Objective: Our study aims to evaluate the clinical findings of childhood neurofibromatosis type 1 cases. Material and Methods: The features patients who were followed up treated by Pamukkale University Faculty Medicine, Department Pediatric Neurology between 2015 2023 evaluated retrospectively. Results: 39 children included in study. Twenty-one cases male 18 female. mean age was 11.71±4.05 year...

Neurofibromatosis type 2 (NF2), earlier known as bilateral acoustic neurofibromatosis, is an autosomal dominant disorder considered by the development of multiple tumours. It caused mutations in NF2 gene present at long arm chromosome number 22 (22q12.2) which encodes for merlin protein (tumour suppressor gene), found schwann cells involved interaction cell with extracellular matrix after bindi...

Neurofibromatosis type 2 is an inherited autosomal dominant syndrome, characterized by multiple neoplasms of the central and peripheral nervous system associated with ocular abnormalities. The most common tumor associated with the disease is the vestibulocochlear schwannoma (VIII cranial nerve), and as many as 10% of patients with this tumor have neurofibromatosis type 2. In this report we aim ...

Gastrointestinal involvement is noted in up to 25% of patients with neurofibromatosis. Most neurofibromas of the gastrointestinal tract are noted in the stomach and duodenum, the colon can be involved rarely. Most of these occur as a part of colonic involvement in NF1. Solitary neurofibroma of the colon is extremely rare. We present the case of a 13-year-old female having an isolated rectal neu...

BACKGROUND Gastrointestinal stromal tumours are rare (GIST). However, the incidence of GIST among neurofibromatosis type 1 (NF-1) patients is approximately 3.9-25%. GIST can present clinically in different ways such as abdominal pain, gastrointestinal bleeding and obstruction. CASE REPORT We present 51 year female patient admitted with Background of neurofibromatosis type 1 admitted with mele...

From the Department of Obstetrics and Gynecology, Pt B D, Sharma PG Institute of Medical Sciences, Rohtak , Haryana , India. Corspondence to : Dr Neetu Sangwan, Aastha Hospital, 223/22,Vikas Nagar, Rohtak -124001, Haryana , India. Abstract Neurofibromatosis (NF), a genetic disorder, has increased risk of obstetric complications as well as aggravation of maternal disease. However, here is a case...

Plexiform neurofibroma is a rare, poorly defined benign tumor of the peripheral nerve sheath. It spreads out just under the skin, or deeper in the body, and occurs exclusively in patients with neurofibromatosis type I. Facial plexiform neurofibroma may produce various degrees of cosmetic and functional deformities in the head and neck region. It is a virtually pathognomonic and often disabling ...

A relatively new imaging technique, q-space imaging (QSI), uses multiple b-values to generate displacement profiles of diffusing molecules. Unidentified bright objects observed in children affected by neurofibromatosis have been reported to display increased apparent diffusion coefficient values compared to normal-appearing brain regions. To our knowledge this is first report of the findings of...

Increased propensity for tumor formation in neurofibromatosis and tuberous sclerosis exists because of defective tumor-suppressor genes. Although different tumor-suppressor genes may be involved in neurofibromatosis and tuberous sclerosis, at the cellular level these genes share rather common enzymatic pathways. We believe these genetic malfunctions have resulted in a cumulative or additive eff...

Background: For patients with neurofibromatosis type 2 (NF2), maintaining an independent state of living is important. The present study aimed to examine the loss social independence (i.e., a status that can work and go school) its contributing factors in NF2 using data from national registry Japan.