Neurofibromatosis Type 1: A Case Study

Diagnosis of Neurofibromatosis type 1 is based mainly on clinical findings which meet the diagnostic criteria for Neurofibromatosis 1 which was developed by the National Institutes of Health. Since Neurofibromatosis 1 is caused by heterozygous pathogenic modifications in NF1, molecular testing is rarely needed for diagnosis, and is only useful for certain individuals. The diagnostic criteria for Neurofibromatosis 1 is: 1 they must have six or more café-au-lait macules which are, for prepubescent individuals over 5mm in diameter, and over 15 mm in diameter in postpubescent individuals. 2 They must have two or more of any type of neurofibromas or one plexiform neurofibroma. 3 Freckling in the axillary or inguinal regions; 4 an Optic glioma; 5 two or more …show more content…
Individuals who meet two or more of the above criteria are confirmed as having neurofibromatosis type 1. While the NIH diagnostic criteria is both highly specific and sensitive in adults with Neurofibromatosis 1, only about half of all children with Neurofibromatosis 1 who no known family history of the disorder meet the NIH diagnostic criteria by the time they are one year old, although nearly all of them meet the criteria by the time they are eight years old, and all of the criteria are met by the time they are 20 years old (Friedman 2014, Boyd et al. 2009). Due to the fact that many of the features of Neurofibromatosis 1 increase in frequency the older an individual gets, it is difficult to diagnose very young children as having Neurofibromatosis 1 if they do not have parents or siblings who have Neurofibromatosis 1, however it is possible to identify NF1 in children within the first year of life if a parent has the disease as multiple café-au-lait spots are often develop in infancy which allows the children the criteria for a positive diagnosis of