scholarly journals Neurofibromatosis Type I and Stromal Tumor with a Multiple Digestive Localization

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Amina Chaka ◽  
Farouk Ennaceur ◽  
Mohamed Amine Tormen ◽  
Ibtissem Korbi ◽  
Faouzi Noomen ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Stromal Tumor ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Multisystem Disorder ◽  
Cell Tissue ◽  
Increased Risk ◽  
Recklinghausen Disease ◽  
Made In

Neurofibromatosis type I (NF1) is also known as von Recklinghausen disease. It is a genetic disorder that affects the growth and development of nerve cell tissue, which is characterized by a multisystem disorder and an increased risk for cancer. The incidence of gastroduodenal stromal tumor during Recklinghausen disease can reach 35% in autopsies and 5% in clinical cases. In our case, the diagnosis of neurofibromatosis type I was made in a middle-aged women initially diagnosed with a pancreaticoduodenal tumor.

NEUROFIBROMATOSIS TYPE I (VON RECKLINGHAUSEN DISEASE OF THE SKIN): CASE REPORT

2020 ◽  
Vol 129 (1) ◽  
pp. e85
Author(s):  
PRISCILA THAÍS RODRIGUES DE ABREU ◽  
SICÍLIA REZENDE OLIVEIRA ◽  
LENI VERÔNICA DE OLIVEIRA SILVA ◽  
ALINE FERNANDA CRUZ ◽  
RICARDO ALVES DE MESQUITA ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Von Recklinghausen Disease ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

396 Gastrointestinal stromal tumor associated with neurofibromatosis type I

2014 ◽  
Vol 50 ◽  
pp. 127
Author(s):  
T. Takahashi ◽  
T. Nishida ◽  
R. Nakatsuka ◽  
M. Kaneda ◽  
S. Hirota ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumor ◽  
Neurofibromatosis Type ◽  
Stromal Tumor ◽  
Type I ◽  
Neurofibromatosis Type I

scholarly journals Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Ali Al Kaissi ◽  
Klaus Klaushofer ◽  
Franz Grill ◽  
Rudolf Ganger
Keyword(s):  
Early Life ◽  
Neurofibromatosis Type ◽  
Lower Limbs ◽  
Wedge Osteotomy ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Café Au Lait Spots ◽  
Nf1 Gene ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae and fibulae showed posteromedial bowing between the middle and distal thirds of the tibia with posterior cortical thickening effectively causing the development of bilateral congenital anterolateral bowing of the tibiae and fibulae. We referred to closing-wedge osteotomy of the left tibia along with fibular osteotomy in order to realign the deformity. Due to the delayed appearance of skin stigmata in her early life, the diagnosis of neurofibromatosis was ruled out. At the age of 9 years, café-au-lait spots and axillary freckling were apparent. Genetic tests confirmed von Recklinghausen disease (neurofibromatosis type-I (NF1)) (gene has been localised to 17q22). Interestingly, bilateral and symmetrical anteromedial bowing of the tibiae and fibulae has not been described in patients with NF-I.

scholarly journals A Case of Persistent Foot Pain in a Neurofibromatosis Type I Patient

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Vasilis Stavrinides ◽  
Salim Nasra
Keyword(s):  
Past History ◽  
Genetic Disorder ◽  
Young Male ◽  
Neurofibromatosis Type ◽  
Chromosome 17 ◽  
Type I ◽  
Foot Pain ◽  
Loss Of Function ◽  
Increased Risk ◽  
Initial Symptoms

Introduction. This is the case of a young male patient who presented to his family physician with atypical left foot pain, which was extremely resistant to analgesia and caused significant disability. Despite extensive investigations, the cause of his pain was not identified until 18 months after his initial symptoms, when the official diagnosis of malignant peripheral nerve sheath tumour (MPNST) was made. Detailed review of the patient’s past history established the diagnosis of type I neurofibromatosis (NF-1), previously undetected.Discussion. NF-1 is an autosomal dominant genetic disorder caused by loss of function mutations of theNF1gene in chromosome 17. Patients with this condition are at increased risk for developing MPNSTs which, however, are treatable only in early stages.Conclusion. Although monitoring NF-1 patients for the development of MPNSTs is common practice, the index of clinical suspicion in patients without an established NF-1 diagnosis is low. Any atypical pain in young adults should raise the possibility of this malignancy, and this case illustrates the fact that MPNSTs can be the first manifestation of NF-1 in patients previously undiagnosed with the disease.

