[Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications]. / Presentación de un caso con síndrome de Alström: aspectos clínicos, moleculares y guías diagnósticas y anticipatorias.

ABSTRACT

BACKGROUND AND OBJECTIVE: Alström syndrome is a progressive autosomal recessive genetic disorder affecting multiple organ systems. It may be detected at birth or in early childhood. Clinically, patients with Alström syndrome develop cone-rod dystrophy leading to eventual blindness, sensorineural deafness, and normal intelligence. Patients develop obesity, endocrine disturbances such as type 2 diabetes mellitus, dilated cardiomyopathy and progressive renal and hepatic failure. Alström syndrome is caused by specific mutations in the ALMS1 gene, located at chromosome 2p13. PATIENTS AND METHOD: A case of a 23 year old patient with Alström syndrome, with a previous diagnosis of Laurence-Moon-Bardet-Biedl is described. RESULTS: The subsequent molecular study revealed a mutation on the ALMS1 gene, confirming the diagnosis of Alström syndrome. CONCLUSIONS: The low frequency, the progressive multi-systemic disturbances, and the similarities with other well-known syndromes may difficult the diagnosis of Alström syndrome. Thus, without a careful examination, it may be misdiagnosed and it would not be possible to perform any anticipatory therapeutic approach, with dramatic consequences for the patients and their families. Moreover, as these patients must have a multidisciplinary approach, they may not receive the adequate treatment on time. therefore, it seems important to publish this case in our country, among with the clinical and molecular characteristics of this syndrome, and to spread a diagnostic and anticipatory guidance for its early detection.