Abstract | INTRODUCTION: CASE PRESENTATION: 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:
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Authors | Jagath C Ranasinghe, Damitha Chandradasa, Sanjaya Fernando, Uditha Kodithuwakku, D E N Mandawala, Vajira H W Dissanayake |
Journal | Journal of medical case reports
(J Med Case Rep)
Vol. 9
Pg. 142
(Jun 16 2015)
ISSN: 1752-1947 [Electronic] England |
PMID | 26077608
(Publication Type: Case Reports, Journal Article)
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Topics |
- Angelman Syndrome
(complications, genetics)
- Chromosome Aberrations
- Chromosomes, Human, Pair 15
(genetics)
- Humans
- Infant
- Intellectual Disability
(complications, genetics)
- Male
- Seizures
(complications, genetics)
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