Neurofibromatosis - case presentation

Abstract

We are presenting the case of a 43 year old man, without significant pathological antecedents, who accused back pain with irradiation on the back of the thigh and the right calf, which were associated with paresthesia at the same level. Symptoms appeared a year ago, when the patient was on symptomatic treatments with minimal results. On the generally examination there are found fifteen café au lait spots, distributed on the torso and limbs with the diameter above 15 mm, axillary hyperpigmentation, ten cutaneous neurofibromas with the same distribution and Lisch nodules in the iris. We proceeded to MRI examination of the lumbar spine that reveals an important irregular thickening, tortue with pseudotumoral aspect, predominantly in the extraforaminal and peripheral path and less in the intraforaminal of nerve roots from T12 to the sacral roots; widening of the conjugation foramina; changes are more pronounced in the sacral plexus (left > right), the terminal segments presenting the appearance of „pelvic mass“ – MRI compatible with plexiform neurofibromas aspect. The final step was the histopathological examination which confirmed the diagnostic. The particularity of this case is that this patient was very late diagnosed, despite the fact that he had many pathognomonic elements of neurofibromatosis, and his symptomatology was rough, usually this disease is diagnosed in childhood or as an young adult.

Keywords

• café au lait
• lisch nodules
• neurofi bromas