Andersen syndrome

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.” (Proc (Arq Neuropsiquiatr. 2006 Sep;64(3A):582-584). Authors are Tengan CH, Antunes AC, Baubab JR, et al., from the Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Brazil (UNIFESP). Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. The authors report a case of a 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. OSA accompanied by dysmorphic features may be related to AS. To access the full abstract of the article, click here.