Forensic Considerations in Cases of Neurofibromatosis—An Overview

Byard, Roger W.

doi:10.1111/j.1556-4029.2007.00512.x

Cited by 18 publications

(10 citation statements)

References 55 publications

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“…In MAS, the skeletal disease (PFD) almost always involves one or both proximal femurs and/or the skull base, as well as other locations. Skeletal involvement in NF is uncommon and usually involves the diaphyses of the long bones, especially the tibiae, often leading to pseudoarthrosis [ 38 , 39 ].…”

Section: Diagnosis Diagnostic Criteria Diagnostic Methods Differenmentioning

confidence: 99%

McCune-Albright syndrome

Dumitrescu

Collins

2008

Orphanet J Rare Dis

400

349

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McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP). It is a rare disease with estimated prevalence between 1/100,000 and 1/1,000,000. FD can involve a single or multiple skeletal sites and presents with a limp and/or pain, and, occasionally, a pathologic fracture. Scoliosis is common and may be progressive. In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting. Café-au-lait spots usually appear in the neonatal period, but it is most often PP or FD that brings the child to medical attention. Renal involvement is seen in approximately 50% of the patients with MAS. The disease results from somatic mutations of the GNAS gene, specifically mutations in the cAMP regulating protein, Gs alpha. The extent of the disease is determined by the proliferation, migration and survival of the cell in which the mutation spontaneously occurs during embryonic development. Diagnosis of MAS is usually established on clinical grounds. Plain radiographs are often sufficient to make the diagnosis of FD and biopsy of FD lesions can confirm the diagnosis. The evaluation of patients with MAS should be guided by knowledge of the spectrum of tissues that may be involved, with specific testing for each. Genetic testing is possible, but is not routinely available. Genetic counseling, however, should be offered. Differential diagnoses include neurofibromatosis, osteofibrous dysplasia, non-ossifying fibromas, idiopathic central precocious puberty, and ovarian neoplasm. Treatment is dictated by the tissues affected, and the extent to which they are affected. Generally, some form of surgical intervention is recommended. Bisphosphonates are frequently used in the treatment of FD. Strengthening exercises are recommended to help maintaining the musculature around the FD bone and minimize the risk for fracture. Treatment of all endocrinopathies is required. Malignancies associated with MAS are distinctly rare occurrences. Malignant transformation of FD lesions occurs in probably less than 1% of the cases of MAS.

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Section: Diagnosis Diagnostic Criteria Diagnostic Methods Differenmentioning

confidence: 99%

McCune-Albright syndrome

Dumitrescu

Collins

2008

Orphanet J Rare Dis

400

349

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“…Primary vascular pathology includes arterial ectasia, stenosis, aneurysm, or fibromuscular dysplasia 10. Percutaneous coil embolization and stent-graft placement has been successfully employed,11 although surgical management is often required 12.…”

Section: Discussionmentioning

confidence: 99%

Fatal Tension Hemothorax Combined With Exanguination: A Rare Complication of Neurofibromatosis

Bidad

Hall

Blohm

2019

Clinical Practice and Cases in Emergency Medicine

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Neurofibromatosis (NF) is a common autosomal dominant disorder that can be subdivided into type 1, type 2, and schwannomatosis. Patients with NF1 typically develop café-au-lait spots, scoliosis, and benign neurofibromas. In addition, NF1 predisposes to vascular complications including stenosis, arterial ectasia, and aneurysms. Here, we report the case of an otherwise healthy 32-year-old man who developed a fatal tension hemothorax due to vertebral artery aneurysm rupture. Based on the available literature, we discuss the presentation, workup, and available therapeutic approaches to this complication of neurofibromatosis.

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“…Neurofibromatosis types 1 and 2 are inherited neurocutaneous disorders with an association with sudden death from hypertension, vasculopathies, and a variety of other cardiovascular abnormalities. In addition, both are associated with intracerebral tumors that may result in lethal brainstem compression, hydrocephalus epilepsy, and hemorrhage . Malignant infiltration of the corpus callosum may be manifested macroscopically as thickening (Fig.…”

Section: Overviewmentioning

confidence: 99%

The Corpus Callosum and Forensic Issues—An Overview

Byard

2016

Journal of Forensic Sciences

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The corpus callosum is a large central white matter tract that connects the right and left cerebral hemispheres. It permits placental mammals to have a more sophisticated interhemispheric integration of sensory cortices and allows communication between cortical and subcortical neurons. Search of the literature and the pathology archives at The University of Adelaide was undertaken to identify lesions and injuries within the corpus callosum that may have forensic significance. These include developmental/congenital lesions with agenesis/dysgenesis, vascular malformations, and lipomas; inherited syndromes such as neurofibromatosis; and acquired lesions involving trauma, neoplasia, demyelination, vascular conditions, infections, fat embolism, aging/dementia, and the effects of toxins. The finding of lesions within the corpus callosum should initiate careful examination of the adjacent brain and other organ systems for related phenomena as this may shed some light on the nature of the underlying condition, and also help to determine whether there are any forensic implications.

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Forensic Considerations in Cases of Neurofibromatosis—An Overview

Cited by 18 publications

References 55 publications

McCune-Albright syndrome

McCune-Albright syndrome

Fatal Tension Hemothorax Combined With Exanguination: A Rare Complication of Neurofibromatosis

The Corpus Callosum and Forensic Issues—An Overview

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