Neurofibromatosis type 1 and multiple sclerosis: Genetically related diseases

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...

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Bibliographic Details
Published in:The Egyptian journal of medical human genetics 2017-07, Vol.18 (3), p.295-298
Main Authors: Elsayed, Solaf M., Fahmy, Nagia, Gamal, Radwa, Wafik, Mohamed, Zamzam, Dina, Fahmy, Mai, Suelam, Mahmoud
Format: Article
Language:English
Subjects:
Abdomen
Autoimmune
Axons
Brain tumors
Central nervous system
Demyelinating disease
Demyelination
Genetic disorders
Hereditary diseases
Multiple sclerosis
Myelin
Neurofibromatosis
Neurological complications
Neurological disorders
Patients
Pediatrics
Psychiatry
Recklinghausen's disease
Relapsing remitting
Spinal cord
Tumors
Urine
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Summary: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.
ISSN:1110-8630
2090-2441
DOI:10.1016/j.ejmhg.2016.10.001