Progressive infiltrative destruction of subcutaneous and periosteum soft tissues affect posterior spinal surgery for primary Gorham-Stout disease: a case report

doi:10.21203/rs.3.rs-3231317/v1

Download PDF

Case Report

Progressive infiltrative destruction of subcutaneous and periosteum soft tissues affect posterior spinal surgery for primary Gorham-Stout disease: a case report

https://doi.org/10.21203/rs.3.rs-3231317/v1

This work is licensed under a CC BY 4.0 License

Version 1

posted

You are reading this latest preprint version

Background: Gorham-Stout disease (GSD) with involvement of the spine is extremely rare, the course of disease is hard to predict. The progressive osteolysis would result in kyphosis, kyphoscoliosis, subluxation or even dislocation of the spine. There is also destructive infiltration of adjacent and periosteum soft tissue, which may potentially raises difficulties to posterior spinal procedure. This adverse affection is hard to evaluate from routine imageological examinations.

Case presentation: We surgically managed a 29-year-old female patient with primary GSD which involved lumbar spine and caused regional kyphoscoliotic deformity since 2018. We initially performed posterior short-segmental fixation to correct the regional deformity. Twenty five months after the first spinal surgery, the fixation was failed and the deformity was progressed. During the last spinal revision surgery, we observed diffusive hemangiectasis of periosteum and adjacent soft tissues. Due to the massive hemorrhage, we simplified the procedure by performing unilateral fixation and lateral fusion. The patient was followed for 27 months. Fortunately, owing to the reliable bony fusion and spontaneous arrest of osteolysis, we observed satisfactory clinical results, the deformity remained unchanged.

Conclusion: In primary GSD patient with involvement of multiple vertebrae, the affection of infiltrative destruction of periosteum and adjacent soft tissue on posterior spinal surgery is underestimated. Huge hemorrhage would cause big trouble during the procedure, surgeon should be aware of this phenomenon. Scrutinizing the preoperative images may potentially assist the surgeons to predict this phenomenon. Advanced examinations should be considered to avoid embarrassing situation when this affection is unidentifiable.

primary Gorham-Stout disease

idiopathic osteolysis

spinal deformity

lymphangiomatosis

diffusive hemangioma

Gorham-Stout disease (GSD) is a rare disease characterized by progressive or acute skeletal lysis and resorption, which may lead to limb dysfunction or even life-threatening celiac or pleural effusion. GSD is firstly introduced by Gorham and Stout in 1955 based on the research of 24 cases with idiopathic osteolysis [1]. GSD has been classified as one of the five idiopathic osteolysis diseases [2]. Primary involvement of the spine is rare [3], and presently, only about 60 cases were reported [4].

The underlying pathophysiology is still poorly understood due to its rarity. Treatment of this rare disease including diet instruction, medications (e.g. bisphosphonates, sirolimus), radiotherapy and surgery [5, 6]. For patients with spinal instability, deformity, and neurological impairment resulting from pathological fracture, surgical intervention, when possible, provides the best chance for cure.

It has been reported that about 94.7% of patient with GSD will suffer infiltrative soft tissue abnormality [7]. Non-neoplastic, destructive infiltration of adjacent and periosteum soft tissue or musculature may occurred in multi-segmental involvement of vertebrae [3], which will bring big troubles to a planned spinal procedure through posterior approach. This clinical phenomenon may be predictable from preoperative image, however, the adverse affection of which on clinical practice is underestimated. To the best of our knowledge, this is the first report regarding this kind of affection.

A 29-year-old female without trauma and past history initially visited our hospital in 2018. She complained swelling of perineum and right leg for 5 years, accompanied by back pain for 3 years. On physical check, she had moderate back tenderness, visual analogue scale (VAS) was 5 points. No sign of neurological impairment was found. Laboratory studies (routine blood tests, blood sedimentation, blood lipids, liver function, kidney function, parathyroid function, thyroid function, vitamin D, blood tumor markers, tuberculin test, brucella agglutination test, calcium, phosphorus, magnesium, urine routine, 24 h urine calcium, 24 h urine phosphorus, blood immunoelectrophoresis, and urine immunoelectrophoresis) were within normal range, no evidence of an inflammatory, neoplasm or infectious disease was found. Magnetic resonance imaging (MRI) of pelvic and right leg revealed multiple high-intensity signal among abdomen pelvic cavity, bilateral perineum, pubis, illium and left femoral head on T2 weighted imaging, which were considered to be diffuse lymphangioma and lymphangiectasis. The X-ray and computed tomography (CT) of spine showed multiple osteolysis of multiple vertebrae and kyphoscoliotic deformity. The lung CT was normal [Figure 1].

On the basis of acquired information, we initially diagnose this patient to be primary GSD. On account of the absence of major deformity and spinal imbalance, we chose to perform percutaneous pedicle screw fixation on this patient. Her back pain ameliorated after surgery, VAS was 3 points. Postoperative X-ray of lumbar spine showed the kyphoscoliosis deformity was corrected [Figure 2]. 5mg of diphosphonate was intravenously applied.

