Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.
Journal
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
ISSN: 1532-2130
Titre abrégé: Eur J Paediatr Neurol
Pays: England
ID NLM: 9715169
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
09
09
2020
revised:
12
01
2021
accepted:
17
01
2021
pubmed:
17
2
2021
medline:
16
6
2021
entrez:
16
2
2021
Statut:
ppublish
Résumé
We report a 5-year-old male with a PDHA1 variant who presented with alternating hemiplegia of childhood and later developed developmental regression, basal ganglia injury and episodic lactic acidosis. Enzyme assay in lymphocytes confirmed a diagnosis of Pyruvate Dehydrogenase Complex (PDC) deficiency. His mother who was heterozygous for the same variant suffered from ophthalmoplegia, chronic migraine and developed flaccid paralysis at 36 years of age. PDHA1 is the most common genetic cause of PDC deficiency and presents with a myriad of neurological phenotypes including neonatal form with lactic acidosis, non-progressive infantile encephalopathy, Leigh syndrome subtype and intermittent ataxia. The presentations in our 2 patients contribute to the clinical heterogeneity of this neurogenetic condition.
Identifiants
pubmed: 33592356
pii: S1090-3798(21)00006-4
doi: 10.1016/j.ejpn.2021.01.006
pmc: PMC9745742
mid: NIHMS1673905
pii:
doi:
Substances chimiques
Pyruvate Dehydrogenase (Lipoamide)
EC 1.2.4.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
27-30Subventions
Organisme : NINDS NIH HHS
ID : U54 NS078059
Pays : United States
Informations de copyright
Copyright © 2021 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors have no conflicts of interest.
Références
JIMD Rep. 2013;10:107-11
pubmed: 23430811
Curr Treat Options Neurol. 2017 Feb;19(2):8
pubmed: 28337648
Mol Genet Metab. 2017 Nov;122(3):61-66
pubmed: 28918066
J Pediatr. 1987 Oct;111(4):525-33
pubmed: 3116190
Mol Genet Metab. 2011 Dec;104(4):507-16
pubmed: 21914562
Mol Genet Metab. 2012 Nov;107(3):394-402
pubmed: 23021068
Neuropediatrics. 2019 Apr;50(2):122-125
pubmed: 30650451
Eur J Paediatr Neurol. 2015 Sep;19(5):497-503
pubmed: 26008863
Am J Hum Genet. 1995 Mar;56(3):553-7
pubmed: 7887408
Neuromuscul Disord. 2017 Jan;27(1):94-97
pubmed: 27894792
Mol Genet Metab Rep. 2020 May 28;24:100609
pubmed: 32489883
Dev Med Child Neurol. 2010 Feb;52(2):e1-9
pubmed: 20002125
Clin Genet. 2010 May;77(5):474-82
pubmed: 20002461
J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):846-7
pubmed: 18559466
Nat Genet. 2012 Sep;44(9):1030-4
pubmed: 22842232
J Inherit Metab Dis. 1992;15(6):835-47
pubmed: 1293379
J Inherit Metab Dis. 1992;15(4):625-33
pubmed: 1528021
Mol Genet Metab. 2012 Jul;106(3):385-94
pubmed: 22896851
Pediatr Res. 1976 Jan;10(1):62-6
pubmed: 813176
J Inherit Metab Dis. 2017 Mar;40(2):237-245
pubmed: 28101805
Mitochondrion. 2006 Jun;6(3):155-9
pubmed: 16713755
Mol Genet Metab. 2017 Apr;120(4):342-349
pubmed: 28202214
Pediatr Neurol. 2011 Jul;45(1):57-9
pubmed: 21723463