Resumen de Síndrome de Alström Hallgren

Diego Puertas Bordallo, Begoña de Domingo Baron, M. Lozano Vázquez, Carmelo Escudero Díez, M.L. Ruiz-Falcó Rojas, J. Fernández Fernández

• español

  Introducción: El Síndrome de Alström es una enfermedad autosómica recesiva. Se conoce un gen (ALMS1) asociado al síndrome, caracterizado por ceguera causada por distrofia de conos y bastones, sordera sensorial, resistencia a la insulina, obesidad, y cardiopatías. Caso clínico: Niño de cuatro años que tras una parada cardiorrespiratoria es diagnosticado de cardiomiopatía dilatada. Comienza con nistagmus y fotofobia. Se le realiza exploración oftalmológica y ERG, siendo los resultados compatibles con un Síndrome de Alström. Discusión: El diagnóstico en estos casos es clínico. El diagnóstico de certeza con técnicas moleculares es posible en un 25-40% de casos. El tratamiento es sintomático.

• English

  Introduction: Alstrom-Hallgren syndrome is an inherited condition in which the transmission of a double dose of a mutated gene leads to specific clinical findings. To the present time there has been only one gene detected which leads to this syndrome, the ALMS1 gene. Mutation of this gene leads to progressive blindness due to photoreceptor dystrophy, progressive sensorineural hearing loss, insulin resistant diabetes, morbid obesity and cardiologic abnormalities. Clinical Case: We present the case of a four-year-old male who, after a cardiopulmonary shutdown in the fourth month of life, was diagnosed with a dilated cardiomyopathy. Nystagmus and photophobia followed, and, after ophthalmologic exploration and an electroretinogram, the results were consistent with Alström syndrome. The appropriate genetic studies were then performed. Discussion: The diagnosis in this case was considered basically because of its uncommon clinical features, and the fact a multidisciplinary approach was used in its evaluation. We were only able to confirm the diagnosis by molecular biology techniques, with this resulting in the correct diagnosis in 25-40% of cases. Treatment is symptomatic and the prognosis extremely variable.