angelman syndrome: a case report

how to cite this article: ashrafzadeh f, sadrnabavi a, akhondian j, beiraghi toosi m, mohammadi mh, hassanpour k. angelman syndrome: a case report. iran j child neurol. spring 2016; 10(2):86-89. abstract objective angelman syndrome (as) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. it occurs due to an expression deletion in 15q11-q13 chromosome. in this article, we present an eight yr boy referred to pediatrics neurologic clinic mashhad, iran for speech delay. he had abnormal behavior ataxia unusual laughing facial expression intellectual disability and mandibular prognathism. metabolic screening tests and brain mri were normal. genetic analysis was pathognomonic for as.   references jolleff n, ryan mm. communication development in angelman's syndrome. arch dis child. 1993 jul;69(1):148-50. landsman is, mitzel hm, peters su, bichell tj. are children with angelman syndrome at high risk for anesthetic complications? paediatr anaesth. 2012 mar;22(3):263-7. doi: 10.1111/j.1460-9592.2011.03661.x. epub 2011 aug 1. bai jl, qu yj, zou lp, yang xy, liu lj, song f. a novel missense mutation of the ubiquitin protein ligase e3a gene in a patient with angelman syndrome. chin med j (engl). 2011 jan;124(1):84-8. cobben jm, van hal a, van den puttelaar-van hal n, van dijk fs. [a girl with angelman syndrome]. ned tijdschr geneeskd. 2014;158(0):a8092. [article in dutch] fiumara a1, pittalà a, cocuzza m, sorge g. epilepsy in patients with angelman syndrome. ital j pediatr. 2010 apr 16;36:31. doi: 10.1186/1824-7288-36-31. giroud m, daubail b, khayat n, chouchane m, berger e, muzard e.angelman syndrome: a case series assessing neurological issues in adulthood. eur neurol. 2014 nov 29;73(1-2):119-125. [epub ahead of print] larson am, shinnick je, shaaya ea, thiele ea, thibert rl. angelman syndrome in adulthood. am j med genet a. 2014 nov 26. doi: 10.1002/ajmg.a.36864. [epub ahead of print] lewis mw, brant jo, kramer jm, moss ji, yang tp, hansen p. angelman syndrome imprinting center encodes a transcriptional promoter. proc natl acad sci u s a. 2014 nov 5. pii: 201411261. [epub ahead of print] mertz lg, christensen r, vogel i, hertz jm, nielsen kb, grønskov k. angelman syndrome in denmark. birth incidence, genetic findings, and age at diagnosis. am j med genet a. 2013 sep;161a(9):2197-203. doi: 10.1002/ajmg.a.36058. epub 2013 aug 2. veiga mf, toralles mb. [neurological manifestation and genetic diagnosis of angelman, rett and fragile-x syndromes]. j pediatr (rio j). 2002 jul;78 suppl 1:s55-62. [article in portuguese] clayton-smith j, laan l. angelman syndrome: a review of the clinical and genetic aspects. j med genet 2003;40: 87–95. thibert rl, conant kd, braun ek, bruno p, said rr, nespeca mp, thiele ea. epilepsy in angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. epilepsia. 2009 nov;50(11):2369-76. doi: 10.1111/j.1528-1167.2009.02108.x. epub 2009 may 12. buiting k, saitoh s, gross s, dittrich b, schwartz s, nicholls rd, horsthemke b. inherited microdeletions in the angelman and prader-willi syndromes define an imprinting centre on human chromosome 15. nat genet. 1995 apr;9(4):395-400. luedi pp, dietrich fs, weidman jr, bosko jm, jirtle rl, hartemink a. computational and experimental identification of novel human imprinted genes. genome res 2007;17:1723-1730.