Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities

Arquivos de Neuro-Psiquiatria

Célia H. Tengan²  Antonio C. Antunes²  José R. Bauab²  Gilmar F. Prado¹  Gilberto M. Manzano²  Alberto A. Gabbai² 

[1] ,Universidade Federal de São Paulo Department of Neurology and Neurosurgery Division of Neurology SP ,Brazil

关键词: periodic paralysis;    cardiac arrhythmia;    dysmorphism;    obstructive sleep apnea;    paralisia periódica;    arritmia cardíaca;    dismorfismo;    apnéia obstrutiva do sono;   

DOI  :  10.1590/S0004-282X2006000400009

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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