Clinical and Experimental Pediatrics

Case Report

A Case of Glutaric Aciduria Type I with Macrocephaly

Woo Jong Shin, Yeo Ok Moon, Hye Ran Yoon, Eun Sil Dong, Young Min Ahn

Clin Exp Pediatr. 2003;46(3):295-301. Published online March 15, 2003

Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine...

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A Case of Acute Necrotizing Encephalopathy

Sung Kee Kim, Se Wook Oh, Young Kyoun Kim, Se Chang Ham, Yong Won Park, Sang Woo Kim

Clin Exp Pediatr. 2001;44(8):954-958. Published online August 15, 2001

This disease predominantly affects infants and young children living in Japan and Taiwan, and manifests itself as acute encephalopathy following viral infections. The hallmark of this encephalopathy is multifocal, symmetric brain lesions affecting bilateral thalamus, brainstem tegmentum, cerebral periventricular white matter and cerebellar medulla, which can be visualized by computed tomography and magnetic resonance imaging. Both the gray and white...

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Two Cases of Acute Encephalopathy with Symmetrical Low Density Areas in Bilateral Thalami in Siblings

Soon Young Lee, Woo Jin Lee, Ji Eun Lee, So Yeon Kim, Jong Ho Lee, Seung Jae Lee

Clin Exp Pediatr. 1998;41(5):701-706. Published online May 15, 1998

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