Tonduti Davide, Dorboz Imen, Imbard Apolline, Slama Abdelhamid, Boutron Audrey, Pichard Samia, Elmaleh Monique, Vallée Louis, Benoist Jean François, Ogier Heléne, Boespflug-Tanguy Odile
Paris Diderot University - Sorbonne Paris Cité; Inserm U1141, DHU PROTECT, Robert Debré Hospital, Paris, France.
Department of Brain and Behavioral Sciences, Unit of Child Neurology and Psychiatry, University of Pavia, Pavia, Italy.
Orphanet J Rare Dis. 2015 Feb 8;10:13. doi: 10.1186/s13023-015-0237-6.
Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. We report a new NFU1 mutated patient presenting with a milder phenotype characterized by a later onset, a slowly progressive spastic paraparesis with relapsing-remitting episodes, mild cognitive impairment and a long survival. The early white matter abnormalities observed on MRI was combined with a mixed sensory-motor neuropathy in the third decade. Our case clearly suggests the importance of considering NFU1 mutation in slowly evolving leukoencephalopathy with high glycine concentration.
最近，已经描述了一种与铁硫簇代谢相关基因之一的NFU1突变有关的早发性致死性脑病。我们报告了一名新的NFU1突变患者，其表现出较轻的表型，特征为发病较晚、缓慢进展的痉挛性截瘫伴复发-缓解发作、轻度认知障碍和长期存活。在第三个十年中，MRI上观察到的早期白质异常与混合性感觉运动性神经病变并存。我们的病例清楚地表明，在高甘氨酸浓度的缓慢进展性白质脑病中考虑NFU1突变的重要性。
