scholarly journals Evidence of neurofibromatosis type 1 in a multi-morbid Inca child mummy: A paleoradiological investigation using computed tomography

PLoS ONE ◽  
2017 ◽  
Vol 12 (4) ◽  
pp. e0175000 ◽  
Author(s):  
Stephanie Panzer ◽  
Holger Wittig ◽  
Stephanie Zesch ◽  
Wilfried Rosendahl ◽  
Sandra Blache ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

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

2021 ◽  
Author(s):  
O Tezol ◽  
Y Balcı ◽  
M Alakaya ◽  
B Gundogan ◽  
EC Cıtak
Keyword(s):  
Computed Tomography ◽  
Neurofibromatosis Type 1 ◽  
Quantitative Computed Tomography ◽  
Neurofibromatosis Type ◽  
Significant Negative Correlation ◽  
Urinary Calcium ◽  
Volumetric Bone Mineral Density ◽  
Z Score ◽  
Mineral Density

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.

Rupture of a Left Internal Jugular Vein

2011 ◽  
Vol 24 (6) ◽  
pp. 942-945
Author(s):  
F. Ambesi Impiombato ◽  
D. Gambacorta ◽  
M. Zocchi ◽  
M.C. De Nisi ◽  
A. Rossi
Keyword(s):  
Computed Tomography ◽  
Contrast Enhancement ◽  
Internal Jugular Vein ◽  
Neurofibromatosis Type 1 ◽  
Vessel Wall ◽  
Jugular Vein ◽  
Neurofibromatosis Type ◽  
Histopathologic Examination ◽  
Left Internal Jugular Vein

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.

scholarly journals Absence of a Sphenoid Wing in Neurofibromatosis Type 1 Disease: Imaging with Multidetector Computed Tomography

2006 ◽  
Vol 7 (1) ◽  
pp. 70 ◽  
Author(s):  
Omer Onbas ◽  
Cihangir Aliagaoglu ◽  
Cagatay Calikoglu ◽  
Mecit Kantarci ◽  
Mustafa Atasoy ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Multidetector Computed Tomography ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Plexiform Neurofibroma in the Hepatic Hilum Associated with Neurofibromatosis Type 1: A Case Report

Rare Tumors ◽  
2009 ◽  
Vol 1 (1) ◽  
pp. 44-46 ◽  
Author(s):  
Sojun Hoshimoto ◽  
Zenichi Morise ◽  
Chinatsu Takeura ◽  
Masahiro Ikeda ◽  
Tadashi Kagawa ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Abdominal Pain ◽  
Neurofibromatosis Type 1 ◽  
Histopathological Examination ◽  
Abdominal Mass ◽  
Plexiform Neurofibroma ◽  
Celiac Trunk ◽  
Neurofibromatosis Type ◽  
Hepatic Hilum

We present an extremely rare case of plexiform neurofibroma involving the hepatic hilum. A 24-year old woman who had been diagnosed with neurofibromatosis type 1 was referred to our hospital for evaluation of an abdominal mass found on computed tomography and progressive aggravation of intermittent abdominal pain. Abdominal computed tomography revealed a multilobulated non-enhancing mass involving the celiac trunk and hepatic artery, that extended to the hepatic hilum through the hepatoduodenal ligament. Magnetic resonance imaging showed the lesion extending along the intrahepatic Glisson's sheath. Based on the imaging findings, the patient was diagnosed to have a neurofibroma, although sarcomatous differentiation could not be excluded. The tumor was resected, leaving behind the intrahepatic extension, with the aim of alleviating the abdominal pain and preventing obstructive jaundice. Histopathological examination revealed the diagnosis of plexiform neurofibroma. At present, three years after the surgery, the patient remains symptom-free, without any evidence of recurrence.

scholarly journals Neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Tatsuya Uchida ◽  
Kenichi Amagasaki ◽  
Atsushi Hosono ◽  
Hiroshi Nakaguchi
Keyword(s):  
Computed Tomography ◽  
Subarachnoid Hemorrhage ◽  
Neurofibromatosis Type 1 ◽  
Intracranial Aneurysms ◽  
De Novo ◽  
Neurofibromatosis Type ◽  
Left Middle Cerebral Artery ◽  
Short Period ◽  
Left Middle

Abstract Background Neurofibromatosis type 1 causes various lesions in many organs including the skin, and the incidence of complications with intracranial aneurysms is 9–11%. Here we report a case of neurofibromatosis type 1 with subarachnoid hemorrhage due to multiple and de novo aneurysms. Case presentation The patient was a 49-year-old Japanese woman with a history of neurofibromatosis type 1. She was transported to our hospital owing to disturbance of consciousness and was diagnosed with subarachnoid hemorrhage by computed tomography. Computed tomography angiography revealed multiple, small intracranial aneurysms, and we suspected that one of them in the peripheral branch of the left middle cerebral artery was the source of hemorrhage based on the distribution of hematoma. The patient underwent emergency surgery. Because it was difficult to identify an aneurysm in the most peripheral part of the left middle cerebral artery in the initial surgery, only one aneurysm was clipped. Later, a peripheral aneurysm was clipped using the navigation system. Because both aneurysms were small intracranial aneurysms (< 2 mm), either of them could be the source of hemorrhage. The postoperative course was good, and the patient was discharged in healthy condition. Because brain magnetic resonance imaging performed in the previous year did not find aneurysms at the same site, she was diagnosed with rupture of a de novo aneurysm. Neurofibromatosis type 1 might have caused the rupture of multiple intracranial aneurysms in a short period in this patient. Conclusion Neurofibromatosis type 1 may be complicated by the formation of multiple intracranial aneurysms in a short period.

Orbital malformation with dysplastic infraorbital artery in neurofibromatosis type 1

2020 ◽  
pp. 112067212092244
Author(s):  
Zhengkang Li ◽  
Leilei Zhang ◽  
Yuan Deng
Keyword(s):  
Computed Tomography ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Artery Embolization ◽  
Orbital Reconstruction ◽  
Reconstruction Surgery ◽  
History Of ◽  
Inferior Orbital Fissure

Purpose: To report a case with neurofibromatosis type 1 presenting as prominent enophthalmos and abnormal infraorbital artery. Case description: A 19-year-old man with a family history of neurofibromatosis presented with prominent right enophthalmos. Computed tomography showed orbital dysplasia and enlarged inferior orbital fissure but no plexiform neurofibroma. Prominent intraoperative hemorrhage originated from several abnormal arteries in the infraorbital region during orbital reconstruction. A tortuous and dysplastic infraorbital artery was verified postoperatively by computed tomography angiography. The bleeding vessels were supposed to be the orbital branches of the dysplastic infraorbital artery. Conclusions: The orbital malformation and enlargement of inferior orbital fissure probably resulted in an abnormal infraorbital artery. Selective artery embolization may be chosen as a preceding treatment before orbital reconstruction surgery.

Computed Tomography Findings of Gynecomastia in a Patient With Neurofibromatosis Type 1

2005 ◽  
Vol 7 (3) ◽  
pp. 119-121
Author(s):  
Andrew Y Choi ◽  
Alex Rosioreanu ◽  
Susana Fuchs ◽  
Douglas S Katz
Keyword(s):  
Computed Tomography ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type
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