A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB—golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin that maps to chromosome 1q24. The encoded protein has a function in the secretory pathway, was identified by terminal kinase-like protein, and thus, it may function in mitosis. Mutations in this gene have been associated with GO. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. Mutations, a homozygous frameshift mutation (c.306dup p.(pro 103 Thrfs*20)). Interestingly, phenotypic variability was observed in this patient with GO features that were more atypical than the cases reported in the literature as he looks tall stature where most of the cases reported were short and arachnodactyly fingers which mimic other syndromes.

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB - golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin. That maps to chromosome 1q24. The encoded protein has a function in the secretory pathway. Was identified by-teIrminal kinase-like protein, and thus it may function in mitosis? Mutations in this gene have been associated with geroderma osteodysplastica. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. mutations, a homozygous Frameshift mutation (c.306dup p.(pro 103 Thrfs*20). Interestingly, phenotypic variability was observed in this patient with GO features that were atypical than the cases reported in the literature. As he looks tall stature where the most of cases reported were short and arachnodactyly of fingers which mimic and other syndromes.

Role of Diffusion Weighted Imaging in Differentiating Benign from Pathological Vertebral Compression

Background Vertebral collapse is a common problem due to benign conditions (trauma, infection, osteoporosis) or malignant process. And although the spine is the most common site of bone metastases (39% of bony metastases in patients with primary neoplasms) benign vertebral fractures due to osteopenia occur in one third of cancer patients, making it essential to determine whether the cause of vertebral collapse is benign or malignant. Aim of the Work To establish the role of DWI in differentiating benign from pathologic vertebral fractures using ADC values in comparison with histopathology report /laboratory evaluation and clinical follow-up. Patients and Methods A cross sectional study is approved by the ethics review board of Ain Shams University Hospital (Al Demerdash). All patients provided informed consent for the MR imaging examinations and for inclusion of their data in this analysis. From April 2020 to october 2020, 25 cases with previous imaging with vertebral compression underwent conventional MRI study on the affected region. Diffusion weighted imaging and ADC was added. Results We performed DWI using maximum b-values 600, and quantitative analysis, named apparent diffusion coefficient (ADC). We correlated the ADC number to histopathology, laboratory finding and clinical follow up. In our study there was significant difference (p < 0.04) between DWI of the benign and malignant groups. Also the ADC value showed significant difference <0.001. The mean ADCs of benign VCFs were higher significantly than those of pathological fractures. Conclusion DWI with ADC value was helpful when added to conventional MRI to differentiate benign from pathological (malignant) vertebral compression. It should be a routine sequence in patients with vertebral compression fractures for accurate diagnosis and successful management also can decrease no of biopsies.

Clinical and imaging features of surgically treated low lumbar osteoporotic vertebral collapse in patients with Parkinson’s disease

Osteoporosis and Parkinson’s disease (PD) are age-related diseases, and surgery for osteoporotic vertebral collapse (OVC) in PD patients become more common. OVC commonly affects the thoracolumbar spine, but low lumbar OVC is frequent in patients with lower bone mineral density (BMD). The aim of this study was to identify differences in clinical and imaging features of low lumbar OVC with or without PD and to discuss the appropriate treatment. The subjects were 43 patients with low lumbar OVC below L3 who were treated surgically, including 11 patients with PD. The main clinical symptoms were radicular pain in non-PD cases and a cauda equina sign in PD cases. Rapid progression and destructive changes of OVC were seen in patients with PD. The morphological features of OVC were flat-type in non-PD cases with old compression fracture, and destruction-type in PD cases without old compression fracture. Progression of PD was associated with decreased lumbar lordosis, lower lumbar BMD, and severe sarcopenia. High postoperative complication rates were associated with vertebral fragility and longer fusion surgery. Progression of postural instability as a natural course of PD may lead to mechanical stress and instrumentation failure. Invasive long-fusion surgery should be avoided for single low lumbar OVC.

Biportal endoscopic posterior lumbar decompression and vertebroplasty for extremely elderly patients affected by lower lumbar delayed vertebral collapse with lumbosacral radiculopathy

Background Lower lumbar osteoporotic vertebral compression fracture in extremely elderly patients can often lead to lumbosacral radiculopathy (LSR) due to delayed vertebral collapse (DVC). Surgical intervention requires posterior instrumented lumbar fusion as well as vertebral augmentation or anterior column reconstruction depending on the cleft formation and intravertebral instability. However, it is necessary to decide on surgery in consideration of the patient’s frail status, surgical invasiveness, and rehabilitation. In the lower lumbar DVC without intravertebral instability, biportal endoscopic posterior lumbar decompression and vertebroplasty (BEPLD + VP) can be simultaneously attempted. This study aimed to assess the clinical outcomes of BEPLD + VP for the treatment of DVC-related LSR. Methods This retrospective case series enrolled 18 consecutive extremely elderly (aged ≥ 75-year-old) patients (6 men and 12 women) who had lower lumbar (at or below L3) DVC-related LSR. Patients who require anterior column reconstruction, such as cleft formation accompanied by intravertebral instability and patients who have not been followed for more than 6 months, were excluded from this study. All patients underwent BEPLD + VP under epidural anesthesia. Clinical results were evaluated by the visual analog scale (VAS) score and the modified Japanese Orthopedic Association (mJOA) scores. Results Most of the patients had DVC affecting level L4, with the deformation being a flat type or concave type rather than a wedge type. The VAS score (back and leg) significantly decreased from 7.78 ± 1.17 and 6.89 ± 1.13 preoperatively to 2.94 ± 0.64 and 2.67 ± 1.08 within 2 postoperative days (p < 0.001). The mJOA score significantly improved from 4.72 ± 1.27 preoperatively to 8.17 ± 1.15 in the final follow-up (p < 0.001). The mean recovery rate (RR) in the last follow-up was 56.07% ± 9.98. Incidental durotomy was reported in two patients and epidural hematomas in another two patients; however, all patients improved with conservative treatment, and no re-operation was required. Conclusions BELPD + VP was a type of salvage therapy that reduces surgical morbidity, requires major spine surgery under general anesthesia and provides good clinical outcomes in extremely elderly patients with DVC-related LSR.

