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

A rare complication of thyrotoxicosis among Asians is Thyrotoxic Periodic Paralysis (TPP), with an incidence of approximately 2% in patients with thyrotoxicosis from any cause. TPP is characterized by sudden onset of hypokalemia and muscle paralysis. Hypokalemia in TPP results from an intracellular shift of potassium induced by the thyroid hormone sensitization of Na⁺/K⁺–ATPase rather than depletion of total body potassium. Treatment of TPP includes correcting the underlying hyperthyroid state, prevention of potassium shift by using non-selective beta-blockade, and replacing potassium. TPP is curable once a euthyroid state is achieved. We describe here a rare case of TPP in a young Chinese man who presented with sudden bilateral lower limb weakness.

Diabetes insipidus (DI) is a rare clinical condition in the postoperative period. Post-surgery polyuria is a common finding, as the body excretes the excessive fluid given during surgery. It is important to diagnose and differentiate the DI from post-operative polyuria, as DI can lead to severe dehydration and electrolyte disturbances. We report two unusual cases of perioperative DI requiring desmopressin therapy.

Case 1

A 46-year-old healthy male patient developed intraoperative DI leading to hypernatremia during the anterior cervical discectomy and fusion. Anesthesia was maintained with propofol and remifentanil target-controlled infusion (TCI). After two hours of surgery, the patient became polyuric and was passing diluted urine. He received desmopressin and hydration. The patient recovered and was transferred to the ward, then, discharged home without any clinical or neurological problems.

Case 2

A 36-year-old healthy male patient underwent elective 3rd ventricular cyst excision. Pre-anesthesia assessment did not reveal any comorbidities and the surgery was uneventful. His anesthesia was maintained with propofol and remifentanil TCI (target-controlled infusion). In the postoperative period, he developed DI requiring hydration and desmopressin. The patient's further recovery was uneventful. He was discharged home through the ward.

Conclusion

The occurrence of DI in the above-mentioned surgeries is very rare. Both surgical procedures and anesthesia medications can cause perioperative DI.

Introduction

Although Graves' disease (GD) is the most common cause of hyperthyroidism in adolescents, it is very rare for it to result from the production of thyroid-stimulating hormone (TSH) receptor autoantibodies due to Graves' immune reconstitution inflammatory syndrome (IRIS). Especially for paediatric patients, very little is known about the aetiology and complete pathogenesis of Graves’ IRIS. Furthermore, details of a valid treatment plan are severely lacking. The case report presented here is only the third for paediatric patients worldwide.

Case presentation

We report on a Caucasian female adolescent who initially presented with non-specific complaints about discomfort and tightness in the anterior part of the neck and thyroid enlargement. Based on clinical, laboratory and thyroid ultrasound findings, she was diagnosed with GD. However, after several months of outpatient treatment, the patient's GD could still not be fully managed with conservative therapy alone. Only when the patient was hospitalized for the third time was it discovered that she had previously been diagnosed with human immunodeficiency virus infection and had received highly active antiretroviral therapy (HAART) for the previous 29 months. Consequently, the production of autoantibodies to TSH receptors and abnormal changes in thyroid hormones had led to the development of GD and her final diagnosis was established as Graves' IRIS. Ultimately, a total thyroidectomy was performed.

Discussion/conclusion

This case report demonstrates how fundamentally important it is to have full access to a patient's complete anamnesis and results of all previous investigations. Clinicians should be made aware of the potential existence of thyroid dysfunction and other autoimmune or infectious processes in paediatric patients initiating or reinitiating HAART. Further research is needed to optimize the treatment for such paediatric patients.

Background

Hypothyroidism is a well-known side effect associated with tyrosine kinase inhibitors (TKIs) therapy. We describe a case of a patient with a history of postsurgical hypothyroidism who presented TSH elevation ranging from 1.68 to 17.09 IU/ml with normal free thyroxine (T4) after starting treatment with alectinib for non-small cell lung cancer (NSCLC).

Case presentation

A 78-year-old female, with past medical history of Graves’ disease with subsequent total thyroidectomy and residual postsurgical hypothyroidism, was diagnosed with non-small cell lung cancer (NSCLC) and presented with TSH elevation with normal free T4 after starting therapy with alectinib.

Conclusion

The most likely etiology for TSH elevation during her therapy with alectinib is an increased requirement of thyroid hormone secondary to increase activity of type 3 deiodinase and/or inhibition of monocarboxylate transporter 8 (MCT8) with consequent lower tissue availability of active T3. Further studies of thyroid dysfunction after alectinib administration are lacking.

Doege-Potter syndrome (DPS) is a rare paraneoplastic entity associated with solitary fibrous tumors which are mesenchymal spindle cell neoplasms. DPS is characterized by non-insulin mediated severe hypoglycemia due to release of the prohormone big Insulin like growth factor (IGF)- 2. Here, we present the case of a 59-year-old gentleman who was evaluated for frequent episodes of hypoglycemia. Further work up revealed low insulin, IGF-1 and IGF-2 levels and a large left intrathoracic solitary fibrous tumor. After resection of the mass, his hypoglycemic episodes completely resolved.

