Department of Neurology, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil.
Neuroradiology Section, High Diagnostic Excellence (DASA Group), São Paulo, Brazil.
Ann Neurol. 2019 Sep;86(3):458-462. doi: 10.1002/ana.25549. Epub 2019 Jul 24.
Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived >1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019;86:458-462.
脊髓性肌萎缩症（SMA）0 型是最严重的 SMA 形式，与 SMN1 基因相关，在出生时表现出来。大多数患者在生命的头几周内死亡。在这项工作中，我们介绍了 3 名 SMA 0 型患者，他们的存活时间超过 1 年，并在磁共振成像上表现出弥散性和进行性脑异常，这在 SMA 患者中通常看不到。因此，严重的脑受累可能是由于大脑中 SMN 蛋白的大量减少导致的已经非常极端的 SMA 表型的完全终末表现。神经病学年鉴 2019；86:458-462.
