scholarly journals Bilateral striatal necrosis associated with enterovirus infection

Author(s):  
Ferdinand Dueñas Cabrera Filho ◽  
Bruno Niemeyer de Freitas Ribeiro ◽  
Edson Marchiori
2014 ◽  
Vol 99 (Suppl 2) ◽  
pp. A421.1-A421
Author(s):  
L Celik ◽  
K Papakostas ◽  
A Artmann ◽  
V Vieth ◽  
M Uecer ◽  
...  

2019 ◽  
Vol 50 (05) ◽  
pp. 313-317 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Varunvenkat M. Srinivasan ◽  
Kapil Jehta ◽  
Maya D. Bhat

Abstract Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.


1998 ◽  
Vol 11 (1) ◽  
pp. 67-75 ◽  
Author(s):  
Takeshi Takami ◽  
Hisashi Kawashima ◽  
Yukito Takei ◽  
Tasuku Miyajima ◽  
Takayuki Mori ◽  
...  

Author(s):  
Francesco Porta ◽  
Barbara Siri ◽  
Nicoletta Chiesa ◽  
Federica Ricci ◽  
Lulash Nika ◽  
...  

AbstractObjectivesBiallelic mutations in the SLC25A19 gene impair the function of the thiamine mitochondrial carrier, leading to two distinct clinical phenotypes. Homozygosity for the c.530G > C mutation is invariably associated to Amish lethal microcephaly. The second phenotype, reported only in 8 patients homozygous for different non-Amish mutations (c.373G > A, c.580T > C, c.910G > A, c.869T > A, c.576G > C), is characterized by bilateral striatal necrosis and peripheral polyneuropathy. We report a new patient with the non-Amish SLC25A19 phenotype showing compound heterozygosity for the new variant c.673G > A and the known mutation c.373G > A.Case presentationThe natural history of non-Amish SLC25A19 deficiency is characterized by acute episodes of fever-induced encephalopathy accompanied by isolated lactic acidosis and Leigh-like features at magnetic resonance imaging (MRI). Acute episodes are prevented by high-dose thiamine treatment (600 mg/day). As shown in the new case, both mild clinical signs and basal ganglia involvement can precede the acute encephalopathic onset of the disease, potentially allowing treatment anticipation and prevention of acute brain damage. Peripheral axonal neuropathy, observed in 7 out of 9 patients, is not improved by thiamine therapy. In two early treated patients, however, peripheral neuropathy did not occur even on long-term follow-up, suggesting a potential preventive role of treatment anticipation also at the peripheral level.ConclusionsNon-Amish SLC25A19 deficiency is an extra-rare cause of Leigh syndrome responsive to thiamine treatment. Ex adiuvantibus thiamine treatment is mandatory in any patient with Leigh-like features.


Medicine ◽  
2017 ◽  
Vol 96 (4) ◽  
pp. e5827 ◽  
Author(s):  
Zon-Min Lee ◽  
Ying-Hsien Huang ◽  
Shu-Chen Ho ◽  
Ho-Chang Kuo

1994 ◽  
Vol 125 (1) ◽  
pp. 70-76 ◽  
Author(s):  
Simon A. Fox ◽  
Emma Finklestone ◽  
Peter D. Robbins ◽  
Frank L. Mastaglia ◽  
Nigel R. Swanson

2003 ◽  
Vol 69 (3) ◽  
pp. 426-440 ◽  
Author(s):  
Taina Härkönen ◽  
Anja Paananen ◽  
Hilkka Lankinen ◽  
Tapani Hovi ◽  
Outi Vaarala ◽  
...  

The Lancet ◽  
1988 ◽  
Vol 332 (8617) ◽  
pp. 968-969 ◽  
Author(s):  
A. Cénac ◽  
Y. Gaultier ◽  
A. Devillechabrolle ◽  
R. Moulias

1992 ◽  
Vol 8 (5) ◽  
pp. 400-401
Author(s):  
Sérgio Rosemberg ◽  
Egberto R. Barbosa ◽  
Fernando Arita ◽  
Suzana Kliemann
Keyword(s):  

2021 ◽  
Vol 22 (6) ◽  
pp. 2904
Author(s):  
Peiyu Zhu ◽  
Shuaiyin Chen ◽  
Weiguo Zhang ◽  
Guangcai Duan ◽  
Yuefei Jin

Enteroviruses (EVs) are common RNA viruses that can cause various types of human diseases and conditions such as hand, foot, and mouth disease (HFMD), myocarditis, meningitis, sepsis, and respiratory disorders. Although EV infections in most patients are generally mild and self-limiting, a small number of young children can develop serious complications such as encephalitis, acute flaccid paralysis, myocarditis, and cardiorespiratory failure, resulting in fatalities. Established evidence has suggested that certain non-coding RNAs (ncRNAs) such as microRNAs (miRNAs), long ncRNAs (lncRNAs), and circular RNAs (circRNAs) are involved in the occurrence and progression of many human diseases. Recently, the involvement of ncRNAs in the course of EV infection has been reported. Herein, the authors focus on recent advances in the understanding of ncRNAs in EV infection from basic viral pathogenesis to clinical prospects, providing a reference basis and new ideas for disease prevention and research directions.


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