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.

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.

scholarly journals A case of appendiceal ganglioneuroma in neurofibromatosis type 1

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Tadaaki Shimizu ◽  
Nao Hondo ◽  
Yusuke Miyagawa ◽  
Masato Kitazawa ◽  
Futoshi Muranaka ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Neurofibromatosis Type 1 ◽  
Histopathological Examination ◽  
Submucosal Tumor ◽  
Fibrous Tissue ◽  
Neurofibromatosis Type ◽  
Inherited Disease ◽  
Negative Resection Margin ◽  
Neurogenic Tumors

Abstract Background Neurofibromatosis type 1 is an autosomal dominant inherited disease associated with multiple skin neurofibromas or other neurogenic tumors, such as nodular plexiform neurinoma or cerebrospinal tumor. Gastrointestinal stromal tumors are often complicated in patients with neurofibromatosis type 1, although involvement of the appendix is rare, and there have been few reports of appendiceal ganglioneuroma. Case presentation The patient was a 29-year-old man diagnosed with neurofibromatosis type 1 based on physical findings and his family history. During the follow-up of neurofibromatosis, computed tomography was performed to detect neurological tumors, such as neurofibromas in the brain, spinal cord, and gastrointestinal tract. Computed tomography showed a markedly thickened appendix wall, and an appendiceal tumor was suspected. Laparoscopic appendectomy was performed, and a 50 × 35 mm appendiceal submucosal tumor was resected with a negative resection margin. At histopathological examination, the tumor was diagnosed as ganglioneuroma; it showed short spindle-shaped cells and ganglion cells diffusely infiltrated into the proper muscle layer and fibrous tissue that grew around nerve cells. The patient was discharged on the 5th postoperative day without postoperative complications and was doing well at 13 months following the operation. Conclusions Gastrointestinal stromal tumor and neurofibroma are the most common gastrointestinal tumors associated with neurofibromatosis type 1, but ganglioneuroma of the appendix is rare. Appendiceal neurogenic tumors should be considered in patients with neurofibromatosis type 1, and surgical resection is necessary because of the risk of malignancy.

Giant plexiform neurofibroma in neurofibromatosis type 1

2018 ◽  
Vol 153 (5) ◽  
Author(s):  
Emanuele Miraglia ◽  
Teresa Lopez ◽  
Stefano Calvieri ◽  
Sandra Giustini
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type

scholarly journals Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 218
Author(s):  
Antonella Cacchione ◽  
Alessia Carboni ◽  
Mariachiara Lodi ◽  
Rita De Vito ◽  
Andrea Carai ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Correct Diagnosis ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Detection Techniques ◽  
Life Threatening ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Work ◽  
Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

scholarly journals Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
C. Ejerskov ◽  
M. Raundahl ◽  
P. A. Gregersen ◽  
M. M. Handrup
Keyword(s):  
Cognitive Impairment ◽  
Learning Disability ◽  
Diagnostic Criteria ◽  
Clinical Features ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

Clinical and Sonographic Classification of Neurofibromas in Children with Neurofibromatosis Type 1 – A Cluster Analysis

2021 ◽  
Author(s):  
Francisco Javier García-Martínez ◽  
Fernando Alfageme ◽  
Anna Duat-Rodríguez ◽  
Eva María Andrés Esteban ◽  
Angela Hernández-Martín
Keyword(s):  
Cluster Analysis ◽  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Neurofibromatosis Type ◽  
High Frequency Ultrasound ◽  
Accurate Identification ◽  
External Evaluators ◽  
Sonographic Patterns ◽  
Sonographic Classification

Abstract Purpose High-frequency ultrasound allows the accurate identification of neurofibromas in neurofibromatosis type 1 (NF1). This study aimed to analyze the ultrasound features of neurofibromas in children with NF1, to establish a classification based on the clinical and sonographic patterns of the different types of neurofibromas, and to evaluate the interobserver correlation coefficient (κ) of this classification. Materials and Methods In this prospective, single referral center observational study, clinical and ultrasound findings of neurofibromas in children diagnosed with NF 1 were analyzed. To identify the ultrasound patterns, a cluster analysis allowing the inclusion of both clinical and ultrasound data was designed. The κ coefficient was calculated using 9 external evaluators. Results 265 ultrasound scans were performed on a total of 242 neurofibromas from 108 children diagnosed with NF1. Cluster analysis allowed the identification of 9 patterns (Snedecorʼs F, P < 0.001) classified as “classic” cutaneous neurofibroma, blue-red neurofibroma, pseudoatrophic neurofibroma, nodular subcutaneous neurofibroma, diffuse subcutaneous neurofibroma, congenital cutaneous neurofibroma, congenital plexiform neurofibroma, congenital diffuse and plexiform neurofibroma, and subfascial neurofibroma. The κ coefficient of the interobserver ratings was 0.82. Conclusion Patterns identified in the cluster analysis allow neurofibromas to be classified with a very high interobserver correlation.

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.

scholarly journals Adrenal incidentaloma in neurofibromatosis type 1

2008 ◽  
Vol 136 (5-6) ◽  
pp. 295-298
Author(s):  
Milina Tancic-Gajic ◽  
Svetlana Vujovic ◽  
Svetislav Tatic ◽  
Milos Stojanovic ◽  
Miomira Ivovic ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Plexiform Neurofibroma ◽  
Fatal Outcome ◽  
Clinical Manifestations ◽  
Adrenal Incidentaloma ◽  
Neurofibromatosis Type ◽  
Clinical Criteria ◽  
Abdominal Magnetic Resonance Imaging ◽  
Rare Tumours

INTRODUCTION Neurofibromatosis type 1 is one of the most common genetically transmitted diseases with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. It is diagnosed by the existence of certain clinical criteria. The presence of numerous localised cutaneous neurofibromas or a plexiform neurofibroma is virtually pathognomonic of neurofibromatosis type 1. The incidence of pheochromocytoma in neurofibromatosis type 1 is 0.1-5.7%. CASE OUTLINE A 56-year old female patient was admitted for further evaluation of incidental adrenal tumour previously diagnosed on computerized tomography (CT). She had previously unrecognized neurofibromatosis type 1 and a clinical picture which could remind of pheochromocytoma. None of the catecholamine samples in 24 hr urine indicated functionally active pheochromocytoma. Chromogranin A was moderately increased. Decision for operation was made after performing the image techniques. Adrenal incidentaloma had features of pheochromocytoma on abdominal magnetic resonance imaging (MRI), with positive 131I-MIBG (iodine 131-labelled metaiodobenzylguanidine scintigraphy). After being treated with phenoxybenzamine and propranolol, she was operated on. The pathohistological finding showed the case of left adrenal pheochromocytoma. CONCLUSION Detailed diagnostic procedure for pheochromocytoma should be performed with patients having neurofibromatosis type 1 and adrenal incidentaloma. Pheochromocytomas are rare tumours with fatal outcome if not duly recognized and cured.

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