scholarly journals Natural History of Scoliosis in Children with NF1: An Observation Study

Healthcare ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 881
Author(s):  
Giuseppe Toro ◽  
Claudia Santoro ◽  
Daniele Ambrosio ◽  
Giovanni Landi ◽  
Martina Scilipoti ◽  
...  
Keyword(s):  
Natural History ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Inclusion Criteria ◽  
Observation Study ◽  
History Of ◽  
Male To Female

(1) Background. Scoliosis is the most common musculoskeletal manifestation of Neurofibromatosis type 1 (NF1), and it might be dystrophic (D) or non-dystrophic (ND) depending on the presence of dysplastic changes of the spine. The aim of our study was to describe the characteristics and natural history of patients with NF1 and scoliosis. (2) Methods. We retrospectively reviewed records from patients with NF1 and scoliosis. Scoliosis was classified as D if at least two dystrophic changes were documented at imaging. (3) Results. Of the 438 patients reviewed, 43 fulfilled inclusion criteria; 17 were classified in D group and 26 in ND. The groups did not differ in age and localization of scoliosis curvature. Surgery was needed more often in D group, but the between-group difference was not significant. Male-to-female ratios of 3:1 and 4:1 were reported in surgically treated NF1 patients with ND and D scoliosis, respectively. (4) Conclusions. Our data suggests independently by the presence of dysplastic changes affecting the spine that males with NF1 are more often affected by scoliosis that requires surgery.

scholarly journals Natural history of acute lymphoblastic leukemia in neurofibromatosis type 1 monozygotic twins

Leukemia ◽  
2013 ◽  
Vol 27 (8) ◽  
pp. 1778-1781 ◽  
Author(s):  
M Galbiati ◽  
A Lettieri ◽  
C Micalizzi ◽  
S Songia ◽  
C Morerio ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Natural History ◽  
Neurofibromatosis Type 1 ◽  
Lymphoblastic Leukemia ◽  
Monozygotic Twins ◽  
Neurofibromatosis Type ◽  
History Of

Brain metastasis of Wilms tumor with diffuse anaplasia and complex cytogenetic phenotype in a child with neurofibromatosis Type 1

2011 ◽  
Vol 8 (4) ◽  
pp. 353-356
Author(s):  
Marianna Shvartsbeyn ◽  
Luigi Bassani ◽  
Irina Mikolaenko ◽  
Jeffrey H. Wisoff
Keyword(s):  
Brain Metastasis ◽  
Neurofibromatosis Type 1 ◽  
Wilms Tumor ◽  
Metastatic Tumor ◽  
Neurofibromatosis Type ◽  
Radiological Features ◽  
First Case ◽  
History Of ◽  
The Brain

The authors report the first case of a Wilms tumor (WT) with diffuse anaplasia metastatic to the brain in a 13-year-old girl with a history of neurofibromatosis Type 1. At presentation, the metastatic tumor had radiological features that suggested a meningioma. Histologically it was characterized by striking anaplasia and features similar to the patient's previously resected WT with diffuse anaplasia.

scholarly journals Multiple Gastric Gastrointestinal Stromal Tumors in a Patient with Neurofibromatosis Type 1

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Makoto Tomatsu ◽  
Jun Isogaki ◽  
Takahiro Watanabe ◽  
Kiyoshige Yajima ◽  
Takuya Okumura ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitor ◽  
Submucosal Tumor ◽  
Neurofibromatosis Type ◽  
Stromal Tumors ◽  
Serosal Surface ◽  
History Of ◽  
Small Intestinal

Gastrointestinal stromal tumors (GISTs) are relatively common in neurofibromatosis type 1 (NF 1) patients. Approximately 90% of GISTs associated with NF 1 are located in the small intestine, while sporadic GISTs are most commonly located in the stomach. Here we report an extremely rare case of an NF 1 patient with multiple gastric GITs (90 or more) but without multiple small intestinal tumors. A 63-year-old female patient who had a history of NF 1 underwent surgery for a gastric neuroendocrine tumor and gastric submucosal tumor (SMT). During the operation, multiple small nodules were identified on the serosal surface of the upper stomach. SMT and multiple nodules on the serosal surface were diagnosed as GISTs consisting of spindle cells positive for KIT, CD34, and DOG-1. Both GIST and the normal gastric mucosa showed no mutations not only in the c-kitgene (exons 8, 9, 11, 13, and 17) but also in thePDGFRAgene (exons 12, 14, and 18). This patient is being followed up without the administration of a tyrosine kinase inhibitor.

