Pons calcifications and striatal necrosis in ADAR1 Aicardi‐Goutières Syndrome

2021 ◽  
Author(s):  
Catarina Pinto ◽  
João Freixo ◽  
Ana Filipa Brandão ◽  
Marina Magalhães
Keyword(s):  
Striatal Necrosis

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder—A Report of Two Indian Cases

2019 ◽  
Vol 50 (05) ◽  
pp. 313-317 ◽  
Author(s):  
Vykuntaraju K. Gowda ◽  
Varunvenkat M. Srinivasan ◽  
Kapil Jehta ◽  
Maya D. Bhat
Keyword(s):  
Gene Mutations ◽  
Febrile Illness ◽  
Flaccid Paralysis ◽  
Thiamine Pyrophosphate ◽  
Homozygous Mutation ◽  
Missense Variation ◽  
Magnetic Resonance Imaging Mri ◽  
The Brain ◽  
Generation Sequencing ◽  
Striatal Necrosis

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.

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Francesco Porta ◽  
Barbara Siri ◽  
Nicoletta Chiesa ◽  
Federica Ricci ◽  
Lulash Nika ◽  
...  
Keyword(s):  
Axonal Neuropathy ◽  
Clinical Signs ◽  
Leigh Syndrome ◽  
High Dose ◽  
New Variant ◽  
Long Term Follow Up ◽  
Basal Ganglia Involvement ◽  
Biallelic Mutations ◽  
Thiamine Treatment ◽  
Striatal Necrosis

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.

Familial striatal necrosis: Report of 5 cases

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

scholarly journals Bilateral striatal necrosis caused by a founder mitochondrial 14459G > A mutation in two independent Japanese families

2017 ◽  
Vol 378 ◽  
pp. 177-181 ◽  
Author(s):  
Kimitoshi Hirayanagi ◽  
Yuji Okamoto ◽  
Eriko Takai ◽  
Kunihiko Ishizawa ◽  
Kouki Makioka ◽  
...  
Keyword(s):  
Striatal Necrosis

scholarly journals Familial Infantile Bilateral Striatal Necrosis

2002 ◽  
Vol 16 (10) ◽  
pp. 77
Author(s):  
J Gordon Millichap
Keyword(s):  
Striatal Necrosis

Mutatednup62causes autosomal recessive infantile bilateral striatal necrosis

2006 ◽  
Vol 60 (2) ◽  
pp. 214-222 ◽  
Author(s):  
Lina Basel-Vanagaite ◽  
Liora Muncher ◽  
Rachel Straussberg ◽  
Metsada Pasmanik-Chor ◽  
Michal Yahav ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Striatal Necrosis

scholarly journals Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation

2008 ◽  
Vol 23 (1) ◽  
pp. 114-118 ◽  
Author(s):  
Maria Stella Aniello ◽  
Davide Martino ◽  
Vittoria Petruzzella ◽  
Roberto Eleopra ◽  
Michelangelo Mancuso ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Deep Brain Stimulation ◽  
Brain Stimulation ◽  
Dna Deletions ◽  
Deep Brain ◽  
Striatal Necrosis

NMR STUDIES IN THALAMIC-STRIATAL NECROSIS

The Lancet ◽  
1985 ◽  
Vol 326 (8452) ◽  
pp. 445
Author(s):  
Thomas Voit ◽  
Peter Lemburg ◽  
Wolfgang Stork
Keyword(s):  
Nmr Studies ◽  
Striatal Necrosis

scholarly journals 827 Slc25A19 Mutation is a Novel Cause of Neuropathy and Bilateral Striatal Necrosis

2010 ◽  
Vol 68 ◽  
pp. 415-415
Author(s):  
R Spiegel ◽  
A Shaag ◽  
S Edvardson ◽  
H Mandel ◽  
S Shalev ◽  
...  
Keyword(s):  
Striatal Necrosis
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