Spinal Gorham-Stout syndrome: radiological changes and spinal deformities

Abstract

Background: Gorham-Stout syndrome (GSS) involving the spine is a rare clinical entity, and there is a paucity of comprehensive study on its radiological features. We aimed to present the radiological changes and spinal deformities in patients with spinal GSS. Methods: From January 2005 to December 2017, 11 consecutive GSS patients with spinal deformity were identified. Their medical records and imaging features were retrospectively reviewed. Computed tomography (CT) and magnetic resonance imaging (MRI) were used for a precise evaluation of spinal involvement. Posteroanterior and lateral standing radiographs were used to evaluate the spinal deformity. Results: CT showed multi-level generalized osteolytic lesions, with ill-defined fluid attenuation adjacent to the osseous changes. MRI demonstrated hyperintense signals on both T1-and T2-weighted images, while the unaffected segments showed normal signal intensity. Seven patients (63.6%) had a dominant feature of kyphosis, and 4 (36.4%) had scoliosis when spinal GSS was diagnosed. Kyphosis variably spanned from C7 to L1, averaged 94° (range, 53° to 158°), and was associated with sagittal imbalance in 4 cases. In our series, the apex of kyphosis and scoliosis coincided within the most seriously osteolytic segment. All patients received medication for GSS. Two adolescents taking Boston braces showed a relatively stable deformity. Four patients received long posterior spinal fusion, but two had fusion failure. Conclusions: CT and MRI investigations are important in the initial diagnosis and continued management for spinal GSS. A typical spinal deformity secondary to GSS presents as kyphosis or kyphoscoliosis, which is usually highly variable but highly concordant with osteolysis in terms of span and apex.

Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review

“…Symptoms presented in GSD include localized pain, swelling, weakness and functional impairment of affected limbs, respiratory distress and failure, neurological defects, deformity, and paralysis [ 6 ]. The clinical features of osteolysis are non-specific, and often GSD patients with vertebral involvement enter medical service when a pathological vertebral fracture or a symptomatic vertebral deformity occurs [ 19 , 20 ]. At the time of onset, our patient had a pathological fracture of the C7 vertebra and the manifestations were significant: bone pain, weakness, myalgia, febrile syndrome, and an incomplete motor deficit in the upper limbs.…”

Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment

“…Radiograph or CT shows lytic or lace-like lucent lesions in the affected bone, with associated cortical destruction and progressive bone loss (Fig. 10) [44][45][46]. The progressive bone loss may lead to the appearance of "vanishing bone" or a "sucked candy" appearance of affected long bones, with the bone becoming tapered at one end [47].…”

“…MRI may also demonstrate extension of the LM into the soft tissue, which typically appears T2-hyperintense and infiltrative, with associated enhancement, although the soft tissue component may appear heterogeneous. T2-hypointense components may be present, attributed to increased fibrous tissue content [35,44,46,48]. Patients may also have pleural effusions or splenic lesions, accounting for the clinical overlap with GLA.…”

Current concepts from diagnosis to management in Gorham–Stout disease: a systematic narrative review of about 350 cases

“…Spinal lesions can also be managed surgically if the lesion leads to spinal instability, deformity or pain. Posterior spinal stabilization with screws and rods associated with decompression, or anterior stabilization with plate and screws to induce vertebral fusion, can be used in the most severe cases of cervical and thoracic deformities (101,115,117,144,145,146,147,148,149). The use of vertebroplasty has to be considered when the spine is involved, but the osteolytic lesion does not lead to severe deformity or to major instability (98,137).…”