Abstract Summary A 50-year-old man was found to have hypercalcemia during a routine medical examination and was referred to our hospital for primary hyperparathyroidism. Cervical ultrasonography (US) did not reveal any parathyroid lesions, but computed tomography (CT) revealed a mass containing a large amount of adipose tissue. The mass was located at the lower pole of the left thyroid lobe and extended into the upper mediastinum. A nodule measuring 10 mm with varying densities was confirmed within the mass. The lesion was nonspecific for a parathyroid tumor. Methoxyisobutylisonitrile (MIBI) scintigraphy revealed accumulation in the same area, which was considered to be a parathyroid lesion, and surgical resection was planned. The surgical approach was through a cervical incision. A mass lesion suspected to be a lipoma was identified at the left lower pole of the thyroid gland. The tumor was removed while preserving its capsule. A brown nodule measuring 10 mm was confirmed inside the removed tissue. Frozen section confirmed that the removed lesion was composed of parathyroid tissue, so the surgery was completed. Histopathological analysis revealed that most of the removed parathyroid gland was composed of adipose tissue. A final diagnosis was lipoadenoma of the parathyroid was made. Learning points
Abstract Summary Primary thyroid lymphomas are uncommon and mostly comprise diffuse large B-cell lymphomas, whereas chronic lymphocytic leukemia (CLL) presenting in the thyroid is extremely rare. We report a case of a previously healthy 46-year-old man who was referred for evaluation of incidental lymphocytosis. He had no B symptoms, lymphadenopathy, or splenomegaly. Flow cytometry was consistent with a diagnosis of B-cell CLL. The patient was classified as Rai stage 0 and followed up without treatment. Nine years later, he developed splenomegaly and an enlarged inguinal lymph node. A routine CT scan revealed a multinodular goiter, while thyroid function tests were normal. Ultrasound showed a well-defined, solid, hypoechoic right thyroid nodule (16 × 25 × 37 mm) with macrocalcifications, categorized as TI-RADS 4. Fine-needle aspiration cytology demonstrated small, monotonous lymphoid cells (Bethesda V), suspicious for CLL. This is a rare example of CLL presenting as a thyroid nodule long after diagnosis and without systemic progression. This case emphasizes the need to consider hematologic malignancy in the differential diagnosis of thyroid nodules, particularly in patients with known CLL. Learning points
SummaryA 37-year-old man with a long-standing history of daily cannabis use was evaluated for refractory hypertension and recurrent paroxysmal episodes of palpitations, diaphoresis, tremor, and anxiety. A consistent and striking clinical pattern had been observed over several years: symptoms reliably improved during active cannabis use and worsened within days of abstinence. This bidirectional relationship had guided prior evaluations towards anxiety disorder and cannabis withdrawal syndrome, and no biochemical endocrine workup had ever been performed. After a sustained period of abstinence precipitated more frequent and severe episodes, urinary fractionated metanephrines were measured and found to be markedly elevated: normetanephrine at 6,114 μg/24 h (reference range: ≤445; 13.7-fold) and total metanephrines at 11,662 μg/24 h (reference range: ≤757; 15.4-fold). Contrast-enhanced CT identified a 6.0 × 5.0 cm left adrenal mass with imaging characteristics consistent with phaeochromocytoma. Following preoperative alpha- and beta-adrenergic blockade, laparoscopic left adrenalectomy was performed without complications. Histopathology confirmed phaeochromocytoma with a PASS of 5. Symptoms resolved completely, and blood pressure normalised without antihypertensive therapy. We propose that chronic cannabis use may have partially attenuated the tumour’s catecholamine surges through a cannabinoid receptor type 1 (CB1)-mediated presynaptic mechanism, whereby delta-9-tetrahydrocannabinol (THC) reduces acetylcholine release from cholinergic nerve terminals innervating the adrenal medulla, thereby attenuating chromaffin cell stimulation and catecholamine secretion. This hypothesis could explain the observed bidirectional symptom pattern and represents a biologically plausible, previously undescribed confounding interaction with important diagnostic implications. At 2-week postoperative follow-up, the patient was asymptomatic and normotensive. At 3 months, he remained symptom-free without antihypertensive medication. Learning pointsChronic cannabis use may pharmacologically attenuate the clinical expression of phaeochromocytoma through a biologically plausible CB1 receptor-mediated presynaptic mechanism – whereby THC reduces acetylcholine release from cholinergic nerve terminals innervating the adrenal medulla, attenuating chromaffin cell stimulation and catecholamine secretion – potentially creating a presentation indistinguishable from anxiety disorder or cannabis withdrawal. This hypothesis is supported by the observed temporal pattern but requires further investigation to establish causality.The pattern of symptom improvement during active cannabis use and exacerbation during abstinence, particularly when combined with refractory hypertension, may prompt biochemical evaluation for catecholamine excess rather than reinforcing a substance-related or psychiatric diagnosis.Cannabis withdrawal is associated with a significant rise in circulating epinephrine; in patients with a catecholamine-secreting tumour, withdrawal of the proposed CB1-mediated inhibitory tone could precipitate severe hyperadrenergic crises that are clinically indistinguishable from withdrawal without biochemical testing.Measurement of plasma free or urinary fractionated metanephrines should not be deferred based on an apparently plausible psychiatric or substance-related explanation, particularly in patients with refractory hypertension and paroxysmal sympathomimetic symptoms.
