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

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.

Background

To describe the clinical manifestations, treatment, and prognosis of a patient with type 1 diabetes (T1D) and concurrent diagnoses of painful treatment-induced neuropathy of diabetes (TIND) and restless leg syndrome (RLS).

Case report

A 36-year-old man with newly diagnosed T1D experienced the onset of painful lower extremity neuropathy symptoms after a hemoglobin A1C drop from 15% to 6.6% over 1 month upon initiation of insulin pump therapy. His pain was refractory to conventional diabetic neuropathy management, and TIND was diagnosed given the rapid A1C reduction. He was later found to have anemia and diagnosed with concurrent RLS, for which he was treated with carbidopa-levodopa and later pramipexole. Over the course of 18 months, his neuropathic symptoms resolved completely.

Discussion

TIND and RLS are both small fiber neuropathies with some shared clinical symptoms, including worsening symptoms at night. Sleep disturbance and the urge to move legs are more characteristic of RLS. Rapid A1C lowering, which may occur in patients with newly diagnosed T1D, may provoke TIND, while underlying iron-deficiency anemia is a risk factor for RLS. TIND may be poorly responsive to conventional diabetic neuropathy treatment and may take months to improve or resolve, while RLS is responsive to treatment with dopamine agonists.

Conclusion

TIND should be suspected in T1D patients who have rapid A1C lowering (more than 2% drop in 3 months). In patients with refractory symptoms who have underlying iron deficiency anemia, sleep disturbance, and the urge to move their legs, RLS should be considered in the differential.

Introduction

In humans, there is considerable individual variability in ethanol metabolism, and these differences have been partially attributed to genetic variability at the ADH locus at 4q22-23, where seven genes are found. They encode ADH enzymes with different kinetic and structural properties that represent the first step in a series of reactions involved in the metabolism and elimination of alcohol from the body. The objective of the study was to identify the potential genetic cause in a patient with congenital metabolic encephalopathy of unknown etiology, and having similarities to fetal alcohol syndrome.

Case

We described a patient of Moroccan origin who suffered from a multisystem disorder compatible with congenital metabolic encephalopathy. The main clinical characteristics observed in the patient were psychomotor retardation, facial dysmorphism, microcephaly, and hematologic and endocrine abnormalities. Whole exome sequencing identified a homozygous missense mutation c.133G > A (p.Gly45Arg) in ADH6, a gene implicated in alcohol metabolism and previously not associated with human disease. The variant segregates well with the disease in the family, affects a highly conserved amino acid and was predicted to be damaging. Bioinformatics analysis revealed that the Gly45Arg substitution may affect the structure and function of the ADH6 protein. No other potential causal gene under an autosomal recessive inheritance model was found.

Discussion

The patient presented with a congenital metabolic encephalopathy, and having similarities to fetal alcohol syndrome due to prenatal alcohol exposure. The only potential causing variant was identified in the ADH6, belonging to the Class V ADH which is a predominantly fetal alcohol dehydrogenase. In addition, he presented vacuolated lymphocytes, anemia and abnormalities of endocrine function, all have been reported to be related to an abnormal alcohol metabolism.

Conclusion

We identified a novel variant in ADH6, involved in the metabolism of alcohol, in a patient with a hereditary alcohol metabolism encephalopathy syndrome.