scholarly journals Bone densitometry measurements in children with neurofibromatosis Type 1 using quantitative computed tomography

Author(s):  
O Tezol ◽  
Y Balcı ◽  
M Alakaya ◽  
B Gundogan ◽  
EC Cıtak

Introduction: Neurofibromatosis type 1 (NF 1) is an autosomal dominant neurocutaneous disease characterised by multisystemic involvement, including bone tissue. Deformities and reduced bone mass are the main bone manifestations in NF1. Quantitative computed tomography (QCT) provides true volumetric bone mineral density (BMD) measurement. This study aimed to evaluate bone metabolism parameters and BMD in children with NF1 using QCT. Methods: The data of 52 paediatric NF1 patients (23 female, 29 male) was evaluated retrospectively. We investigated anthropometric measurements, biochemical parameters like total calcium, phosphate, magnesium, alkaline phosphatase, 25-hydroxyvitamin D (25OHD), parathyroid hormone, calcitonin, urinary calcium/creatinine ratio, and QCT parameters like lumbar trabecular and cortical BMD, trabecular area and cortical thickness. Comparisons of gender and puberty status were performed. Results: 25% of patients had skeletal deformities and 42.3% had 25OHD inadequacy (< 20 ng/mL). The frequency of 25OHD inadequacy was significantly higher in pubertal/postpubertal patients than prepubertal patients (61.9% vs. 29.0%, p = 0.019). Trabecular BMD Z-score was < −2.0 in 11.5% of patients; all with low BMD were at the pubertal/postpubertal stage. There was a significant negative correlation between age and trabecular Z-score (r = −0.41, p = 0.003). Mean cortical BMD was statistically similar between the genders and puberty groups. Puberty status, anthropometric Z-scores, and biochemical and QCT parameters were statistically similar between the genders (p > 0.05). Conclusion: Paediatric NF1 patients may present with low BMD and 25OHD inadequacy, especially at puberty. QCT may be a useful tool to evaluate trabecular and cortical bone separately in NF1 patients.

Medicina ◽  
2020 ◽  
Vol 56 (10) ◽  
pp. 518
Author(s):  
Witold Krupski ◽  
Joanna Kruk-Bachonko ◽  
Marcin R. Tatara

Background and Objectives: During osteopetrosis course, impaired bone remodeling induces skeletal osteosclerosis and abnormally dense bones, which, however, are brittle and susceptible to low-energy fractures. In this study, radiological evaluation and densitometric measurements of several bones of the skeleton in one of the oldest patients in the world suffering from osteopetrosis was presented. Materials and Methods: Volumetric bone mineral density measurements of the examined bones in an 80-year-old man were performed using two different quantitative computed tomography techniques. Results: The obtained results show higher values of the volumetric bone mineral density of the trabecular bone in lumbar spine than in the cortical bone compartment. T-score and Z-score in this patient reached values of 27–28 and 31–32, respectively. Conclusions: The obtained densitometric data may serve for further diagnostic purposes of osteopetrosis. As documented, the severity of the osteosclerotic changes of bones were higher in this patient than in most other described cases. Moreover, radiological signs diagnosed in this patient were characteristic for all types of osteopetrosis making this case very uncommon.


Author(s):  
Hatice Gamze Poyrazoğlu ◽  
Veysel Nijat Baş ◽  
Alev Arslan ◽  
Funda Bastug ◽  
Mehmet Canpolat ◽  
...  

AbstractBackground:Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1.Methods:The study population included 33 pediatric NF1 patients (20 males and 13 females). Bone metabolic markers, such as total calcium, phosphorus, magnesium, alkaline phosphatase, parathyroid hormone, and 25-OH vitamin D, the urinary calcium/creatine ratio were measured. In addition, BMD was measured at both the lumbar spine (LS) and the femoral neck in all the patients.Results:All the patients had a low 25-OH vitamin D level, but it was significantly lower in the females than in the males (p<0.009). Overall, 18.2% of the patients had skeletal abnormalities. The lumbar Z-score was ≤2 in 21.2% of the patients, whereas the femoral neck Z-score was ≤2 in 9.1%. The urinary calcium/creatine ratio was significantly higher in the female than in the male patients (p<0.027). In all, six patients had skeletal abnormalities.Conclusions:It is widely known that bone mineral metabolism markers and BMD are significantly affected in NF1 patients; however, the present study did not identify any effective parameters that could be used to predict skeletal abnormalities, or diagnose early osteoporosis and osteopenia in pediatric NF1 patients.


