Neurofibromatosis type 1 and multiple sclerosis: Genetically related diseases

Publication date: Available online 25 October 2016 Source:Egyptian Journal of Medical Human Genetics Author(s): Solaf M. Elsayed, Nagia Fahmy, Radwa Gamal, Mohamed Wafik, Dina Zamzam, Mai Fahmy, Mahmoud Suelam Neurofibromatosis type I (NF1) is an autosomal dominant disorder with involvement of both the cutaneous and nervous systems. Patients are susceptible to neurological complication in the form of tumors of the brain and spinal cord. Multiple sclerosis (MS) is a chronic autoimmune disease that affects the myelinated axons in the central nervous system. Unlike MS, none of the neurological complications of NF1 is demyelinating. The association of these two diseases in the same patient is rare and could be genetically related. Early detection of the presence of MS in patients with NF1 is of utmost importance as treatment will certainly decrease further neurological disability. Here we report the first Egyptian lady with this association.

Source: Egyptian Journal of Medical Human Genetics - October 25, 2016 Category: Genetics & Stem Cells Source Type: research