Neurofibromatosis type 1 and type I Chiari malformation: an unusual association

1996 ◽  
Vol 12 (6) ◽  
pp. 336-338 ◽  
Author(s):  
P. A. Battistella ◽  
G. Perilongo ◽  
C. Carollo
1993 ◽  
Vol 32 (3) ◽  
pp. 189-190 ◽  
Author(s):  
Joseph Dooley ◽  
Daniel Vaughan ◽  
Michael Riding ◽  
Peter Camfield

The association of neurofibromatosis type 1 (NF1) with Chiari malformations of the cerebellum and brain stem has been reported on only two previous occasions.1,2 The pathogenesis of both conditions has remained unclear, although the Chiari type I malformation is most likely due to hypoplasia of the posterior fossa with subsequent extension of the cerebellum through the foramen magnum.3 NF1 is also associated with a variety of cerebral dysplasias.4 We present a patient with both of these dysplastic lesions whose Chiari malformation was asymptomatic.


2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Nicholas Calvin

Introduction: Neurofibromatosis type 1 is a rare genetic disorder that is characterized by the growth of noncancerous neurocutaneous tumors that form near the spinal cord and along the peripheral nerves in the body. Symptoms NF-1 are usually detected in infancy or early childhood. However, in some cases, children and adults without family history may have a spontaneous genetic mutation of unknown cause. There are several modalities to treat NF-1, which include conventional surgery removal and CO2 laser ablation. The review of literature aims to compare the efficacy and outcomes of these two modalities. Case presentation: A 32-year old post-partum Australian woman is presented to the neurosurgery department outpatient clinic. When she was around 20-year old, non-painful multiple noncancerous growth along her spine and peripheral nerves and multiple café-au-lait spots started to appear. The size and numbers of growth and spots are gradually increasing as she aged. The diagnosis of NF-1 was made according to the presence of four of the seven diagnostic criteria of the National Institute of Health Consensus Development Conference. Patient is scheduled to go to NF clinic 2 months after the meeting, in which the patient is planned to undergo a treatment of CO2 laser ablation. Conclusions: Studies have shown that CO2 has outperformed conventional surgery in managing the clinical manifestation of NF-1 in term of effectivity and cosmetic outcomes.  Keywords: neurofibromatosis type I, von Recklinghausen’s disease, adult, post-partum woman, CO2 laser ablation


Development ◽  
1995 ◽  
Vol 121 (11) ◽  
pp. 3583-3592
Author(s):  
T. Rosenbaum ◽  
Y.L. Boissy ◽  
K. Kombrinck ◽  
C.I. Brannan ◽  
N.A. Jenkins ◽  
...  

To identify cell type(s) that might contribute to nerve sheath tumors (neurofibromas) in patients with neurofibromatosis type 1, we generated cell cultures containing neurons. Schwann cells and fibroblasts from transgenic mouse embryos in which the type 1 neurofibromatosis gene was disrupted by homologous recombination (Brannan et al. (1994) Genes Development, 8,1019-1029). Normal fascicle formation by perineurial cells failed to occur in the absence of neurofibromin. Fascicles were reduced in number and showed abnormal morphology when normal neurons and Schwann cells were cultured up to 37 days with fibroblasts lacking neurofibromin. Proliferation was increased in a majority of fibroblast cell strains analyzed from embryos lacking neurofibromin. These observations suggest that mutations in the neurofibromatosis type I gene affect fibroblast behavior that might contribute to neurofibroma formation in patients with neurofibromatosis type 1.


2010 ◽  
Vol 41 (02) ◽  
Author(s):  
N Plümpe ◽  
T Rosenbaum ◽  
K Wimmer ◽  
F Kämmerer ◽  
C Finetti

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Bayram Ozhan ◽  
Ali Aykan Ozguven ◽  
Betül Ersoy

Neurofibromatosis type 1 is a multisystemic disease. It may manifest as abnormalities of the nervous tissue, bones, soft tissue, or skin. Autoimmune disease associated with NF1 can be seen. Diabetes mellitus is rarely seen in association with NF1. Here, we report a case with established NF1 who also had a diagnosis of diabetes mellitus.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Andreea S Marinescu ◽  
Elizabeth A Suarez