Objective

Central venous migration of polymethylmethacrylate (PMMA) is a rare but potentially serious complication of percutaneous injection of PMMA performed to treat symptomatic vertebral fractures.

Most emboli cases to the heart result in cardiac perforation but the management of asymptomatic cases is unknown. Here we describe a rare case of a patient with asymptomatic intracardiac PMMA involving the right atrium and right ventricle, managed with observation over 6 years.

Methods

A 69 year old female treated with PMMA for osteoporosis related vertebral fracture, who developed sudden onset of transient dyspnea in the immediate postprocedure period. She was noted to have a PMMA material in the right atrium and ventricle on imaging. We will review the literature on management cardiac emboli.

Results

Our case is one of the first case report of asymptomatic cardiac emboli managed with observation and without anticoagulation.

Conclusion

This case discusses the rare occurrence of asymptomatic PMMA material found in the cardiac chambers, followed for 6 years. It also highlights that dyspnea in the perioperative period should be investigated further.

Background

Skeletal fluorosis is a metabolic bone disease that results from the chronic ingestion of fluoride. Although there are national programs in place to raise awareness and curtail this disease condition, skeletal fluorosis continues to cause crippling deformities in areas where it continues to be endemic.

Method

ology: An observational study was undertaken at a university-affiliated teaching hospital in southern India. Clinical, biochemical features and densitometric variables including bone mineral density (BMD) and trabecular bone score (TBS) were assessed.

Results

All patients (n = 9) hailed from fluorosis-endemic Indian states and the source of drinking water was from a bore-well in all cases. The mean (±SD) age and BMI were 45.6(±11.0) years and 25.6 (±8.4) kg/m² respectively. Dental mottling was present in five subjects. Five subjects each had vitamin D deficiency with osteomalacia. The mean (±SD) urine fluoride was 2.9(±1.4) ppm. The bone mineral density showed a sclerotic pattern, with the mean (±SD) TBS being 1.607 (±0.160). All patients were initiated on calcium and cholecalciferol supplements and those with osteomalacia were treated with calcitriol.

Conclusion

While fluorosis continues to be a challenge in endemic regions, the presence of osteomalacia proves to be a treatable component of the disease condition. There seems to be an unmet need for more aggressive defluoridation techniques and the provision of safe drinking water in susceptible individuals.

Unbalanced diabetes can lead to many complications related to insulin deficiency. Hepatocytic glycogenic overload, formerly known as Mauriac syndrome, is one of them. It is a rare syndrome initially described in children with type 1 diabetes (T1D) who have a history of high blood glucose followed by high doses of insulin. It is exceptionally described among adults. We report two cases of Mauriac syndrome diagnosed in two DT1 patients, the first admitted for abdominal distension with a subictus and the second admitted for abdominal distension with a failure to thrive. The clinical examination objectified a distended abdomen with hepatomegaly in both patients, subictus in the 1st and a very noticeable growth failure in the 2nd patient. Biological tests showed hyperglycemia, hepatic cytolysis in the first patient with a negative etiological work-up. The diagnosis of hepatic glycogenosis was retained in both patients on a bundle of anamnestic and clinical arguments, and this in the absence of other abnormalities responsible for liver disturbances in the 1st patient. The diagnosis of certainty is histological, and treatment is based on diabetes control.

Objective

To report diagnostic and management challenges of the case of a 91-year-old male patient with Paget's disease (PD) and secondary hyperparathyroidism due to renal disease treated with Denosumab (D-mab), which ultimately resulted in life-threatening hypocalcemia.

Background/objective

A thyroid storm can manifest in many ways during gestation causing harm to the mother and to the baby and risking the outcome of the pregnancy.

Case report

A previously healthy female at 10 weeks gestational age presented to the hospital with complaints of nausea, vomiting and inability to tolerate diet. Patient was found to be in thyrotoxicosis. Propylthiouracil (PTU) could have been the first drug of choice since she was in her first trimester, however, could not be given due to her elevated hepatic function tests. Plasmapheresis was our only option to control her symptoms without risking her pregnancy. After a couple of sessions of plasmapheresis, the patient's thyroid and hepatic function tests resolved and she was put on PTU until her second trimester, when she was switched to methimazole.

Discussion

Current guidelines recommend the use of PTU in the first trimester of pregnancy due to the teratogenicity of methimazole, and consideration to switch to methimazole afterwards. However, when thionamides are contraindicated like in cases of elevated hepatic function tests, limited treatment options remain, especially in pregnancy. Data has shown that plasmapheresis can be performed relatively harmlessly in pregnant patients with severe thyrotoxicosis.

Conclusion

In rare situations where thionamides are contraindicated or ineffective, plasmapheresis is considered an effective treatment to reduce thyroid hormone levels but should be followed by definitive management.