title: Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: a case report.
abstract: BACKGROUND
  Angelman syndrome, a neurodevelopmental genetic disorder associated with abnormalities in chromosome15q11-q13, is inherited from the mother. Epilepsy is seen in 85 % of children with Angelman syndrome within the first 3 years of life and is often severe and difficult to control.
  
  
  METHODS
  We report a case of a baby boy who presented at 13 months of age with a history of acute gastroenteritis and marked gross motor and speech developmental delay. He was found to have a microdeletion of the chromosome 15q11.2 region confirming the diagnosis of Angelman syndrome. He was the first child born to healthy, unrelated Sinhalese parents. The child had generalized extensor spasms involving both upper limbs and the head beginning at the age of 9 months, and he developed flexor and extensor spasms at the age of 13 months. His facial appearance was characteristic of Angelman syndrome. His electroencephalographic pattern did not correspond to any other of the patterns previously described in patients with Angelman syndrome. He had extensor and flexor spasms, which are rarely described in patients with Angelman syndrome. These symptoms responded to a combination of valproic acid and clonazepam.
  
  
  CONCLUSIONS
  Angelman syndrome due to a microdeletion of the chromosome 15q11.2 region is often not diagnosed in infancy. Extensor and flexor spasms are not typically described seizure types in Angelman syndrome, and our patient's seizures responded well to a combination of valproic acid and clonazepam. Clinicians should suspect other possible seizure types in patients with Angelman syndrome and should treat the patient appropriately.
authors.affiliation: Anuradhapura Teaching Hospital, Anuradhapura, Sri Lanka. c.ranasinghe0323@gmail.com.
authors.forename: Jagath C
authors.initials: JC
authors.lastname: Ranasinghe
authors.affiliation: Anuradhapura Teaching Hospital, Anuradhapura, Sri Lanka. kkmdchandradasa@yahoo.com.
authors.forename: Damitha
authors.initials: D
authors.lastname: Chandradasa
authors.affiliation: Anuradhapura Teaching Hospital, Anuradhapura, Sri Lanka. 2008sanjaya@gmail.com.
authors.forename: Sanjaya
authors.initials: S
authors.lastname: Fernando
authors.affiliation: Anuradhapura Teaching Hospital, Anuradhapura, Sri Lanka. udithakod@yahoo.com.
authors.forename: Uditha
authors.initials: U
authors.lastname: Kodithuwakku
authors.affiliation: Asiri Center for Genomic and Regenerative Medicine, University of Colombo, Colombo, Sri Lanka. acgrm@asiri.lk.
authors.forename: D E N
authors.initials: DE
authors.lastname: Mandawala
authors.affiliation: Asiri Center for Genomic and Regenerative Medicine, University of Colombo, Colombo, Sri Lanka. vajirahwd@hotmail.com.|Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. vajirahwd@hotmail.com.
authors.forename: Vajira H W
authors.initials: VH
authors.lastname: Dissanayake
mesh_terms: D017204:Angelman Syndrome / Q000150:complications* / Q000235:genetics*; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D008297:Male; D012640:Seizures / Q000150:complications* / Q000235:genetics*