| Título: | Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia |
| Autores: |
BARZEGAR, Mohammad; Professor of pediatric Neurology,
Pediatric Health Research Center,
Tabriz University of Medical Sciences,
Tabriz, Iran SAYADNASIRI, Mohammad; Assistant professor of Neurology, Department of Neurology, Qazvin University of Medical Sciences, Qazvin, Iran TABRIZI, Aidin; Pediarician, Pediatric Health Research Center, Tabriz University of Medical Sciences,Tabriz, Iran |
| Fecha: | 2012-09-17 |
| Publicador: | Iranian Journal of Child Neurology |
| Fuente: |
 |
| Tipo: |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Case reports |
| Tema: | Oculodentodigitalis dysplasia; Epilepsy; Spasticity |
| Descripción: | How to Cite this Article: Barzegar M, Sayadnasiri M, Tabrizi A. Epilepsy as a Rare Neurologic Manifestation of Oculodentodigitalis Dysplasia. Iran J Child Neurol 2012; 6(3): 39-43.Oculodentodigitalis dysplasia (ODDD) is an extremely rare inherited disorderinvolving the development of the face, eyes, teeth and limbs. In addition,some patients develop neurological problems mostly a spastic paraparesisassociated with white matter abnormalities on magnetic resonance imaging.This report describes a patient with epilepsy, a rare neurologic manifestationof this syndrome.ReferencesJudisch GF, Martin-Casals A, Hanson JW, Olin WH.Oculodentodigital dysplasia. Four new reports and aliterature review. Arch Ophthalmol 1979 May;97(5):878-84.Paznekas WA, Boyadjiev SA, Shapiro RE, DanielsO, Wollnik B, Keegan CE, et al. Connexin 43(GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003 Feb;72(2):408-18.Parashari UC, Khanduri S, Bhadury S, Qayyum FA.Radiographic diagnosis of a rare case of oculodentodigital dysplasia. SA J Radiology 2011:134-6.van Es RJ, Wittebol-Post D, Beemer FA. Oculodentodigital dysplasia with mandibular retrognathism and absenceof syndactyly:a case report with a novel mutation in the connexin 43 gene. Int J Oral Maxillofac Surg 2007 Sep;36(9):858-60.Aminabadi NA, Ganji AT, Vafaei A, Pourkazemi M,Oskouei SG. Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and asibling. J Clin Pediatr Dent 2009 Summer;33(4):337-41.Loddenkemper T, Grote K, Evers S, Oelerich M, StogbauerF. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002 May;249(5):584-95.Opjordsmoen S, Nyberg-Hansen R. Hereditary spasticparaplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980 Jan;61(1):35-41.Farmer TW, Wingfield MS, Lynch SA, Vogel FS, HuletteC, Katchinoff B, et al. Ataxia, chorea, seizures, and dementia. Pathologic features of a newly defined familial disorder. Arch Neurol 1989 Jul;46(7):774-79.Gorlin RJ, Meskin LH, St Geme JW. Oculodentodigital dysplasia. J Pediatr 1963 Jul;63:69-75.Orphanet report Series.Prevalence of rare disease:Bibliographic data-November 2011-Number 1.http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalenceof rare disease by alphabetical list.pdf. 1st November2011.Jones C, Baldrighi C, Mills J, Bush P, Ezaki M, OishiS. Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders. J Hand Surg Am. 2011 Nov;36(11):1816-21.Gutmann DH, Zackai EH, Mc Donald-McGinn DM,Fischbeck KH, Kamholz J. Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.Am J Med Genet 1991 Oct;41(1):18-20.Schrander-Stumpel CT, Franke CL. Central nervous system abnormalities in oculodentodigital dysplasia.Genet Couns 1996;7(3):233-5.14. Ginsberg LE, Jewett T, Grub R, Mclean WT.Oculodental digital dysplasia: neuroimaging in a kindred. Neuroradiology 1996 Jan;38(1):84-6.15. Amador C, Mathews AM, Del Carmen, Montoya M,Laughridge ME, Everman DB, Holden KR .Expanding the neurologic phenotype of oculodentodigital dysplasiain a 4-generation Hispanic family. J Child Neurol 2008 Aug;23(8):901-5. |
| Idioma: | Inglés |
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