TY - JOUR
T1 - SLC19A3 related disorder
T2 - Treatment implication and clinical outcome of 2 new patients
AU - Tonduti, Davide
AU - Invernizzi, Federica
AU - Panteghini, Celeste
AU - Pinelli, Lorenzo
AU - Battaglia, Silvia
AU - Fazzi, Elisa
AU - Zorzi, Giovanna
AU - Moroni, Isabella
AU - Garavaglia, Barbara
AU - Chiapparini, Luisa
AU - Nardocci, Nardo
PY - 2018/3/1
Y1 - 2018/3/1
N2 - 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.
AB - 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.
KW - Bilateral striatal necrosis
KW - Dystonia
KW - SLC19A3
KW - Striatal lesions
KW - Thiamin
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U2 - 10.1016/j.ejpn.2017.11.012
DO - 10.1016/j.ejpn.2017.11.012
M3 - Article
C2 - 29287834
AN - SCOPUS:85039068698
VL - 22
SP - 332
EP - 335
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 2
ER -