Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.
Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.
Tengan
Célia H
CH
Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, SP, Brazil (UNIFESP). chtengan@neuro.epm.br
Antunes
Antonio C
AC
Bauab
José R
JR
Baubab
José R
JR
Prado
Gilmar F
GF
Manzano
Gilberto M
GM
Gabbai
Alberto A
AA
D000328:Adult; D050030:Andersen Syndrome / Q000175:diagnosis / Q000235:genetics*; D001145:Arrhythmias, Cardiac; D004562:Electrocardiography; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017286:Polysomnography; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D020181:Sleep Apnea, Obstructive
C489461:Kir2.1 channel; D024661:Potassium Channels, Inwardly Rectifying