Papillary thyroid carcinoma in struma ovarii: management after surgery.

A woman in her 40s presented with a 3-month history of lower abdominal pain and intermenstrual bleeding. Ultrasound of the pelvis disclosed a 4 cm left adnexal mass. An MRI of the pelvis revealed a 2.2×3.6×2.4 cm solid, enhancing left ovarian mass. Due to high suspicion for malignancy, she underwent laparoscopic left salpingo-oophorectomy and resection of the tumour. Histopathology revealed papillary thyroid carcinoma in the background of struma ovarii as confirmed by thyroglobulin and thyroid transcription factor-1 positivity on immunohistochemistry. BRAF mutation analysis was negative. An ultrasound of the thyroid gland showed two low-risk nodules. An iodine-123 whole-body scan showed normal uptake in the thyroid gland. Thyroid-stimulating hormone (TSH) was 1.070 mcIU/mL (0.450-4.500), and thyroglobulin was 6.8 ng/mL (1.5-38.5). We risk-stratified this patient as low risk for recurrence. Risk stratification of malignant struma ovarii is essential to determine suitable thyroid targeting adjuvant therapy and reduce the risk of recurrence.

Tumor-Induced Hypoglycemia: An Unusual Case Report and Review of Literature.

OBJECTIVE: To describe a rare case of pheochromocytoma presenting with hypoglycemia. METHODS: We describe a rare case of pheochromocytoma presenting with a hypoglycemic seizure. Our article includes our differentials, work up, and management. RESULTS: Our patient had non-islet-cell tumor hypoglycemia that was non-insulin mediated, as noted by low insulin levels. His hypoglycemia was likely multifactorial and mediated by different mechanisms. We describe the rare case and review the causes of tumor-induced hypoglycemia. CONCLUSION: Pheochromocytomas can rarely present with hypoglycemia and are associated with a poor prognosis.

Falsely Elevated 25-Hydroxy-Vitamin D Levels in Patients with Hypercalcemia.

Symptomatic hypercalcemia is a commonly encountered clinical scenario. Though it is important to collect detailed history to find clinical clues connecting to the etiology of hypercalcemia, the diagnostic workup of hypercalcemia depends heavily on laboratory analysis. Accurate measurement of the parathyroid hormone and vitamin D levels is essential. However, commercial laboratory measurement of vitamin D levels can be erroneous in the setting of abundant paraprotein in the serum. One of the most common conditions that can cause an increased amount of paraproteins is multiple myeloma. We report 2 cases of falsely elevated 25-hydroxy-vitamin D levels in patients presenting with hypercalcemia and an underlying diagnosis of MM.

Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high plasma cholestanol levels. OBJECTIVES: Our objective was to review the diagnosis and treatment results in 43 CTX cases. METHODS: We conducted a careful review of the diagnosis, laboratory values, treatment, and clinical course in 43 CTX cases. RESULTS: The mean age at diagnosis was 32 years; the average follow-up was 8 years. Cases had the following conditions: 53% chronic diarrhea, 74% cognitive impairment, 70% premature cataracts, 77% tendon xanthomas, 81% neurologic disease, and 7% premature cardiovascular disease. The mean serum cholesterol concentration was 190 mg/dL; the mean plasma cholestanol level was 32 mg/L (normal <5.0 mg/L), which decreased to 6.0 mg/L (-81%) with CDCA therapy generally given as 250 mg orally 3 times daily. Of those tested on treatment, 63% achieved cholestanol levels of <5.0 mg/L; 91% had normal liver enzyme levels; none had significant liver problems after dose adjustment. Treatment improved symptoms in 57% at follow-up, but 20% with advanced disease continued to deteriorate. In the United States, CDCA has been approved for gallstone dissolution, but not for CTX despite long-term efficacy and safety data. CONCLUSIONS: Health care providers seeing young patients with tendon xanthomas and relatively normal cholesterol levels, especially those with cataracts and learning problems, should consider the diagnosis of CTX so they can receive treatment. CDCA should receive regulatory approval to facilitate therapy for the prevention of the complications of the disease.