Gorham’s Disease of Cervicothoracic Spine

Rastegar, Khodakaram; Ghandhari, Hasan; Ameri, Ebrahim; Nikouei, Farshad; Shakeri, Mohammadreza

doi:10.32598/JROSJ.6.3.37

Volume 6, Issue 3 (8-2019) JROS 2019, 6(3): 37-42 | Back to browse issues page

‎ 10.32598/JROSJ.6.3.37

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Rastegar K, Ghandhari H, Ameri E, Nikouei F, Shakeri M. Gorham’s Disease of Cervicothoracic Spine. JROS 2019; 6 (3) :37-42
URL: http://jros.iums.ac.ir/article-1-2075-en.html

Gorham’s Disease of Cervicothoracic Spine

Khodakaram Rastegar¹

, Hasan Ghandhari¹

, Ebrahim Ameri¹

, Farshad Nikouei¹

, Mohammadreza Shakeri

1- Bone and Joint Reconstruction Research Center, Shafa Orthopedic Hospital, Iran University of Medical Sciences, Tehran, Iran.

Keywords: Gorham’s disease, Spine, Symptoms, Spinal cord compression

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Abstract

Gorham’s disease is a rare enigmatic bone disorder associated with an obscure osteolysis pattern, as well as a challenging diagnosis and treatment. Particularly, there is a high level of controversy regarding the diagnosis and strategy of treatment in the spinal involvement of Gorham’s disease that generally presents with a kind of spinal deformity. Here, we report a case of Gorham’s disease of the spine manifesting with spinal cord complications and lacking any spinal deformity. The patient was managed through a two-stage spinal cord decompression technique. The symptoms were resolved afterwards and five-year visits did not demonstrate any significant complication. This case reveals that Gorham’s disease of the spine could present with spinal cord complications alone. Accordingly, the strategy of treatment should be established based on the occurrence of spinal cord complications or magnitude of spinal deformity.

Copyright © 2019, Shafa Orthopedic Journal. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

1. Introduction

Gorham’s disease is an extremely rare disorder of the musculoskeletal system with unknown etiology characterized by progressive osteolysis of the involved bones. Until now, nearly 200 cases have been reported in the literature. Clinical manifestations of Gorham’s disease depend on the site of involvement and ranges from a relatively abrupt onset of pain and swelling to the limitation of movement or progressive weakness in the affected limb. Specific patterns of regional osseous destruction investigated on the radiographs and computed tomography (CT) scanning could enable physicians to suspect the diagnosis of Gorham’s disease. A bone scan may demonstrate increased uptake in regions with new vascularity and decreased uptake corresponding to the site of diminished osseous tissue. Although anti-osteoclastic medications (bisphosphonates) and interferon alfa-2b are used for the treatment of this disease, radiation therapy and/or surgery are considered as the main treatment modalities. The surgery includes resection of the lesion, and reconstruction using bone grafts or prostheses (1, 2).

Spinal involvement in Gorham’s disease occurs very rarely and usually is associated with a poor prognosis, mostly leading to progressive kyphosis, scoliosis, subluxation and even dislocation of the spine. Spinal cord compression may cause neurological deficits which highly complicates the diagnosis of the lesion. In case of an unstable spine or severe kyphosis, surgical decompression and stabilization are the available options, although not encouraging, mainly due to the underlying osteoclastic process of the vertebra. Moreover, multiple revision surgeries may be required to achieve spinal stability (3, 4). Accordingly, the treatment of Gorham’s disease of the spine, as well as its diagnosis have become a challenge for spine surgeons.

In this report, we aim to illustrate the management of Gorham’s disease of the spine in a 30-year-old male, initially presenting with spinal cord complications, lacking any spinal deformity.

2. Case Presentation

A 30-year-old male was referred to our center with a history of Gorham’s disease of the arm that was diagnosed and confirmed four years earlier. The patient presented with progressive cervical pain, numbness, and motor weakness in lower limbs from four months ago. He was not able to walk and control his urine and stool. At the clinical examination, hypoesthesia was discovered at the T6 root distribution and was extended to the bottom the distal part. The patient was completely paraplegic. Bilateral clonus was positive and a severe spasticity was present in the lower left limb. Bilateral Babinski test was upward. No motor and sensory impairment were noticed at the examination of upper left limbs. At the evaluation of upper right extremity, the patient was unable to move his shoulder and elbow. The shoulder abduction and elbow flexion were both 0/5. The movement of the wrist and fingers were normal (wrist extension, finger flexion and finger abduction all 5/5). Deep tendon reflexes (DTR) examination was 2+. Hoffman’s test was negative.

In the radiographic evaluation of the spine, bone destruction was detected in the C7-T1 region (Figure 1). A mixed signal pattern consisting of hyper and hypo-intense areas was also identified in the T2-weighted MRI of the same region along with minimal pressure on the cord (Figure 2). Whole body scintigraphy revealed an increased uptake in the lower cervical vertebrae and the upper thoracic vertebrae (Figure 3). Based on the imaging findings, an idiopathic lytic lesion such as Gorham’s disease was suspected in the C7-T1 region that was compressing the spinal cord. Accordingly, anterior cervical corpectomy and fusion was planned to decompress the spinal cord. The patient underwent anterior sternotomy associated with C7-T1 corpectomy to achieve cord decompression. Fibular autograft was implemented at the corpectomy site. The excised sample was sent to the pathology department for histologic examination.