Two months later, the patient visited our hospital again for aggravated swelling of leg and chyluria, which suggested continuous compression of lymphocinesia. The patient underwent the second time surgery to resect the lesions derived from and retroperitoneum (bilateral external iliac and renal pedicles). The corresponding author participated in this surgery for providing anterior support by intervertebral fusion. The intraosseous lesion of L3 vertebra was curetted, L3/4 intervertebral disc was removed. Morselized ilium bone was grafted into the intraosseous cavity, L3/4 intervertebral space, and anterior L2, 3, 4 vertebra on the concave side of scoliosis after decortication. The histopathological and immunohistochemical results confirmed that lymphatic-derived endothelial cells were positive for D2-40 staining, which supported the clinical diagnose of GSD [Figure 3].

Twenty five months after the first spinal surgery (23 months after the second surgery), the patient visited our department again with severe back pain for 1 month, which was irresponsive to painkillers, the VAS was 7 points. She denied any kind of trauma. The X-ray of lumbar spine revealed failure of fixation and aggravated kyphoscoliotic deformity. The CT of lumbar spine revealed interbody fusion of L3/4 and bony union of L3/4, L4/5 facet joints [Figure 4]. Larger range of high intensity signals among subcutaneous soft tissues and periosteum musculature on coronal, sagittal, and cross-sectional view of T2 weighted image can be observed when comparing that from previous image [Figure 5].

We planed to correct the kyphoscoliotic deformity by retrieving the previous hardwares and fixing the lumbar spine from L1 to L5 through posterior approach. However, after cutting open the skin, we found diffusive hemangiectasis and hemangioma among subcutaneous tissues and paraspinal muscles, which led to massive blood loss during the exposure process. After retrieving the screws of L2 vertebra, the volume of blood loss was up to 1500 cc. It seemed like we were performing the surgery in a pool of blood. In consideration of patient’s safety, we left the L4 screws in-situ, and performed a unilateral fixation on the concave side of scoliosis. Autograft which harvest from ilium was performed on denuded facet joints in an “on-lay” fashion.

Her back pain alleviated after surgery, the VAS was 3 points. She was asked to wear rigid brace during off-bed activities for 3 months. During the 27-month follow-up, she reported continuous relief of back pain, leg swelling and dyspnea. Two years after the last surgery, the kyphoscoliosis maintain steady on radiographic evaluation, no new-onset osteolysis was found [Figure 6].

Gorham-Stout disease, otherwise known as massive osteolysis or vanishing bone disease, is a rare and destructive condition that involves the spontaneous local resorption of bony structures that are replaced by fibrous tissue. In this case, we diagnosed the patient to be primary GSD, which is characterized by multifocal (averaged 4.9 bones), non-contiguous lesions, and is free from prior trauma or an inciting event [8]. In contrast, the secondary GSD can be traced back to a clear-cut precipitating and preceding injury resulted in lesions that remained focal, with spread limited to contiguous bones and no distant sites of disease. Clinically classifying this disease by a traceable trauma history is easy and practical, and is also meaningful for the prediction of prognosis and possible life-threatening complications.

Several case reports have demonstrated that long-segmental posterior instrumentation with decompression, osteotomy, intervertebral fusion and anterior support is effective for the GSD patients with significant spinal deformity and neurological impairment [3, 9, 10]. In this case report, the patient presented with mild regional deformity, spontaneous fusion adjacent to the site of osteolysis, and free from neural impairment at the first visit, thus we initially chose to performed a percutaneous posterior with pedicle screws to preserve the posterior stabilizers. Even we performed interbody fusion during the second surgery, fixation failure still occurred 25 months after the first spinal surgery. Due to the spontaneous arrest of osteolysis progression and two-time fusion attempt, we observed this patient obtained satisfactory clinical results with 27-month follow-up. In view of the possibility of progressive nature in most of primary GSD, one-stage posterior fixation with reliable fusion and anterior support is still the golden standard for cure.

Soft tissue infiltration adjacent to the site of skeletal involvement have been previously reported in case reports of GSD [11]. Shailee et al. described that 94.7% of patient with GSD suffered infiltrative soft tissue abnormality [7]. However, among the published cases who were successfully managed with long-segmental fixation through posterior approach, the adverse affection of this relevant soft tissues abnormality on surgery has not yet been described. In this case, abnormalities among subcutaneous and periosteum soft tissues or musculature were observed before the first spinal surgery. However, those were not found during the first spinal procedure. Before the last surgery, we observed the range of this abnormality is wider on T2 weighted MR image. During the last surgery, we accidentally encountered diffusive hemangiectasis among the subcutaneous tissues and musculature. The huge hemorrhage forced us to change the primary surgical plan. In our opinion, routine CT or MRI examination is possibly not always reliable to identify this relevant infiltrative abnormality. According to the recent studies, further diagnostic methods, such as contrast-enhanced MRI, dynamic contrast-enhanced MR lymphangiography, even biopsy should be considered to determine the extent of this abnormality [12]. Moreover, surgical approach should be chewed over if the affection is unidentifiable.

