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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.72 no.11 São Paulo Nov. 2014

http://dx.doi.org/10.1590/0004-282X20140168 

Images in Neurology

Clinodactyly and syndactyly – diagnostic clues for Andersen-Tawil syndrome

Clinodactilia e sindactilia – pistas diagnósticas da síndrome de Andersen-Tawil

Carlos Andrade1  4 

Joana Meireles1  4 

Miguel Leão2  3 

Fernando Silveira1 

1Departamento de Neurologia, Centro Hospitalar de São João, Porto, Portugal

2Unidade de Neurologia Pediátrica, Departamento de Pediatria, Centro Hospitalar de São João, Porto, Portugal

3Departamento de Genetica Médica, Centro Hospitalar de São João, Porto, Portugal

4Departamento de Neurociências Clínicas e Saúde Mental, Universidade do Porto, Porto, Portugal


A 38-year-old man was diagnosed, at the age of 18, with SCN4A-negative hyperkalaemic periodic paralysis. The diagnosis remained unchanged until his 8-year-old daughter suffered an exercise-induced syncope. Her EKG showed a polymorphic ventricular tachycardia. Patient's hands and feet, previously overlooked, became “neurologically” relevant since they were characteristic of Andersen-Tawil syndrome (Figure). A pathogenic KCNJ2 mutation (Arg218Trp) was found.

Figure (A) Fifth digit clinodactyly and (B) syndactyly of the toes 2 and 3, highly suggestive of Andersen-Tawil syndrome. The face (not shown) had only mild phenotypical characteristics. 

Andersen-Tawil syndrome is an autosomal dominant disorder characterized by the triad of periodic paralysis, ventricular arrhythmias, and dysmorphic features1. Phenotypical heterogeneity, even within a family, often delays the diagnose which is necessary since cardiac assessment is warrant2.

References

. Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994;35(3):326-30. http://dx.doi.org/10.1002/ana.410350313 [ Links ]

. Davies NP, Imbrici P, Fialho D, Herd C, Bilsland LG, Weber A, et al. Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation. Neurology. 2005;65:1083-9. [ Links ]

Received: June 14, 2014; Revised: July 31, 2014; Accepted: August 19, 2014

Correspondence: Carlos Jorge da Silva Andrade; Departamento de Neurologia, Centro Hospitalar de São João; Alameda Prof. Hernâni Monteiro, 4200 / 319 Porto, Portugal; E-mail: carlos.hsjn@gmail.com

Conflict of interest: There is no conflict of interest to declare.

Creative Commons License This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.