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ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION
- Source :
- Volume: 3, Issue: 1, European Journal of General Medicine
- Publication Year :
- 2006
-
Abstract
- Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and non-insulin dependent diabetes mellitus. A 6-year-old girl was admitted with aphasia, deafness, strabismus, abdominal distention, and weakness on the right body side. The physical and laboratory examination revealed psychomotor retardation, right hemiparesis, sensorioneural hearing loss, aphasia, eye and teeth abnormalities, hyperpigmentation, truncal obesity, hepatosplenomegaly, severe iron deficiency anemia, delayed bone age, and cerebral hemiatrophy. Based on these abnormal findings she was diagnosed as AS. According to our knowledge this is the first case of AS with cerebral involvement. This last finding may be a component of the syndrome. Key words: Alström syndrome; brain involvement, case report
- Subjects :
- medicine.medical_specialty
Pediatrics
An unusual presentation-, European Journal of General Medicine, cilt.3, ss.32-34, 2006 [Yilmaz C., Çaksen H., Yilmaz N., Güven A. S. , Arslan D., Cesur Y., -Alström syndrome associated with cerebral involvement]
Psychomotor retardation
Hearing loss
business.industry
Hepatosplenomegaly
Bone age
General Medicine
medicine.disease
Surgery
Aphasia
medicine
Alström syndrome,brain involvement,case report
medicine.symptom
Truncal obesity
business
Progressive hearing impairment
Alström syndrome
Subjects
Details
- ISSN :
- 13043889 and 13043897
- Database :
- OpenAIRE
- Journal :
- Volume: 3, Issue: 1, European Journal of General Medicine
- Accession number :
- edsair.doi.dedup.....90a217bd1bcd505a04d403daa108b9d6