SEGMENTAL NEUROFIBROMATOSIS WITH SKIN AND SPLANCHNIC INVOLVEMENT

Background. Segmental neurofibromatosis (NF V) is ten times less frequ ent than Recklinghausen disease. Would the risk of visceral involvemen t in this uncommon form of neurofibromatosis warrant systematic imagin g procedures ? Case report. A 31-year-old man consulted for a volumino us plexiform neurofibroma in the left lumbar area. More ventrally, on the left side, there was also a cafe au lait spot. There were no Lisch nodules. The chest and abdominopelvic computed tomography and magneti c resonance imaging showed intramuscular tumoral extension, two neurof ibromas in the 9th intercostal space and a voluminous 5-cm tumor situa ted in the left adrenal area. After resection pathology examination of the surgical specimen confirmed the diagnosis of ganglioneuroma. Disc ussion. In this patient, ail the neurofibromas and the cafe of lair sp ot developed in the territories of the left T10 and adjacent spinal ro ots. This was also true for the ganglioneuroma which developed on the deep sympathetic ramus to the adrenal gland which originates essential ly from roots T8 to T11. This would place this case in the second subg roup of NF V in Roth's classification. Only six other cases have been reported in the literature. Such deep localizations are very likely to be underestimated, raising the problem of their detection acid the co rrect protocol to follow asymptomatic forms, especially to detect dise ase progression to malignant degeneration which has a poor prognosis. Patients with a NF V should receive genetic counselling with a search for a family history, other signs of neurofibromatosis and Lisch nodul es. In young patients, the risk of deep asymptomatic spread underlines the importance of regional computed tomographic or magnetic resonance explorations.