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SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

Authors :
Tonduti D
Invernizzi F
Panteghini C
Pinelli L
Battaglia S
Fazzi E
Zorzi G
Moroni I
Garavaglia B
Chiapparini L
Nardocci N
Source :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2018 Mar; Vol. 22 (2), pp. 332-335. Date of Electronic Publication: 2017 Dec 16.
Publication Year :
2018

Abstract

Encephalopathies with neostriatal involvement constitute a heterogeneous group of acquired and genetically inherited conditions that include Bilateral Striatal Necrosis (BSN) and other Striatal Lesions (SL) (Tonduti et al). We describe two new patients suffering from BSN due to biallelic SLC19A3 mutations. In the first patient vitamin supplementation was started early on, resulting in the remission of the clinical picture, and an almost complete normalization of the neuroradiological findings. In the second one treatment was started late, compliance was irregular and the resulting clinical outcome was poor. The clinical outcome of our two patients confirms and further stresses the importance of the early administration of vitamin supplementation in all patients presenting with neostriatal lesions, or clear bilateral striatal necrosis. Patient 2 didn't present any additional episode of acute decompensation after the age of 20 years despite having completely stopped treatment. This suggests the existence of an age dependency of thiamin requirement in humans.<br /> (Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Details

Language :
English
ISSN :
1532-2130
Volume :
22
Issue :
2
Database :
MEDLINE
Journal :
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Publication Type :
Academic Journal
Accession number :
29287834
Full Text :
https://doi.org/10.1016/j.ejpn.2017.11.012