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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 360 - 363 (4page)
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초록· 키워드
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Purpose: To report the incidence and new findings of abnormal brain imaging studies associated with patients initially diagnosed with Leber’s congenital amaurosis (LCA) without definite systemic abnormalities and to determine the need for brain imaging studies in these patients.
Methods: A retrospective review of medical records was performed in 83 patients initially diagnosed as LCA and without definite systemic abnormalities before the age of 6 months in 2 tertiary referral centers. Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%).
Results: Six of 31 patients (19%) had radiologically documented brain abnormalities. Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus,and 1 patient was found to have a small cerebellum.
Conclusions: Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature. Brain imaging is mandatory in patients primarily diagnosed with LCA, even without definite neurologic or systemic abnormalities.
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
Barkovich AJ / 1989 / Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations / AJR Am J Roentgenol 152 : 353 ~ 360
Casteels I / 1996 / Leber congenital amaurosis: differential diagnosis, ophthalmological and neuroradiological report of 18 patients / Neuropediatrics 27 : 189 ~ 193
Chance PF / 1999 / Clinical nosologic and genetic aspects of Joubert and related syndromes / J Child Neurol 14 : 660 ~ 666
De Laey JJ / 1991 / Leber's congenital amaurosis / Bull Soc Belge Ophtalmol 241 : 41 ~ 50
Fazzi E / 2005 / Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings / Am J Med Genet A 132A : 13 ~ 19
Casteels I / 1996 / Leber congenital amaurosis: differential diagnosis, ophthalmological and neuroradiological report of 18 patients / Neuropediatrics 27 : 189 ~ 193
Chance PF / 1999 / Clinical nosologic and genetic aspects of Joubert and related syndromes / J Child Neurol 14 : 660 ~ 666
De Laey JJ / 1991 / Leber's congenital amaurosis / Bull Soc Belge Ophtalmol 241 : 41 ~ 50
Fazzi E / 2005 / Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings / Am J Med Genet A 132A : 13 ~ 19
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