Tengan Célia H, Antunes Antonio C, Bauab José R, Prado Gilmar F, Manzano Gilberto M, Gabbai Alberto A
Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, SP, Brazil (UNIFESP).
Arq Neuropsiquiatr. 2006 Sep;64(3A):582-4. doi: 10.1590/s0004-282x2006000400009.
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.
安德森综合征（AS）是一种罕见疾病，其特征为周期性瘫痪（PP）、心律失常和畸形异常。我们在此报告首例患有AS的巴西患者，该患者还伴有肥胖、阻塞性睡眠呼吸暂停（OSA）和日间嗜睡。对六名家庭成员进行的临床和基因评估表明，四人有畸形异常，但均无PP或心律失常。对KCNJ2进行测序发现，索引患者及其6岁女儿存在R218W突变，她们有畸形异常（小颌畸形、第四和第五指屈曲畸形、身材矮小）和OSA。三名亲属仅有手指屈曲畸形这一表现，但不存在R218W突变，这表明该特征可能受另一个基因影响。伴有畸形特征的OSA可能与AS有关。
