Papandreou A, Soo A K S, Spaull R, Mankad K, Kurian M A, Sudhakar S
From the Molecular Neurosciences (A.P., A.K.S.S., R.S., M.A.K.), Developmental Neurosciences Programme, Zayed Centre for Research into Rare Disease in Children, University College London Great Ormond Street Institute of Child Health, London, UK
Departments of Neurology (A.P., A.K.S.S., R.S., M.A.K.).
AJNR Am J Neuroradiol. 2022 Dec;43(12):1810-1814. doi: 10.3174/ajnr.A7693. Epub 2022 Nov 3.
β propeller protein-associated neurodegeneration (BPAN) is the most common neurodegeneration with brain iron accumulation disorder. Typical radiologic findings are T2 hypointensity in the substantia nigra and globus pallidus, as well as a T1 halolike substantia nigra hyperintense signal surrounding a hypointense central area. However, these findings are often subtle or absent on initial scans, risking diagnostic delay. In this study, we sought to investigate radiologic findings that could aid in the early diagnosis of BPAN.
A retrospective cohort study was performed in a national referral center, including all pediatric patients with confirmed pathogenic mutations and consistent clinical semiology. MR imaging findings were independently reported by 2 pediatric neuroradiologists.
Fifteen patients were included in the study, and 27 scans were available for review. The initial neuroimaging study was undertaken at a mean age of 3.2 years. Iron deposition was uncommon in patients younger than 4 years of age. Neuroradiologic features from very early on included dentate, globus pallidus, and substantia nigra swelling, as well as a thin corpus callosum and small pontine volume. Optic nerve thinning was also present in all patients.
Our study highlights the key early MR imaging features of BPAN. Iron deposition in the globus pallidus and substantia nigra is not common in children younger than 4 years of age; clinicians should not be deterred from suspecting BPAN in the presence of the findings described in this study and the appropriate clinical context.
β螺旋桨蛋白相关神经变性（BPAN）是最常见的伴有脑铁沉积的神经变性疾病。典型的放射学表现为黑质和苍白球T2低信号，以及黑质中央低信号周围的T1晕状高信号。然而，这些表现常在初次扫描时不明显或未出现，存在诊断延迟的风险。在本研究中，我们试图探究有助于BPAN早期诊断的放射学表现。
在一家全国性转诊中心进行了一项回顾性队列研究，纳入所有确诊致病突变且临床症状学一致的儿科患者。MR成像结果由2名儿科神经放射科医生独立报告。
本研究共纳入15例患者，可用于回顾的扫描有27次。初次神经影像学检查的平均年龄为3.2岁。4岁以下患者铁沉积不常见。早期的神经放射学特征包括齿状核、苍白球和黑质肿胀，以及胼胝体变薄和脑桥体积减小。所有患者均存在视神经变细。
我们的研究突出了BPAN早期关键的MR成像特征。4岁以下儿童苍白球和黑质铁沉积不常见；在本研究所述表现及适当临床背景下，临床医生不应因怀疑BPAN而却步。
