USEFULNESS OF SCREENING INVESTIGATIONS IN NEUROFIBROMATOSIS TYPE-1 - A STUDY OF 152 PATIENTS

Objective: To evaluate the usefulness of screening investigations in p atients with neurofibromatosis type 1 (NF1). Design: Clinical and scre ening data were retrospectively collected from a case series of patien ts with NF1. Screening investigations included an opthalmologic consul tation, chest x-ray film, abdominal ultrasonography, cerebral imaging, and analysis of urinary catecholamine levels. Clinical features and c omplications of patients with NF1 were compared with those of the Neur ofibromatoses Institute Clinical Research Program and of the Southeast Wales study patients. Setting: Ambulatory care in a referral center. Patients: Between 1988 and 1992, 152 patients classified as having NF1 according to the criteria of the National Institutes of Health Consen sus Development Conference Statement were studied. Main Outcome Measur e: Complications requiring therapeutic action detected using screening investigations vs clinical examination. Results: Systemic chest x-ray films were taken of 134 patients, and intrathoracic nodules thought t o be neurofibromas were discovered in 2 patients. Ninety-three asympto matic patients had cerebral imaging performed, which showed optic path way glioma in 12 patients. Abdominal ultrasonography was performed on 62 asymptomatic patients, results of which showed internal neurofibrom as in 4 patients. In 2 of these patients, abdominal surgery was perfor med. Eighty-three patients without hypertension had 24-hour urinary sp ecific catecholamine levels analyzed, which were within the normal ran ge. Clinical features and complications were not different from other large clinical studies. Nearly 400 systematic investigations were perf ormed without clinical orientation, detecting 21 abnormalities. In onl y 2 cases, these discoveries led to therapeutic action. On the other h and, 22 complications requiring treatment were detected by clinical ex amination. Conclusion: Clinical follow-up seems to be more beneficial than systematic investigations in patients with NF1.