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Open access

Danielle R Bullock, Bradley S Miller, H Brent Clark and Patricia M Hobday

Summary

IgG4-related hypophysitis is an important diagnostic consideration in patients with a pituitary mass or pituitary dysfunction and can initially present with headaches, visual field deficits and/or endocrine dysfunction. Isolated IgG4-related pituitary disease is rare, with most cases of IgG4-related disease involving additional organ systems. We report the case of a teenage female patient with isolated IgG4-related hypophysitis, diagnosed after initially presenting with headaches. Our patient had no presenting endocrinologic abnormalities. She was treated with surgical resection, prednisolone and rituximab with no further progression of disease and sustained normal endocrine function. This case, the youngest described patient with isolated IgG4-related hypophysitis and uniquely lacking endocrinologic abnormalities, adds to the limited reports of isolated pituitary disease. The use of rituximab for isolated pituitary disease has never been described. While IgG4-related hypophysitis has been increasingly recognized, substantial evidence concerning the appropriate treatment and follow-up of these patients is largely lacking.

Learning points:

  • IgG4-related hypophysitis most often occurs in the setting of additional organ involvement but can be an isolated finding. This diagnosis should therefore be considered in a patient presenting with pituitary abnormalities.

  • Most patients with IgG4-related hypophysitis will have abnormal pituitary function, but normal functioning does not exclude this diagnosis.

  • Corticosteroids have been the mainstay of therapy for IgG4-related disease, with other immunosuppressive regimens being reserved for refractory cases. Further research is needed to understand the effectiveness of corticosteroid-sparing regimens and whether there is utility in using these agents as first-line therapies.

Open access

Maria P Yavropoulou, Christos Poulios, Christoforos Foroulis, Symeon Tournis, Prodromos Hytiroglou, Kalliopi Kotsa, Isaak Kessisoglou and Pantelis Zebekakis

Summary

Tumor-induced osteomalacia (TIO) is a rare form of hypophosphatemia usually caused by phosphaturic mesenchymal tumors (PMTs); the biologic behavior of PMTs is under investigation. Herein we present a case of TIO with a protracted course over 12 years leading to a fatal outcome. A 39-year-old man presented with weakness in 2004 and was found to have decreased serum phosphorus, phosphaturia and low levels of 1,25-dihydroxyvitamin D3. Four years later he developed a painful left calf mass. The lesion was resected, but recurred causing extreme pain and dysfunction. Radiological examination showed a large cluster of soft tissue tumors affecting all the muscle compartments of the calf and a smaller lesion inside the metaphysis of the tibia. Above-knee amputation was performed. Histological examination of all lesions showed a cellular spindle cell neoplasm with variously sized vessels, wide vessel-like spaces and scattered deposits of calcified extracellular material. The tumor infiltrated skeletal muscles, subcutaneous fat and the proximal end of the fibula. The tibial lesion had identical histology. Three years after the amputation the patient presented with cough and dyspnea. Radiological examination, followed by an open biopsy, showed that there were multiple metastatic nodules of PMTs in both lungs. Shortly after the diagnosis the patient died. This case illustrates that even benign cases of PMTs may lead to a fatal outcome and the classification of PMTs into benign and malignant should be reassessed in order to correspond to its biological behavior.

Learning points:

  • PMTs, aside from having locally aggressive behavior, may metastasize and cause death

  • PMTs may behave aggressively despite ‘benign’ histological findings

  • Accurate diagnosis of tumor-induced osteomalacia and patient management require a multidisciplinary approach

Open access

Raluca Maria Furnica, Julie Lelotte, Thierry Duprez, Dominique Maiter and Orsalia Alexopoulou

Summary

A 26-year-old woman presented with severe postpartum headaches. Magnetic resonance imaging (MRI) revealed a symmetric, heterogeneous enlargement of the pituitary gland. Three months later, she developed central diabetes insipidus. A diagnosis of postpartum hypophysitis was suspected and corticosteroids were prescribed. Six months later, the pituitary mass showed further enlargement and characteristics of a necrotic abscess with a peripheral shell and infiltration of the hypothalamus. Transsphenoidal surgery was performed, disclosing a pus-filled cavity which was drained. No bacterial growth was observed, except a single positive blood culture for Staphylococcus aureus, considered at that time as a potential contaminant. A short antibiotic course was, however, administered together with hormonal substitution for panhypopituitarism. Four months after her discharge, severe headaches recurred. Pituitary MRI was suggestive of a persistent inflammatory mass of the sellar region. She underwent a new transsphenoidal resection of a residual abscess. At that time, the sellar aspiration fluid was positive for Staphylococcus aureus and she was treated with antibiotics for 6 weeks, after which she had complete resolution of her infection. The possibility of a pituitary abscess, although rare, should be kept in mind during evaluation for a necrotic inflammatory pituitary mass with severe headaches and hormonal deficiencies.

Learning points:

  • The possibility of a pituitary abscess, although rare, should be kept in mind during evaluation for a necrotic inflammatory pituitary mass with severe headaches and hormonal deficiencies.

  • In a significant proportion of cases no pathogenic organism can be isolated.

  • A close follow-up is necessary given the risk of recurrence and the high rate of postoperative pituitary deficiencies.

Open access

Leanne Hunt, Barney Harrison, Matthew Bull, Tim Stephenson and Amit Allahabadia

Summary

This case report reviews the rare condition of Riedel’s thyroiditis via a patient case. The report highlights the difficulties that one may encounter when managing such a case in regards to patient symptoms, side effects of medications and the relapsing nature of the condition. The case report also highlights novel treatment in the treatment of Riedel’s thyroiditis, rituximab, how this works and the resolution of symptoms that we have achieved with our patient on this treatment.