2012 ◽  
Vol 39 (6) ◽  
pp. 1215-1220 ◽  
Author(s):  
SYMEON TOURNIS ◽  
VASILIOS SAMDANIS ◽  
SAVAS PSARELIS ◽  
CHRYSA LIAKOU ◽  
JULIA ANTONIOU ◽  
...  

Objective.To investigate the effect of rheumatoid arthritis (RA) on volumetric bone mineral density (vBMD) and bone geometry in postmenopausal women treated with bisphosphonates.Methods.Fifty-three postmenopausal women with RA and 87 control subjects, comparable in terms of age, body mass index, and years since menopause, underwent peripheral quantitative computed tomography (pQCT) of the nondominant tibia.Results.At 4% (trabecular site), trabecular bone mineral content (BMC) and vBMD (p < 0.001) were lower in the RA group, while trabecular area was comparable. At 38% (cortical site), cortical BMC (p < 0.01), area (p < 0.05), and thickness (p < 0.001) were lower in the RA group, whereas vBMD was comparable. Endosteal circumference was higher (p < 0.05), whereas periosteal circumference was comparable, indicating cancellization of cortical bone. In the RA group, muscle area was lower (p < 0.001), while at 14% polar stress strength index was significantly lower (p < 0.01) in patients with RA, indicating impairment of bone mechanical properties.Conclusion.RA is associated with negative effects on both cortical and cancellous bone in postmenopausal women treated with bisphosphonates. Cortical geometric properties are also adversely affected mainly by increased endosteal circumference, whereas trabecular geometric properties are generally preserved.


2005 ◽  
Vol 46 (3) ◽  
pp. 269-275 ◽  
Author(s):  
G. Guglielmi ◽  
I. Floriani ◽  
V. Torri ◽  
J. Li ◽  
C. van Kuijk ◽  
...  

Purpose: To evaluate the impact of degenerative changes due to osteoarthritis (OA) at the spine on volumetric bone mineral density (BMD) as measured by volumetric quantitative computed tomography (vQCT). Material and Methods: Eighty‐four elderly women (mean age 73±6 years), comprising 33 with vertebral fractures assessed by radiographs and 51 without vertebral fractures, were studied. Trabecular, cortical, and integral BMD were examined at the spine and hip using a helical CT scanner and were compared to dual X‐ray absorptiometry (DXA) measurements at the same sites. OA changes visible on the radiographs were categorized into two grades according to severity. Differences in BMD measures obtained in the two groups of patients defined by OA grade using the described radiologic methods were compared using analysis of variance. Standardized difference (effect sizes) was also compared between radiologic methods. Results: Spinal trabecular BMD did not differ significantly between OA grade 0 and OA grade 1. Spinal cortical and integral BMD measures showed statistically significant differences, as did the lumbar spine DXA BMD measurement (13%, P = 0.02). The QCT measurements at the hip were also higher in OA 1 subjects. Femoral trabecular BMD was 13–15% higher in OA grade 1 subjects than in OA grade 0 subjects. The cortical BMD measures in the CT_TOT_FEM and CT_TROCH ROI's were also higher in the OA 1 subjects. The integral QCT BMD measures in the hip showed difference between grades OA 1 and 0. The DXA measurements in the neck and trochanter ROI's showed smaller differences (9 and 11%, respectively). There were no statistically significant differences in bone size. Conclusion: There is no evidence supporting that trabecular BMD measurements by QCT are influenced by OA. Instead, degenerative changes have an effect on both cortical and integral QCT, and on DXA at the lumbar spine and the hip. For subjects with established OA, assessment of BMD by volumetric QCT may be suggested.


PLoS ONE ◽  
2017 ◽  
Vol 12 (4) ◽  
pp. e0175000 ◽  
Author(s):  
Stephanie Panzer ◽  
Holger Wittig ◽  
Stephanie Zesch ◽  
Wilfried Rosendahl ◽  
Sandra Blache ◽  
...  

2011 ◽  
Vol 24 (6) ◽  
pp. 942-945
Author(s):  
F. Ambesi Impiombato ◽  
D. Gambacorta ◽  
M. Zocchi ◽  
M.C. De Nisi ◽  
A. Rossi

A 60-year-old woman with neurofibromatosis type 1 presented with a nonpainful swelling in the left laterocervical region that had suddenly arisen after mild exertion the previous evening. Computed tomography with and without contrast enhancement revealed a rupture of the wall of the left internal jugular vein, with a diffuse subcutaneous hematoma. Postoperative histopathologic examination reported diffuse proliferation of plexiform neurofibromatous tissue within the vessel wall.


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