✦ LIBER ✦

Neurofibromatosis type 1 I. General overview

✍ Scribed by Maha M. Lakkis; Gihan I. Tennekoon

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 76 KB
Volume: 62
Category: Article
ISSN: 0360-4012
DOI: 10.1002/1097-4547(20001215)62:6<755::aid-jnr1>3.0.co;2-w

No coin nor oath required. For personal study only.

✦ Synopsis

Neurofibromatosis type 1 (NF1), or von Recklinghausen disease is a genetic disease characterized by a variety of multiple clinical symptoms affecting primarily cells of neural crest origin, and is therefore classified as neurocristopathy. The most clinically significant feature of the disease is the neurofibroma, hence the name neurofibromatosis.

CLINICAL FEATURES AND DIAGNOSTIC

CRITERIA OF NF1 DISEASE The clinical manifestations of NF1 include predominantly tissues derived from the neural crest, but, also many other tissues (Riccardi and Eichner, 1992). The extreme variability in the extent and severity of NF1 clinical symptoms has caused confusion in its clinical diagnosis. That led the NIH to issue a "Consensus Statement" to define standard diagnostic criteria for NF1 that distinguish it from other related diseases (NIH Consensus Statement, Arch Neurol 1988;45:575). Patients are diagnosed with NF1 if they meet two or more of the following criteria:

📜 SIMILAR VOLUMES

Neurofibromatosis Type 1

✍ North, Kathryn 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 171 KB 👁 1 views

Neurofibromatosis 1 (NF1) is an autosomal dominant neurocutaneous disorder with an incidence of approximately 1 in 4000. Cognitive deficits and academic learning difficulties are the most common neurological 'complication' of NF1 in childhood and can be responsible for significant lifetime morbidity

Neurofibromatosis type 1 growth charts

✍ Clementi, M.; Milani, S.; Mammi, I.; Boni, S.; Monciotti, C.; Tenconi, R. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB 👁 1 views

Growth abnormalities such as macrocephaly and short stature have been described and are considered a consistent finding in neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders in man. We present here a clinical study on the growth profile of a sample of NF1 patients co

Epidemiology of neurofibromatosis type 1

✍ Friedman, J.M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 1 views

The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known ethnic groups in which NF1 does not occur or is unusually common. The prevalence is somewhat higher in young children than in adults, a difference that probably results at least in part from the early death of some

Neurofibromatosis type 1 and pregnancy

✍ Dugoff, Lorraine; Sujansky, Eva 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 445 KB

Neurofibromatosis '&pe 1 (NF-1) is an autosomal dominant condition which has markedly variable clinical expression, with manifestations ranging from mild cutaneous lesions to severe orthopedic complications and functional impairment. The current obstetrical literature indicates that women with NF-1

Intracranial gliomas in neurofibromatosi

Intracranial gliomas in neurofibromatosis type 1

✍ Listernick, Robert; Charrow, Joel; Gutmann, David H. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 1 views

Optic pathway gliomas and brainstem gliomas are the predominant intracranial neoplasms associated with neurofibromatosis type 1 (NF1). Before the past 15 years, studies of optic pathway gliomas in NF1 were hampered by the inaccurate diagnosis of NF1, the unavailability of noninvasive neuroimaging te

Behavioral phenotype of neurofibromatosi

Behavioral phenotype of neurofibromatosis, type 1

✍ Kayl, Anne E. ;Moore, Bartlett D. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 152 KB 👁 1 views