Journal of Clinical and Translational Endocrinology: Case Reports最新文献

Background/Objective

Sarcoidosis can cause severe hypercalcemia and is often a challenge to diagnose due to its variable clinical and radiographic presentations. Severe hypercalcemia is considered an emergency, where prompt treatment is necessary to minimize risk of end organ complications.

Case report

I present a case of a 65-year-old woman who presented with manifestations of severe hypercalcemia, including acute kidney injury and confusion, with a non-suppressed intact parathyroid hormone (PTH) level and a technetium 99 m sestamibi parathyroid scan with single photon emission computed tomography (SPECT) showing bilateral intrathyroidal tracer uptake concerning for multiple possible parathyroid adenomas. 1,25-dihydroxyvitamin D was elevated but conventional chest radiography was unremarkable. Subsequent evaluation involving chest computed tomography (CT) and endobronchial biopsy resulted in findings consistent with sarcoidosis. Prednisone 40 mg by mouth once daily was initiated, and 3 months after initial evaluation, the serum calcium and creatinine normalized, as did neurological function.

Discussion

Severe hypercalcemia should always be evaluated urgently with an exhaustive evaluation to avoid a delay in the diagnosis and/or treatment of potentially serious underlying medical conditions and to avoid performing potentially unnecessary interventions In these cases, a non-suppressed PTH level does not necessarily rule out PTH-independent causes, a “positive” parathyroid scan does not automatically rule in primary hyperparathyroidism, and negative conventional chest radiography does not rule out sarcoidosis.

Conclusion

Diagnostic algorithms for severe hypercalcemia can be utilized as a guide for the evaluation, but caution should be advised when they are taken as a rule. Understanding the limitations and pitfalls of diagnostic imaging and laboratory assays are essential, especially when they do not correlate with the clinical presentation.

Background/objective

Primary hyperparathyroidism is the most common cause of hypercalcemia. Hypercalcemia secondary to giant parathyroid adenomas and parathyroid carcinomas share substantial clinical similarities and their differentiation is challenging.

Case report

We present the case of a 72-year-old female with profound lethargy and confusion associated with polydipsia and polyuria, who was found to have an extremely elevated serum calcium level of 18.3 mg/dL (normal 8.4–10.5 mg/dL), ionized calcium 2.56 mmol/L (normal 1.20–1.32 mmol/L) and intact parathyroid hormone of 1838 pg/mL (normal 15–65 pg/mL). Ultrasound revealed a large hypoechoic nodule measuring 2.5 x 1.8 × 2.0 cm located in the right thyroid bed. Computed tomography revealed a hypoattenuating mass in the same region without obvious soft tissue invasion or lymphadenopathy. Technetium-99 m sestamibi with single-photon emission computed tomography identified intense focal radiotracer uptake at the same location most consistent with hyperfunctional parathyroid tissue. Patient underwent surgical exploration and resection of a parathyroid mass, which weighed 12.1 g and measured 4.6 x 2.5 × 1.8 cm. Pathology confirmed a diagnosis of benign parathyroid adenoma. Patient's laboratory values normalized and her mental status improved significantly, and she was discharged in stable condition.

Discussion

This is a rare case of a symptomatic patient with extreme primary hyperparathyroidism and hypercalcemia that was found to have a benign giant parathyroid adenoma, rather than carcinoma.

Conclusion

Differentiation between large hyperfunctioning parathyroid adenoma and parathyroid carcinoma is nontrivial due to shared characteristics of each. Therefore, the final diagnosis requires imaging and histopathological examination.

Background

The parapharyngeal space contains adipose tissue, lymphatics, cranial nerves, and blood vessels that can serve as a site of tumor metastasis, often via the retropharyngeal lymph nodes. Papillary thyroid carcinoma lymphatic spread is rare but aggressive in nature, and not well detailed.

Case report

We describe one patient with a 13-year past medical history of PTC treated with total thyroidectomy, neck dissection, and radiation who presented with PPS papillary adenocarcinoma. She presented with a 2-weeks of throat pain and dysphagia. She had not follow-up after PTC treatment due to limited care access. A PPS lesion was appreciated on CT, and the tumor demonstrated well-differentiated PTC in addition to high-grade carcinoma with squamous features. The lesion encased the carotid sheath structures and paravertebral fascia, making it inoperable. The patient's condition rapidly deteriorated she expired 74 days after the initial presentation.

Discussion

PTC is the most common thyroid carcinoma and usually spreads via lymphatic drainage. One possibility of metastasis could be via an anatomical variant in which the PPS and retropharyngeal spaces freely communicate. Our case supports the previously described route of metastasis via retrograde lymphatic drainage due to a cervical lymph node metastasis or neck dissection during the initial treatment of PTC 13 years prior.

Conclusion

Our case report highlights the aggression of papillary thyroid carcinoma metastasis to the PPS and emphasizes the need for consistent follow-up post-cancer treatment. Additional studies are required to determine if this metastasis occurred due to neck dissection or regional cervical lymph node involvement.