Abstract Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystemic disorder characterized by an increased risk of benign and malignant tumor formation affecting skin, bone and nervous system. In children with NF1, endocrine manifestations include central precocious puberty, growth hormone deficiency and growth hormone hypersecretion, resulting from complications of optic pathway gliomas involving the hypothalamic and sellar region. A few reports of adults with NF1 have been described to have hypoglycemia due to insulinoma. However, hypoglycemia due to hyperinsulinism has not been described in children with NF1. We present a case of NF1 diagnosed during neonatal period associated with congenital hyperinsulinism. Case: Patient was delivered at 36 weeks by C- section with birthweight of 2780 grams which was appropriate for her gestational age. There was no maternal history of diabetes. Pertinent exam findings included microcephaly and multiple café-au-lait spots. She developed hypoglycemia at DOL1 with blood glucose of 26 mg/dl which normalized with IV dextrose at a glucose infusion rate of 6 mg/kg/min. At DOL8, an attempt to wean IV dextrose failed and she developed hypoglycemia with blood glucose of 47 mg/dl. Critical sample showed insulin level 3.3 uU/ml, betahydroxybutyrate 0.08 mg/dl (0.2-2.8), cortisol 18.1 mcg/dL and GH 13.2 ng/mL. A glucagon stimulation test showed an increase in glucose of 30 mg/dl. She was diagnosed with hyperinsulinism and started on Diazoxide (8 mg/kg/day) with improvement of blood glucose with prefeed glucose of > 70 mg/dl. She had normal 8- hour fasting tolerance with all BG > 70 while on Diazoxide. Genetic test for known mutations causing hyperinsulinism was negative. Microarray confirmed a 1.42Mb interstitial deletion at chromosome 17q11.2 which encompasses NF1 gene confirming the diagnosis of NF1. Additionally, she has an Xp22.33 duplication of uncertain clinical significance. Conclusion: Our patient presented with an unusual association between congenital hyperinsulinism and NF1. Further testing needs to be performed to determine whether this association is coincidental or whether congenital hyperinsulinism is a rare manifestation of NF1.


2019 ◽  
Vol 54 (2) ◽  
pp. 182-190 ◽  
Author(s):  
Joel Raborn ◽  
Benjamin J. McCafferty ◽  
Andrew J. Gunn ◽  
Sherif Moawad ◽  
Khalid Mahmoud ◽  
...  

Purpose: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder found in approximately 1 of every 3000 individuals. Neurofibromatosis type 1 can have vascular manifestations including aneurysms, stenoses, and arteriovenous malformations. The purpose of this article is to describe the clinical manifestations of NF1 vasculopathy, discuss therapeutic options, and highlight endovascular therapies from our institutional experience. Materials and Methods: The radiology information system was searched for cases of NF1. Cases with vasculopathy managed with endovascular therapies were included. Demographics, clinical histories, procedural details, and outcomes were recorded. A review of the literature for the management strategies of NF1 vasculopathy was performed. Results: Two pediatric patients with NF1 were identified, both of whom presented with hypertension found to be secondary to renal artery stenosis. One of the patients also had infrarenal aortic narrowing. Both patients were successfully treated with balloon angioplasty, resulting in improved blood pressures. The review of the literature identified case series of pharmacologic, surgical, and endovascular therapies, although, endovascular therapies appear to be preferred due to lower morbidity and mortality. Conclusions: NF1 vasculopathy is a rare condition that most often presents with hypertension due to renal artery stenosis. In these situations, endovascular management is the preferred approach.


2021 ◽  
Vol 9 (5) ◽  
pp. 832-837
Author(s):  
Kawther Hadhiah ◽  
◽  
Abdulla Al-Fajri ◽  
Hassan Ali Al-Dandan ◽  
Jumana Al-Atiya ◽  
...  

Background: Neurofibromatosis type I(NF1) is a neurocutaneous autosomal dominant disorder that has variable skin and neurological manifestation and Multiple sclerosis (MS) is not among these neurological sequalae of Neurofibromatosis. Only 26 cases have been reported worldwide to have the combination of these two neurological diseases, and none of them from Saudi Arabia.We are presenting a young lady who was diagnosed to have Multiple Sclerosis, Relapsing remitting form as she is fitting the clinical and the radiological criteria, and by the age of 29 years, she was thoroughly investigated for multiple café au lait spot lesions in the trunk and neurofibromas and history of childhood seizures. Case Presentation:29-year-old lady who was diagnosed to have Relapsing- Remitting Multiple Sclerosis (RRMS) 7 years ago as she is fulfilling the clinical and radiological criteria of Multiple sclerosis and maintained on Interferon beta 1a 44 mcg subcutaneous every other day then shifted to Fingolimod. Upon encountering her in the clinic, there were multiple café au lait spot lesions in the trunk and neurofibromas. Genetic testing showed pathogenic nonsense variant c.574C>T p.(Arg192*) in exon 5 of the NF1 gene. Conclusion:Relapsing remitting form of multiple sclerosis (RRMS) can be associated with Neurofibromatosis type 1(NF1), not only progressive form and NF1 can be related to spontaneous mutation in 50% of cases (no family history).


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