Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases

Maria Gabriela Longo; Filippo Vairo; Carolina Fischinger Souza; Roberto Giugliani; Leonardo Modesti Vedolin

doi:10.1016/j.nic.2014.09.004

Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases

Neuroimaging Clin N Am. 2015 Feb;25(1):31-51. doi: 10.1016/j.nic.2014.09.004.

Authors

Maria Gabriela Longo¹, Filippo Vairo², Carolina Fischinger Souza³, Roberto Giugliani⁴, Leonardo Modesti Vedolin⁵

Affiliations

¹ Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
² Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post Graduation Program on Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
³ Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
⁴ Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
⁵ Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post Graduation Program on Medical Sciences: Medicine, Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: lvedolin@hcpa.ufrgs.br.

PMID: 25476511
DOI: 10.1016/j.nic.2014.09.004

Abstract

In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.

Keywords: Brain imaging; Genetics; Inborn errors of metabolism; MRI; Magnetic resonance; Metabolic disorder.

Publication types

Review

MeSH terms

Brain / pathology*
Brain Diseases, Metabolic, Inborn / diagnosis*
Brain Diseases, Metabolic, Inborn / genetics*
Child
Humans
Magnetic Resonance Imaging / methods*