Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Jehta Kapil, Bhat Maya D
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Department of Neuroradiology, National Institute of Mental Health and Neurosciences, Bangalore, India.
Neuropediatrics. 2019 Oct;50(5):313-317. doi: 10.1055/s-0039-1693148. Epub 2019 Jul 11.
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 gene mutations.
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.
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 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the 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.
If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to mutations should be considered and thiamine should be initiated.
基因突变导致阿米什先天性致死性小头畸形以及伴有多发性神经病的双侧纹状体坏死。我们报告两例因基因突变导致的伴有多发性神经病的双侧纹状体坏死病例。
一名36个月大的男孩和一名5岁的女孩，无血缘关系，在非特异性发热性疾病后出现反复弛缓性麻痹和脑病发作。检查显示肌张力障碍和腱反射消失。
神经传导研究显示轴索性多发性神经病。两例患者的脑部磁共振成像（MRI）均显示基底神经节信号改变。下一代测序显示，男孩的该基因存在一个新的纯合错义变异c.910G>A（p.Glu304Lys），女孩的该基因存在一个纯合突变c.869T>A（p.Leu290Gln）。通过桑格测序验证了突变，并确认了两个孩子父母的携带者状态。两名儿童补充硫胺素后均有改善。
如果任何儿童出现反复的脑病伴弛缓性麻痹、肌张力障碍和神经病，应考虑诊断为因该基因突变导致的伴有多发性神经病的双侧纹状体坏死，并应开始补充硫胺素。