POS1280 SPINAL LOCATION OF TUBERCULOSIS: WHAT HAS CHANGED OVER THE LAST YEARS?

Background:Tuberculosis (TB) is no longer a disease limited to developing nations and is still a major cause of significant morbidity and mortality worldwide. It can affect the different parts of the spine.Objectives:The aim of this study was to determine the preferred spinal location of TB.Methods:We conduct a retrospective and descriptive study in a single rheumatology department. Data were collected from observations of patients hospitalized in the past 20 years (2000-2020) who have been diagnosed with tuberculous spondylodiscitis (TS).Results:Fifty-two patients were included (37F/15M). Their mean age was 55.21 years ± 17.79 [19-91]. TS was more frequently unifocal (75%) than multifocal (25%). Lumbar spine involvement was the most common (57.7%) and more frequent in women (63.3%) but with no statistically significant difference (p = 0.2). Other localizations were described such as: dorso-lumbar (21.2%), dorsal (15.4%), lumbosacral (3.8%) and cervical (1.9%). Lumbar pain was present in 34 patients (65.4%) and 29 patients (55.8%) suffered from segmental lumbar stiffness. Imaging was contributive by showing the vertebral location using standard X-rays, computed tomography and magnetic resonance imaging. Disc pinch, erosion of vertebral plateaus and vertebral collapse were the major signs (82.7%, 65.4% and 67.3%, respectively).Conclusion:TS is a rare but serious clinical condition which may lead to severe deformity and early or late neurological complications. Spinal involvement is often unifocal and mostly diagnosed with lumbar pain or stiffness. Multifocal forms, touching several parts of the spine, however remain rare. Our findings remain consistent with those of the literature.Disclosure of Interests:None declared

A Case Report of Hyperphosphatasia Treated with Pamidronate

Background: Hereditary hyperphosphatasia is a congenital and rare disease with high bone turn over. The disease is defined with extremely elevated alkaline phosphatase levels. Neonates with hyperphosphatasia are normal at birth but develop progressive long bone deformities, fracture, vertebral collapse, skull enlargement due to massively thickened calvarium, and deafness. Case Presentation: Here, we described a male patient with progressive deformity in limbs and pain during walking that onset of symptoms was from age of two. The patient admitted to the Shahid Sadoughi Hospital, Yazd, was born from a non-consanguineous marriage. He was treated with pamidronate until halt of the disease progression and followed up for 18 months. Conclusion: Bisphosphonate is the treatment of choice for hyperphosphatasia because it can normalize bone turnover, improve growth rates, and skeletal quality.

Minimally invasive anteroposterior combined surgery using lateral lumbar interbody fusion without corpectomy for treatment of lumbar spinal canal stenosis associated with osteoporotic vertebral collapse

OBJECTIVE Various reconstructive surgical procedures have been described for lumbar spinal canal stenosis (LSCS) with osteoporotic vertebral collapse (OVC); however, the optimal surgery remains controversial. In this study, the authors aimed to report the clinical and radiographic outcomes of their novel, less invasive, short-segment anteroposterior combined surgery (APCS) that utilized oblique lateral interbody fusion (OLIF) and posterior fusion without corpectomy to achieve decompression and reconstruction of anterior support in patients with LSCS-OVC. METHODS In this retrospective study, 20 patients with LSCS-OVC (mean age 79.6 years) underwent APCS and received follow-up for a mean of 38.6 months. All patients were unable to walk without support owing to severe low-back and leg pain. Cleft formations in the fractured vertebrae were identified on CT. APCS was performed on the basis of a novel classification of OVC into three types. In type A fractures with a collapsed rostral endplate, combined monosegment OLIF and posterior spinal fusion (PSF) were performed between the collapsed and rostral adjacent vertebrae. In type B fractures with a collapsed caudal endplate, combined monosegment OLIF and PSF were performed between the collapsed and caudal adjacent vertebrae. In type C fractures with severe collapse of both the rostral and caudal endplates, bisegment OLIF and PSF were performed between the rostral and caudal adjacent vertebrae, and pedicle screws were also inserted into the collapsed vertebra. Preoperative and postoperative clinical and radiographical status were reviewed. RESULTS The mean number of fusion segments was 1.6. Walking ability improved in all patients, and the mean Japanese Orthopaedic Association score for recovery rate was 65.7%. At 1 year postoperatively, the mean preoperative Oswestry Disability Index of 65.6% had significantly improved to 21.1%. The mean local lordotic angle, which was −5.9° preoperatively, was corrected to 10.5° with surgery and was maintained at 7.7° at the final follow-up. The mean corrective angle was 16.4°, and the mean correction loss was 2.8°. CONCLUSIONS The authors have proposed using minimally invasive, short-segment APCS with OLIF, tailored to the morphology of the collapsed vertebra, to treat LSCS-OVC. APCS achieves neural decompression, reconstruction of anterior support, and correction of local alignment.