Background: Neurofibromatosis type 1 is an autosomal dominant transmitted disease with various forms of clinical presentation. It commonly affects the skin and the nervous system. Involvement of the genitourinary system is rare. The bladder is the most commonly affected organ in the urinary system. Vesicovaginal fistula presenting as continuous leakage of urine per vagina is a rare urogenital m...

Multiple tumours of peripheral nerves are often seen in patients with neurofibromatosis of type 1 or 2. Multiple schwannomas may occur without other manifestations of neurofibromatosis. We have reviewed 12 patients with multiple schwannomas arising from peripheral lesions who did not fulfil the criteria for either type of neurofibromatosis. Four had spinal and one an intracranial lesion in addi...

Spondylolisthesis associated with neurofibromatosis is rare, and only 12 cases have been reported so far. However, only one report of grade 4 spondylolisthesis with neurofibromatosis has been reported in the literature. A 15-year-old boy with neurofibromatosis was admitted for back pain and neurological claudication. Radiograph showed grade 4 spondylolisthesis of the L5 vertebra with scalloping...

Neurofibromatosis, as identified by yon Recklinghausen, is an autosomal dominant, neurocutaneous syndrome, characterized by multiple neurofibromas, cafe-au-lait spots, and iris Lisch nodules.1, 2 This disorder has also been referred to as the "Elephant Man" disease, and was the subject of a play and movie depicting the life of Joseph Merrick, who suffered severely from neurofibromatosis. 2 Othe...

Cancer appearance in some inherited diseases depends on the interactions with other genes. Lung cancer is rare in neurofibromatosis and has not been reported in Caucasian population. In this paper, we present the case of lung adenocarcinoma in a patient with neurofibromatosis, pseudoarthrosis of tibia, and autosomal dominant polycystic kidney disease. Cytogenetic analysis of the pleural effusio...

UNLABELLED Neurofibromatosis type 1 or von Recklinghausen's disease is one of the most common autosomal dominant genetic disorders. Between 29% and 77% of patients may suffer from a wide range of skeletal abnormalities and, thus, patients with neurofibromatosis frequently undergo skeletal scintigraphy, at which time the common peripheral nerve soft-tissue tumors that occur in this syndrome (neu...

A very rare case of subperiosteal bone proliferation described as 'a bone cyst' on the distal end of the tibia in association with neurofibromatosis is reported in a 9-year-old girl. The pathological finding progressed within 6 months from 'a cyst-like bone lesion' filled with haematoma to 'a bony protuberance' and is documented with plain X-rays, CT and MRI, and subperiosteal haemorrhage on th...

Children with neurofibromatosis type 1 are at increased risk for the development of attention problems relative to their unaffected peers. Previous studies have reported deficits in sustained auditory attention, but other aspects of attention, including sustained visual attention, divided attention, response inhibition, and selective attention, have not been consistently documented. In the pres...

Descriptions of individuals supposed to have neurofibromatosis have been discovered in manuscripts dating from 1000 AD (Zanca, 1980). However, it was not until 1881 that Von Recklinghausen coined the term ‘‘neurofibroma’’ when he observed that this benign tumour arose from the peripheral nerve sheath. His colleagues honored his contribution by naming the condition Von Recklinghausen’s disease. ...

Children with neurodevelopmental disorders are at increased risk for sleep issues, which affect quality of life, cognitive function, and behavior. To determine the prevalence of sleep problems in children with the common neurodevelopmental disorder neurofibromatosis type 1, a cross-sectional study was performed on 129 affected subjects and 89 unaffected siblings, age 2 to 17 years, using the Sl...