Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome

Pediatr Neurol. 2017 Oct:75:101-102. doi: 10.1016/j.pediatrneurol.2017.05.002. Epub 2017 May 8.

Authors

Cristel C Chapel-Crespo¹, Sajel Lala¹, Pankaj Prasun²

Affiliations

¹ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
² Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: Pankaj.Prasun@mssm.edu.

PMID: 28784285
DOI: 10.1016/j.pediatrneurol.2017.05.002

No abstract available

MeSH terms

Brain / abnormalities
Brain / diagnostic imaging*
Down Syndrome / complications
Down Syndrome / diagnostic imaging*
Female
Humans
Infant
Magnetic Resonance Imaging
Pyruvate Dehydrogenase Complex Deficiency Disease / complications
Pyruvate Dehydrogenase Complex Deficiency Disease / diagnostic imaging*