Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities / Síndrome de Andersen: uma associação de paralisia periódica com arritmia cardíaca e alterações dismórficas
Arq. neuropsiquiatr
; 64(3a): 582-584, set. 2006. ilus
Article
in English, Portuguese
| LILACS
| ID: lil-435590
Responsible library:
BR1.1
ABSTRACT
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.
RESUMO
A síndrome de Andersen (SA) é doença rara caracterizada pela presença de paralisia periódica (PP), arritmia cardíaca e anormalidades dismórficas. Relatamos o primeiro paciente brasileiro apresentando SA, e que também apresenta obesidade e apnéia obstrutiva do sono (AOS). Avaliações clínica e genética de seis familiares demonstraram que quatro apresentavam alterações dismórficas mas nenhum tinha PP ou arritmia cardíaca. O sequenciamento do gene KCNJ2 revelou a mutação R218W no paciente índex e sua filha de 6 anos, que apresentava alterações dismórficas (micrognatia, clinodactilia do quarto e quinto dedos, baixa estatura) e AOS. Três familiares tinham clinodactilia como única manifestação mas a mutação R218W estava ausente, sugerindo que esta característica seja influenciada por outro gene. A AOS associada a alterações dismórficas pode estar relacionada à SA.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Sleep Apnea, Obstructive
/
Potassium Channels, Inwardly Rectifying
/
Andersen Syndrome
/
Mutation
Type of study:
Diagnostic study
/
Risk factors
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
English
/
Portuguese
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
2006
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal de São Paulo/BR