An Abdominal mass in a Patient with Neurofibromatosis Type 1

Source: Clinical Gastroenterology and Hepatology - Category: Gastroenterology Authors: Source Type: research

Related Links:

ConclusionsThis clinical case validates the ability of pelvic tractography to deliver a proper imaging of the sacral nervous network and emphasizes the potential usefulness of this approach in pelvic surgery management, with perspectives of image-guided surgery.
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
Publication date: Available online 16 July 2019Source: European Journal of Obstetrics &Gynecology and Reproductive BiologyAuthor(s): Jean-Marc Biard, Patricia Steenhaut, Pierre Bernard, Valérie Race, Yves SznajerAbstractAntenatal diagnosis of cardio-facio-cutaneous syndrome: prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. This paper is a case study and review of literature.“RASopathies” is the term coined for a group of genetic diseases that share modulation inside the MAPKinase pathway. Mutations inside the coding sequence of any of these genes may be responsible...
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
We report a rare autopsy case of neurofibromatosis type 1 ‐associated malignant peripheral nerve sheath tumor carcinomatous pleurisy with giant intrathoracic meningoceles. A 57 ‐year‐old man with neurofibromatosis type 1 (NF‐1) and intrathoracic meningoceles was admitted to hospital after presenting with neck pain and progressive dyspnoea. On admission, a chest computed tomography scan demonstrated right pleural effusion, neck tumour, intrathoracic meningoceles, and rib metastasis. The myelography showed no transportation between the intrathoracic meningoceles and pleural cavity. As a result, these radiological fin...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Report Source Type: research
Neurofibromatosis type-1 (NF1), also called von Recklinghausen disease, is a rare genetic disease which can lead to the development of benign or even malignant tumors. NF1 is mostly diagnosed in children or ea...
Source: Diagnostic Pathology - Category: Pathology Authors: Tags: Case Report Source Type: research
We examined clinical, electrophysiological, and radiological features associated with epilepsy in our NF1 series in order to identify risk factors.MethodsWe reviewed data of 641 pediatric patients with NF1 diagnosis according to National Institutes of Health (NIH) criteria in Hacettepe University records from January 2008–August 2018. Demographic features, NF1-related clinical and imaging characteristics, age at onset of epilepsy, seizure semiology, and frequency, electroencephalogram (EEG) findings, and response to treatment were noted.ResultsTwenty-six patients with NF1, 15 male, 11 female, had epilepsy. Age at sei...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
We present three cases of NF1 patients referred for 18F-fluorocholine PET/CT because of suspected glioma in the setting of ongoing FUMEGA (Functional and Metabolic Glioma Analysis) trial. One case turned out to be a WHO grade I ganglioglioma; the second was a high grade glioma; and the last one (negative in PET) a probable low-grade glioma.
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
ConclusionTaken together, these data illustrate the importance of TYK2 in MPNST pathogenesis and suggest that the TYK2 pathway may be a potential therapeutic target for these deadly cancers.
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
No study to date has followed disease progression in patients with neurofibromatosis type 1 (NF1), including the incidence of various manifestations, using a national registry. Here we examined the state of NF...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
l C Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder, characterized by cafe-au-lait macules, benign neurofibromas as well as malignant peripheral nerve sheath tumours, freckling in the axillary or inguinal regions, optic glioma and Lisch nodules (iris hamartomas) and further manifestations like bone deformities etc. Additionally, NF1 patients are at increased risk of early-onset cerebrovascular diseases, the pathogenesis of which has not been clarified yet. Here we report the first case of two siblings with NF1 who suffered an acute ischemic stroke. Professionals treating NF...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
AbstractA 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner ’s syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.9, (B) a large heterogeneous enhancing pelvic mass (C ) mesenteric adenopathy standardised uptake value max = 10.3 and (D) 6 cm right lung apex...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
More News: Brain | Gastroenterology | Neurofibromatosis | Neurology