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

Brain and Development

Volumn 33, Issue 5, 2011, Pages 437-441

  Saito, Yoshiaki ^a   Kubota, Masaya ^b   Kurosawa, Kenji ^c   Ichihashi, Izumi ^d   Kaneko, Yuu ^a   Hattori, Ayako ^a   Komaki, Hirofumi ^a   Nakagawa, Eiji ^a   Sugai, Kenji ^a   Sasaki, Masayuki ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d Takatsu Central Hospital   (Japan)

Author keywords

Bilateral perisylvian polymicrogyria; Microdeletion; West syndrome

Indexed keywords

CARBAMAZEPINE; CORTICOTROPIN; PHENOBARBITAL; VALPROIC ACID; ZONISAMIDE;

1P36 DELETION SYNDROME; ARTICLE; BILATERAL PERISYLVIAN POLYMICROGYRIA; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CLINODACTYLY; DIAGNOSTIC IMAGING; ELECTROENCEPHALOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; MALE; MICROGYRIA; PRESCHOOL CHILD; SEIZURE; SKIN HEMANGIOMA; TONIC SEIZURE; TREATMENT OUTCOME;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; ELECTROENCEPHALOGRAPHY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; SPASMS, INFANTILE;

EID: 79954625504     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.07.004     Document Type: Article

References (9)

1. Battaglia A., Hoyme H.E., Dallapiccola B., Zackai E., Hudgins L., McDonald-McGinn D., et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 2008, 121:404-410.
2. Gajecka M., Mackay K.L., Shaffer L.G. Monosomy 1p36 deletion syndrome. Am J Med Genet C 2007, 145C:346-356.
3. Bahi-Buisson N., Guttierrez-Delicado E., Soufflet C., Rio M., Daire V.C., Lacombe D., et al. Spectrum of epilepsy in terminal 1p36 deletion syndrome. Epilepsia 2008, 49:509-515.
4. Dobyns W.B., Mirzaa G., Christian S.L., Petras K., Roseberry J., Clark G.D., et al. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4p21.21-q22.1, 6q26-q27 and 21q2. Am J Med Genet A 2008, 146A:1637-1654.
5. Saito S., Kawamura R., Kosho T., Shimizu T., Aoyama K., Koike K., et al. Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion f 1p36. Am J Med Genet A 2008, 146A:2891-2897.
6. Campeau P.M., Mew N.A., Cartier L., Mackay K.L., Shaffer L.G., Der Kaloustian V.M., et al. Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. Am J Med Genet A 2008, 146A:3062-3069.
7. Riveiro M., do C., Gama de Sousa S., Freitas M.M., Carrilho I., Fernandes I. Bilateral perisylvian polymicrogyria and chromosome 1 anomaly. Pediatr Neurol 2007, 36:418-420.
8. Yamamoto K., Yoshihashi H., Furuya N., Adachi M., Ito S., Tanaka Y., et al. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature. Cong Anom 2009, 49:8-14.
9. Kurosawa K., Kawane H., Okamoto N., Ochiai Y., Akatsuka A., Kobayashi M., et al. Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. Brain Dev 2005, 27:378-382.