Objectives: Neurofibromatosis type 1 (NF1) is an autosomal, dominant, genetic disorder. The genetic lesion in neurofibromatosis type 1 is located at locus 17q11.2 that harbors the neurofibromin gene. Patients have 3-4 times higher possibility to develop malignancies relative to the general population. The endocrine manifestations of neurofibromatosis include precocious puberty, short stature, osteoporosis and pheochromocytoma. We present a patient with neurofibromatosis type 1 and thyroid carcinoma.
Methods: A 46-years-old female patient unterwent total thyreoidectomy for multinodular goiter. Pathology report revealed a macrofollicular variant of follicular thyroid carcinoma, 4 cm in maximum diameter (T2N0M0). The patient reveived radioactive iodine (131I) therapy 70 mCi and L-thyroxine suppression therapy. From the medical history the patient reported a brain tumor surgery, at the left brain lobe, at the age of 4 years, which resulted in left facial nerve palsy. She also had delayed puberty.
Results: From the clinical examination the patient had typical signs of NF1 such as café au lait spots, subcutaneous neurofibromas, axillary freckles, as well as hamartomas of the iris (Lisch nodules) and low stature. In the family history there were no family members with NF-1 reported. The patient fulfilled the 4 out of 7 diagnostic criteria of NF-1. Brain MRI reported gliotic lesions in the hypoplastic left lobe and the cerebellum. The biopsy of a skin nodule revealed neurofibroma, whereas further diagnostic examinations for pheochromocytoma and osteoporosis were negative.
Conclusion: Clinical diagnosis requires the presence of at least 2 of the 7 criteria to confirm the presence of NF1. Many of these signs do not appear until later childhood or adolescence and the diagnosis often is delayed, despite suspicious features for NF1. Although rare, the coexistence of thyroid cancer is possible and should be evaluated
19 May 2018 - 22 May 2018