Association of Graves' disease and Moyamoya syndrome in a Caucasian woman from Western Europe: vascular effects of anti-TSH receptor antibodies?

Summary: Moyamoya syndrome (MMS) refers to a rare cerebrovascular disorder characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches, leading to an increased risk of stroke. While prevalent in Asia, this condition is considerably less common in Western countries, including Europe. The association between MMS and Graves' disease (GD) has been well documented, primarily in Asian and American populations, notably Latin Americans. In this report, we report the first case of GD with MMS in a Caucasian woman from Western Europe. The precise mechanisms underpinning the correlation between these two conditions remain poorly elucidated but are hypothesized to involve hemodynamic alterations, the toxic effects of anti-thyroid-stimulating hormone receptor antibodies, or a shared genetic predisposition. Our clinical case underscores the significance of thyroid disease screening in suspected MMS cases, as the management of thyroid dysfunction may suffice to improve neurological symptoms. Learning points: The association between Graves' disease (GD) and Moyamoya syndrome (MMS) can manifest in a Caucasian European patient. Screening for thyroid disease is essential when MMS is suspected, as treating GD might effectively alleviate neurological symptoms. The mechanisms linking GD and MMS remain incompletely understood but may involve hemodynamic shifts, the toxic effect of anti-TSH receptor antibodies, or shared genetic factors.

PAI-BEL: a Belgian multicentre survey of primary adrenal insufficiency.

Objective: Primary adrenal insufficiency (PAI) is a rare disease with an increasing prevalence, which may be complicated by life-threatening adrenal crisis (AC). Good quality epidemiological data remain scarce. We performed a Belgian survey to describe the aetiology, clinical characteristics, treatment regimens, comorbidities and frequency of AC in PAI. Methods: A nationwide multicentre study involving 10 major university hospitals in Belgium collected data from adult patients with known PAI. Results: Two hundred patients were included in this survey. The median age at diagnosis was 38 years (IQR 25-48) with a higher female prevalence (F/M sex ratio = 1.53). The median disease duration was 13 years (IQR 7-25). Autoimmune disease was the most common aetiology (62.5%) followed by bilateral adrenalectomy (23.5%) and genetic variations (8.5%). The majority (96%) of patients were treated with hydrocortisone at a mean daily dose of 24.5 ± 7.0 mg, whereas 87.5% of patients also received fludrocortisone. About one-third of patients experienced one or more AC over the follow-up period, giving an incidence of 3.2 crises per 100 patient-years. There was no association between the incidence of AC and the maintenance dose of hydrocortisone. As high as 27.5% of patients were hypertensive, 17.5% had diabetes and 17.5% had a diagnosis of osteoporosis. Conclusion: This study provides the first information on the management of PAI in large clinical centres in Belgium, showing an increased frequency of postsurgical PAI, a nearly normal prevalence of several comorbidities and an overall good quality of care with a low incidence of adrenal crises, compared with data from other registries.

Recurrence of Graves' Disease (a Th1-type Cytokine Disease) Following SARS-CoV-2 mRNA Vaccine Administration: A Simple Coincidence?

Graves' disease is the most frequent cause of hyperthyroidism in young women. This auto-immune disease is due to the production of class 1 IgG stimulating the TSH receptor. These antibodies are produced secondary to a Th1 immune response in which interferon gamma plays a key role. Vaccination is ongoing worldwide against SARS-CoV-2 and some of the vaccines include mRNA which seems to stimulate the Th1 immune response. Here, we report a case of recurrence of hyperthyroidism due to Graves' disease following mRNA vaccination and discuss the possible implicated mechanism. This observation argues for a systematic study of a population of patients with previous Graves' disease in order to assess the risk of recurrence following vaccination. LEARNING POINTS: Graves' disease is a Th1-mediated immune disease in which interferon gamma plays a key role.The recurrence of hyperthyroidism due to Grave's disease should be monitored in patients exposed to risk factors.

Painful thyroid nodule, a misleading presentation of subacute thyroiditis.

Typical presentation of subacute thyroiditis (SAT) is an anterior neck pain radiating up to the jaw and ear, often associated with asthenia and fever. Biology shows hyperthyroidism and inflammation. The thyroid uptake is low at scintigraphy. However, the clinical presentation of SAT may be misleading. We report two cases of SAT whose initial manifestation was a painful thyroid nodule suspected of malignancy. In both cases, ultrasound feature was a heterogeneous, hypoechoic, ill-defined area with a low vascularization on colour Doppler. These areas were interpreted by radiologist as nodules. Surgery was then considered. Such a presentation should be known by clinicians to prevent unnecessary surgery.

Pheochromocytoma - when acute medicine comes to the surgeon's rescue and vice versa. Case report of a patient presenting unmanageable haemodynamic instability during elective surgery for pheochromocytoma.

We report and discuss the case of a 51-year-old patient undergoing elective laparoscopic surgery for pheochromocytoma after 10 days of medical pre-treatment. After anaesthetic induction, a deep level of anaesthesia could not prevent the onset of repeated hypertensive peaks, followed by severe hypotensive periods. Once the surgical incision was made, the patient developed acute pulmonary oedema along with significant oxygen desaturation. The decision was made to stop the surgery and transfer the patient to the intensive care unit (ICU) for further support and management. Unfortunately, additional monitoring and symptomatic treatment did not help haemodynamic stabilisation. In the absence of any external stimulation or medical support, the oscillation of blood pressure (BP) continued with peaks every 20 minutes up to 300 mmHg systolic blood pressure (SBP) and falls down to 30 mmHg SBP. The patient also sustained two episodes of cardiac arrest from which he recovered. Facing this unmanageable situation, a decision was made after a multi-disciplinary discussion to go back to surgery in order to remove the source of adrenergic stimulation. Surgery by laparotomy was performed and catecholamine substitution was provided. Nevertheless, after tumour removal, BP dropped leading to a third cardiac arrest that was successfully managed. Following a 10-day stay in the ICU, the patient left with subsequent cardiac stabilisation and full recovery.

Conservative management of pregnancy in patients with resistance to thyroid hormone associated with Hashimoto's thyroiditis.

BACKGROUND: Resistance to thyroid hormone (RTH) is a rare thyroid disorder characterized by elevated free thyroid hormones with non-suppressed thyrotropin (TSH). Guidelines for the management of pregnancy in patients with RTH are not well defined. Chorionic villus biopsy is sometimes proposed to manage treatment based on the genotype of the fetus. PATIENT FINDINGS: A woman with RTH (c1243C>T, pR320C mutation in the thyroid hormone receptor ß (THRB gene)) associated with Hashimoto's thyroiditis (HT) had three successful pregnancies. During the pregnancies, the mother was treated with levothyroxine (LT4). She never underwent chorionic villus sampling. The babies had normal birth weights. The first child harbored the THRB mutation. SUMMARY AND CONCLUSIONS: The management of pregnancies in patients with RTH and the indication for chorionic villus sampling are discussed in these cases. In RTH patients, pregnancies must be planned and closely followed. There is no need for prenatal diagnosis of RTH if the patient, due to limited thyroidal reserve, cannot produce excess of thyroid hormones to harm a normal fetus. The more common challenge in RTH remains how to best manage high maternal thyroid hormone levels, and whether or not to lower thyroid hormone levels based on the genotype of the fetus.