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Canavan disease

*Gene map locus 17pter-p13
Aminoacylase 2 deficiency
Aspartoacylase deficiency
Canavan-Van Bogaert-Bertrand disease
Spongy degeneration of central nervous system
[Clinical features: atonia of neck muscles; hypotonia; hyperextension of legs and flexion of arms; blindness; severe mental defect; megalocephaly; death by 18 months on the average]
[Inheritance: autosomal recessive]

Canavan disease in a 6-month-old boy with macrocephaly
Canavan disease in a 6-month-old boy with macrocephaly
Canavan disease in a 6-month-old boy with macrocephaly
RadioGraphics
RadioGraphics
RadioGraphics

Canavan Disease
Canavan Disease
Canavan Disease
Radiology
Radiology
Radiology

Canavan Disease
Images in a 17-month-old child with Canavan disease
Images in a 17-month-old child with Canavan disease
Radiology
Radiology
Radiology

 
Images in a 17-month-old child with Canavan disease
Images in a 17-month-old child with Canavan disease
 
Radiology
Radiology
 


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Edited by Aldo Campana, April 16, 2014