title: Spinal primitive neuroectodermal tumor mimicking as chronic inflammatory demyelination polyneuropathy: a case report and review of literature.
abstract: 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.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China sophehs@hku.hk.
authors.forename: Sophelia H S
authors.initials: SH
authors.lastname: Chan
authors.affiliation: Department of Radiology, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.
authors.forename: Dickson S F
authors.initials: DS
authors.lastname: Tsang
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.
authors.forename: Virginia C N
authors.initials: VC
authors.lastname: Wong
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong, China.
authors.forename: Godfrey C F
authors.initials: GC
authors.lastname: Chan
mesh_terms: D002648:Child; D018450:Disease Progression; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018242:Neuroectodermal Tumors, Primitive / Q000175:diagnosis*; D020277:Polyradiculoneuropathy, Chronic Inflammatory Demyelinating / Q000503:physiopathology*; D013116:Spinal Cord / Q000473:pathology; D013127:Spinal Nerves / Q000473:pathology
keywords: chronic inflammatory demyelinating polyneuropathy; spinal primitive neuroectodermal tumor