Alström syndrome associated with cerebral involvement: An unusual presentation
European Journal of General Medicine, cilt.3, sa.1, ss.32-34, 2006 (Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 3 Sayı: 1
- Basım Tarihi: 2006
- Doi Numarası: 10.29333/ejgm/82358
- Dergi Adı: European Journal of General Medicine
- Derginin Tarandığı İndeksler: Scopus
- Sayfa Sayıları: ss.32-34
- Anahtar Kelimeler: Alström syndrome, Brain involvement, case report
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.