scholarly journals Neurofibromatosis Type I (Von Recklinghausen Disease): A Case Report and Review of the Literature

2020 ◽  
Vol 47 (2) ◽  
pp. 43-46
Author(s):  
J. Pozharashka ◽  
L. Dourmishev ◽  
E. Bardarov ◽  
M. Balabanova ◽  
L. Miteva
Keyword(s):  
Genetic Disorder ◽  
Surgical Excision ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Multiple Organs ◽  
Laboratory Investigations ◽  
Von Recklinghausen ◽  
Typical Skin

AbstractNeurofibromatosis type I is an autosomal dominant genetic disorder with an incidence of about 1 in 3000 births. Apart from the typical skin involvement NF1 may affect multiple organs with ocular, neurological, skeletal and cardiovascular manifestations. We present a case of a 38-year-old man with multiple café-au-lait macules and hundreds of neurofibromas disseminated on the trunk and extremities dating from childhood. To establish the diagnosis and to exclude any complications we performed multiple examinations, including skin biopsy, laboratory investigations, ophthalmologic assessment, consultations with a neurologist, internist and orthopedist, etc. The treatment of cutaneous NF1 is mainly symptomatic. Surgical excision aims to achieve cosmetic results. Recently novel and perspective conservative therapies have been investigated. In order to ensure better outcome for the patients with NF1 long-term multi-disciplinary approach is advised.

scholarly journals Glioblastoma in the Cerebellopontine Angle in a Patient with Neurofibromatosis Type I: A Case Report and Review of the Literature

2019 ◽  
Vol 2 (02) ◽  
pp. 72-75
Author(s):  
Mohammad Kareem Shukairy ◽  
Andrea M. Ziegler ◽  
Douglas E. Anderson ◽  
John P. Leonetti
Keyword(s):  
Case Report ◽  
Cerebellopontine Angle ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Increased Risk ◽  
Facial Numbness ◽  
History Of ◽  
Pain Patients

Abstract Introduction Glioblastoma multiforme (GBM) is the most common primary brain malignancy in adults and is typically in the supratentorial cerebral hemispheres. It has been reported to occur in the posterior fossa at the cerebellopontine angle (CPA), but the incidence is extremely rare. Case Report We report a case of a patient with a history of neurofibromatosis type I (NFI) diagnosed with a GBM arising in the CPA after presenting with facial numbness and pain. Patients with NFI are known to have an increased risk of developing both benign and malignant tumors, including a propensity for brainstem gliomas. However, there is no known association between NFI and tumors of the CPA. We believe this is the first reported case of a GBM of the CPA in a patient with NFI. Conclusion Although rare, GBM should be included in the differential diagnosis of a patient with a CPA tumor, especially in patients with increased risk of malignant pathology.

scholarly journals Duodenal neuroendocrine tumour in a young patient with von Recklinghausen disease

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Cláudia Leite ◽  
Júlio Constantino ◽  
Daniela Melo Pinto ◽  
José Carlos Pinto ◽  
Milene Sá ◽  
...  
Keyword(s):  
Neuroendocrine Tumour ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Von Recklinghausen Disease ◽  
Café Au Lait Spots ◽  
Increased Risk ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

Abstract Von Recklinghausen disease (neurofibromatosis type 1—NFT1) is a genetic disorder with autosomal dominant inheritance pattern, caused by mutation of a tumour suppressor gene. Its main features include multiple cutaneous café-au-lait spots and neurofibromas. It is associated with an increased risk of developing neuroendocrine tumours, for instance, in the duodenum. The authors present a case of a 23-year-old male patient admitted to the emergency department due to persistent vomiting. Imaging and biopsy studies revealed an obstructive and large duodenal neuroendocrine tumour; hence the patient underwent a pancreaticoduodenectomy.

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