Brain Imaging Studies in Leber’s Congenital Amaurosis: New Radiologic Findings Associated with the Complex Trait
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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.
Abstract
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.
참고문헌 (20)
- De Laey JJ, "Leber's congenital amaurosis", Bull Soc Belge Ophtalmol, 241, pp.41~50 (1991)
- Schroeder R, "Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases", Arch Ophthalmol, 105, pp.356~359 (1987)
- Fazzi E, "Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings", Am J Med Genet A, 132A, pp.13~19 (2005)
- Lambert SR, "Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis", Am J Ophthalmol, 107, pp.624~631 (1989)
- 황준서, "한국인 레베르선천흑암시 환자의 임상양상", 대한안과학회지, 48(9), pp.1257~1262 (2007), 대한안과학회
- Casteels I, "Leber congenital amaurosis: differential diagnosis, ophthalmological and neuroradiological report of 18 patients", Neuropediatrics, 27, pp.189~193 (1996)
- Steinberg A, "Central nervous system involvement in Leber congenital amaurosis", J Pediatr Ophthalmol Strabismus, 29, pp.224~227 (1992)
- Weinstein JM, "Leber's congenital amaurosis. Relationship of structural CNS anomalies to psychomotor retardation", Arch Neurol, 41, pp.204~206 (1984)
- Reynell J, "Developmental patterns of visually handicapped children", Child Care Health Dev, 4, pp.291~303 (1978)
- Waugh MC, "Neuroimaging in children with congenital disorders of the peripheral visual system", Dev Med Child Neurol, 40, pp.812~819 (1998)
- Barkovich AJ, "Absence of the septum pellucidum: a useful sign in the diagnosis of congenital brain malformations", AJR Am J Roentgenol, 152, pp.353~360 (1989)
- Yano S, "Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies", Am J Med Genet, 78, pp.429~432 (1998)
- Morgan SA, "Absence of the septum pellucidum. Overlapping clinical syndromes", Arch Neurol, 42, pp.769~770 (1985)
- Kuhn MJ, "Absence of the septum pellucidum and related disorders", Comput Med Imaging Graph, 17, pp.137~47 (1993)
- Williams J, "Septo-optic dysplasia: the clinical insignificance of an absent septum pellucidum", Dev Med Child Neurol, 35, pp.490~501 (1993)
- Satran D, "Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome", Am J Med Genet, 86, pp.459~469 (1999)
- Gleeson JG, "Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes", Am J Med Genet A, 125A, pp.125~134 (2004)
- Chance PF, "Clinical nosologic and genetic aspects of Joubert and related syndromes", J Child Neurol, 14, pp.660~666 (1999)
- Maria BL, "Clinical features and revised diagnostic criteria in Joubert syndrome", J Child Neurol, 14, pp.583~590 (1999)
- Traboulsi EI, "Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis", Ophthalmic Genet, 27, pp.113~115 (2006)