AACE Clinical Case Reports最新文献

Background/Objective

Neonatal diabetes is a monogenic type of diabetes mellitus. It arises at the first 6 months of age and can be classified as permanent or transient. There are limited cases of neonates with DKA who have heterozygous mutations in INS and PKHD1 genes, especially in Saudi Arabia. We present a case of neonatal diabetes with diabetic ketoacidosis (DKA) born to consanguineous parents in Saudi Arabia. This study aims to highlight the importance of the genetic mutations associated with neonatal diabetes and identify the clinical manifestation features of neonatal diabetes.

Case Report

A six-month-old boy born to consanguineous parents with a family history of neonatal diabetes was diagnosed with DKA. The case was presented to the emergency department (ED) with vomiting and increased urination for 3 days. The child showed signs of severe dehydration and severe metabolic acidosis with a high anion gap and elevated hemoglobin A1C level (16.3%) was reported. According to the genetic test, the patient had an INS and PKHD1gene mutation. The treatment was initiated according to the DKA protocol, and then he received subcutaneous insulin.

Discussion

Neonatal diabetes is a condition caused by several gene mutations. In this case, heterozygous mutations in INS and PKHD1 genes were reported. The type of gene mutation could predict neonatal diabetes type, whether permanent or transient, and its response to treatment.

Conclusion

Genetic testing for neonates soon after birth is suggested for the early detection and classification of neonatal diabetes, especially among children with a family history of neonatal diabetes.

Background/Objective

Occult papillary thyroid carcinoma (PTC) is PTC with metastasis but without identification of primary thyroid cancer on preoperative ultrasonography. Published reports on occult PTC in children are limited.

Case Report

We describe a 16-year-old female with occult PTC who initially presented with a painless left sided cystic neck mass. Diffuse sclerosing variant papillary thyroid cancer was found in the resected neck mass and thyroid ultrasound did not show any nodules or features of carcinoma. After total thyroidectomy, pathological examination of the thyroid revealed papillary thyroid microcarcinoma.

Discussion

We describe a rare case of occult diffuse sclerosing variant papillary thyroid cancer presenting as a cystic neck mass mimicking a second branchial cleft cyst in an adolescent patient. When metastatic PTC is found without evidence of nodule on thyroid imaging, occult PTC of the thyroid is the likely diagnosis.

Conclusion

Total thyroidectomy ± neck dissection followed by TSH suppression and radioactive iodine therapy remains the appropriate diagnostic and therapeutic interventions.

Background/Objective

To report a case of adenomyosis in a woman with hyperprolactinemia which resolved after initiation of dopamine agonist therapy.

Case Report

A 35-year-old woman with a history of Graves’ disease was referred for evaluation of hyperthyroidism in March 2020. She was started on methimazole and thyroid function normalized. The patient also had a history of a pituitary microadenoma and was previously treated with cabergoline which was stopped after 12 months as she became pregnant.

In July 2020, the patient began to have polymenorrhea. Hyperprolactinemia was thought to be an unlikely cause as it most often causes hypogonadotropic hypogonadism with amenorrhea. A pelvic ultrasound demonstrated a bulky uterus with adenomyosis. Gynecology recommended treating adenomyosis by lowering her prolactin levels. She was started on cabergoline 0.25 mg weekly in October 2021. Within 2 months of initiation of cabergoline, she had resolution of symptoms and radiological resolution of adenomyosis.

Discussion

Prolactin has been implicated in the pathogenesis of adenomyosis, endometriosis and leiomyomas suggesting that a decrease in prolactin levels may suppress these lesions. The pathogenesis of adenomyosis has been related to direct prolactin effects in the promotion of gland/cell proliferation and function.

Conclusion

We conclude that prolonged elevation in prolactin may result in the development of adenomyosis and subsequent prolonged abnormal uterine bleeding. Dopamine agonists, like cabergoline, inhibit the synthesis and secretion of prolactin from the pituitary gland and may have a role in the management of adenomyosis in patients with hyperprolactinemia.

Objective

Imaging studies in the setting of primary hyperparathyroidism are performed to rule out an ectopic parathyroid adenoma. Although rare, false-positive scans can cause confusion and possibly more extensive procedures.

Method

A 68-year-old woman with parathyroid hormone–dependent hypercalcemia was found to have uptake in the left midclavicular area on the parathyroid scan with sestamibi. Retention of the isotope was considered a possibility, and the sestamibi scan was repeated after injecting the isotope in the right hand and this did not show uptake in the left midclavicular area.

Results

Sestamibi is taken up by the mitochondrial-rich adenoma cells and can help identify an ectopic location of the adenoma. Sestamibi scans are commonly performed before neck exploration to rule out an ectopic adenoma and to localize the parathyroid adenoma. Thyroid adenoma and thyroid cancer can also cause retention of isotopes. Retention of the isotope in the vein can also give an illusion of an ectopic parathyroid adenoma. Injecting the isotope in the contralateral hand can overcome this retention issue.

Conclusion

Uptake on parathyroid scan outside of normal embryologic decent of the parathyroid gland should raise the possibility of a false-positive uptake.

Background/Objective

Pituitary abscess is an uncommon life-threatening disease that could lead to panhypopituitarism. It is important to suspect its prevalence in regions with endemic infectious diseases.

