Edit concept Question Editor Create issue ticket

Neurofibromatosis Type 6

NF6


Presentation

  • Half of the patients diagnosed presented with symptoms that included vision loss, proptosis, and precocious puberty.[healio.com]
  • He was awarded the 1st Distinguished Neurology Alumnus Award of the Neurological Institute; Columbia University Medical Center; 1994.He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present[books.google.com]
  • The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Type 1 tends to present in childhood or adolescence, whilst type 2 usually presents in adults aged under 40 years, and mostly in the 20s.[patient.info]
  • Although the genetic change causing NF1 is present at conception, clinical manifestations may appear slowly over many years.[emedicine.medscape.com]
Asymptomatic
  • The authors found that 14 of the 15 children initially found to have an optic glioma by routine screening MRI were asymptomatic and remained so for the duration of the study. Their findings support the AAP position against routine MRI screening.[healio.com]
  • Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal[ncbi.nlm.nih.gov]
  • They are often asymptomatic but, over time, tumours may cause visual acuity loss, abnormal colour vision, visual field loss, squint, pupillary abnormalities, pale optic disc, proptosis and hypothalamic dysfunction.[patient.info]
  • Rarely, coronary artery aneurysms are identified in symptomatic or even asymptomatic individuals with NF1. [14] Short stature is common in NF1; affected individuals are often shorter than their unaffected siblings.[emedicine.medscape.com]
Precocious Puberty
  • Half of the patients diagnosed presented with symptoms that included vision loss, proptosis, and precocious puberty.[healio.com]
  • Puberty usually occurs at a normal age, but precocious puberty with growth acceleration may occur in a small number of individuals.[emedicine.medscape.com]
  • It is indicated for optic nerve pallor, visual changes, proptosis, or precocious puberty. Consider MRI scans of the head if headaches increase in frequency or intensity over time. Brain tumours are more common in NF2 than in NF1.[patient.info]
  • Sexual development may be delayed or may occur early (precocious puberty) in individuals with NF1. (For more information on this disorder, choose “precocious puberty” as your search term in the Rare Disease Database.)[rarediseases.org]
Fishing
  • University School of Medicine, this text is a thorough review of the specific molecular genetic techniques that can provide diagnostically useful molecular genetic information on tissue samples—including cytogenetics, fluorescence in situ hybridization (FISH[books.google.com]
  • NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 2000;66:100-9. Google Scholar 9. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis.[degruyter.com]
Surgical Procedure
  • Surgical procedures and prognostic factors for local recurrence of soft tissue sarcomas. Sugiura H, Nishida Y, Nakashima H, Yamada Y, Tsukushi S, Yamada K. J Orthop Sci. 2014 Jan;19(1):141-9.[meidai-seikei.jp]
Juvenile Cataract
  • A first-degree relative with NF2 for an individual with at least two of the following: Meningioma Glioma Schwannoma Juvenile cataracts Dermal features Café-au-lait spots are often the first findings in NF1.[patient.info]
Visual Impairment
  • Young children rarely complain of early visual impairment and sometimes it is not picked up until it is advanced, with bilateral visual loss.[patient.info]
  • Such children may have little in the way of other neurologic findings, but can have macrocephaly, intermittent lethargy, and visual impairment.[ 3 ] Diagnostic Evaluation The diagnostic evaluation for astrocytoma is often limited to a magnetic resonance[cancer.gov]
Cafe-Au-Lait Spots
  • MalaCards based summary : Autosomal Dominant Café Au Lait Spots, also known as neurofibromatosis type 6, is related to cafe-au-lait spots, multiple and pulmonary valve disease.[malacards.org]
  • The cafe-au-lait spots in themselves are harmless. It is not unusual for them to be passed off as mere “birthmarks”. Indeed, anyone can have 1 or 2 cafe-au-lait spots without having neurofibromatosis.[nothing-is-forever.de]
  • Cafe - Au - Lait Spots, Multiple or NF-6 Victor A.[ibis-birthdefects.org]
  • To make the clinical diagnosis two or more of following are required 2 : 6 cafe au lait spots evident during one year two or more neurofibromas or one plexiform neurofibroma optic nerve glioma distinctive osseous lesion (such as sphenoid wing dysplasia[radiopaedia.org]
  • Diagnosis The diagnosis of NF1 is usually made during the first decade of life, based on characteristic skin freckling, cafe-au-lait spots, optic glioma, and/or pseudoarthrosis.[rarediseases.org]
Macula
  • One large café-au-lait macula under the breasts, and a lot of small, brown neurofibromas Figure 3. Patient No. 3. A lot of small neurofibromas on the trunk Figure 5.[deepdyve.com]
Suggestibility
  • The AAP does not suggest routine magnetic resonance imaging (MRI) screening for patients with NF1 because the incidence and morbidity from these slow-growing tumors is low.[healio.com]
  • Other clinical problems/complications may include: Gastrointestinal (GI) - abdominal bloating, pain, dyspepsia, haemorrhage and constipation may suggest a GI neurofibroma.[patient.info]
  • These results suggest that the NF2 gene participates in the oncogenesis in a subset of mesotheliomas but not in lung cancers. Footnotes 1 This work was supported by the Julie Gould Foundation (S. B.), the G. Harold and Leila Y.[cancerres.aacrjournals.org]
  • Cranial nerve abnormalities may suggest intracranial lesions (such as acoustic neuromas or malignancy) or multiple sclerosis. Otitis externa may be indicated by discharge at the external meatus or pain on moving the pinna.[racgp.org.au]
  • For those older than this or with a different type of Neurofibromatosis we suggest you contact www.nervetumours.org.uk who will be able to help you, and if you live in Scotland www.funnylumps.org support familes with those under 18 affected by NF.[childhoodtumourtrust.org.uk]
Headache
  • An MRI should be obtained if there are visual changes, persistent headaches, seizures, marked increase in head size, or a plexiform neurofibroma of the head, or for a small percentage of the NF1 population for whom a deletion of the entire NF1 gene and[healio.com]
  • It should be stressed that not all headaches in persons with neurofibromatosis mean that a brain tumor is present. Ordinary headaches, tension headaches and migraines, occur at least as commonly in persons with NF as in the general population.[nothing-is-forever.de]
  • Tinnitus, dizziness, facial numbness, balance problems and chronic headaches may also surface during the teenage years. Numbness may also occur in other parts of the body, due to spinal cord tumors.[genome.gov]
  • Interests Pediatric Neurology Cerebral palsy, Degenerative diseases of the nervous system, Developmental delay, Epilepsy/seizure disorders, Facial nerve palsy, Guillain-Barre syndrome, Infantile spasms, Infections of the nervous system, Migraines and headaches[pamf.org]
  • In the absence of other neurologic problems, the headaches, and sometimes also the stomach aches, are often due to migraine.[childneurologyfoundation.org]
Seizure
  • An MRI should be obtained if there are visual changes, persistent headaches, seizures, marked increase in head size, or a plexiform neurofibroma of the head, or for a small percentage of the NF1 population for whom a deletion of the entire NF1 gene and[healio.com]
  • […] and headaches, Movement disorders, Muscular dystrophy, Neonatal neurology Neurofibromatosis type 1 - NF1, Neurological assessments of infants and children, Neuromuscular disease, Peripheral nerve disorders, Seizures, Sports-related concussions, Stroke[pamf.org]
  • Nearly 50 percent of children with NF1 have speech problems, learning disabilities, seizures and hyperactivity. Less than one percent of those affected with NF1 may have malignant tumors and may require treatment.[genome.gov]
  • Seizures may occur, learning disabilities, speech problems or hyperactivity may be experienced.[aans.org]
  • […] glioma inactivated 1 gene ( LGI1 ); Autosomal dominant nocturnal frontal lobe epilepsy – ADFNLE : Cholinergic receptor, nicotinic, alpha 4 ( CHR- NA4 ) and Cholinergic receptor, nicotinic, beta 2 ( CHRNB2 ) genes; Epilepsy, generalized, with febrile seizures[isn.cnr.it]
Ataxia
  • MJD is now the most common autosomal domiant spinocerebellar ataxia world-wide.Dr. Rosenberg has published over 270 original scientific papers, chapters, reviews and editorials.[books.google.com]
  • ataxia type 2 (SCA2) : Ataxin 2 gene ( ATXN2 ); Spinocerebellar ataxia type 3 (SCA3) , Machado-Joseph Disease(MJD) : Ataxin 3 gene (ATXN3 ); Spinocerebellar ataxia type 6 (SCA6) : Calcium channel, voltage-dependent gene ( CACNA1 ); Spinocerebellar ataxia[isn.cnr.it]
  • […] de E hlers–Danlos-Syndrom Typen I–VII Familial e rythrocytosis F abry disease Familial adenomatous polyposis ( FAP ) and attenuated FAP (AFAP) F ibrodysplasia ossificans progressiva F ragile X mental retardation syndrome, fragile X-associated tremor/ataxia[gfhev.de]
  • […] clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy with ragged red fibers (MERFF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), neuropathy with ataxia[orphananesthesia.eu]
Papilledema
  • These include poor vision, proptosis, afferent pupillary defects, and optic nerve atrophy or papilledema.[healio.com]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Management and treatment Isolated CAL lesions do not require medical care. Prognosis CAL spots are benign and may resolve with age. Last updated: 4/30/2009[rarediseases.info.nih.gov]
  • Nestler's research is to better understand the molecular mechanisms of addiction and depression based on work in animal models, and to use this information to develop improved treatments of these disorders.[books.google.com]
  • Has limited or no treatment options Finally, some diseases are not currently curable and effective treatment options are lacking. e.g. Krabbe disease, Bloom syndrome, Pompe disease.[counsyl.com]
  • They may receive treatment at the clinic or take a management plan back to their own doctor. Treatment of Tumors Most tumors caused by neurofibromatosis do not need treatment.[orthoinfo.aaos.org]

Prognosis

  • Prognosis CAL spots are benign and may resolve with age. Last updated: 4/30/2009[rarediseases.info.nih.gov]
  • Prognosis CAL spots are benign and may resolve with age. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • However, any person with NF1 and high blood pressure must be evaluated carefully for 2 alternative causes of hypertension (see Prognosis). Pheochromocytomas are not rare ( 5%) in NF1 and can cause severe, fluctuating hypertension.[emedicine.medscape.com]
  • Although prognosis is very variable, overall life expectancy is approximately half that of non affected individuals. Tumors or cardiovascular complications are the most common causes of mortality 8. pediatric mediastinal masses[radiopaedia.org]

Etiology

  • Etiology The etiology of NF6 remains unknown. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Diagnostic methods The diagnosis is based on the presence of six or more CAL macules.[rarediseases.info.nih.gov]
  • Their size may vary from a few millimeters to more than 10 cm.EtiologyThe etiology of NF6 remains unknown.[malacards.org]
  • To identify the etiology of peripheral neuropathy in patients with NF2. To identify serum biomarkers of NF2 disease progression.[clinicaltrials.gov]
  • Keywords: Neurofibromatosis 1 ; diagnosis ; epidemiology ; etiology ; therapy ; Genes ; Neurofibromatosis 1 ; Signs and Symptoms;Disease Progression ; Café-au-lait spots Ključne reči: Neurofibromatoza tip 1 ; dijagnoza ; epidemiologija ; etiologija ;[degruyter.com]

Epidemiology

  • Epidemiology Prevalence is unknown, but the disease appears to be extremely rare. Clinical description The macules may appear in infancy, but usually they are detected after 2 years of age.[rarediseases.info.nih.gov]
  • Summary Epidemiology Prevalence is unknown, but the disease appears to be extremely rare. Clinical description The macules may appear in infancy, but usually they are detected after 2 years of age.[orpha.net]
  • METHODS: Second-phase population-based epidemiologic study using an allcase NF1 registry in a defined UK 4.1 million population area.[pediatrics.aappublications.org]
  • A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol 1995;75(2):136-40. PubMed Google Scholar 3. Wang Z, Liu Y.[degruyter.com]
  • Zoller M, Rembeck B, Akesson HO, Angervall L: Live expectancy, mortality and prognostic factors in neurofibromatosis type 1: A twelve-year follow-up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol (Stockh) 1995;75:136–140.[karger.com]
Sex distribution
Age distribution

Prevention

  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.com]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • Although bracing will not straighten scoliosis curves, it may slow the progress of the curves or prevent them from getting worse. Spinal fusion. To treat severe scoliosis caused by NF1, a doctor may recommend surgery.[orthoinfo.aaos.org]
  • However, symptoms will need regular monitoring to prevent complications from developing. Nf2 has a less positive outlook.[medicalnewstoday.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!