scholarly journals A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis

2021 ◽  
Author(s):  
Yasmine Makhlouf ◽  
Soumaya Boussaid ◽  
Houda Ajlani ◽  
Samia Jemmali ◽  
Sonia Rekik ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Fibroblast Growth Factor 23 ◽  
Neurofibromatosis Type ◽  
High Dose ◽  
Rare Tumour ◽  
Appropriate Treatment ◽  
History Of ◽  
Von Recklinghausen ◽  
Hypophosphataemic Osteomalacia

Background: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated. Patients and methods: We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia. Results: The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement. Conclusion: Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment.

scholarly journals Establishing the diagnosis neurofibromatosis type 1: A rare case

2019 ◽  
Author(s):  
Dyatiara Devy ◽  
D. Damayanti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
De Novo ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Multisystem Disorder ◽  
Wide Range ◽  
Multidisciplinary Clinic ◽  
History Of

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a dominantly inherited genetic, multisystem disorder. Individuals with neurofibromatosis type 1 are prone to develop benign and malignant tumors of the CNS and peripheral nervous system, in addition to malignant diseases affecting other parts of the body. About 50% of individuals with neurofibromatosis type 1 have no family history of the disease and the disease is due to de novo (spontaneous) mutations. Early diagnosis is challenging because of its extremely variable characteristics. Some individuals may be mildly affected showing minimal signs, whereas others are severely afflicted. Individuals with NF-1 are best cared for within a multidisciplinary clinic, which has access to a wide range of subspecialists. The dermatologist has a role not only in the diagnosis of NF1 and differentiating it from other similar disorders, but also in the recognition of rare associated skin manifestations.

scholarly journals Nonoptic pathway tumors in children with neurofibromatosis type 1

Neurology ◽  
2020 ◽  
Vol 95 (8) ◽  
pp. e1052-e1059 ◽  
Author(s):  
Jasia Mahdi ◽  
Manu S. Goyal ◽  
Jennifer Griffith ◽  
Stephanie M. Morris ◽  
David H. Gutmann
Keyword(s):  
Natural History ◽  
Neurofibromatosis Type 1 ◽  
Radiographic Progression ◽  
Progression Free Survival ◽  
Neurofibromatosis Type ◽  
Tumor Location ◽  
Age At Diagnosis ◽  
Optic Pathway Glioma ◽  
Cross Sectional

ObjectiveTo define the radiologic features and natural history of nonoptic pathway tumors (non-OPTs) in children with neurofibromatosis type 1 (NF1).MethodsWe performed a retrospective cross-sectional analysis of 64 children with NF1 harboring 100 probable non-OPTs. Age at diagnosis, sex, tumor location, number of tumors, symptomology, concurrent OPT, radiographic progression (defined as qualitative and quantitative increases in size), and treatment were assessed. Tumor volumes were measured from initial presentation until treatment or end of disease progression.ResultsSixty-three percent of probable non-OPTs progressed over time, where radiographic progression was concomitantly associated with clinical progression. Fifty-two percent of patients had incidentally identified probable non-OPTs. Twenty-five percent of patients were symptomatic at initial diagnosis, all of whom harbored tumors that grew on subsequent scans and required tumor-directed therapy. There were no clinical differences between probable non-OPTs localized to the brainstem vs other locations with respect to age, sex, concurrent optic pathway glioma, symptomology, and treatment. The average time from diagnosis to stabilization or decrease in tumor size was 2.34 years (SD, 2.15 years). Nineteen biopsied lesions were all histopathologically confirmed as tumor. Six children (9%) had deep extensive tumors, who presented earlier (mean age at diagnosis, 3.88 years), required multiple treatments, and had a shorter mean progression-free survival (48 months).ConclusionsOver half of children with NF1 in this study developed probable non-OPTs, the majority of which were clinically and radiographically progressive. While brainstem and nonbrainstem gliomas share similar clinical features and natural history, deep extensive tumors comprise a distinct aggressive group of tumors that warrant close attention.

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