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Contents:
  1. Neurofibromatosis Type I
  2. RACGP - Neurofibromatosis type 1
  3. Why with us

NF-1 can be diagnosed clinically in individuals showing two or more of the clinical criteria 2.

Neurofibromatosis Type I

Additional reports were also found through Google search. Paediatric, non-human, non-English and duplicate publications were excluded. Any conference paper was included only if sufficient information was available within the abstract. A diagnosis of hypertension was assigned to patients stated to have such a diagnosis or described as being on anti-hypertensive medications. Classical PHAEO symptoms were defined as the presence of any of the followings: headaches, palpitations and sweating 9.


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We looked into the patients demographics, mode of presentation and the occurrence of death, metastases or any adverse cardiovascular complications attributed to hypertensive crisis or circulating catecholamines. Thirty-six patients did not report any of the typical symptoms and 27 patients were normotensive prior to the diagnosis.

Data on the mode of presentation were available in 66 patients: 44 patients were diagnosed incidentally, 12 and 10 patients were diagnosed due to the presence of symptoms or persistent hypertension, respectively. No tumour was found by routine biochemical surveillance.

RACGP - Neurofibromatosis type 1

Y -axis: reported symptoms, X -axis: number of patients. Citation: Endocrine Connections 7, 10; Thirty-one patients had major complications including metastases, death and cardiovascular sequelae i. Similar findings were reported in one study 10 which compared the age of presentation in NF-1 to that of other genetic syndromes and found that NF-1 patients are often diagnosed at an older age presumably due to lack of routine screening.

Intra and post-partum complications including arrhythmia, pulmonary oedema, hypertensive crisis and even death have been reported 12 , Early diagnosis is challenging because of the variable characteristics of NF1. The genetic disorder that is Neruofibromatosis Type 1 originates from the NF1 gene that is located in the long arm of chromosome While the role of the NF1 gene is not fully understood, it is known, however, that it produces the protein product neurofibromin.

Neurofibromin indirectly dictates cell growth and division, at especially high levels in the nervous system predominately as a suppressor. In individuals with Neurofibromatosis Type 1, neurofibromin is not produced in sufficient quantities to inhibit cell growth and thus, neruofibromas form along the nerves.

Background

Musculoskeletal: Children with NF1 have been shown to have significantly lower motor proficiency than there peers without NF1. NF1 patients also have spinal malalignments resulting in scoliosis and a tendency to have long bone bowing in such bones as the tibia. Dermatological: Patient's with NF1 may develop a variety of cutaneous finding. Cafe-au-lait macules, Nerofibromas, skin freckling are all physical presentations associated with NF1.

Other cutaneous findings include juvenile xanthogranuloma, glomus tumor, melanoma, nevus anemicus, and Pruritus.


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  • Individuals with Optic Gliomas may present with eye proptosis, decreased visual acuity, nystagmus, and optic disk atrophy. Heart disease occurs at a higher than expected rate than the general public. Vasculopathies include stenosis, aneurysms, and arteriovenous malformations. High blood pressure is significantly associated with NF1.

    Neurofibromatoses in Clinical Practice

    The most common cause of hypertension in the pediatric population is stenosis of the renal arteries. Blood pressure should be monitored annually. Children with NF1 have had noted delays in speech and language as well as motor development. There is a proposed relationship between unidentified bright objects on MRI and cognitive function but researchers are unsure of their clinical significance. Currently there is no treatment for the underlying cause of Neurofibromatosis Type 1.

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