‘TEST-NEGATIVE ANGELMAN SYNDROME’ WITH THYROID DYSFUNCTION: A RARITY BUT A REALITY!
AbstractAngelman Syndrome (AS) is believed to be a complex neuro-developmental genetic disorder that is often described clinically by the presence of behavioural uniqueness and movement disorders; in addition to having developmental delay and speech impairment. Genetic factors have been linked to the syndrome’s aetiology in 90% of cases, although in 10% cases, an unidentified genetic mechanism accounts for the classic phenotypic features of AS. Angelman Syndrome in general or with associated thyroid dysfunction, have never been reported from Pakistan. This is the first ever case report from Pakistan reporting a rare case of clinically diagnosed AS with associated thyroid dysfunction in the presence of normal molecular genetic testing (DNA methylation test and UBE3A gene sequencing). In future, clinicians should make efforts in documenting similar cases with associated clinical profiles from our part of the world, thereby contributing to the local and regional epidemiology of these syndromes.
de Queiroz AM, de Siqueira Melara T, Fernandes Ferreira PD, Lucisano MP, De Rossi A, Nelson-Filho P, et al. Dental findings and special care in patients with Angelman syndrome: a report of three cases. Spec Care Dentist 2013;33(1):40–5.
Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003;40(2):87–95.
Van Buggenhout G, Fryns JP. Angelman syndrome (AS, MIM 105830). Eur J Hum Genet 2009;17(11):1367–73.
Bird LM. Angelman syndrome: review of clinical and molecular aspects. Appl Clin Genet 7:93–104.
Mabb AM, Judson MC, Zylka MJ, Philpot BD. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci 2011;34(6):293–303.
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A 2006;140(5):413–8.
Ranasinghe JC, Chandradasa D, Fernando S, Kodithuwakku U, Mandawala DEN, Dissanayake VHW. Angelman syndrome presenting with a rare seizure type in a patient with 15q11. 2 deletion: a case report. J Med Case Rep 9(1):142.
Williams CA. Neurological aspects of the Angelman syndrome. Brain Dev 2005;27(2):88–94.
Dagli A, Buiting K, Williams CA. Molecular and clinical aspects of Angelman syndrome. Mol Syndromol 2012;(3-5):100–12.
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms. Pediatr Drugs 2003;5(10):647–61.
Monterrubio-Ledezma CE, Bobadilla-Morales L, Pimentel-Gutierrez HJ, Corona-Rivera JR, Corona-Rivera A. Angelman syndrome and thyroid dysfunction. Genet Couns 2012;23(3):353–7.
Paprocka J, Jamroz E, Kalina M, Kalina-Faska B, Malecka-Tendera E, Marszal E. Angelman syndrome and hypothyroidism-coincidence or unique correlation? Neuro Endocrinol lett 2007;28(5):545–6.
Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? a review of Angelman like syndromes. Am J Med Genet A 2014;164A(4):975–92.
Angelman H. 'Puppet'children a report on three cases. Dev Med Child Neurol 1965;7(6):681–8.
Hart H. 'Puppet' children. A report on three cases (1965). Dev Med Child Neurol 2008;50(8):564.
Chamberlain SJ, Lalande M. Angelman syndrome, a genomic imprinting disorder of the brain. The J Neurosci 2010;30(30):9958–63.
Laan LAEM, Vein AA. Angelman syndrome: is there a characteristic EEG? Brain Dev 2005;27(2):80–7.
Williams CA, Frias JL, Opitz JM. The Angelman ("happy puppet") syndrome. Am J Med Genet 1982;11(4):453–60.
Tsai CE, Lin SP, Ito M, Takagi N, Takada S, Ferguson-Smith AC. Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo. Curr Biol 2002;12(14):1221–6.
Mane S, Chatterjee R. Angelman syndrome: The blurred lines of interpretation in cognitive defects. J Pediatr Neurosci 2015;10(1):70-2
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.