Ahmed Molla I, Hussain Nahin
Department of Paediatrics, University Hospitals of Leicester, Leicester, United Kingdom.
Leicester Royal Infirmary, University Hospitals of Leicester, Leicester, United Kingdom.
J Pediatr Neurosci. 2017 Oct-Dec;12(4):378-382. doi: 10.4103/jpn.JPN_20_17.
Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is characteristic of this condition. A number of neuro-radiological findings have been reported in this condition. We report the spectrum of neuro-radiological findings in three affected boys being treated at our centre. We suggest that magnetic resonance imaging (MRI) and, in particular magnetic resonance angiography (MRA) when taken in the context of the clinical presentation may be helpful in making an early diagnosis of this devastating condition.
门克斯病（MD）是一种罕见的婴儿期起病的神经退行性疾病，由X连锁基因突变引起。这些患者可能出现生长发育迟缓、严重精神运动发育迟缓、癫痫发作和头发色素减退，这是该疾病的特征。关于这种疾病已经报道了一些神经放射学表现。我们报告了在我们中心接受治疗的三名患病男孩的神经放射学表现谱。我们认为，结合临床表现进行磁共振成像（MRI）检查，尤其是磁共振血管造影（MRA）检查，可能有助于早期诊断这种严重疾病。
