Smith-Magenis syndrome with west syndrome in a 5-year-old girl: A long-term follow-up study

Journal of Child Neurology

Volumn 24, Issue 7, 2009, Pages 868-873

  Hino Fukuyo, Naomi ^a   Haginoya, Kazuhiro ^a,b   Uematsu, Mitsugu ^a   Nakayama, Tojo ^a   Kikuchi, Atsuo ^a   Kure, Shigeo ^a   Kamada, Fumiaki ^a   Abe, Yu ^a   Arai, Natsuko ^a   Togashi, Noriko ^c   Onuma, Akira ^b   Tsuchiya, Shigeru ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Takuto Rehabilitation Center for Children   (Japan)

^c Hospital Home for Children and Persons with Severe Motor and Intellectual Disabilities   (Japan)

Author keywords

Chromosomal abnormality; Epilepsy; Smith Magenis syndrome; West syndrome

Indexed keywords

CLOBAZAM; CORTICOTROPIN; NITRAZEPAM; PHENOBARBITAL; VALPROIC ACID; ZONISAMIDE;

ARTICLE; ATONIC SEIZURE; BRAIN DAMAGE; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; CLONIC SEIZURE; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOCAL EPILEPSY; FOLLOW UP; GRAND MAL SEIZURE; HUMAN; HYPSARRHYTHMIA; LANGUAGE DISABILITY; LATERAL BRAIN VENTRICLE; LONG TERM CARE; MENTAL DEFICIENCY; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; MUSCLE SPASM; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME; TONIC SEIZURE; WEST SYNDROME; ERRATUM; ERROR;

ABNORMALITIES, MULTIPLE; ADRENOCORTICOTROPIC HORMONE; BRAIN; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; ELECTROENCEPHALOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HORMONES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; SEQUENCE ANALYSIS, DNA; SPASMS, INFANTILE; SYNDROME;

EID: 67949085197     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808330186     Document Type: Article

References (14)

1. Greenberg F., Lewis RA, Potocki L., et al. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am J Med Genet. 1996;62:247-254.
2. Smith AC, McGavran L., Robinson J., et al. Interstitial deletion of (17) (p11.2p11.2) in nine patients. Am J Med Genet. 1986;24:393-414.
3. Seranski P., Hoff C., Radelof U., et al. RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients. Gene. 2001;270:69-76.
4. Slager RE, Newton TL, Vlangos CN, Finucane B., Elsea SE Mutation in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003;33:466-468.
5. Potocki L., Glaze D., Tan DX, et al. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J Med Genet. 2000;37:428-433.
6. Leersnyder H., Blois MC, Claustrat B., et al. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J Pediatr. 2001;139:111-116.
7. Potocki L., Shaw CJ, Staniewicz P., Lupski JR Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003;5:430-434.
8. Greemberg F., Guzzetta V., Montes de Oca-Luna R., et al. Molecular analysis of the Smith-Magenis syndrome: A possible contiguous gene syndrome associated with del (17)(p11.2). Am J Hum Genet. 1991;49:1207-1218.
9. Gropman AL, Elsea S., Duncan WC, Smith AC New developments in Smith-Magenis syndrome (del 17p11.2). Curr Opin Neurol. 2007;20:125-134.
10. Goldma AM, Potocki L., Walz K., et al. Epilepsy and chromosomal rearrangements in Smith-Magenis syndrome (del(17)(p11.2p11.2). J Child Neurol. 2006;21:93-98.
11. Gropman AL, Smith AC, Greenberg F. Neurologic aspects of the Smith-Magenis syndrome. Ann Neurol. 1998;44:561.
12. Roccella M., Parisi L. The Smith-Magenis syndrome: A new case with infant spasms. Minerva Pediatr. 1999;51:65-71.
13. Vlangos CN, Wilson M., Blancato J., Smith AC, Elsea SH Diagnostic FISH probes for del (17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. Am J Med Genet. 2005;132:278-282.
14. Vlangos CN, Yim DK, Elsea SH Refinement of the Smith-Magenis syndrome cirtical region to approximately 950 kb and assessment of 17p11.2 deletions. Are all deletions created equally? Mol Genet Metab. 2003;79:134-141.