Aicardi Syndrome: Chorioretinal Lacunae Without Corpus Callosum Agenesis

Retina ◽  
2006 ◽  
Vol 26 (8) ◽  
pp. 977-978 ◽  
Author(s):  
DIANA ITURRALDE ◽  
CATHERINE B. MEYERLE ◽  
LAWRENCE A. YANNUZZI
2019 ◽  
Author(s):  
Vera Raile ◽  
Nina Herz ◽  
Gabriel Promnitz ◽  
Joanna Schneider ◽  
Angela Maria Kaindl

PEDIATRICS ◽  
1985 ◽  
Vol 76 (3) ◽  
pp. 450-453
Author(s):  
William H. Constad ◽  
Rudolph S. Wagner ◽  
Anthony R. Caputo

The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an χ-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an χ-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these children die at an early age, are clearly illustrated in this report.


2019 ◽  
Vol 34 (6) ◽  
pp. 1075-1075
Author(s):  
G Andrews ◽  
K Eddy ◽  
A Gibson

Abstract Objective Corpus callosum agenesis (ACC) is a congenital birth defect in which the corpus callosum fails to fully form (Badaruddin, et al., 2007). The partial or complete absence of a corpus callosum affects specific functioning (Brown, Jeeves, Dietrich, & Burnison, 1999) resulting in behavioral, social, and cognitive difficulties (Badaruddin, et al., 2007). We evaluated the development of infants and toddlers with ACC in cognition, language, and motor functioning. Methods Boys (n = 6) and girls (n = 4) ages 3 to 41 months were assessed utilizing the Bayley Scales of Infant and Toddler Development-Third Edition, a test designed to assess the developmental functioning in 5 domains: motor, social-emotional, adaptive behavior, cognitive, and language (Bayley, 2006). Volunteers were assessed during ACC conferences. Results Cognitive, language and motor index scores were significantly correlated but not age. Moderate to large effect sizes (Cohens d) were found. Girls had lower Cognitive Index scores and were below average; boys mean score was within the average range. Large effect sizes for receptive and expressive language. Boys scored within the low average range; girls below average for receptive language. For expressive language, girls fell in the borderline range, boys were low average. Gross motor was very low compared to age norms. Girls showed deficits in fine motor skill development; boys within the average range. Conclusions Global developmental deficits and gender differences occurred for infants and toddlers with ACC. Girls show more delays than boys. Outcomes suggest that delays can be measured well before entering school and supports early intervention services.


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