Inst, Div Med Genet, Kanagawa, Japan

[4] Takatsu Cent Hosp, Dept Pediat, Kawasaki, Kanagawa, Japan

[5] Natl Ctr Neurol & Psychiat, Dept Neurosurg, Tokyo 1878551, Japan

来源：

BRAIN & DEVELOPMENT | 2011年 / 33卷 / 05期

关键词：

Bilateral perisylvian polymicrogyria; Microdeletion; West syndrome; MONOSOMY; 1P36; ABNORMALITIES; DELINEATION; EPILEPSY;

D O I：

10.1016/j.braindev.2010.07.004

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 3-months-old boy presented with partial seizures that soon evolved into infantile spasms. Magnetic resonance imaging revealed bilateral perisylvian polymicrogyria with right-sided predominance. ACTH therapy successfully controlled epilepsy and electroencephalograms were normalized. Conventional G-banded chromosomal analysis was performed due to his distinctive features and a derivative chromosome I derived from parental balanced translocation with a karyoptype of 46,XY,der(1)41;4)(p36.23;q35) was detected. Fluorescent in sine hybridization analysis confirmed the deleted region of 1p36 as large as 8.6 Mb. This is the first delineation of concurrent complications of infantile spasms and polymicrogyria in patient with 1p36 deletion. 1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms. (C) 2010 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

引用

页码：437 / 441

页数：5

共 50 条

[21] Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results
Zhang, Xun
He, Ping
Han, Jin
Pan, Min
Yang, Xin
Zhen, Li
Liao, Can
Li, Dong-Zhi
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2021, 34 (13) : 2180 - 2184
[22] 1p36 microdeletion syndrome
Ortigosa Gomez, S.
Seidel Padilla, V.
Cusco, I.
Aznar Lain, G.
ANALES DE PEDIATRIA, 2011, 74 (03): : 197 - 199
[23] Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
Kurosawa, K
Kawame, H
Okamoto, N
Ochiai, Y
Akatsuka, A
Kobayashi, M
Shimohira, M
Mizuno, S
Wada, K
Fukushima, Y
Kawawaki, H
Yamamoto, T
Masuno, M
Imaizumi, K
Kuroki, Y
BRAIN & DEVELOPMENT, 2005, 27 (05) : 378 - 382
[24] Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
Zanardo, Evelin Aline
Piazzon, Flavia Balbo
Dutra, Roberta Lelis
Dias, Alexandre Torchio
Montenegro, Marilia Moreira
Novo-Filho, Gil Monteiro
Moura Machado Costa, Thais Virginia
Nascimento, Amom Mendes
Kim, Chong Ae
Kulikowski, Leslie Domenici
MOLECULAR GENETICS AND GENOMICS, 2014, 289 (06) : 1037 - 1043
[25] Prenatal findings in 1p36 deletion syndrome: New cases and a literature review
Guterman, Sarah
Beneteau, Claire
Redon, Sylvia
Dupont, Celine
Missirian, Chantal
Jaeger, Pauline
Herve, Berenice
Jacquin, Clemence
Douet-Guilbert, Nathalie
Till, Marianne
Tabet, Anne-Claude
Moradkhani, Kamran
Malan, Valerie
Doco-Fenzy, Martine
Vialard, Francois
PRENATAL DIAGNOSIS, 2019, 39 (10) : 871 - 882
[26] Delineating the Phenotype of 1p36 Deletion in Adolescents and Adults
Brazil, Ashley
Stanford, Kevin
Smolarek, Teresa
Hopkin, Robert
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (10) : 2496 - 2503
[27] Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
Arndt, Anne-Karin
Schafer, Sebastian
Drenckhahn, Jorg-Detlef
Sabeh, M. Khaled
Plovie, Eva R.
Caliebe, Almuth
Klopocki, Eva
Musso, Gabriel
Werdich, Andreas A.
Kalwa, Hermann
Heinig, Matthias
Padera, Robert F.
Wassilew, Katharina
Bluhm, Julia
Harnack, Christine
Martitz, Janine
Barton, Paul J.
Greutmann, Matthias
Berger, Felix
Hubner, Norbert
Siebert, Reiner
Kramer, Hans-Heiner
Cook, Stuart A.
MacRae, Calum A.
Klaassen, Sabine
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 93 (01) : 67 - 77
[28] 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
Jacquin, Clemence
Landais, Emilie
Poirsier, Celine
Afenjar, Alexandra
Akhavi, Ahmad
Bednarek, Nathalie
Benech, Caroline
Bonnard, Adeline
Bosquet, Damien
Burglen, Lydie
Callier, Patrick
Chantot-Bastaraud, Sandra
Coubes, Christine
Coutton, Charles
Delobel, Bruno
Descharmes, Margaux
Dupont, Jean-Michel
Gatinois, Vincent
Gruchy, Nicolas
Guterman, Sarah
Heddar, Abdelkader
Herissant, Lucas
Heron, Delphine
Isidor, Bertrand
Jaeger, Pauline
Jouret, Guillaume
Keren, Boris
Kuentz, Paul
Le Caignec, Cedric
Levy, Jonathan
Lopez, Nathalie
Manssens, Zoe
Martin-Coignard, Dominique
Marey, Isabelle
Mignot, Cyril
Missirian, Chantal
Pebrel-Richard, Celine
Pinson, Lucile
Puechberty, Jacques
Redon, Sylvia
Sanlaville, Damien
Spodenkiewicz, Marta
Tabet, Anne-Claude
Verloes, Alain
Vieville, Gaelle
Yardin, Catherine
Vialard, Francois
Doco-Fenzy, Martine
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (02) : 445 - 458
[29] Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome
Danese, Carla
Pignatto, Silvia
Lanzetta, Paolo
JOURNAL OF AAPOS, 2021, 25 (06): : 368 - +
[30] Pathologic Features of Dilated Cardiomyopathy with Localized Noncompaction in a Child with Deletion 1p36 Syndrome
Pearce, F. Bennett
Litovsky, Silvio H.
Dabal, Robert J.
Robin, Nathaniel
Dure, Leon J.
George, James F.
Kirklin, James K.
CONGENITAL HEART DISEASE, 2012, 7 (01) : 59 - 61

← 1 2 3 4 5 →