Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\25177395.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 J+Ultrasound 2014 ; 17 (3): 215-7 Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Brain ultrasound in Canavan disease #MMPMID25177395
Drera B; Poggiani C
J Ultrasound 2014[Sep]; 17 (3): 215-7 PMID25177395show ga
Canavan disease (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3?5 months of life, macrocephaly and poor head control, weak cry and suck, development regression and hypotonia. Here, we report cranial ultrasound findings at birth and at 4 months of age in a patient affected with Canavan disease. The comparison of our sonographic data with few other cases in literature allows us to suggest a characteristic pattern in Canavan disease.