Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease is a severe form of a rare neurogenetic disorder caused by pathogenic molecular variants in the thiamine transporter gene. Nowadays, a potentially effective treatment is known, therefore the early diagnosis is mandatory. The aim of the paper was to as...
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doaj-14f4eb92eb884b299c964e24ac08d0582020-11-24T23:50:56ZengTermedia Publishing HouseFolia Neuropathologica1641-46401509-572X2017-06-0155214615310.5114/fn.2017.6858130153Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia diseaseMaciej PronickiDorota Piekutowska-AbramczukElżbieta JurkiewiczDariusz RokickiElżbieta CiaraJoanna TrubickaKatarzyna Iwanicka-PronickaMagdalena PajdowskaMarek MigdałWieslawa A. GrajkowskaBiotin-thiamine-responsive basal ganglia disease is a severe form of a rare neurogenetic disorder caused by pathogenic molecular variants in the thiamine transporter gene. Nowadays, a potentially effective treatment is known, therefore the early diagnosis is mandatory. The aim of the paper was to assess the contribution of neuropathological and magnetic resonance imaging (MRI) studies to a proper diagnosis. We present the brain study of two Polish patients with SLC19A3 mutations, including (1) an infant with an intriguing “walnut” appearance of the brain autopsied many years before the discovery of the SLC19A3 defect, and (2) a one-year-old patient with clinical features of Leigh syndrome. In patient 2, biotin/thiamine responsiveness was not tested at the time of diagnosis and causal treatment started with one-year delay. The central nervous system lesions found in the patients displayed almost clearly a specific pattern for SLC19A3 defect, as previously proposed in diagnostic criteria. Our study presents a detailed description of neuropathological and MRI findings of both patients. We confirm that the autopsy and/or MRI of the brain is sufficient to qualify a patient with an unknown neuropathological disorder directly for SLC19A3 mutations testing and a prompt trial of specific treatment.https://www.termedia.pl/Neuropathological-characteristics-of-the-brain-in-two-patients-with-SLC19A3-mutations-related-to-the-biotin-thiamine-responsive-basal-ganglia-disease,20,30153,1,1.html<i>basal ganglia disease SLC19A3 mutations MRI autopsy neuropathology thiamine transporter</i> |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Maciej Pronicki Dorota Piekutowska-Abramczuk Elżbieta Jurkiewicz Dariusz Rokicki Elżbieta Ciara Joanna Trubicka Katarzyna Iwanicka-Pronicka Magdalena Pajdowska Marek Migdał Wieslawa A. Grajkowska |
spellingShingle |
Maciej Pronicki Dorota Piekutowska-Abramczuk Elżbieta Jurkiewicz Dariusz Rokicki Elżbieta Ciara Joanna Trubicka Katarzyna Iwanicka-Pronicka Magdalena Pajdowska Marek Migdał Wieslawa A. Grajkowska Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease Folia Neuropathologica <i>basal ganglia disease SLC19A3 mutations MRI autopsy neuropathology thiamine transporter</i> |
author_facet |
Maciej Pronicki Dorota Piekutowska-Abramczuk Elżbieta Jurkiewicz Dariusz Rokicki Elżbieta Ciara Joanna Trubicka Katarzyna Iwanicka-Pronicka Magdalena Pajdowska Marek Migdał Wieslawa A. Grajkowska |
author_sort |
Maciej Pronicki |
title |
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease |
title_short |
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease |
title_full |
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease |
title_fullStr |
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease |
title_full_unstemmed |
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease |
title_sort |
neuropathological characteristics of the brain in two patients with slc19a3 mutations related to the biotin-thiamine-responsive basal ganglia disease |
publisher |
Termedia Publishing House |
series |
Folia Neuropathologica |
issn |
1641-4640 1509-572X |
publishDate |
2017-06-01 |
description |
Biotin-thiamine-responsive basal ganglia disease is a severe form of a rare neurogenetic disorder caused by pathogenic molecular variants in the thiamine transporter gene. Nowadays, a potentially effective treatment is known, therefore the early diagnosis is mandatory. The aim of the paper was to assess the contribution of neuropathological and magnetic resonance imaging (MRI) studies to a proper diagnosis. We present the brain study of two Polish patients with SLC19A3 mutations, including (1) an infant with an intriguing “walnut” appearance of the brain autopsied many years before the discovery of the SLC19A3 defect, and (2) a one-year-old patient with clinical features of Leigh syndrome. In patient 2, biotin/thiamine responsiveness was not tested at the time of diagnosis and causal treatment started with one-year delay.
The central nervous system lesions found in the patients displayed almost clearly a specific pattern for SLC19A3 defect, as previously proposed in diagnostic criteria. Our study presents a detailed description of neuropathological and MRI findings of both patients.
We confirm that the autopsy and/or MRI of the brain is sufficient to qualify a patient with an unknown neuropathological disorder directly for SLC19A3 mutations testing and a prompt trial of specific treatment. |
topic |
<i>basal ganglia disease SLC19A3 mutations MRI autopsy neuropathology thiamine transporter</i> |
url |
https://www.termedia.pl/Neuropathological-characteristics-of-the-brain-in-two-patients-with-SLC19A3-mutations-related-to-the-biotin-thiamine-responsive-basal-ganglia-disease,20,30153,1,1.html |
work_keys_str_mv |
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