Neurofibromatosis type 1 (NF1) is a common inherited autosomal dominant disease. The most frequent manifestations are cutaneous and neurological. We report a case of
familial deforming neurofibromatosis type 1 in a mother and daughter causing slow cord compression. The mother had consulted the neurology department of the Centre
Hospitalier Universitaire Yalgado Ouédraogo (CHU-YO) for the first time in 2017, with progressively worsening weakness of all four limbs in a context of progressive spinal deformity. For 14-year-old schoolgirl, daughter of patient 1, she had been suffering from skin lesions for 5 years. She had been seen for recently worsening back pain (10 months ago), marked by the onset of spinal deformity and difficulty walking, with a notion of intermittent spinal claudication. This condition was associated with diffuse skin lesions that had previously prompted a dermatology consultation, and the symptomatology had progressed to motor deficit in all four limbs. Spinal cord magnetic resonance imaging was used to diagnose the nerve lesions. The severity of spinal lesions requires clinical monitoring for early detection of neurological symptoms, especially disabling spinal manifestations. Our case highlights the importance of establishing clinical surveillance in NF1 patients. MRI is the examination of choice for early detection of nerve lesions.
Neurofibromatosis type 1, spinal lesions, familial