Unusual form of the distal bone defect of ulna with neurofibromatosis type 1: A case report

Rationale: Bone malformation occurs in 10% to 25% neurofibromatosis type 1 (NF-1) patients, and the manifestations are scoliosis, congenital arch and pseudo-joint formation, bone cyst, and pathologic fracture. However, a large segmental defect without obvious signs of bone destruction has rarely been reported. Patient concerns: A 4.5-year-old male presented with a 4-year history of shortening of the right upper limb and radial head dislocation. The X-ray indicated a lack of the distal part of the right ulna and radial head dislocation. Diagnosis: The X-ray showed obvious bone resorption at the right ulna distal, proximal stubble, and distal part of the epiphyseal residue, which was 4.3 mm shorter after 14 months. The patient was finally diagnosed with NF-1 according to the pathologic examination. Interventions: The treatment included tumor resection, ulnar osteotomy, and fixation by an Ilizarov frame. Outcomes: The Ilizarov frame was removed after 2.7 months of surgery. The radial head was successfully repositioned, and the elbow joint function was significantly improved. No recurrence of the deformity was noted until now. Lessons: Osteolysis (defect without bone destruction) is an extremely rare symptom in patients with NF1. Therefore, it is essential to make the right diagnosis by comprehensive and careful physical examination.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research

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Conclusions: Our goals for NF-1 scoliosis are to obtain deformity correction, to achieve stable instrumentation by using longer fusion levels and to attain a solid fusion mass that can tolerate continual erosion during the long-term follow-up. We achieve this by using a circumferential approach for EOS associated with NF-1. Level of Evidence: Level IV—case series.
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Scoliosis Source Type: research
We report a 17-year-old boy affected by NF1 with extreme severe spinal and thoracic malformations affecting bone and lung tissues, including hypoplasia of the right lung, unilateral costal agenesis and severe dystrophic scoliosis characterized by association of hemivertebra, fusion of adjacent vertebral bodies and defective pedicles. At birth, he presented an acute respiratory distress requiring invasive ventilator support. The diagnosis of NF1 was confirmed at age 5 by the identification of a de novo heterozygous mutation c.4537C > T, p.Arg1513* in NF1. Trio-based Whole Exome Sequencing (WES) was performed to...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Katie Krzyzanowski was born with neurofibromatosis, which causes tumours to form on nerve endings. This led the now 20-year-old, of Somerset, to develop scoliosis at four years old.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news
Rationale: Scoliosis is the most common form of dystrophic spinal deformities in type 1 neurofibromatosis, whereas a spontaneous rotational dislocation of the lumbar spine is a rare entity. Former researchers had advocated the use of circumferential fusion performed through combined anterior-posterior approaches as the mode of treatment of this situation, but we managed to achieve a solid circumferential fusion equally using posterior approach alone. Patient concerns: A 51-year-old lady presented with severe back pain and no history of trauma, fever, or loss of weight. On examination, she showed several café-au...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
This study aimed at verifying the efficacy of growing rod treatment in patients affected by neurofibromatosis with early-onset scoliosis. The authors present a retrospective case study of seven children treated between 2001 and 2017. Mean age at initial surgery was 7.2 years. Mean Cobb angle was 82.7°. Lengthening was performed once a year. Mean Cobb angle at last follow-up was 50.1°. Mean spinal growth was 13.6 mm/year, with regular gain during lengthening procedures. Mean follow-up period was 7 years after the first surgery. Three patients underwent final fusion. Complications were one proximal junctional ...
Source: Journal of Pediatric Orthopaedics B - Category: Orthopaedics Tags: PEDIATRIC ORTHOPAEDICS IN ITALY: SPECIAL ISSUE Source Type: research
Abstract OBJECTIVE: The aim of this study was to evaluate the differences in transcranial electric motor-evoked potentials - TceMEP on upper limbs and the incidences of postoperative brachial plexopathy between patients with kyphotic and scoliotic trunk shapes. METHODS: In the period of January 2011-January 2017, 61 consecutive patients (mean age: 18.4 years ± 4.4 years (range: 10-32)) with pediatric spinal deformity underwent surgery in our Department. Eight of them had a kyphotic trunk deformity (Scheuermann kyphosis, neurofibromatosis, posterior thoracic hemivertebra), and the rest of the ...
Source: Acta Orthopaedica et Traumatologica Turcica - Category: Orthopaedics Authors: Tags: Acta Orthop Traumatol Turc Source Type: research
AbstractScoliosis is a common manifestation of neurofibromatosis type 1, causing significant morbidity. The etiology of dystrophic scoliosis in neurofibromatosis type 1 is not fully understood and therapies are lacking. Somatic mutations inNF1 have been shown in tibial pseudarthrosis providing rationale for similar processes in neurofibromatosis type 1 –associated dystrophic scoliosis. Spinal samples from surgical procedures with matched peripheral blood of two individuals with neurofibromatosis type 1 and dystrophic scoliosis were obtained and DNA extracted. Next generation sequencing of various spinal sections as w...
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research
Study Design: This is a retrospective cohort study. Objective: To investigate surgical outcomes and instrumentation-related complications (IRCs) of dystrophic scoliosis associated with neurofibromatosis type 1 (NF-1). Summary of Background Data: Surgical management, including the growing rod technique and early definitive fusion, has been recommended to avoid progression of NF-1 scoliosis. However, no study has investigated the outcomes and complications of different surgical interventions. Materials and Methods: We performed a retrospective review of a cohort of 59 patients diagnosed with NF-1 dystrophic scolio...
Source: Journal of Spinal Disorders and Techniques - Category: Surgery Tags: PRIMARY RESEARCH Source Type: research
Study Design. Retrospective cohort study. Objective. To assess the incidence and risk factors of instrumentation-related complication (IRC) in pediatric patients surgically treated for neurofibromatosis type 1 (NF-1) dystrophic scoliosis. Summary of Background Data. Surgical management including growing rods technique and early definitive fusion has been recommended to avoid progression of NF-1 scoliosis. However, no study has yet investigated the incidence and risk factors of IRC in these surgical interventions. Methods. Data of 59 pediatric NF-1 patients who had been surgically treated for dystrophic scoliosis...
Source: Spine - Category: Orthopaedics Tags: DEFORMITY Source Type: research
ConclusionsWe safely performed a two-stage procedure involving the extirpation of a neurofibroma in the lateral position, and posterior spinal fusion with segmental spinal instrumentation for scoliosis in the prone position.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
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