Neurofibromatosis 1 in childhood

doi:10.1016/S1071-9091(98)80002-8

Seminars in Pediatric Neurology

Volume 5, Issue 4, December 1998, Pages 231-242

https://doi.org/10.1016/S1071-9091(98)80002-8 Get rights and content

Neurofibromatosis 1 (NF1) is an autosomal-dominant disorder with an incidence of approximately 1 in 3,000. The cardinal features of the disorder are cafe au lait spots, axillary freckling, cutaneous neurofibromas, and iris hamartomas (Lisch nodules). Common complications include learning disability, scoliosis, and optic gliomas. Other complications (eg, peripheral nerve malignancy, bony deformities, and epilepsy) are individually rare. The mainstay of care for patients with NF1 is anticipatory guidance, and the early detection and symptomatic treatment of disease complications. Counseling of patients and their families should provide a realistic overview of possible disease complications, while emphasizing that most individuals with NF1 lead healthy and productive lives. The gene for NF1 has been identified, and future cell biology research will focus on understanding the pathogenetic mechanisms that underly the diverse manifestations of the disorder.

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Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that occurs in approximately 1 in 4000 births and that results from mutations in the NF1 gene that encodes the tumor suppressor protein neurofibromin 1 [1]. Epilepsy is a potential complication of NF1 [1–4]. The full spectrum of the underlying etiologies and clinical features of NF1-associated epilepsy are just starting to be fully characterized [5–8].
To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1).
Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period.
Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Of the 26, 17 (65%) had localization-related epilepsy, seven of whom (41%) were drug resistant. Six (23%) had apparently primary generalized epilepsy (0/6 drug resistant), two (8%) Lennox-Gastaut syndrome, and one (4%) West syndrome (all three were drug-resistant). As compared to the patients with no epilepsy, those with epilepsy were more likely to have MRI findings of mesial temporal sclerosis (MTS) (23% vs. 5%, p = 0.0064), and cerebral hemisphere tumors (31% vs. 10%, p = 0.0079), but not of the other MRI findings including neurofibromatosis bright objects, or optic gliomas. Three of the six patients with MTS underwent temporal lobectomy with subsequent control of their seizures with confirmation of MTS on pathology in 3/3 and presence of coexisting focal cortical dysplasia (FCD) in 2/3. We also have observed three additional patients outside the above study with the association of NF1, MTS, and intractable epilepsy.
Epilepsy is relatively common in NF1, often occurs in patients with brain tumors or with MTS which can coexist with FCD, can be associated with multiple types of epilepsy syndromes, and when localization-related is often drug-resistant. Patients with NF1 and MTS can respond to medial temporal lobectomy and may have coexisting medial temporal lobe cortical dysplasia.
The use of electrodessication in the treatment of cutaneous neurofibromatosis: A retrospective patient satisfaction outcome assessment
2016, Journal of Plastic, Reconstructive and Aesthetic Surgery
Citation Excerpt :
Neurofibromatosis I (NF1) is an autosomal dominant disease seen in approximately one in 2600 to one in 3000 live births.1–4
Neurofibromatosis I (NF-1) is an autosomal dominant disease giving rise to hundreds of cutaneous neurofibromas. In addition to localised symptoms such as pain and pruritus, these lesions can have a devastating psychosocial impact. To date, there is no consensus on the optimal management of these lesions. We present the clinical and patient-reported outcomes of a series of NF-1 patients treated with electrodessication by one surgeon.
All patients treated by electrodessication for cutaneous neurofibromas between 2012 and 2015 by one clinician were retrospectively reviewed. Clinical and patient-reported outcomes were measured using a patient satisfaction questionnaire and review of the notes.
Six patients were operated on during the study period (five women and one man). Prior to this new technique, patients had on average eight episodes (range 4–20) of excisional procedures under local anaesthesia removing one to five lesions. With electrodessication, patients had on average three (range 1–5) electrodessication episodes under general anaesthesia, treating hundreds of lesions per session. All patients were treated as a day case. One patient experienced a minor wound infection and another minor bleeding. Five of six patients preferred electrodessication to surgical excision.
Electrodessication enables the treatment of hundreds of neurofibromas in a single operation. The procedure has low complication rates with high levels of clinical and patient-reported outcomes.

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Neurofibromatosis 1 in childhood

J Neurol Sci

J Pediatr

J Pediatr

J Pediatr

Cell

Cell

J Pediatr

Von Recklinghausen neurofibromatosis: A clinical and population study in south east Wales

Brain

Neurofibromatosis. Phenotype, natural history and pathogenesis

Neurofibromatosis type 1: Establishment of a clinic and review of the first 200 patients

J Child Neurol

NF 1: A prevalent cause of tumorigenesis in human cancers?

Nature Genetics

Consensus Statement Revisited, in Mulvihill JJ (moderator): Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): An update

Ann Intern Med

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2

JAMA

Type 1 neurofibromatosis and the pediatric patient

Curr Probl Pediatr

Diagnostic outcome in children with multiple cafe au lait spots

Pediatrics

Relationship between cafe au lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up study

Éur J Pediatr

The diagnosis of neurofibromatosis type 1 in the child under the age of six years

Am J Dis Child

Lisch nodules in neurofibromatosis type 1

N Engl J Med

Recent developments in the diagnosis and management of neurofibromatosis

Arch Dis Child

Neurofibromatosis type 1 in childhood

The operative management and treatment of von Recklinghausen's neurofibromatosis in children with special reference to lesions of the head and neck

Surgery

Plexiform neurofibroma in patients with Neurofibromatosis type 1: A phase II randomized trial of 13-cis retinoic acid and interferon alpha-2A

Med Pediatr Oncol

Learning difficulties in neurofibromatosis type 1: The significance of MRI abnormalities

Neurology

Neuropsychological profile of children with neurofibromatosis, brain tumor or both

J Child Neurol