Síndrome de Alström Hallgren

  1. D. Puertas-Bordallo
  2. B. De-Domingo-Barón
  3. M. Lozano-Vázquez
  4. C. Escudero-Díaz
  5. M.L. Ruiz-Falcó Rojas
  6. J. Fernández-Fernández
Journal:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Year of publication: 2007

Volume: 82

Issue: 10

Pages: 649-652

Type: Article

DOI: 10.4321/S0365-66912007001000011 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Archivos de la Sociedad Española de Oftalmologia

Abstract

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.

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