Tags

Type your tag names separated by a space and hit enter

Cauda Equina Syndrome as First Manifestation of von Hippel-Lindau Disease.
World Neurosurg. 2019 05; 125:316-319.WN

Abstract

BACKGROUND

Von-Hippel Lindau (VHL) disease is rare neurocutaneous disorder arising from an inactivating mutation of the VHL gene on chromosome 3p35. The disease is inherited in an autosomal dominant fashion and predominantly involves tissues originating from the ectodermal germ layer. Although hemangioblastomas of retina and cerebellum are the most common clinical features, multiple-organ involvement in the form of renal cell carcinomas, spinal hemangioblastomas, renal cysts, and pancreatic cysts have also been reported. Hemangioblastomas of the spinal canal could present as cauda equina syndrome.

CASE DESCRIPTION

We describe the case of a 55-year-old man with cauda equina syndrome as his first manifestation. An initial magnetic resonance imaging scan uncovered hemangiomas in the spinal canal. A thorough family history strongly suggested an autosomal dominant pattern of disease inheritance. Further physical examination and imaging revealed additional organ involvement consistent with VHL. We performed laminectomy and partial resection of hemangioblastoma for decompression. He recovered satisfactorily with his cauda equina syndrome resolving quickly post operation. No deterioration was apparent by the 12-month follow-up visit.

CONCLUSIONS

To the best of our knowledge, this is the first case with cauda equina syndrome as the first manifestation of VHL disease. Laminectomy and partial resection of hemangioblastoma are safe and effective treatments to resolve impingement of the spinal cord. VHL disease resulting in hemangioblastoma in the spinal canal is rarely seen but should be included in the differential diagnosis of cauda equina syndrome to facilitate genetic counseling for the proband and offspring.

Authors+Show Affiliations

Department of Orthopedics, Zhejiang Provincial People's Hospital, Hangzhou, China; Hangzhou Medical College People's Hospital, Hangzhou, China; School of Clinical Medicine, Wenzhou Medical College, Wenzhou, China.Department of Orthopedics, Fuyang First People's Hospital, Hangzhou, China.Department of Orthopedics, Zhejiang Provincial People's Hospital, Hangzhou, China; Hangzhou Medical College People's Hospital, Hangzhou, China.Department of Orthopedics, Zhejiang Provincial People's Hospital, Hangzhou, China; Hangzhou Medical College People's Hospital, Hangzhou, China.Department of Orthopedics, Zhejiang Provincial People's Hospital, Hangzhou, China; Hangzhou Medical College People's Hospital, Hangzhou, China.Department of Orthopedics, Zhejiang Provincial People's Hospital, Hangzhou, China; Hangzhou Medical College People's Hospital, Hangzhou, China.Department of Spine Surgery, University of Rochester Medical Center, Rochester, New York, USA.Department of Orthopedics, Zhejiang Provincial People's Hospital, Hangzhou, China; Hangzhou Medical College People's Hospital, Hangzhou, China. Electronic address: spinezhangjun@aliyun.com.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

30780037

Citation

Chen, Xinji, et al. "Cauda Equina Syndrome as First Manifestation of Von Hippel-Lindau Disease." World Neurosurgery, vol. 125, 2019, pp. 316-319.
Chen X, Xu G, Bi Q, et al. Cauda Equina Syndrome as First Manifestation of von Hippel-Lindau Disease. World Neurosurg. 2019;125:316-319.
Chen, X., Xu, G., Bi, Q., Huang, Y., Shao, H., Jin, M., Mesfin, A., & Zhang, J. (2019). Cauda Equina Syndrome as First Manifestation of von Hippel-Lindau Disease. World Neurosurgery, 125, 316-319. https://doi.org/10.1016/j.wneu.2019.01.269
Chen X, et al. Cauda Equina Syndrome as First Manifestation of Von Hippel-Lindau Disease. World Neurosurg. 2019;125:316-319. PubMed PMID: 30780037.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cauda Equina Syndrome as First Manifestation of von Hippel-Lindau Disease. AU - Chen,Xinji, AU - Xu,Guokang, AU - Bi,Qing, AU - Huang,Yazeng, AU - Shao,Haiyu, AU - Jin,Mengran, AU - Mesfin,Addisu, AU - Zhang,Jun, Y1 - 2019/02/16/ PY - 2018/12/30/received PY - 2019/01/25/revised PY - 2019/01/29/accepted PY - 2019/2/20/pubmed PY - 2019/11/7/medline PY - 2019/2/20/entrez KW - Cauda equina syndrome KW - Hemangioblastomas KW - Surgical treatment KW - VHL disease SP - 316 EP - 319 JF - World neurosurgery JO - World Neurosurg VL - 125 N2 - BACKGROUND: Von-Hippel Lindau (VHL) disease is rare neurocutaneous disorder arising from an inactivating mutation of the VHL gene on chromosome 3p35. The disease is inherited in an autosomal dominant fashion and predominantly involves tissues originating from the ectodermal germ layer. Although hemangioblastomas of retina and cerebellum are the most common clinical features, multiple-organ involvement in the form of renal cell carcinomas, spinal hemangioblastomas, renal cysts, and pancreatic cysts have also been reported. Hemangioblastomas of the spinal canal could present as cauda equina syndrome. CASE DESCRIPTION: We describe the case of a 55-year-old man with cauda equina syndrome as his first manifestation. An initial magnetic resonance imaging scan uncovered hemangiomas in the spinal canal. A thorough family history strongly suggested an autosomal dominant pattern of disease inheritance. Further physical examination and imaging revealed additional organ involvement consistent with VHL. We performed laminectomy and partial resection of hemangioblastoma for decompression. He recovered satisfactorily with his cauda equina syndrome resolving quickly post operation. No deterioration was apparent by the 12-month follow-up visit. CONCLUSIONS: To the best of our knowledge, this is the first case with cauda equina syndrome as the first manifestation of VHL disease. Laminectomy and partial resection of hemangioblastoma are safe and effective treatments to resolve impingement of the spinal cord. VHL disease resulting in hemangioblastoma in the spinal canal is rarely seen but should be included in the differential diagnosis of cauda equina syndrome to facilitate genetic counseling for the proband and offspring. SN - 1878-8769 UR - https://www.unboundmedicine.com/medline/citation/30780037/Cauda_Equina_Syndrome_as_First_Manifestation_of_von_Hippel_Lindau_Disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1878-8750(19)30388-2 DB - PRIME DP - Unbound Medicine ER -