Neurofibromatosis Type 1 (NF1): Case Report and Review of literature

Abstract

Neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration of the skin. We present a case of 11-year-old boy with NF-1. The disease started in childhood with the appearance of multiple hyper pigmented skin macules. The boy presents excruciating lower back pain and lumbar scoliosis. The diagnosis NF-1 was made according to the presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference. NF1 is a multisystem disorder requiring management by multiple disciplines, often coordinated through a primary care physician or a geneticist and dermatologist.

Establishing the diagnosis neurofibromatosis type 1: A rare case

“…The diagnosis NF-1 was made according to the presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference (Table 1). [1][2][3][4][5][6][7] In this case, we found 4 point indicates as neurofibromatosis. The café-au-lait macule with more than 0,5 cm in diameter is one of the seven cardinal diagnostic criteria of NF1 was found in this case more than six.…”

“…2 NF1 is diagnosed through clinical assessment including a thorough history and physical examination using National Institute of Health Consensus Development Conference criteria. 2,3 The seven diagnostic features recognized at this conference, and the recommendation that two or more of these seven features be present before a diagnosis of NF-1 is stablished. 4 Neurofibromatosis type 1 manifest as not only cutaneous but also affect nearly every organ system.…”

A Child Presented with Clitoromegaly in Context with Neurofibromatosis Type 1

“…After reviewing this case, we recommend that the management of a clitoral neurofibroma consists of surgical excision with all attempts to preserve the clitoris and its adjacent neurovascular structures without compromising future sexual function [1,[8][9][10][11].…”

Anesthetic Considerations in a Patient With Plexiform Neurofibromatosis: A Case Report

“…Neurofibromatosis is an autosomal dominant disease affecting all organs. The diagnosis was made according to the presence of two or more of the following criteria: A) 6 or more café-au-lait macules (>0.5 cm in children and >1.5 cm in adults) B) 2 or more cutaneous or subcutaneous neurofibromas or one plexiform neurofibroma C) Axillary or inguinal freckling D) Optic glioma E) 2 or more lisch nodules (iris hamartomas visualized on slit lamp examination) F) Sphenoid wing dysplasia or bowing of long bone (with or without pseudoarthrosis) G) First degree relative with an NF1 diagnosis 2 Neurofibromas are the characteristic lesions which can occur anywhere including oropharynx and larynx resulting in difficulty in laryngoscopy. 5 Painless dislocation of cervical vertebrae has been reported in a patient with multiple cervical neurofibromas therefore preop radiological exam has been suggested to avoid spinal cord damage during laryngoscopy.…”

“…1 Neurofibromatosis type 1 (NF1), or Von Recklinghausen`s disease is a rare genetic disorder which presents with multiple benign tumors of nerve and skin (neurofibromas) and areas of abnormal coloration of the skin (café-au-lait spots). 2 NF1 gene has been localized on chromosome 17 and represents 95% of neurofibromatosis cases with the incidence rate of 1 in 3500 newborns and prevalence of 1 in 4500. 3 Plexiform neurofibromas represent an uncommon variant (30%) of NF1 in which neurofibromas arise from multiple nerves as deforming masses involving connective tissue and skin, therefore, clinical description of the bag of warms used.…”