Introduction: The cri du chat syndrome (CDCS) come from a partial or total deletion of the short arm of chromosome 5, being one of the most common deletion syndromes in human beings. The great majority of patients are diagnosed between the first month and first year of life, but herein we report a finding of a CDCS in a woman with a suspect of spinocerebellar ataxia, and a family medical record of ataxia and bipolar disorder. We pay special attention to the clinical features as well as the diagnostics tests, used to identify the CDCS.
Case report: We report a case of a 46 years-old woman showing a borderline intelligence and bilateral cataract surgery at the age of 43. Beginning of symptoms in childhood included hypoacusia, ataxia, dysarthria, dysphagia, depression, cognitive impairment and bipolar disorder. Physical examination showed microcephaly, micrognathia, talipes equinovarus and ataxia. Karyotype and array-CGH were carried out on peripheral blood. The patient showed a rearrangement involving chromosomes 5 and 15, as well as an inversion of chromosome 9: 45,XX,inv9(p11q13);t(5,15)(p15.33;q11.2). Array comparative genomic hybridization was performed showing a 2.91 Mb deletion at 5p15.33, genomic formula arr 5p15.33 (151537-3057771)x1. The deletion involved 20 genes, including TERT gene.
Conclusions: The multiple gene deletions confirmed the CDCS diagnosis, being responsible for the patient phenotype. It has been showed up the importance of using the correct diagnosis techniques (array-CGH, peripheral blood karyotype) as well as their appropriate choice.
Title: Hallazgo inesperado de sindrome cri du chat en una paciente adulta mediante array-CGH.
Introduccion. El sindrome cri du chat (SCDC) tiene su origen en una delecion parcial o total del brazo corto del cromosoma 5, y es uno de los sindromes de delecion cromosomica mas frecuentes en humanos. La mayoria de los pacientes se diagnostica entre el primer mes y el primer año de vida, si bien aqui se describe el hallazgo de un SCDC en una mujer con sospecha de ataxia espinocerebelar y antecedentes familiares de trastorno bipolar y ataxia, con especial atencion a las caracteristicas clinicas y las tecnicas diagnosticas que permitieron su identificacion. Caso clinico. Mujer de 46 años que presentaba una inteligencia limite, intervenida a los 43 años de faquectomia bilateral. El inicio de la sintomatologia fue durante la infancia, e incluia hipoacusia, ataxia, disartria, disfagia, depresion, deterioro cognitivo y trastorno bipolar. La exploracion fisica revelo microcefalia, micrognatia, pies equinos y ataxia. Se realizo cariotipo y array-CGH en sangre periferica. La paciente presentaba una traslocacion que involucraba los cromosomas 5 y 15, y una inversion del cromosoma 9: 45,XX,inv9(p11q13);t(5,15)(p15.33;q11.2). El array-CGH mostro una delecion de 2,91 Mb en 5p15.33, formula genomica arr 5p15.33 (151537-3057771)x1, que involucraba 20 genes, incluyendo el gen TERT. Conclusiones. La delecion de multiples genes confirmo el diagnostico de SCDC y es la responsable del fenotipo de la paciente. Se pone de manifiesto la importancia de utilizar tecnicas adecuadas de diagnostico (array-CGH, cariotipo en sangre periferica) y la correcta eleccion de estas.