[Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications].
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.


METHODS
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.
Mendioroz
Jacobo
J
ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, Spain.
Bermejo
Eva
E
Marshall
Jan D
JD
Naggert
Jürgen K
JK
Collin
Gayle B
GB
Martínez-Frías
María Luisa
ML
D018797:Cell Cycle Proteins; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000150:complications* / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics*; D006801:Humans; D017093:Liver Failure / Q000150:complications* / Q000235:genetics*; D008297:Male; D009765:Obesity / Q000150:complications* / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D011506:Proteins / Q000235:genetics*; D051437:Renal Insufficiency / Q000150:complications* / Q000235:genetics*; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D012162:Retinal Degeneration / Q000150:complications* / Q000235:genetics*; D017948:Retinal Rod Photoreceptor Cells / Q000473:pathology*; D013577:Syndrome; D055815:Young Adult
C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins