Neurofibromatosis type 1 history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
Neurofibromatosis type 1 manifestations vary widely among patients , from individuals with absent symptoms to rapidly progessive disorders. The most common complication of neurofibromatosis type 1 is disfigurement due to skin lesions Prognosis will depend on the number of commorbidities, but it is usually moderately good. Life expectancy is usually reduced by 8-12 years, beign malignant tumors the most common cause of death.
History and Symptoms
History
- Manifestations vary widely among patients with neurofibromatosis type 1, from individuals with absent symptoms to rapidly progessive disorders.[1]
- Characteristics of neurofibromatosis type 1 appear at different ages,[1][2][3][4] among them:
- Bone manifestations appear from birth.[1]
- Plexiform neurofibromas appear usually around 1 year of age.[1]
- Cafe au lait spots appear in the first 5 years of life.[1]
- Optic gliomas develope in the first 6 years of life.[1]
- Scoliosis develops between age 6 and 10.[1]
- Malignant peripheral nerve sheath tumors usually usually appear around adolescence or adulthood.[1]
- People with neurofibromatosis type 1 tend to grow below average in height and above average in head circumference.[5][6][7][1]
- Precocious puberty and delayed puberty is more common in individuals with neurofibromatosis type 1 than the general population.[8][9][10][1]
Complications
- Common complications of neurofibromatosis type 1 include:
- Depression and social anxiety[11]
- Chronic pain, numbness, and/or paralysis due to the peripheral nerve sheath tumors[11]
- Blindness due to optic nerve gliomas[11]
- Amputation due to a tibial pseudarthrosis[11]
- Disfigurement due to skin lesions[11]
- Brain tumors[11]
- Wandering problems due to scoliosis and/or kyphosis[11]
- Malignant degeneration of neurofibromas into malignant periphreal nerve sheath tumor (this occurs in 10-12% of the cases)[11]
Common Symptoms
Common symptoms of neurofibromatosis type 1 include:
Less Common Symptoms
Less common symptoms of neurofibromatosis type 1 include
- Attention difficulties and hyperactivity[12]
- Vision problems[13]
- Pain due to neurofibromas[12]
- Bradykinesia[12]
- Dysphagia[13]
- Dyspnea[13]
- Loss of bladder or bowel control[13]
- Abdominal pain[13]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Friedman JM. PMID 20301288. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ DeBella K, Szudek J, Friedman JM (March 2000). "Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children". Pediatrics. 105 (3 Pt 1): 608–14. doi:10.1542/peds.105.3.608. PMID 10699117.
- ↑ Boulanger JM, Larbrisseau A (May 2005). "Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience". Can J Neurol Sci. 32 (2): 225–31. doi:10.1017/s0317167100004017. PMID 16018159.
- ↑ Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL (January 2009). "Neurofibromatosis type 1 revisited". Pediatrics. 123 (1): 124–33. doi:10.1542/peds.2007-3204. PMID 19117870.
- ↑ Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R (December 1999). "Neurofibromatosis type 1 growth charts". Am. J. Med. Genet. 87 (4): 317–23. doi:10.1002/(sici)1096-8628(19991203)87:4<317::aid-ajmg7>3.0.co;2-x. PMID 10588837.
- ↑ Szudek J, Birch P, Friedman JM (May 2000). "Growth charts for young children with neurofibromatosis 1 (NF1)". Am. J. Med. Genet. 92 (3): 224–8. PMID 10817659.
- ↑ Karvonen M, Saari A, Hannila ML, Lönnqvist T, Dunkel L, Sankilampi U (2013). "Elevated head circumference-to-height ratio is an early and frequent feature in children with neurofibromatosis type 1". Horm Res Paediatr. 79 (2): 97–102. doi:10.1159/000347119. PMID 23466600.
- ↑ Virdis R, Sigorini M, Laiolo A, Lorenzetti E, Street ME, Villani AR, Donadio A, Pisani F, Terzi C, Garavelli L (July 2000). "Neurofibromatosis type 1 and precocious puberty". J. Pediatr. Endocrinol. Metab. 13 Suppl 1: 841–4. doi:10.1515/jpem.2000.13.s1.841. PMID 10969931.
- ↑ Kocova M, Kochova E, Sukarova-Angelovska E (December 2015). "Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature". BMC Endocr Disord. 15: 82. doi:10.1186/s12902-015-0076-4. PMC 4678666. PMID 26666878.
- ↑ Virdis R, Street ME, Bandello MA, Tripodi C, Donadio A, Villani AR, Cagozzi L, Garavelli L, Bernasconi S (March 2003). "Growth and pubertal disorders in neurofibromatosis type 1". J. Pediatr. Endocrinol. Metab. 16 Suppl 2: 289–92. PMID 12729406.
- ↑ 11.0 11.1 11.2 11.3 11.4 11.5 11.6 11.7 Cimino PJ, Gutmann DH (2018). "Neurofibromatosis type 1". Handb Clin Neurol. 148: 799–811. doi:10.1016/B978-0-444-64076-5.00051-X. PMID 29478615.
- ↑ 12.0 12.1 12.2 12.3 12.4 12.5 12.6 "Neurofibromatosis - Síntomas y causas - Mayo Clinic".
- ↑ 13.0 13.1 13.2 13.3 13.4 "Neurofibromatosis type 1 - Symptoms - NHS".