NEUROFIBROMATOSIS TYPE 1: A NEW MUTATION

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 690-701-Obesity Pathophysiology
Translational
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-691
Eva Lau*1, Paula Freitas1, Cristina Sousa2 and Davide Carvalho1
1Centro Hospitalar São João; Faculty of Medicine, Porto University, Portugal, 2Centro Hospitalar São João
Introduction: Neurofibromatosis type 1 is an autosomal dominant disorder, caused by mutations of neurofibromine 1 (NF1), on chromosome 17q11.2. It is characterized by neurofibromas, café au lait spots, lisch nodules, optic glioma, freckling of the groin and axilla and bone dysplasia. It increases the risk of benign and malignant neoplasms.

Case report: Male, 46-years-old, caucasian, referred to Endocrinology department by morbid obesity. Past medical history of type 2 diabetes mellitus, hypertension, dyslipidemia, obstructive sleep apnea syndrome, pulmonary emphysema and chronic venous insufficiency. In 2011,  it was diagnosed a squamous cell carcinoma of the tongue. He has family history of obesity (Mother and 2 brothers), with no other relevant family diseases. Physical examination revealed 10 neurofibromas in the dorsal region, 7 café au lait spots, the largest measuring 60mm of diameter, axillary freckles, cervical and axillar acanthosis nigricans and several lisch nodules across the iris of both eyes. Blood count, biochemistry and endocrinology study had no significant alterations. Genetic study revealed a mutation c.2088G> A on exon 18 of NF1.

Conclusion: The case intends to demonstrate the importance of physical examination to assess the global condition and perform a total evaluation of the patient. Physical examination has allowed the diagnosis of neurofibromatosis type 1 and the identification of a mutation that has not been previously described.

Nothing to Disclose: EL, PF, CS, DC

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm