Angelman syndrome and hypothyroidism - coincidence or unique correlation?
Angelman Syndrome (AS, MIM 105830), classified among neurogenetic disorders, occurs with estimated frequency of 1:10 000 to 1:40 000. The characteristics features apart from neurodevelopmental impairment and seizures include peculiar face traits, absent speech, outburst of laughter, ataxia, stereotyped jerky (puppet-like) movements. The authors report three children with Angelman syndrome who were also diagnosed with hypothyroidism.
Paprocka
Justyna
J
Department of Child Neurology, Silesian Medical University, Katowice, Poland. jstyna.paprocka@interia.pl.
Jamroz
Ewa
E
Kalina
Maria
M
Kalina-Faska
Barbara
B
Malecka-Tendera
Ewa
E
Marszal
Elzbieta
E
D000293:Adolescent; D017204:Angelman Syndrome / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D006801:Humans; D007037:Hypothyroidism / Q000097:blood / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D018828:Immunoglobulins, Thyroid-Stimulating / Q000097:blood; D017384:Sequence Deletion; D013974:Thyroxine / Q000627:therapeutic use
D018828:Immunoglobulins, Thyroid-Stimulating; D013974:Thyroxine