Pediatric Neurology Unit, Buzzi Children's Hospital, Milan, Italy.
University of Milan, Milan, Italy.
Neurol Sci. 2023 Sep;44(9):3037-3043. doi: 10.1007/s10072-023-06790-0. Epub 2023 Apr 12.
Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%). To date, 44 patients with FDXR mutations have been reported. We describe here on two new patients, siblings, who presented with a quite different phenotype compared to previously described patients.
Clinical, neurophysiological, and genetic features of two siblings and a systematic literature review focused on the clinical spectrum of the disease are described.
Both patients presented with an acute-sub-acute onset of peripheral neuropathy and only in later stages of the disease developed the typical features of FDXR-associated disease.
The peculiar clinical presentation at onset and the evolution of the disease in our patients and in some cases revised from the literature shed lights on a new possible phenotype of FDXR-associated disease: a peripheral neuropathy which can mimic an acute inflammatory disease.
FDXR 基因突变涉及线粒体途径，导致一种罕见的隐性神经退行性疾病，其表型严重程度存在差异。最常见的表现包括视神经和/或听神经病，常伴有发育迟缓或倒退、全身肌张力低下、锥体束、小脑征和癫痫。对文献中先前描述的病例的临床发现进行综述，还揭示了感觉运动性周围多发性神经病（22.72%）和共济失调（43.18%）的发生率较高。迄今为止，已有 44 例 FDXR 突变患者被报道。我们在此描述了 2 例新的同胞患者，与之前描述的患者相比，他们的表型明显不同。
描述了 2 例同胞患者的临床、神经生理学和遗传学特征，并进行了系统性文献复习，重点关注该疾病的临床谱。
这两位患者均以周围神经病的急性亚急性起病，仅在疾病的后期才出现 FDXR 相关疾病的典型特征。
我们患者的独特临床表现和疾病的演变，以及一些病例从文献中进行了修正，提示 FDXR 相关疾病的一种新的可能表型：可模拟急性炎症性疾病的周围神经病。
