This Article Full Text (PDF) All Versions of this Article: 0883073808330186v1 24/7/868    most recent References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Web of Science (1) Citing Articles via Scopus Google Scholar Articles by Hino-Fukuyo, N. Articles by Tsuchiya, S. PubMed PubMed Citation Articles by Hino-Fukuyo, N. Articles by Tsuchiya, S. Social Bookmarking                         What's this?

Smith-Magenis Syndrome With West Syndrome in a 5-Year-Old Girl: A Long-Term Follow-Up Study

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, naomi-h{at}zc4.so-net.ne.jp

Kazuhiro Haginoya, MD

Department of Pediatrics, Tohoku Univeristy School of Medicine, and Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan

Mitsugu Uematsu, MD

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

Tojo Nakayama, MD

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

Atsuo Kikuchi, MD

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

Shigeo Kure, MD

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan

Fumiaki Kamada, MD

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan

Yu Abe, MD

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

Natsuko Arai, MD

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

Noriko Togashi, MD

Eko-Ryoikuen, Hospital Home for Children and Persons with Severe Motor and Intellectual Disabilities, Sendai, Japan

Akira Onuma, MD

Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan

Shigeru Tsuchiya, MD

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan

Smith-Magenis syndrome is characterized by multiple congenital anomalies and mental retardation caused by the heterozygous deletion of chromosomal region 17p11.2. We present a long-term follow-up study of a girl with Smith-Magenis syndrome and West syndrome. West syndrome became apparent at 7 months of age. Since then, mental retardation, particularly in terms of language development, became increasingly more obvious. The patient's spasms and hypsarrhythmia disappeared after a course of adrenocorticotropic hormone therapy, but focal seizures reappeared at the age of 3 years and 3 months. Her craniofacial dysmorphia and mental retardation became increasingly evident compared to her condition at the onset of West syndrome. Chromosome analysis detected the characteristic 17p deletion, which was then confirmed via fluorescent in situ hybridization analysis. This is the second report of a patient with Smith-Magenis syndrome and West syndrome; taken together, these results suggest that Smith-Magenis syndrome may be a further cause of West syndrome.

Key Words: Smith-Magenis syndrome • West syndrome • epilepsy • chromosomal abnormality

This version was published on July 1, 2009

Journal of Child Neurology, Vol. 24, No. 7, 868-873 (2009)
DOI: 10.1177/0883073808330186


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?