SummaryWe report three Chinese children with central nervous system germ cell tumours (CNS GCTs) presenting as arginine vasopressin (AVP) deficiency with or without pituitary stalk thickening, initially diagnosed as lymphocytic hypophysitis (LyH) and idiopathic AVP deficiency. Case 1 showed conflicting biopsy results, suggesting hypophysitis and then germinoma. Case 2 had one negative transsphenoidal biopsy and later one biopsy finding LyH before suprasellar mass diagnosis. Case 3 had a normal initial MRI brain and was followed up as idiopathic AVP deficiency but found to have extensive tumour the next year. All patients achieved remission with chemotherapy and radiotherapy but sustained lifelong panhypopituitarism. Asia has a higher prevalence of CNS GCTs in children. Pituitary stalk thickening with risk factors including pituitary stalk thickness ≥6.5 mm, AVP deficiency, two or more pituitary hormone deficiencies at presentation, and evolving hypopituitarism mandates a high level of malignant suspicion even if prior histopathology is negative. In ethnic groups where the prevalence of CNS GCT is higher, biopsy should be offered when presented with risk factors. These cases highlight pitfalls of false-negative MRI and biopsy, emphasising epidemiology-informed diagnostic algorithms to prevent diagnostic delays. Learning pointsChildren with isolated AVP deficiency should have 3- to 6-monthly MRI brain surveillance.Central nervous system germ cell tumours (CNS GCTs) can closely mimic lymphocytic hypophysitis due to a pronounced lymphocytic inflammatory reaction, representing a major diagnostic pitfall.Taking into account that CNS GCTs are more common in the Asian paediatric population, malignancies should remain the leading differential diagnosis in thickened pituitary stalk until definitively ruled out.Prior negative biopsies should not preclude repeat sampling with clinical progression.Special risk factors and novel investigations should be taken into consideration in ambiguous findings.
SummaryGraves’ disease is common, with an estimated prevalence of 0.2–2% and multiple associated complications. We present a case of severe mitral regurgitation secondary to poorly controlled Graves’ disease for 11 years, highlighting the need for definitive treatment. A 30-year-old female attended hospital with palpitations, agitation and generalised pain. Her past medical history included Graves’ disease diagnosed in 2014, with poor compliance and engagement with secondary care and medical treatment. Biochemical investigations and clinical examination confirmed thyrotoxicosis (TSH < 0.05 mIU/L, free T3 > 30.72 pmol/L and free T4 34.7 pmol/L). Carbimazole 40 mg once daily and propranolol 40 mg three times daily were restarted. She later developed worsening dyspnoea, attributed to decompensated heart failure. An echocardiogram showed severe mitral regurgitation secondary to anterior mitral valve prolapse. She also displayed psychiatric abnormalities, including anxiety and anger outbursts. Multiple conversations were thus needed with the patient, her family and the multidisciplinary team regarding treatment options, and an inpatient thyroidectomy was agreed upon. She recovered well postoperatively and is awaiting mitral valve repair. Our case highlights two crucial complications occurring secondary to long-standing uncontrolled Graves’ thyrotoxicosis: mitral valve regurgitation with heart failure and neuropsychiatric complications with an impact on capacity for treatment decisions. We emphasise the complex support needed for these vulnerable patients to prevent end-stage complications of Graves’ disease. Learning pointsGraves’ thyrotoxicosis can lead to multiple complications, including cardiovascular and psychiatric conditions.Multiple management options exist for Graves’ thyrotoxicosis: medical management with thionamides, radioactive iodine or thyroidectomy.For complex cases, a multidisciplinary team-based approach is essential.Young patients with Graves’ disease who are lost to follow-up in secondary care need to be highlighted as vulnerable. More community resources are necessary to be dedicated to these patients to avoid critical complications.
