Síndrome de Alström Hallgren / Alström Hallgreen syndrome
Arch. Soc. Esp. Oftalmol
; 82(10): 649-652, oct. 2007. ilus, tab
Article
in Es
| IBECS
| ID: ibc-056455
Responsible library:
ES1.1
Localization: ES1.1 - BNCS
RESUMEN
IIntroducción:
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 sintomáticoABSTRACT
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-yearold 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
Full text:
Available
Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Cardiomyopathy, Dilated
/
Optic Nerve Diseases
/
Nystagmus, Pathologic
/
Photophobia
Type of study:
Prognostic study
Limits:
Child, preschool
/
Humans
/
Male
Language:
Spanish
Journal:
Arch. Soc. Esp. Oftalmol
Year:
2007
Document type:
Article
Institution/Affiliation country:
Hospital Infantil Universitario Niño Jesús de Madrid/España