epilepsy as a rare neurologic manifestation of oculodentodigitalis dysplasia

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. references judisch 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.