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Open access

Yoko Olmedilla, Shoaib Khan, Victoria Young, Robin Joseph, Simon Cudlip, Olaf Ansgorge, Ashley Grossman and Aparna Pal

Summary

A 21 year-old woman was found to have a pituitary macroadenoma following an episode of haemophilus meningitis. Biochemical TSH and GH excess was noted, although with no clear clinical correlates. She was treated with a somatostatin analogue (SSA), which restored the euthyroid state and controlled GH hypersecretion, but she re-presented with a further episode of cerebrospinal fluid (CSF) leak and recurrent meningitis. Histology following transsphenoidal adenomectomy revealed a Pit-1 lineage plurihormonal adenoma expressing GH, TSH and PRL. Such plurihormonal pituitary tumours are uncommon and even more unusual to present with spontaneous bacterial meningitis. The second episode of CSF leak and meningitis appears to have been due to SSA therapy-induced tumour shrinkage, which is not a well-described phenomenon in the literature for this type of tumour.

Learning points:

  • Pit-1 lineage GH/TSH/PRL-expressing plurihormonal pituitary adenomas are uncommon. Moreover, this case is unique as the patient first presented with bacterial meningitis.

  • Inmunohistochemical plurihormonality of pituitary adenomas does not necessarily correlate with biochemical and clinical features of hormonal hypersecretion.

  • Given that plurihormonal Pit-1 lineage adenomas may behave more aggressively than classical pituitary adenomas, accurate pathological characterization of these tumours has an increasing prognostic relevance.

  • Although unusual, a CSF leak and meningitis may be precipitated by SSA therapy of a pituitary macroadenoma via tumour shrinkage.

Open access

Carlos Tavares Bello, Patricia Cipriano, Vanessa Henriques, João Sequeira Duarte and Conceição Canas Marques

Summary

Granular cell tumours (GCT) are rare, slow-growing, benign neoplasms that are usually located in the head and neck. They are more frequent in the female gender and typically have an asymptomatic clinical course, being diagnosed only at autopsy. Symptomatic GCT of the neurohypophysis are exceedingly rare, being less than 70 cases described so far. The authors report on a case of a 28-year-old male that presented to the Endocrinology clinic with clinical and biochemical evidence of hypogonadism. He also reported minor headaches without any major visual symptoms. Further laboratory tests confirmed hypopituitarism (hypogonadotrophic hypogonadism, central hypothyroidism and hypocortisolism) and central nervous system imaging revealed a pituitary macroadenoma. The patient underwent transcranial pituitary adenoma resection and the pathology report described a GCT of the neurohypophysis with low mitotic index. The reported case is noteworthy for the rarity of the clinicopathological entity.

Learning points:

  • Symptomatic GCTs are rare CNS tumours whose cell of origin is not well defined that usually give rise to visual symptoms, headache and endocrine dysfunction.

  • Imaging is quite unspecific and diagnosis is difficult to establish preoperatively.

  • Surgical excision is challenging due to lesion’s high vascularity and propensity to adhere to adjacent structures.

  • The reported case is noteworthy for the rarity of the clinicopathological entity.

Open access

Athanasios Fountas, Shu Teng Chai, John Ayuk, Neil Gittoes, Swarupsinh Chavda and Niki Karavitaki

Summary

Co-existence of craniopharyngioma and acromegaly has been very rarely reported. A 65-year-old man presented with visual deterioration, fatigue and frontal headaches. Magnetic resonance imaging revealed a suprasellar heterogeneous, mainly cystic, 1.9 × 2 × 1.9 cm mass compressing the optic chiasm and expanding to the third ventricle; the findings were consistent with a craniopharyngioma. Pituitary hormone profile showed hypogonadotropic hypogonadism, mildly elevated prolactin, increased insulin-like growth factor 1 (IGF-1) and normal thyroid function and cortisol reserve. The patient had transsphenoidal surgery and pathology of the specimen was diagnostic of adamantinomatous craniopharyngioma. Post-operatively, he had diabetes insipidus, hypogonadotropic hypogonadism and adrenocorticotropic hormone and thyroid-stimulating hormone deficiency. Despite the hypopituitarism, his IGF-1 levels remained elevated and subsequent oral glucose tolerance test did not show complete growth hormone (GH) suppression. Further review of the pre-operative imaging revealed a 12 × 4 mm pituitary adenoma close to the right carotid artery and no signs of pituitary hyperplasia. At that time, he was also diagnosed with squamous cell carcinoma of the left upper lung lobe finally managed with radical radiotherapy. Treatment with long-acting somatostatin analogue was initiated leading to biochemical control of the acromegaly. Latest imaging has shown no evidence of craniopharyngioma regrowth and stable adenoma. This is a unique case report of co-existence of craniopharyngioma, acromegaly and squamous lung cell carcinoma that highlights diagnostic and management challenges. Potential effects of the GH hypersecretion on the co-existent tumours of this patient are also briefly discussed.

