Chan Sophelia H S, Tsang Dickson S F, Wong Virginia C N, Chan Godfrey C F
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China
Department of Radiology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.
J Child Neurol. 2015 Feb;30(2):254-8. doi: 10.1177/0883073814527160. Epub 2014 Mar 20.
We report a young boy who presented with progressive weakness of lower extremities associated with areflexia and abnormal electrophysiological findings initially suggestive of chronic inflammatory demyelinating polyneuropathy. Initial lumbosacral spinal magnetic resonance imaging (MRI) showed thickened descending spinal nerve roots only. Immunomodulating therapy was given but with limited clinical response. Repeated spine magnetic resonance imaging showed cauda equina and also new spinal cord extramedullary contrast enhancement. The initial extensive investigations including open biopsy did not point to any specific diagnosis. Only through pursuing a repeated biopsy, the diagnosis of the spinal peripheral primitive neuroectodermal tumor was confirmed. This case highlights the diagnostic challenges of the spinal peripheral primitive neuroectodermal tumor that could have an initial chronic inflammatory demyelinating polyneuropathy-like presentation. The literature review confirms that this is a rare condition and cauda equina origin has only been reported in adults and teenagers, and this is the first reported case in a young child.
我们报告了一名年轻男孩，他表现为下肢进行性无力，伴有反射消失和异常的电生理检查结果，最初提示为慢性炎症性脱髓鞘性多发性神经病。最初的腰骶部脊髓磁共振成像（MRI）仅显示下行脊髓神经根增粗。给予了免疫调节治疗，但临床反应有限。重复的脊柱磁共振成像显示马尾神经以及新的脊髓髓外对比增强。最初包括开放活检在内的广泛检查未指向任何特定诊断。仅通过再次活检，才确诊为脊髓外周原始神经外胚层肿瘤。该病例突出了脊髓外周原始神经外胚层肿瘤的诊断挑战，其最初可能表现为类似慢性炎症性脱髓鞘性多发性神经病。文献综述证实这是一种罕见疾病，马尾神经起源仅在成人和青少年中报道过，而这是首次在幼儿中报道的病例。