Figure 1. Anteroposterior radiograph of the spine showing the bone destruction in the C7-T1 region

Figure 2. T2-weighted MRI showing a mixed pattern of hyper and hypo-intense signal identified at C7-T1 region and minimal pressure on the spinal cord

Figure 3. Bone scan of the spine showing an increased uptake in the lower cervical vertebrae and the upper thoracic vertebrae

Four days after the surgery, the movement and muscle force of left lower limb were improved (approximately 3/5), but no improvement was observed on the right side. Eight days after the surgery, right ankle dorsiflexion occurred. Subsequently, the patient underwent a second operation two weeks after the index surgery. At the prone position, laminectomy of C7-T1 vertebrae was performed and bilateral pedicular screws were applied in T2, T3, T4 vertebrae. Lateral mass screws were also placed at both sides of C4, C5, C6 vertebrae, and posterior spinal fusion was carried out by introducing two rods. Pathology report included the expansion of marrow spaces that were filled by numerous small and large vascular channels accomplished with flat ends and the endothelial linings, suggestive of the angiomatosis and Gorham’s disease (Figure 4).

Figure 4. Histologic slides showing the expansion of marrow spaces filled by numerous small and large vascular channels with flat end and the endothelial linings (A) ×10; (B) ×20

The patient was discharged with good general health, wearing a Minerva brace. The rehabilitation process was initiated subsequently which included the range of motion and stretching exercises. Nowadays, the patient is able to walk without the crutch. Left lower limb motion, in addition to the left L2, L3, L4, L5, and S1 nerve roots function were at their normal strength and no sensory impairment was present. The force of right side hip flexors was approximately 3/5, but the force of ankle dorsiflexors was great. The force of knee extension was about 4/5. Hypoesthesia was present at the right lower limbs from the knee to the distal end. The patient regained his urine and stool control. Final follow-up radiographs of the patient revealed the fusion mass obtained by the fixation of lateral copper screws at C4, C5, C6 and bilateral pedicular screws at T2, T3, T4 vertebrae those were connected with rods (Figure 5).

Figure 5. (A) lateral and (B) anteroposterior radiograph of the patient seven years after the final surgery showing fixation of lateral screws at C4, C5, C6 and bilateral pedicular screws at T2, T3, T4 vertebra. The fibular autograft which is fixed with two screws in corpectomy site (C7, T1) is also visible.

3. Discussion

Gorham’s disease is an enigmatic bone disease with a difficult diagnosis and management. The diagnosis and treatment of Gorham’s disease are even more challenging in the spine. Although the majority of patients represent with spinal deformity, some patients might present with the spinal cord compression symptoms alone. The treatment of the Gorham’s disease of the spine could also get complicated with multiple revision surgeries to achieve spinal stability. At the same time, the surgeon should observe other complications of spinal cord injury such as deep vein thrombosis, heterotopic ossification, and autonomic dysfunction (4).

In this report, we presented a case of Gorham’s disease of spine primarily manifesting with spinal cord compression symptoms and without any spinal deformity. Complementary imaging and histologic investigations led to the diagnosis of Gorham’s disease of the spine. The patient’s symptoms almost resolved after the surgical resection of the lesion and rehabilitation exercises.

To date, nearly 28 cases of Gorham’s disease of the spine have also been reported in the literature (3). Barman et al. reported two cases of Gorham’s disease of the spine. One of their patients was a 23-year-old male that was referred with spinal cord compression symptoms including weakness of lower limbs, spasticity, impaired sensations, impaired bladder-bowel control, as well as a history of Gorham’s disease at the age of three. Multiple revision surgeries were performed for this patient to ensure spinal stability. The second patient was a 15-year-old boy who presented with progressive spinal deformity since eight years ago, back pain for three months, complete weakness of lower limbs, and bowel-bladder incontinence (4). This patient was also managed surgically.

Aizawa et al. reported a case of Gorham’s disease of the spine in a 10-year-old boy referred with back pain and spinal deformity. At the neurologic examination, muscle weakness was found at the left great toe. The patient had a high fever and increased white blood cell count and C-reactive protein. The definitive diagnosis of Gorham’s disease was made through the open biopsy and histologic examination. Treatment was started with bisphosphonate. Yet, the patient underwent surgery for progressive kyphosis (3).

Sekharappa et al. also reported two cases of Gorham’s disease of the spine, both presenting with the spinal deformity and spinal cord compression symptoms. The lesion was resected surgically and the symptoms disappeared in both patients after the rehabilitation period (5).

Even in the presence of spinal deformity or spinal cord compression symptoms, the diagnosis of Gorham’s disease should only be suspected after excluding the other common underlying causes of osteolysis including aneurysmal bone cyst, extensive metastatic bone disease, and osteosarcoma that may resemble vanishing bone disease. Moreover, appropriate blood tests and radiographic studies should be done to rule out other common underlying causes of osteolysis such as infection, inflammatory or endocrine disorders (6, 7).

The natural history of Gorham’s disease is unpredictable and spontaneous regression has been reported (8, 9). Aizawa et al. proposed that if the affected vertebrae show no deformity such as kyphosis, radiotherapy and/or medication should be chosen as the initial treatment (3). Yet, our case indicates that spinal cord compression could be the initial presentation of Gorham’s disease of the spine, necessitating performance of surgical decompression surgery. Thus, we recommend basing the treatment option on the spinal cord compression symptoms, as well as spinal deformity.

3.1. Conclusions

Gorham’s disease of the spine is an enigmatic bone disorder with obscure osteolysis pattern. Although many patients present with spinal deformity, some patients, the disease could manifest with spinal cord compression symptoms alone. The treatment approach should be based on either spinal deformity or the spinal cord compression symptoms, as the patients without spinal deformity still may require a spinal cord decompression surgery.

Footnotes

References

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Type of Study: Case Report | Subject: Knee surgery
Received: 2018/12/20 | Accepted: 2019/07/6 | Published: 2019/08/1

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