Characteristic fetal brain MRI abnormalities in pyruvate dehydrogenase complex deficiency enables early diagnosis and counseling

被引：0

作者：

Fortin, Olivier ^{[1
]}

Christoffel, Kelsey ^{[1
]}

Schroeder, Jason ^{[2
]}

Cilli, Kate ^{[1
]}

Shoaib, Abdullah ^{[3
]}

Venkatesan, Charu ^{[4
]}

Alves, Cesar ^{[5
]}

Ganetzky, Rebecca ^{[6
]}

Fraser, Jamie ^{[7
]}

机构：

[1] Childrens Natl Hosp, Prenatal Pediat Inst, Washington, DC USA

[2] Childrens Natl Hosp, Dept Radiol, Washington, DC USA

[3] Univ Texas Southwestern Med Ctr Dallas, Dept Pediat Neurol, Dallas, TX 75390 USA

[4] Cincinnati Childrens Hosp, Cincinnati, OH USA

[5] Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA USA

[6] Childrens Hosp Philadelphia, Dept Genet, Philadelphia, PA 19104 USA

[7] Childrens Natl Hosp, Rare Dis Inst, Washington, DC USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 04期

关键词：

D O I：

10.1016/j.ymgme.2024.108219

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Poster # 0

引用

页数：2

共 30 条

[21] Use of MRI in the diagnosis of fetal brain abnormalities in utero (MERIDIAN): a multicentre, prospective cohort study
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[22] LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency
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AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (05) : 1184 - 1189
[23] THE DIFFICULTY IN THE DIAGNOSIS OF PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY IN 6 HETEROZYGOUS FEMALES WITH NOVEL PDHA1 MUTATIONS
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[24] Improvement of pathological findings on magnetic resonance imaging of the brain with use of ketogenic diet for pyruvate dehydrogenase complex deficiency
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MOLECULAR GENETICS AND METABOLISM, 2015, 114 (03) : 356 - 356
[25] Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency
Pliss, Lioudmila
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MOLECULAR GENETICS AND METABOLISM REPORTS, 2016, 7 : 78 - 86
[26] A Case of Apert Syndrome: Early Detection of Temporal Lobe Abnormalities and Scalp Cyst in Fetal Brain MRI
Tahmasebpour, Ahmad Reza
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Kazemi, Mohammad Ali
IRANIAN JOURNAL OF PEDIATRICS, 2020, 30 (06) : 1 - 3
[27] Use of MRI in the Diagnosis of Fetal Brain Abnormalities in Utero (MERIDIAN): A Multicentre, Prospective Cohort Study EDITORIAL COMMENT
不详
OBSTETRICAL & GYNECOLOGICAL SURVEY, 2017, 72 (06) : 323 - 324
[28] CEREBRAL DYSGENESIS AND LACTIC ACIDEMIA WITH REDUCED MUSCLE PHOSPHORYLATION POTENTIAL - AN MRI/MRS-PHENOTYPE DIAGNOSTIC OF PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY
SHEVELL, MI
ARNOLD, DL
MATTHEWS, PM
BROWN, RM
BROWN, GK
SCRIVER, CR
NEUROLOGY, 1993, 43 (04) : A283 - A283
[29] Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI
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Perhomaa, Marja
Tuominen, Hannu
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Risteli, Leila
Uusimaa, Johanna
NEUROPEDIATRICS, 2017, 48 (03) : 194 - 198
[30] Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases
Poll-The, BT
Wanders, RJA
Ruiter, JPN
Ofman, R
Majoie, CBLM
Barth, PG
Duran, M
MOLECULAR GENETICS AND METABOLISM, 2004, 81 (04) : 295 - 299

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