Though there are increasing reports of successfully managing spine-involved GSD with surgery through posterior approach, the adverse affection of infiltrative destruction of periosteum and adjacent soft tissue on surgical procedure is underestimated. Surgeon should be aware of this phenomenon. Scrutinizing the preoperative MRI may be valuable for predicting this phenomenon. Advanced examinations should be considered when this affection is unidentifiable.

GSD	Gorham-Stout syndrome
MRI	magnetic resonance imaging
CT	computed tomography
VAS	visual analogue scale

Ethics approval consent to participate: We confirmed that all methods were carried out in accordance with relevant guidelines and regulations. This study was approved by the medical ethics committee of Beijing Shijitan Hospital of Capital Medical University. The reported patient had written informed consent before participating this study.

Consent for publication: Written informed consent has been obtained from the patient for publication of this case report and any accompanying images.

Availability of data and materials: The data analyzed during the current study are available from the corresponding author on reasonable request.

Competing interests: The authors declare that they have no competing interests.

Funding: Not applicable.

Authors' contributions:

LX.D and JP. S designed, instructed this study; the treatment program of this patient was designed by LX. D and JP. S; the first, second and third time surgery were performed by LX. D and JP. S.

Y. Z followed the patient, participated in the third time surgery, wrote and revised the manuscript.

WC. L and Y. Z participated in the artworks production and proof of this manuscript.

All authors read and approved the final manuscript.

Acknowledgements: Not applicable.

Barman A, Bhide R, Viswanathan A, George J, Thomas R, Tharion G. Gorham's disease of the spine. NeuroRehabilitation. 2013;33(1):121–6.
Hardegger F, Simpson LA, Segmueller G. The syndrome of idiopathic osteolysis. Classification, review, and case report. J Bone Joint Surg Br. 1985;67(1):88–93.
Maillot C, Cloche T, Le Huec JC. Thoracic osteotomy for Gorham-Stout disease of the spine: a case report and literature review. Eur Spine J. 2018;27(9):2285–90.
Renacci RM, Bartolotta RJ. Gorham disease: lymphangiomatosis with massive osteolysis. Clin Imaging. 2017;41:83–5.
Aizawa T, Sato T, Kokubun S. Gorham disease of the spine: a case report and treatment strategies for this enigmatic bone disease. Tohoku J Exp Med. 2005;205(2):187–96.
Heyd R, Micke O, Surholt C, et al. Radiation therapy for Gorham-Stout syndrome: results of a national patterns-of-care study and literature review. Int J Radiat Oncol Biol Phys. 2011;81(3):e179–85.
Lala S, Mulliken JB, Alomari AI, Fishman SJ, Kozakewich HP, Chaudry G. Gorham-Stout disease and generalized lymphatic anomaly–clinical, radiologic, and histologic differentiation. Skeletal Radiol. 2013;42(7):917–24.
Olea-Mendoza D, Terrigno VR, Balogun A, Caprio C. Gorham-Stout disease: interesting cause of pleural effusion. BMJ Case Rep. 2021;14(3):e239891.
Kim JH, Yoon DH, Kim KN, Shin DA, Yi S, Kang J, Ha Y. Surgical Management of Gorham-Stout Disease in Cervical Compression Fracture with Cervicothoracic Fusion: Case Report and Review of Literature. World Neurosurg. 2019;129:277–81.
Suero Molina EJ, Niederstadt T, Ruland V, Kayser G, Stummer W, Ewelt C, Rössler J. Cerebrospinal fluid leakage in Gorham-Stout disease due to dura mater involvement after progression of an osteolytic lesion in the thoracic spine. J Neurosurg Spine. 2014;21(6):956–60.
GORHAM LW, WRIGHT AW, SHULTZ HH, MAXON FC Jr. Disappearing bones: a rare form of massive osteolysis; report of two cases, one with autopsy findings. Am J Med. 1954;17(5):674–82.
Lee Y, Lee S, Hur S, Jeong YS, Suh DI, Moon J, Kim MJ, Choi YH, Cheon JE. The spectrum of imaging manifestations of Gorham-Stout disease: a novel dynamic contrast-enhanced MR lymphangiography. Orphanet J Rare Dis. 2023;18(1):96.

No competing interests reported.

Download PDF

Version 1

posted

You are reading this latest preprint version

Progressive infiltrative destruction of subcutaneous and periosteum soft tissues affect posterior spinal surgery for primary Gorham-Stout disease: a case report

Status:

Version 1

Abstract

Figures

Introduction

Case presentation

Discussion and Conclusions

Abbreviations

Declarations

References

Additional Declarations

Status:

Version 1