INTRODUCTION: Neurofibromatosis type 1 (NF1) 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.
Female ; Humans ; Male ; Child ; Absorptiometry, Photon/methods* ; Neurofibromatosis 1/diagnostic imaging* ; Calcium ; Retrospective Studies ; Bone Density ; Tomography, X-Ray Computed/methods*

BACKGROUND: Scoliosis secondary to neurofibromatosis type 1 (NF1) in children aged <10 years is an important etiology of early-onset scoliosis (EOS). This study was performed to investigate the curve evolution of patients with EOS secondary to NF1 undergoing bracing treatment and to analyze high-risk indicators of rapid curve progression. METHODS: Children with EOS due to NF1 who underwent bracing treatment from 2010 to 2017 were retrospectively reviewed. The angle velocity (AV) at each visit was calculated, and patients with rapid curve progression (AV of >10°/year) were identified. The age at modulation and the AV before and after modulation were obtained. Patients with (n = 18) and without rapid curve progression (n = 10) were statistically compared. RESULTS: Twenty-eight patients with a mean age of 6.5 ± 1.9 years at the initial visit were reviewed. The mean Cobb angle of the main curve was 41.7° ± 2.4° at the initial visit and increased to 67.1° ± 8.6° during a mean follow-up of 44.1 ± 8.5 months. The overall AV was 6.6° ± 2.4°/year for all patients. At the last follow-up, all patients presented curve progression of >5°, and 20 (71%) patients had progressed by >20°. Rapid curve progression was observed in 18 (64%) patients and was associated with younger age at the initial visit and a higher incidence of modulation change during follow-up (t = 2.868, P = 0.008 and <0.001, respectively). The mean AV was 4.4° ± 1.2°/year before modulation and 11.8° ± 2.7°/year after modulation (t = 11.477, P < 0.010). CONCLUSIONS Curve progression of >10°/year is associated with younger age at the initial visit, and modulation change indicated the occurrence of the rapid curve progression phase.
Braces ; Child ; Child, Preschool ; Disease Progression ; Humans ; Neurofibromatosis 1/complications* ; Retrospective Studies ; Scoliosis/diagnostic imaging* ; Treatment Outcome

Abdominal Pain ; etiology ; Gastrointestinal Stromal Tumors ; complications ; diagnostic imaging ; Humans ; Jejunal Neoplasms ; complications ; diagnostic imaging ; Male ; Middle Aged ; Neurofibromatosis 1 ; complications ; Radiography ; Tomography, X-Ray Computed

Vasculopathy is rarely reported in neurofibromatosis type 1, but when it occurs it primarily involves the aorta and its main branches. Among vasculopathies, aneurysmal dilatation is the most common form. Although several case reports concerning aneurysms or pseudoaneurysms of visceral arteries in neurofibromatosis type 1 patients have been reported, there are no reports describing gastroduodenal artery aneurysms associated with neurofibromatosis type 1. We experienced a case of life-threatening duodenal ulcer bleeding from a ruptured gastroduodenal artery aneurysm associated with neurofibromatosis type 1. We treated our patient by transarterial embolization after initial endoscopic hemostasis. To our knowledge, this is the first reported case of its type. High levels of suspicion and prompt diagnosis are required to select appropriate treatment options for patients with neurofibromatosis type 1 experiencing upper gastrointestinal bleeding. Embolization of the involved arteries should be considered an essential treatment over endoscopic hemostasis alone to achieve complete hemostasis and to prevent rebleeding.
Adult ; Aneurysm/*diagnosis/etiology ; Arteries ; Embolization, Therapeutic ; Gastroscopy ; Head and Neck Neoplasms/complications/*diagnosis ; Hepatic Artery/diagnostic imaging ; Humans ; Male ; Neurofibromatosis 1/complications/*diagnosis ; Peptic Ulcer Hemorrhage/*etiology ; Radiography

Bone Neoplasms ; diagnosis ; diagnostic imaging ; pathology ; Cafe-au-Lait Spots ; diagnosis ; pathology ; Child ; Diagnosis, Differential ; Female ; Fibroma ; diagnosis ; diagnostic imaging ; pathology ; Humans ; Neurofibromatosis 1 ; diagnosis ; Radiography ; Syndrome

OBJECTIVETo retrospectively analyze the relationship between curve types and clinical results in surgical treatment of scoliosis in patients with neurofibromatosis type 1 (NF-1).

METHODSForty-five patients with scoliosis resulting from NF-1 were treated surgically from 1984 to 2002. Mean age at operation was 14.2 years. There were 6 nondystrophic curves and 39 dystrophic curves depended on their radiographic features. According to their apical vertebrae location, the dystrophic curves were divided into three subgroups: thoracic curve (apical vertebra at T8 or above), thoracolumbar curve (apical vertebra below T8 and above L1), and lumber curve (apical vertebra at L1 and below). Posterior spine fusion, combined anterior and posterior spine fusion were administrated based on the type and location of the curves. Mean follow-up was 6.8 years. Clinical and radiological manifestations were investigated and results were assessed.

RESULTSThree patients with muscle weakness of low extremities recovered entirely. Two patients with dystrophic lumbar curve maintained their low back pain the same as preoperatively. The mean coronal and sagittal Cobb's angle in nondystrophic curves was 80.3 degrees and 61.7 degrees before operation, 30.7 degrees and 36.9 degrees after operation, and 32.9 degrees and 42.1 degrees at follow-up, respectively. In dystrophic thoracic curves, preoperative Cobb's angle in coronal and sagittal plane was 96.5 degrees and 79.8 degrees, postoperative 49.3 degrees and 41.7 degrees, follow-up 54.1 degrees and 45.3 degres, respectively. In thoracolumbar curves, preoperative Cobb's angle in coronal and sagittal plane was 75.0 degrees and 47.5 degrees, postoperative 31.2 degrees and 22.8 degrees, follow-up 37.5 degrees and 27.8 degrees, respectively. In lumbar curves preoperative Cobb's angle in coronal plane was 55.3 degrees, postoperative 19.3 degrees, and follow-up 32.1 degrees. Six patients with dystrophic curves had his or her curve deteriorated more than 10 degrees at follow-up. Three of them were in the thoracic subgroup and their kyphosis was larger than 95 degrees, and three in lumbar subgroup. Hardware failure occurred in 3 cases. Six patients had 7 revision procedures totally.

CONCLUSIONSPosterior spinal fusion is effective for most dystrophic thoracic curves in patients whose kyphosis is less than 95 degrees. Combined anterior and posterior spinal fusion is stronger recommended for patients whose kyphosis is larger than 95 degrees and those whose apical vertebra is located below T8. Patients should be informed that repeated spine fusion might be necessary even after combined anterior and posterior spine fusion.

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Kyphosis ; diagnostic imaging ; etiology ; surgery ; Male ; Neurofibromatosis 1 ; complications ; Radiography ; Retrospective Studies ; Scoliosis ; diagnostic imaging ; etiology ; surgery ; Spinal Fusion ; methods