Background

Hypertriglyceridemia is a rare but potentially severe complication of pregnancy. It is seen in women with inherited lipid disorders, thyroid disease, nephrotic syndrome, diabetes and is associated with certain medication. Hypertriglyceridaemia can cause pancreatitis, pre-eclampsia and foetal compromise. Treatment is often challenging-many medications are not approved during pregnancy and much of the evidence comes from small case reports and case series. Here was present the case of a lady with type 2 diabetes and hypertriglyceridemia, outline our treatment plan and progress and review the literature.

Case presentation

We describe the case of a 37 year old pregnant lady with obesity and type 2 diabetes mellitus who developed severe hypertriglyceridemia in her third trimester. Baseline body mass index and triglyceride level entering pregnancy were 45.2 kg/m² and 2.2 mmol/L (0.4–2.0). At week 31 this lady required >1 unit/kg of insulin. A random lipid level done to investigate large foetal size identified a triglyceride level of 27 mmol/L. Treatment with a reduced fat diet, strict glycaemic control and omega 3 fatty acids was initiated and triglycerides reduced to <5mmol/L. A healthy infant weighting 3.3kg was delivered at 36 + 5. Post-partum lipids returned to baseline levels without treatment and insulin was discontinued after delivery.

Conclusion

Treatment of this rare condition is often complex and required multi-disciplinary input. In cases such as this dietic support and strict glycaemic control are the corner stones of treatment, however a number of oral and parenteral treatment options are available for those with severe complications.

Background/objective

Parathyroid carcinoma is a rare entity presenting as parathyroid hormone (PTH) dependent hypercalcemia. Our objective was to report a case of metastatic parathyroid carcinoma in a middle-aged woman, who presented with refractory hypercalcemia and the strategies we used to induce remission.

Case report

A 47 year old lady with a past history of a left superior parathyroid adenoma excision, presented with recurrent PTH dependent hypercalcemia. An ultrasonography of the neck and parathyroid scintigraphy were normal. Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) scan picked up metabolically active lesions in the lingular segment of the left lung and another lesion in the diaphragmatic pleura of the left hemi-thorax. Following metastectomy of the lung nodules, she developed symptomatic hypocalcemia with a reduction of serum PTH levels. The histopathology and immunoprofile were consistent with metastatic carcinoma. The PTH levels started rising 2 months after the surgery, with calcium levels remaining stable on cinacalcet, denosumab and cabozantinib.

Discussion

Parathyroid carcinoma is a rare endocrine malignancy with typically indolent, yet progressive course. There is no consensus on the treatment and follow-up of parathyroid carcinoma, owing to its rarity. The greatest likelihood of cure is achieved if complete resection of all malignant tissue is successful at the time of initial surgery. Surgical reduction of the tumor mass may also render the patient's hypercalcemia more amenable to medical treatment with hydration, potent intravenous bisphosphonates, denosumab and cinacalcet.

Conclusion

Surgical debulking of the metastatic lesions, followed by medical management of hypercalcemia offers promising results in the management of metastatic parathyroid carcinoma.

Radiofrequency ablation (RFA) is acknowledged as an effective and safe technique for the treatment of benign thyroid nodules. However, recently there have been some reports of thyroid dysfunction related to this technique, especially thyrotoxicosis. Here, we report a case of a 34-year-old woman's thyroid crisis instantly (about 20 minutes) after RFA and ethanol injection for an autonomous functional thyroid nodule. Fortunately, her symptoms improved with treatment (hydration, corticosteroid, propylthiouracil, and propranolol), and after three days, she was discharged from the hospital in good condition.

Introduction

This unique critical case, illustrates severe hyperglycemic dehydration, profound electrolyte derangements, and multiple organ failure complicating mixed HHS and DKA.

Statement

Historically HHS was differentiated from DKA as a distinct entity, mostly encountered in adult type 2 diabetes. Occasionally diabetic children present in HHS, carry their own risks and require different treatment approaches. In practice, challenging pediatric diabetic patients concomitantly displaying mixed HHS and DKA features can be encountered, mandating higher risk awareness, complications prevention, and corresponding treatment addressing both states.

We report 3 cases of patients with acromegaly in whom surgical treatment did not achieve permanent biochemical control and in whom adjuvant pharmacotherapy with injectable somatostatin receptor ligands (iSRLs) was required but was either refused, poorly tolerated, or resulted in breakthrough symptoms of acromegaly. Therefore, treatment was transitioned to twice-daily oral octreotide capsules (OOC), formulated to enable enhanced absorption of octreotide to therapeutic levels through tight intracellular junctions in the intestine.

Transition to OOC resulted in biochemical control of acromegaly and symptom improvement in all 3 cases. Additionally, the two patients transitioning from iSRLs reported increased treatment satisfaction with OOC compared with their previous therapy. OOC adverse effects were primarily gastrointestinal, including diarrhea, nausea, and bloating, and either subsided after several weeks of OOC treatment or were manageable with dietary changes.

These case reports indicate that OOC may be an effective and tolerable therapy for patients with acromegaly. Moreover, transitioning patients with acromegaly from iSRLs to OOC may increase adherence to adjuvant pharmacotherapy by eliminating painful injections and injection site reactions, decreasing breakthrough symptoms, improving treatment convenience, and increasing patient satisfaction with therapy.