Case Report

A 55-year-old man, a farmer, with a background of consumption of unpasteurized dairy products, presented with headache, impaired consciousness, and fever that started in February 2023. Initial test results were consistent with neuroinfection. Brain MRI showed ventriculitis; the pituitary gland was heterogeneous with the presence of an 8 × 8 mm abscess. The pituitary hormone axis was evaluated, and it showed results compatible with the results of panhypopituitarism with central hypothyroidism, central hypocortisolism, central hypogonadism, and growth hormone deficiency. Hormone replacement treatment with hydrocortisone and levothyroxine was started. The Rose Bengal test for Brucella spp. and 2-mercaptoethanol Brucella agglutination test showed positive results. After neurobrucellosis (NB) was diagnosed, antibiotic treatment was commenced. The patient was discharged 6 weeks later and treatment with prednisone, levothyroxine, recombinant somatropin, testosterone, as well as doxycycline, and rifampin was continued for another 4 months.

Discussion

NB and pituitary abscess are rare manifestations of brucellosis and are challenging to diagnose due to their nonspecific clinical presentation and cerebrospinal fluid (CSF) findings. NB diagnosis relies on neurologic symptoms and serological evidence of Brucella infection. Magnetic resonance imaging is the preferred diagnostic tool for pituitary abscesses. Medical management may be sufficient, while transsphenoidal drainage is not always necessary. Hormonal deficits typically remain permanent.

Conclusion

Pituitary abscess could be suspected in patients presenting with symptoms of neuroinfection, panhypopituitarism, and heterogenous image in the magnetic resonance imaging differential diagnosis. Opportune management can lead to reduced mortality and improved recovery of the pituitary hormone function.

Background/Objective

Paragangliomas are rare neuroendocrine tumors that primarily arise in the adrenal gland. Head and neck paragangliomas comprise approximately 3% of all extra-adrenal paragangliomas, with a majority of those being found in the carotid body. Recurrent laryngeal nerve paragangliomas are exceedingly rare, with only 2 reported cases found in literature review. Here, we will present the third.

Case Report

The patient is a 46-year-old woman with a history of a right thyroid nodule that had been previously biopsied benign with “paucity of diagnostic material.” Neck ultrasonography revealed a 7.4 cm nodule that demonstrated interval growth over a 2-year period, so it was recommended to proceed with right thyroid lobectomy and isthmusectomy. During resection, the recurrent laryngeal nerve appeared to “disappear” into the nodule, and it was resected along with the nodule to ensure proper margins. The nerve was reconstructed with an ansa cervicalis interposition graft, and the nodule was sent to pathology. Pathology revealed that the nodule was a 4.8 cm paraganglioma of the recurrent laryngeal nerve.

Discussion

Paragangliomas of the head and neck are exceedingly rare. In patients who present with symptoms of dysphagia or dysphonia, further workup, including laryngoscopy and magnetic resonance imaging, could potentially identify and allow for appropriate planning for surgical resection.

Conclusion

In rare cases, consideration of paraganglioma as part of the differential for thyroid nodules may assist with planning of surgery but will unlikely alter treatment.

Background/Objective

Osteogenesis imperfecta (OI) is a genetic disorder that affects type 1 collagen synthesis causing increased bone fragility, low bone mass, and skeletal deformity. Bisphosphonates are recommended for treatment of OI patients; however, the efficacy of sclerostin inhibitors such as romosozumab has not been determined in OI patients with osteoporosis.

Case Report

A 52-year-old G2P2 clinically diagnosed with OI, with a history of multiple fractures beginning in childhood presented with low bone mass. On physical examination, blue sclera was observed. She was previously treated with alendronate therapy from April 2014 to June 2015 without significant improvement in bone mineral density (BMD). After the onset of menopause, she began romosozumab 210 mg subcutaneous therapy once a month for 12 months. Repeat dual-energy X-ray absorptiometry showed an increase of 10.3% in BMD of the spine and a 5.4% increase in BMD of the right hip. The trabecular bone score increased by 5.2%.

Discussion

Current literature is limited regarding the use of sclerostin inhibitors in OI patients. Our patient’s improvement in BMD of the spine and right hip after romosozumab therapy was significant at a 95% confidence level, compared to treatment initiation. Her trabecular bone score also improved significantly. Six months into our patient’s treatment course, a case in Japan of a male with severe osteoporotic OI and recurrent fractures showed improvement in BMD after romosozumab therapy.

Conclusion

This case highlights our patient’s significant response to romosozumab and warrants further investigation of romosozumab as a potential treatment option for OI patients with osteoporosis.

Background/Objective

Our objective is to highlight the importance of identifying symptoms of steroid-responsive encephalopathy with associated thyroiditis (SREAT), especially in the setting of intermittent cognitive dysfunction, and to inform that SREAT can develop even in patients with a history of partial thyroidectomies.

Case Report

We present a case of a 51-year-old woman with a long-standing history of hypothyroidism presenting with acute onset myoclonus, involuntary tremors, fatigue, malaise, and palpitations for two weeks, with intermittent lapses in cognitive function. The patient’s workup is completely within normal limits, including her cognition, except for elevated thyroid stimulating hormone levels and markedly elevated levels of antithyroid peroxidase antibodies, despite the fact that she previously had a partial thyroidectomy.

Discussion

SREAT is an autoimmune condition characterized by cognitive dysfunction, elevated thyroid autoantibodies, and therapeutic response to corticosteroids. SREAT is primarily considered a diagnosis of exclusion. A crucial feature is the hallmark of significant improvement in symptoms when glucocorticoids are administered. There is a significant correlation between patients with elevated antithyroid peroxidase antibodies and new-onset SREAT. Although total thyroidectomy has been reported as a definitive treatment of SREAT, response to corticosteroids is the “sine qua non” in diagnosing this condition.

Conclusion

Hashimoto's thyroiditis can lead to a rare complication called SREAT, presenting with various neurologic symptoms. Prompt glucocorticoid treatment is vital, and a positive response confirms the diagnosis. Total thyroidectomy may be necessary for definitive SREAT treatment. More research is needed for alternate treatments and an understanding of the pathophysiology of SREAT.