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

Davide Tonduti, Federica Invernizzi, Celeste Panteghini, Lorenzo Pinelli, Silvia Battaglia, Elisa Fazzi, Giovanna Zorzi, Isabella Moroni, Barbara Garavaglia, Luisa Chiapparini, Nardo Nardocci

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)332-335
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume22
Issue number2
DOIs
Publication statusPublished - Mar 1 2018

Keywords

  • Bilateral striatal necrosis
  • Dystonia
  • SLC19A3
  • Striatal lesions
  • Thiamin

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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