PMID: 2499182Jun 1, 1989Paper

The diagnosis of neurofibromatosis-1 in the child under the age of 6 years

American Journal of Diseases of Children
A C ObringerE H Zackai

Abstract

One-hundred sixty children under the age of 6 years presented for diagnostic evaluation regarding neurofibromatosis-1 (NF-1). Using the National Institutes of Health Consensus Conference criteria, 151 (94%) of the children were classified on initial examination: 112 were diagnosed as having NF-1 and 39 were found to be unaffected (all 39 have remained asymptomatic on follow-up). Nine could not be classified (3 have subsequently met minimal diagnostic criteria on follow-up). Clinical manifestations of NF-1 include cafe au lait spots (97%), freckling in the axillary or inguinal region (81%), Lisch nodules (30%), neurofibromas (15%), pseudoarthrosis (6%), and optic nerve gliomas (4%). More than minimal diagnostic criteria were met by 80% of the children who had a positive family history and by 32% of those who did not. Thus, the clinical diagnosis of NF-1 is possible in the child who is under 6 years of age, and the National Institutes of Health criteria are useful and applicable.

Citations

Jul 11, 1998·Archives of Disease in Childhood·M H CnossenM F Niermeijer
Jun 23, 2009·Journal of the American Academy of Dermatology·Kevin P BoydAmy Theos
Oct 4, 2011·Indian Journal of Dermatology·Radheshyam PurkaitSandipan Dhar
Sep 1, 1995·Medical and Pediatric Oncology·A JanssA T Yachnis
Mar 31, 2005·Pediatric Neurology·Beth Ann Ward, David H Gutmann
Aug 27, 2013·Journal of the American Academy of Dermatology·Myriam MarqueDidier Bessis
Oct 5, 2010·Pediatric Clinics of North America·Kara N Shah
May 24, 2016·Pediatric Neurology·Anne BernierSebastien Perreault
Sep 11, 2014·Orphanet Journal of Rare Diseases·Laurence Lion-FrançoisUNKNOWN Réseau NF1 Rhône Alpes Auvergne-France
Jun 1, 1995·Journal of the American Academy of Dermatology·A Zvulunov, N B Esterly
Mar 1, 1992·The Journal of Pediatrics·K J Hofman, C D Boehm
Feb 19, 2015·Pediatric Dermatology·Angela Hernández-MartínAntonio Torrelo
Dec 30, 2014·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·A Duat RodríguezJ Argente
Apr 4, 2015·Journal of Maxillofacial and Oral Surgery·K P ArunM S Abhinethra
May 15, 2007·Journal of Attention Disorders·François X CoudéArnold Munnich
Apr 28, 2017·Journal of Cutaneous Medicine and Surgery·Irene Lara-CorralesPeter Kannu
Feb 4, 2021·Cancers·Bengisu OzarslanVincenzo Piccolo
Mar 4, 2008·Pediatrics·Joseph H Hersh, UNKNOWN American Academy of Pediatrics Committee on Genetics

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.