Primary Mitochondrial Disorders of the Pediatric Central Nervous System: Neuroimaging Findings

被引：16

作者：

Goncalves, Fabricio Guimaraes ^{[1
]}

Alves, Cesar Augusto Pinheiro Ferreira ^{[1
]}

Heuer, Beth ^{[3
]}

Peterson, James ^{[3
]}

Viaene, Angela N. ^{[2
,6
]}

Teixeira, Sara Reis ^{[1
]}

Martin-Saavedra, Juan Sebastian ^{[1
]}

Andronikou, Savvas ^{[1
,5
]}

Goldstein, Amy ^{[3
,4
]}

Vossough, Arastoo ^{[1
,5
]}

机构：

[1] Childrens Hosp Philadelphia, Dept Radiol, Div Neuroradiol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA

[2] Childrens Hosp Philadelphia, Dept Pathol, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA

[3] Childrens Hosp Philadelphia, Dept Pediat, Div Human Genet, Mitochondria Med Frontier Program, 3401 Civ Ctr Blvd, Philadelphia, PA 19104 USA

[4] Dept Pediat, Philadelphia, PA USA

[5] Dept Radiol, Philadelphia, PA USA

[6] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

来源：

RADIOGRAPHICS | 2020年 / 40卷 / 07期

关键词：

STROKE-LIKE EPISODES; SPINAL-CORD INVOLVEMENT; KEARNS-SAYRE-SYNDROME; LACTIC-ACIDOSIS; CLINICAL-FEATURES; LEIGH-SYNDROME; MELAS SYNDROME; CEREBELLAR ATROPHY; RESPIRATORY-CHAIN; COX DEFICIENCY;

D O I：

10.1148/rg.2020200052

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Primary mitochondrial disorders (PMDs) constitute the most common cause of inborn errors of metabolism in children, and they frequently affect the central nervous system. Neuroimaging findings of PMDs are variable, ranging from unremarkable and nonspecific to florid and highly suggestive. An overview of PMDs, including a synopsis of the basic genetic concepts, main clinical symptoms, and neuropathologic features, is presented. In addition, eight of the most common PMDs that have a characteristic imaging phenotype in children are reviewed in detail.

引用

页码：2042 / 2067

页数：26

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