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A rare Von Hippel-Lindau disease that mimics acute myelitis: case report and review of the literature.
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MedLine Citation:
PMID:  20927563     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Von Hippel-Lindau disease (VHL) comprises a series of complicated clinical manifestations. We hereby report one unique case of VHL with a natural history that mimics acute myelitis. MRI and biopsy in this patient showed multiple solid hemangioblastomas of the central nervous system and kidney. This study further confirmed that VHL is of highly clinical, imaging, and pathological heterogeneity. Diagnosis for VHL should be based on combination of clinical, radiological, pathological, and genetic data.
Authors:
Hong Jiang; Yu-ting Shi; Jun-ling Wang; Bei-sha Tang; Jun-yu Wang; Ze-feng Peng; De-sheng Xiao
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2010-10-07
Journal Detail:
Title:  Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology     Volume:  32     ISSN:  1590-3478     ISO Abbreviation:  Neurol. Sci.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-15     Completed Date:  2011-07-07     Revised Date:  2013-07-03    
Medline Journal Info:
Nlm Unique ID:  100959175     Medline TA:  Neurol Sci     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  305-7     Citation Subset:  IM    
Affiliation:
Department of Neurology, Xiangya Hospital, Central South University, 87# Xiangya Road, Changsha, 410008, Hunan, People's Republic of China. jianghong73868@yahoo.com.cn
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MeSH Terms
Descriptor/Qualifier:
Adult
Diagnostic Errors
Hemangioblastoma / etiology,  pathology
Humans
Male
Myelitis / diagnosis*
Neurologic Examination*
Pedigree
Spinal Cord Neoplasms / etiology,  pathology
von Hippel-Lindau Disease / complications,  pathology*
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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Journal Information
Journal ID (nlm-ta): Neurol Sci
ISSN: 1590-1874
ISSN: 1590-3478
Publisher: Springer Milan, Milan
Article Information
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© The Author(s) 2010
Received Day: 3 Month: 11 Year: 2009
Accepted Day: 1 Month: 9 Year: 2010
Electronic publication date: Day: 7 Month: 10 Year: 2010
pmc-release publication date: Day: 7 Month: 10 Year: 2010
Print publication date: Month: 4 Year: 2011
Volume: 32 Issue: 2
First Page: 305 Last Page: 307
ID: 3056988
PubMed Id: 20927563
Publisher Id: 413
DOI: 10.1007/s10072-010-0413-3

A rare Von Hippel–Lindau disease that mimics acute myelitis: case report and review of the literature
Hong Jiang12 Address: +86-731-84327216 +86-731-84327332 jianghong73868@yahoo.com.cn
Yu-ting Shi1
Jun-ling Wang1
Bei-sha Tang12
Jun-yu Wang3
Ze-feng Peng3
De-sheng Xiao4
1Department of Neurology, Xiangya Hospital, Central South University, 87# Xiangya Road, Changsha, 410008 Hunan People’s Republic of China
2Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008 Hunan People’s Republic of China
3Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, 410008 Hunan People’s Republic of China
4Department of Pathology, Xiangya Hospital, Central South University, Changsha, 410008 Hunan People’s Republic of China

Introduction

Von Hippel–Lindau disease (VHL), a multisystem hereditary neoplastic syndrome, most commonly presents with a cerebellar or retinal hemangioblastoma [1]. The disease is complex in its manifestation and therefore difficult to diagnose. We here present one unique case of VHL with a natural history that was initially misevaluated as acute myelitis, which together with literatures reviewed will be helpful for a better understanding of VHL.


Case report

A 28-year-old male presented with a 2-day history of acute and progressive back–neck pain, and numbness and weakness of both lower extremities concurrent with feces and urine retention secondary to an influenza 1 week before onset. He responded markedly to intravenous administration of glucocorticoid for 1 week after being initially misevaluated as “acute myelitis” in a poor countryside clinic, who was misdiagnosed by the barefoot doctor only according to his natural history without detailed examination by CT or MRI. On our body examination, muscle strength of lower limbs was grade 5, with increase of their muscle tone and accentuation of deep tendon reflex. Banbinski sign and meningeal stimulation response were positive. Superficial and deep hypoesthesia below T9 were found.

Routine examinations, including cerebrospinal fluid, showed no abnormality except that abdominal ultrasound demonstrated renal lesions. Magnetic resonance brain, spinal cord, and kidney images showed multiple lesions of different size, mostly with clear boundaries and marked contrast enhancement (Fig. 1a–d). Spinal canal explorations revealed two red nodular subdural lesions at T10 and T12 that accorded with Fig. 1a. Pathological analysis indicated many small blood vessels with a small amount of foam cells, fat-like cells and fibroblasts, which tested positive for GFAP, F8, and Lys, though negative for CD68, CK-pan, and EMA by immunohistochemistry assay (Fig. 1e, f). The mutation analysis was completed yet did not find the variation after polymerase chain reaction (PCR) and sequencing of three exons of VHL gene. Systematic enquiry and examinations indicated his father as an asymptomatic affected individual with hemangioblastomas involved in brain and kidney. The patient improved further on his neurological manifestation 2 weeks after surgery on the two nodules. One year later, a follow-up study indicated that he was completely rehabilitated.


