Abnormal movements in Rett syndrome are present before the regression period: a case study.
The suspicion of a diagnosis of Rett syndrome (RTT) is based on clinical criteria that are often not present in the first two stages of the disease, as many of its symptoms will appear at a later age. This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19-months-old girl who came to the consultation because of an arrest of psychomotor development noticed 5 months earlier without change in sleep pattern, behavior, or social communication. In the observation of 1 hour videotape, she presented subtle stereotypic movements of the face and hands as well as repetitive dystonic posturing of her limbs. A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). This case confirms that stereotypic movement anomalies, albeit infrequent and subtle, are already present before the regression stage and while maintaining prehension and that, in addition, repetitive dystonic postures may occur. Recognition of these early movement disorders will improve clinicians' ability to perform an earlier diagnosis of RTT.
Temudo
Teresa
T
Unidade de Neuropediatria, Serviço de Pediatria, Hospital Geral de Santo António, Porto, Portugal. teresatemudo@netcabo.pt
Maciel
Patricia
P
Sequeiros
Jorge
J
D005260:Female; D006801:Humans; D007223:Infant; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009069:Movement Disorders / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D015518:Rett Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D014743:Videotape Recording
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2