Learning points:

  • Although an extremely rare clinical scenario, craniopharyngioma and acromegaly can co-exist; aetiopathogenic link between these two conditions is unlikely.

  • Meticulous review of unexpected biochemical findings is vital for correct diagnosis of dual pituitary pathology.

  • The potential adverse impact of GH excess due to acromegaly in a patient with craniopharyngioma (and other neoplasm) mandates adequate biochemical control of the GH hypersecretion.

Open access

Alicia R Jones, Alan McNeil, Christopher Yates, Bala Krishnamurthy and Peter S Hamblin

Summary

A variety of neoplastic, inflammatory and congenital conditions can cause pituitary stalk thickening. Differentiating between these causes is important as targeted treatment may be offered. Diagnostic work-up consists of a thorough history, examination, biochemical analysis and imaging. We present the case of a 33-year-old male who presented with diabetes insipidus and had pituitary stalk thickening on magnetic resonance imaging. Further investigations revealed an elevated CSF βhCG, which raised the possibility of an intracranial germ cell tumor. However, when repeated on four different assays, the βhCG levels were discordant. On serial imaging, the pituitary stalk thickening reduced slightly, which would be unexpected for a germ cell tumor. This case raises the difficulties interpreting CSF βhCG, as not all immunoassays for βhCG have been validated for use in CSF. The Roche Diagnostics Elecsys and Siemens Centaur assays have been validated for CSF βhCG, and so we advocate using one of these methods. If unavailable or serum/CSF results are ambiguous, serial MRI is appropriate, with pituitary stalk biopsy considered if the stalk measures >6.5 mm or other imaging abnormalities are present.

Learning points:

  • Most adult patients with central diabetes insipidus have imaging abnormalities on a pituitary MRI. The most common abnormalities are loss of the posterior pituitary bright spot and pituitary stalk thickening, both of which are non-specific.

  • Causes of pituitary stalk thickening include neoplastic, inflammatory, infective and congenital lesions.

  • Investigation of pituitary stalk thickening should encompass the many possible causes and include biochemical analyses as well as imaging of the chest, abdomen and pelvis. Further investigations should be guided by the clinical context, but may include testicular ultrasound, CSF analysis and pituitary stalk biopsy.

  • Germ cell tumors involving the pituitary stalk may be suspected on clinical grounds, but in the absence of a tissue diagnosis (biopsy) confirmation may be difficult and relies on biochemical assessment of blood and possibly CSF as well as serial MRI imaging.

  • CSF βhCG levels should be analyzed on an instrument validated for use in CSF or on multiple instruments, and the pitfalls of testing this marker (false negative in some germ cell tumors, false positives in other conditions, lack of internationally agreed reference ranges for diagnosing germ cell tumors) should be considered when interpreting the results.

Open access

Carlos Tavares Bello, Emma van der Poest Clement and Richard Feelders

Summary

Cushing’s syndrome is a rare disease that results from prolonged exposure to supraphysiological levels of glucocorticoids. Severe and rapidly progressive cases are often, but not exclusively, attributable to ectopic ACTH secretion. Extreme hypercortisolism usually has florid metabolic consequences and is associated with an increased infectious and thrombotic risk. The authors report on a case of a 51-year-old male that presented with severe Cushing’s syndrome secondary to an ACTH-secreting pituitary macroadenoma, whose diagnostic workup was affected by concurrent subclinical multifocal pulmonary infectious nodules. The case is noteworthy for the atypically severe presentation of Cushing’s disease, and it should remind the clinician of the possible infectious and thrombotic complications associated with Cushing’s syndrome.

Learning points:

  • Severe Cushing’s syndrome is not always caused by ectopic ACTH secretion.

  • Hypercortisolism is a state of immunosuppression, being associated with an increased risk for opportunistic infections.

  • Infectious pulmonary infiltrates may lead to imaging diagnostic dilemmas when investigating a suspected ectopic ACTH secretion.