Discussion

The VHL is a rare (1/36,000), autosomal dominant, neurocutaneous dysplastic condition [1, 2]. The following three criteria suggest a diagnosis of VHL: (1) one or more hemangioblastomas within the central nervous system (typically in the cerebellum), (2) presence of visceral lesions (e.g. renal, pancreatic tumors/cysts), and (3) familial incidence [14]. Common tumors found in VHL include retinal angiomas, CNS hemangioblastomas, renal cell carcinomas, and pheochromocytoma [16]. This patient was characterized by multiple tumors involved in both the central nervous system and visceral, as well as family history, which was in accordance with VHL criteria. Our case also exemplified a rare presentation of VHL as only a minority of hemangioblastomas will present in the spinal cord and even fewer in the cervical spine [3]. Furthermore, never has a case of VHL been reported that mimics onset form of acute myelitis.

Hemangioblastomas in CNS commonly occur in the posterior fossa and craniocervical junction [1, 2]. In this case, the brain lesions presented in posterior medullar adjacent to midmost foramina of the fourth ventricle, which had rarely been reported previously, and the spine lesions mainly occurred in the subdura of the cervical and thoracic spine in accordance with the previous report. It was reported that renal lesions are usually cysts or solid tumors, which are generally considered as malignant irrespective of the presentation of images. For this patient, renal tumors occurred in the early disease course, suggesting a high possibility of malignancy.

This patient had multiple lesions except retinal hemangioblastoma, whereas he indicated few of the corresponding symptoms, even without showing a chronic onset and course, which is rare in clinical practice, suggesting that VHL can be highly clinical heterogeneous. Thus, this case should be differentiated from acute inflammation or vascular disease.

Different from typical MRI features of VHL [3], this case showed a form of solid tumors with remarkable enhancement, yet without “flow-empty” phenomena, which should be distinguished from metastatic tumor, abscess, meningioma, vascular tumor, multiple small abscess, diffuse tuberculoma, or Schistosoma granuloma. Since VHL, in general, develops new lesions at about one lesion every 2 years, with known lesions having rapid growth, frequent follow-up MRI examinations seem necessary.

Of the histopathological features of VHL, one is the cytoplasmic vacuole-like structure formed via lipoid phagocytosis of tumor cells, another is plenty of reticular fibers distributed in tumors [4]. For this case, although the lesions had no cystic structure, the pathological findings complied with the typical changes of VHL.

The VHL gene on chromosome 3p25-26 was found in 1993, which acts as a tumor suppressor gene. Series of mutations in VHL have so far been identified. Although the genetic study did not find the mutation, it seemed that the disease might be heterogeneous. Currently we are applying new-generation sequencing technology to identify the novel VHL mutation in this patient for it might be due to a rare variant.

In sum, VHL is a rare multisystem neoplastic syndrome with complicated clinical manifestation. We reported one unique case of VHL with a natural history that mimics acute myelitis. Diagnosis for VHL should be based on combination of clinical, radiological, pathological, and genetic data. Early diagnosis, active radiological and surgical management, and frequent follow-up MRI examinations are critical to prognosis of VHL.


Notes

H. Jiang and Y. Shi contributed equally to this work.

We thank all the participants for their cooperation in this study. This work was supported by the National Natural Science Foundation of China (30971585, 30871354, 30710303061, and 30400262 to H.J.) and the Key Project of Hunan Natural Science Foundation (08JJ3048 to H.J.).

Open Access This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.


References
1.. Maher ER,Yates JR,Harries R,et al. Clinical features and natural history of von Hippel-Lindau diseaseQ J MedYear: 199077115111632274658
2.. Conway JE,Chou D,Clatterbuck RE,et al. Hemangioblastomas of the central nervous system in von Hippel-Lindau syndrome and sporadic diseaseNeurosurgeryYear: 200148556310.1097/00006123-200101000-0000911152361
3.. Ho VB,Smirniotopoulos JG,Murphy FM,et al. Radiologic-pathologic correlation: hemangioblastomaAm J NeuroradiolYear: 199213134313521414827
4.. Weil RJ,Lonser RR,DeVroom HL,et al. Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau diseaseJ NeurosurgYear: 2003989510510.3171/jns.2003.98.1.009512546357
5.. Altinoz MA,Santaguida C,Guiot MC,et al. Spinal hemangioblastoma containing metastatic renal cell carcinoma in von Hippel-Lindau disease. Case report and review of the literatureJ Neurosurg SpineYear: 2005349550010.3171/spi.2005.3.6.049516381215
6.. Jarrell ST,Vortmeyer AO,Linehan WM,et al. Metastases to hemangioblastomas in von Hippel-Lindau diseaseJ NeurosurgYear: 200610525626310.3171/jns.2006.105.2.25617219831

Figures

[Figure ID: Fig1]
Fig. 1 

a Sagittal T2-weighted spine MR image. Two small nodular enhancing lesions with clear boundary at T10 and T12 were indicated (arrows). b Sagittal T1-weighted cranial-cervical MR image. Three oval enhancing lesions with clear boundary at the posterior medullar, the pontine base, and the intramedullary spinal cord at C2 were indicated (arrows). c Axial T1-weighted brain MR image. Two nodular enhancing lesions with clear boundary at the posterior medullar and the right cerebellar hemisphere were indicated (arrows). d Axial T1-weighted kidney MR image. A nodular enhancing lesion with unclear boundary in the lateral cortex of right kidney, as well as a circular-like enhancing lesion in the upper right kidney were indicated (arrows). e Histopathology of the biopsied tissues from VHL patient. Many small blood vessels with a few foam cells, fat-like cells, and fibroblasts were indicated (×400). f Immunohistochemistry assay of the biopsied tissues from VHL patient. GFAP, F8, and Lys-positive cells were indicated (arrow, ×400)



Article Categories:
  • Case Report

Keywords: Keywords Von Hippel–Lindau disease, Hemangioblastoma, Clinical manifestation, Magnetic resonance image, Histopathology.

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