Embryonal tumor with multilayered rosettes (ETMR) is an aggressive and infrequent brain neoplasm that primarily affects children under the age of 3 [ 1 , 2 ]. Despite numerous multimodal treatments, the survival rate is dismal, ranging from 19 to …

Acute and short angular kyphoscoliosis due to dystrophic change is a well-known sequela of neurofibromatosis type 1 (NF-1) [ 1 ]. Karikari et al. [ 2 ] radiographically classified severe spinal curvatures exceeding 180° into omega, gamma, and alpha …

Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome characterized by the development of both central and peripheral nervous system tumors. Low-grade glioma (LGG) is the most prevalent central nervous system tumor …

Neurofibromatosis type 1 (NF1) is a tumor predisposition syndrome genetically characterized by mutations in the NF1 tumor suppressor gene and clinically recognized through the development of multiple neurofibromas [ 1 ]. Much scientific progress …

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by proliferation of cells from neural crest origin. The most common manifestations are cutaneous, neurologic, skeletal and ocular. The distinction of NF1 from other …

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting 1 in 3000 individuals globally. While there are many clinical manifestations characteristic of NF1 including café-au-lait macules and skinfold freckling, some of …

Multidisciplinary conferences (MDCs) have become a mainstay in the management of cancer patients, as oncological conditions are often complex and necessitate coordinated care between diverse medical, surgical, and scientific specialties [ 1 – 4 ].

As a complex autosomal dominant disorder, neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 tumor suppressor gene, which not only affects the nervous system but also damages other organs and tissues [ 1 , 2 ]. With a …

Neurofibromatosis type 2 (NF2)-related schwannomatosis is a genetic disorder with an autosomal dominant inheritance caused by germline alterations in the NF2 tumor suppressor gene located on the long arm of chromosome 22 [ 1 , 2 ], affecting young …

Meningiomas and schwannomas are common types of benign intradural extramedullary tumors, accounting for 41% and 33% of all intraspinal tumors respectively [ 1 ]. However, it is extremely rare for both types to exist concurrently in a child without …

Neurofibromatoses (NF; NF1, NF2, Schwannomatosis) are a group of chronic genetic conditions that cause tumor growth in the nervous system [ 1 , 2 ]. NF is often characterized by high levels of emotional distress, pain, and decreased quality-of-life …

Neurofibromatosis is a genetic illness that causes nerve tumors. People with neurofibromatosis experience various physical symptoms, mental health difficulties, and overall lower quality of life. This study aimed to estimate values that represent …

Neurofibromatosis type 1 (NF-1; MIM #162200), also termed as von Recklinghausen disease, is a rare autosomal-dominant tumor predisposition genetic disease affecting approximately 1 in 3,000 live births with almost half of the cases being …

The term “juvenile-like (inflammatory/hyperplastic) mucosal polyps” (JLIHMP) has been recently introduced to describe a spectrum of polypoid lesions in patients with neurofibromatosis type 1 (NF-1). Due to the scarce number of reported cases and …

Neurofibromatosis type 1 (NF1; OMIM#162200) is an autosomal dominant genetic disorder caused by mutations in the NF1 gene (HGNC: 7765) located on chromosome 17q11.2 [ 1 , 2 ]. As a member of the RASopathies, its prevalence varies from 1 in 2000 to …

Tethered cord syndrome (TCS) is characterized by cutaneous attachments on the filum terminale of the spinal cord that “tether” it to surrounding tissues, impeding its normal movement within the spinal canal [ 1 ]. Patients may present with motor …