  • Cushing’s syndrome carries an increased thromboembolic risk that may even persist after successful surgical management.

  • Antibiotic and venous thromboembolism prophylaxis should be considered in every patient with severe Cushing’s syndrome.

Open access

Regina Streuli, Ina Krull, Michael Brändle, Walter Kolb, Günter Stalla, Marily Theodoropoulou, Annette Enzler-Tschudy and Stefan Bilz

Summary

Ectopic ACTH/CRH co-secreting tumors are a very rare cause of Cushing’s syndrome and only a few cases have been reported in the literature. Differentiating between Cushing’s disease and ectopic Cushing’s syndrome may be particularly difficult if predominant ectopic CRH secretion leads to pituitary corticotroph hyperplasia that may mimic Cushing’s disease during dynamic testing with both dexamethasone and CRH as well as bilateral inferior petrosal sinus sampling (BIPSS). We present the case of a 24-year-old man diagnosed with ACTH-dependent Cushing’s syndrome caused by an ACTH/CRH co-secreting midgut NET. Both high-dose dexamethasone testing and BIPSS suggested Cushing’s disease. However, the clinical presentation with a rather rapid onset of cushingoid features, hyperpigmentation and hypokalemia led to the consideration of ectopic ACTH/CRH-secretion and prompted a further workup. Computed tomography (CT) of the abdomen revealed a cecal mass which was identified as a predominantly CRH-secreting neuroendocrine tumor. To the best of our knowledge, this is the first reported case of an ACTH/CRH co-secreting tumor of the cecum presenting with biochemical features suggestive of Cushing’s disease.

Learning points:

  • The discrimination between a Cushing’s disease and ectopic Cushing’s syndrome is challenging and has many caveats.

  • Ectopic ACTH/CRH co-secreting tumors are very rare.

  • Dynamic tests as well as BIPSS may be compatible with Cushing’s disease in ectopic CRH-secretion.

  • High levels of CRH may induce hyperplasia of the corticotroph cells in the pituitary. This could be the cause of a preserved pituitary response to dexamethasone and CRH.

  • Clinical features of ACTH-dependent hypercortisolism with rapid development of Cushing’s syndrome, hyperpigmentation, high circulating levels of cortisol with associated hypokalemia, peripheral edema and proximal myopathy should be a warning flag of ectopic Cushing’s syndrome and lead to further investigations.

Open access

Carlos Tavares Bello, Francisco Sousa Santos, João Sequeira Duarte and Carlos Vasconcelos

Summary

Central diabetes insipidus (DI) is a rare clinical entity characterized by low circulating levels of antidiuretic hormone (ADH) presenting with polyuria and volume depletion. Pituitary surgery is the most common cause of central DI in adults. Pituitary and hypothalamic disease, particularly invasive neoplasms, rarely cause DI, being idiopathic cases responsible for the majority of non-surgical cases. HIV patients, especially those with poor virulogical control, are prone to the development of CNS neoplasms, particularly lymphomas. These neoplasms usually become manifest with mass effects and seizures. Central DI and hypopituitarism are uncommon initial manifestations of primary CNS lymphomas. The authors describe the case of 29-year-old female, HIV-positive patient whose CNS lymphoma presented with DI.

Learning points:

  • Central diabetes insipidus has multiple causes and central nervous system lymphomas are not often considered in the differential diagnosis due to their low prevalence.

  • Accurate biochemical diagnosis should always be followed by etiological investigation.

  • The HIV population is at risk for many neoplasms, especially CNS lymphomas.

  • New-onset polyuria in an HIV-positive patient in the absence of focal neurological signs should raise the suspicion for a central nervous system process of neoplastic nature.

  • This clinical entity usually constitutes a therapeutical challenge, often requiring a multidisciplinary approach for optimal outcome.

Open access

A León-Suárez, P Roldán-Sarmiento, M A Gómez-Sámano, A Nava-De la Vega, V M Enríquez-Estrada, F J Gómez-Pérez and D Cuevas-Ramos

