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Academia Mexicana de Neurología, A.C.

2014, Number 4

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Rev Mex Neuroci 2014; 15 (4)

Neurofibromatosis type 1 and spinal tumor with holocord syringomyelia: A case illustration

Carrillo-Pérez DL, De la Mora-Molina H, Rubalcava-Ortega J, Cosme-Labarthe J, Chiquete E

Language: Spanish
References: 34
Page: 234-238
PDF size: 206.19 Kb.


ABSTRACT

Introduction: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. The association of NF1 with spinal tumors is common; however, the coexistence with holocordal syringomyelia in the context of NF1 has never been documented. Herein we report the case of this rare connection.
Case Report: A 19-year-old man diagnosed with NF1 presented with altered urinary function, pain in the right lower limb, left lower limb paresthesias, sensory ataxia and saddle hypoesthesia. Incomplete cord syndrome was integrated with T8 sensory level, since it was identified involvement of the posterior columns, spinothalamic tract and to a much lesser degree of corticospinal tract on physical exam. MRI of the spine showed an intramedullary lesion of solid appearance from T2 to T6 cord levels, and surprisingly, a large multilobulated syrinx was evidenced from C2 to the conus medullaris, as well as multiple neurofibromas of plexiform appearance into the emergencies of sacrococcygeal nerve roots. On MRI could also be evidenced presyrinx changes into the medulla-cord junction. Resection of the intramedullary lesion was performed, and histopathological analysis was consistent with atypical neurofibroma.
Conclusion: This case illustrates the association of NF1 with intramedullary tumors leading to secondary holocordal syringomyelia. It was also documented the so-called presyrinx myelopathy, which supports the hypothesis of compression and alteration of the CSF flow as the pathogenesis of the spinal cord cavity formation.


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