Necessity for long-term follow-up of patients with head and neck paraganglioma and mutation in the succinate dehydrogenase genes: an index case report and literature review.

OBJECTIVE: To describe a patient with hereditary head and neck paraganglioma (HNPGL) and to review the literature on these rare tumors. METHODS: We review the English-language literature regarding SDH mutations, HNPGL, hereditary paraganglioma-pheochromocytoma syndrome, and the role of functional imaging in the follow-up of these tumors. We also describe the clinical findings, imaging results, and follow-up of a man who initially presented with HNPGL and subsequently developed metastatic pheochromocytoma 20 years later. RESULTS: A 66-year-old man presented with a history of hypertension, palpitations, sweating, and elevated urinary norepinephrine. Iodine-123-metaiodobenzylguanidine (123I-MIBG) scan demonstrated a left suprarenal mass and multiple avid lesions in the abdomen, chest, and posterior cranial fossa. Histologic examination confirmed a metastatic pheochromocytoma, and molecular genetic testing revealed a mutation in the SDHD gene. The patient had had surgery 20 years earlier for HNPGL. Although most HNPGLs arise sporadically, susceptibility genes have been identified in approximately one-third of cases. Optimal follow-up remains controversial. We reiterate a need for long-term follow-up of patients with a mutation in an SDH gene. 123I-MIBG, highly specific for identifying ectopic neuroendocrine tissue, may have a role in long-term follow-up. CONCLUSIONS: Although HNPGLs rarely metastasize, their malignant potential is difficult to predict. Routine surveillance for at-risk patients is recommended. Patients with a mutation in an SDH gene should therefore undergo regular surveillance.

Diurnal, week-to-week, and long-term variation in urine deoxypyridinoline cross-link excretion in healthy older women.

OBJECTIVES: To establish a reference range for morning and afternoon excretion of urinary deoxypyridinoline (DPD) in apparently healthy older women selected from a volunteer database. To assess the extent of diurnal variation and short and long-term within-subject longitudinal variation. DESIGN: Prospective, observational, cohort study. SETTING: Clinical Age Research Unit, King's College School of Medicine, London, United Kingdom. PARTICIPANTS: Forty-two women aged 68 to 89 (median age 75) selected from a volunteer database. METHODS: Subjects completed an osteoporosis risk factor questionnaire and a physical examination and had a measurement of the broadband ultrasound attenuation and speed of sound of their right heel. Subjects provided six urine samples: morning and afternoon at baseline and 1 week and 60 weeks later for measurement of DPD. RESULTS: The mean baseline values for DPD of morning and afternoon samples were 7.2 nM/mM and 6.0 nM/mM creatinine, respectively. The majority of subjects showed diurnal variation, with mean afternoon values 15% lower than morning values (P <.0001 for afternoon vs morning values). The mean difference in DPD after 60 weeks was 1.67 nM/mM for morning and 1.34 nM/mM for afternoon creatinine. This difference was not significant. Some individuals displayed marked changes in DPD excretion with no change in health status or treatment. DPD excretion in a nonfasting afternoon sample showed similar characteristics to morning void samples in terms of scatter, week-to-week variation, and long-term reproducibility. CONCLUSIONS: The study was set up to provide background data to assist the development of a clinical osteoporosis service for older women. Further studies are needed to determine whether these measurements predict fracture risk and respond to treatment changes in this age group.