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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Background: Early definitive spinal fusion (EF) has been widely recommended to avoid spinal deformity progression for early-onset scoliosis (EOS) with neurofibromatosis type 1 (NF-1). In contrast, growing rod (GR) procedure has recently been recommended for EOS associated with the dystrophic type NF-1. However, no studies have compared the surgical outcomes between EF and GR procedure for EOS with NF-1. The purpose of this study was to compare the surgical outcomes of EF versus GR for early onset and dystrophic scoliosis with NF-1. Methods: This was a retrospective multicenter study; 26 EOS patients with dystrophic ty...
Source: Journal of Pediatric Orthopaedics - Category: Orthopaedics Tags: Scioliosis/Kyphosis Source Type: research
Spinal deformities constitute one of the most common types of manifestations of neurofibromatosis type-1 (NF-1), which can lead to either dystrophic or non-dystrophic early-onset scoliosis (EOS). Surgical trea...
Source: BMC Musculoskeletal Disorders - Category: Orthopaedics Authors: Tags: Research article Source Type: research
Conclusion: The surgical correction of patients having spinal deformity associated with NF-1 is challenging, however the radiographic and clinical outcomes are satisfactory. The all posterior approach can be a safe and effective surgical option for patients having dystrophic curves associated with NF-1. PMID: 32512989 [PubMed - as supplied by publisher]
Source: Journal of Korean Neurosurgical Society - Category: Neurosurgery Tags: J Korean Neurosurg Soc Source Type: research
Conclusions: The posterior-only approach produces a satisfactory correction of the dystrophic neurofibromatosis scoliosis if associated with the use of high-density third-generation instrumentations. We are confident in recommending posterior-only approach in dystrophic neurofibromatosis scoliosis with coronal curves till 110° and coexisting thoracic kyphosis till 80°
Source: Journal of Craniovertebral Junction and Spine - Category: Orthopaedics Authors: Source Type: research
We present a unique case of two male siblings with a clinical diagnosis of Neurofibromatosis type 1. These siblings, a five-year-old and 10-year-old, were referred for caf é au lait macules, bilateral axillary freckling, macrocephaly, mild scoliosis, however; neither showed palpable neurofibromas or visible Lisch nodules.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
ConclusionThis result indicates that every patient with clinical features of Jaffe-Campanacci syndrome should be further evaluated to detect features related to neurofibromatosis type 1 and genetically investigated for mutations in the NF1 gene, since this could lead to a definite diagnosis, but also could clarify and quantify the real genotype-phenotype overlap between neurofibromatosis type 1 and Jaffe-Campanacci syndrome.
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research
In this study the authors sought to analyze the outcomes of GRs in EOS patients with NF1. METHODS: This was a retrospective single-center cohort study that included consecutive EOS patients with NF1 who were treated with GRs and were followed up for a minimum of 2 years. Clinical and radiological analyses were performed preoperatively and until the last follow-up. RESULTS: From to 2008 to 2017, 18 patients (6 male, 12 female) underwent GR surgery (14 single GRs, 4 dual GRs) at a mean age of 8 ± 2.1 years. Mean follow-up was 5 ± 2.4 years. Fifty-five lengthenings were performed at a mean rate of 3 le...
Source: Journal of Neurosurgery.Spine - Category: Neurosurgery Authors: Tags: J Neurosurg Spine Source Type: research
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
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