Summary

Non-Hodgkin lymphoma (NHL) is a hematological tumor caused by abnormal lymphoid proliferation. NHL can arise in any part of the body, including central nervous system (CNS). However, pituitary involvement is a quite rare presentation. The diffuse large B-cell lymphoma (DLBCL) is the most common subtype when pituitary is infiltrated. Here, we report a case of pituitary infiltration of NHL DLBCL type in a woman with hypopituitarism and an infundibulum-hypophysitis-like image on magnetic resonance imaging (MRI). A female aged 64 years, complained of dyspepsia, fatigue, weight loss and urine volume increment with thirst. Endoscopy and gastric biopsy confirmed diffuse large B-cell lymphoma. Treatment with chemotherapy using R-CHOP was initiated. During her hospitalization, hypotension and polyuria were confirmed. Hormonal evaluation was compatible with central diabetes insipidus and hypopituitarism. Simple T1 sequence of MRI showed thickening of the infundibular stalk with homogeneous enhancement. After lumbar puncture analysis, CNS infiltration was confirmed showing positive atypical lymphocytes. Pituitary and infundibular stalk size normalized after R-CHOP chemotherapy treatment. In conclusion, pituitary infiltration of NHL with infundibular-hypophysitis-like image on MRI is a rare finding. Clinical picture included hypopituitarism and central diabetes insipidus. Diagnosis should be suspected after biochemical analysis and MRI results. Treatment consists of chemotherapy against NHL and hormonal replacement for pituitary dysfunction.

Learning points:

  • Pituitary infiltration by lymphoma can present with signs and symptoms of panhypopituitarism and diabetes insipidus.

  • MRI findings can resemble an autoimmune hypophysitis.

  • Patients can recover pituitary function as well as normalization of MRI after chemotherapy treatment.

Open access

Niki Margari, Jonathan Pollock and Nemanja Stojanovic

Summary

Prolactinomas constitute the largest subsection of all secretory pituitary adenomas. Most are microprolactinomas and are satisfactorily treated by medical management alone. Giant prolactinomas, measuring more than 4 cm in diameter, are rare and usually occur more commonly in men. Macroprolatinomas tend to present with symptoms of mass effect rather than those of hyperprolactinaemia. Dopamine agonists (DA) are the treatment of choice for all prolactinomas. Surgery is usually reserved for DA resistance or if vision is threatened by the mass effects of the tumour. We describe the case of a 52 year-old woman with a giant invasive prolactinoma who required multiple surgical procedures as well as medical management with DA. One of the surgical interventions required a posterior approach via the trans cranial sub occipital transtentorial approach, a surgical technique that has not been previously described in the medical literature for this indication. The giant prolactinoma was reduced significantly with the above approach and patient symptoms from the compressing effects of the tumour were resolved. This case highlights the importance of a multidisciplinary approach to the management of such patients who present with florid neurological sequelae secondary to pressure effects. Although this presentation is uncommon, surgery via a sub occipital transtentorial approach may be considered the treatment of choice in suitable patients with giant invasive prolactinomas compressing the brainstem.

Learning points

  • Giant prolactinomas present with symptoms of mass effect or those of hyperprolactinaemia.

  • Interpretation of the pituitary profile is crucial to guide further investigations and management.

  • Treatment of giant invasive prolactinomas may involve a combination of medical management and multiple surgical interventions.

  • Treatment with DA may cause pituitary haemorrhage or infarction in patients with these tumours.

  • A sub occipital transtetorial approach may be considered the treatment of choice in invasive prolactinomas compressing the brainstem.

  • Multidisciplinary approach of such patients is fundamental for a better outcome.

Open access

Verena Schwetz, Felix Aberer, Claudia Stiegler, Thomas R Pieber, Barbara Obermayer-Pietsch and Stefan Pilz

Summary

Cushing's syndrome (CS) due to ectopic ACTH production accounts for about 10% of all types of CS and is frequently associated with metabolic alkalosis. Treatment of CS involves surgical resection and/or medical therapy to control hypercortisolism. We present the case of an 80-year-old woman affected by CS due to an unknown cause. The patient had severe metabolic alkalosis with refractory hypokalemia. To treat the underlying CS, fluconazole was initiated due to unavailability of ketoconazole. In spite of markedly decreasing cortisol levels, metabolic alkalosis persisted. Treatment of metabolic alkalosis with acetazolamide was thus initiated and pH levels successfully lowered. This case report shows that hypercortisolism can be effectively treated with fluconazole in cases where ketoconazole is unavailable or not tolerated and that persistent severe metabolic alkalosis caused by glucocorticoid excess can be safely and successfully treated with acetazolamide.

Learning points

  • Hypercortisolism can be effectively treated with fluconazole where ketoconazole is unavailable or not tolerated.

  • Glucocorticoid excess can cause severe metabolic alkalosis.

  • Persistent severe metabolic alkalosis can be safely and successfully treated with acetazolamide.