Learning points:

  • Riedel’s thyroiditis is characterised by chronic inflammation, which causes dense fibrosis in the thyroid gland.

  • Riedel’s thyroiditis can present with neck pain, dysphagia and dyspnoea with a firm, non-tender mass found on examination.

  • Riedel’s thyroiditis is part of the IgG4-related systemic disorders.

  • Rituximab is a monoclonal antibody that works against the protein CD20.

Open access

Tsung-Chun Huang, Yu-Kai Cheng, Tsung-Wei Chen, Yung-Chang Hsu, En-Wei Liu and Hsin-Han Chen

Summary

Thyroid cancer with cranial metastasis in a pregnant woman is very rare. In the literature, most cases are diagnosed early from neurogenic signs or symptomatic thyroid gland. Pregnancy also contributes to a hesitation toward early surgical and medical treatments. We reported a scalp tumor in a physically healthy 37-year-old pregnant female with a follicular thyroid carcinoma (FTC) with lung, bone and cranial metastasis in initial presentation. Silent neurogenic and physical examinations make an early diagnosis very challenging. Resection of scalp and intracranial tumor, a thyroidectomy, post-operative radioactive iodine therapy and tyrosine kinase inhibitors were employed as treatment. The scalp tumor was confirmed as a metastatic follicular thyroid carcinoma via positive immunoreactivity for thyroglobulin and thyroid transcription factor 1 in tumor cells. Blood examination revealed an elevated thyroglobulin level (>5335 ng/mL). The patient was discharged without any neurological deficit. An asymptomatic scalp tumor in a pregnant woman with a normal thyroid disease history needs differential diagnosis from intracranial origin. Rapid progression and an elevated thyroglobulin level are the indicators that further image study is needed. Aggressive surgical excision of resectable thyroid gland and metastatic tumor are essential for a longer survival rate. There is nothing to indicate that a post-partum operation will worsen prognosis.

Learning points:

  • Follicular thyroid cancer with cranial metastasis in initial presentation can be asymptomatic.

  • Follicular thyroid cancer with cranial metastasis in a pregnant woman can be treated after delivery.

  • Rapid enlargement of scalp tumor is indicated for further image study even in a patient without any neurological deficit.

Open access

Emilia Sbardella, George Farah, Ahmed Fathelrahman, Simon Cudlip, Olaf Ansorge, Niki Karavitaki and Ashley B Grossman

Summary

Pituitary adenomas are a common intracranial neoplasm, usually demonstrating a benign phenotype. They can be classified according to pathological, radiological or clinical behaviour as typical, atypical or carcinomas, invasive or noninvasive, and aggressive or nonaggressive. Prolactinomas account for 40–60% of all pituitary adenomas, with dopamine agonists representing the first-line treatment and surgery/radiotherapy reserved for drug intolerance/resistance or in neuro-ophthalmological emergencies. We present the case of a 62-year-old man with an apparently indolent prolactin-secreting macroadenoma managed with partial resection and initially showing a biochemical response to cabergoline. Five years later, the tumour became resistant to cabergoline, despite a substantial increase in dosage, showing rapid growth and causing worsening of vision. The patient then underwent two further transsphenoidal operations and continued on high-dose cabergoline; despite these interventions, the tumour continued enlarging and prolactin increased to 107 269 U/L. Histology of the third surgical specimen demonstrated features of aggressive behaviour (atypical adenoma with a high cell proliferation index) not present in the tumour removed at the first operation. Subsequently, he was referred for radiotherapy aiming to control tumour growth.

Learning points:

  • The development of secondary resistance to dopamine agonists (DAs) is a serious sign as it may be associated with de-differentiation of the prolactinoma and thus of aggressive or malignant transformation.

  • Significant de-differentiation of the adenoma documented on consecutive histologies suggests a possible transition to malignancy.

  • A combination of histological ‘alarm’ features associated with persistent growth and escape from DAs treatment in recurrent adenomas should alert clinicians and demands close follow-up.

  • A multidisciplinary approach by pathologists, endocrinologists and neurosurgeons is essential.

Open access

Joana Simões-Pereira, Rafael Adame Cabrera and Valeriano Leite

Summary

Thyroid fibromatosis is a very rare lesion; to our knowledge, there are only four cases reported in the medical literature. Herein, we report the clinical case of a woman with thyroid fibromatosis with a long follow-up (11 years). A 63-year-old female patient, with an increasing multinodular goitre without compressive symptoms, was admitted to total thyroidectomy. The histology revealed a spindle-cell proliferation with fibroblastic characteristics with no atypia and thin capillary vessels. Immunohistochemistry was positive for beta-catenin, focally to desmin and alfa-actin and negative for cytokeratins and CD34. Thyroid cells did not display any features of papillary thyroid cancer. These characteristics were compatible with thyroid fibromatosis. For the past 11 years, the patient has been periodically followed up with neck CTs and she has not shown any signs of recurrence. Thyroid fibromatosis has been associated with invasion of surrounding structures in previous reported cases. However, this aggressive behaviour was not observed in our patient. The most challenging differential diagnosis is with papillary thyroid cancer with fibromatosis-like stroma, in which the malignant component is usually peripheral. Therefore, in these cases, it is mandatory to perform an extensive examination of the resected sample.

Learning points:

  • Fibromatosis is a mesenchymal lesion that consists of an infiltrative proliferation of fibroblasts without atypia.

  • Thyroid fibromatosis is a rare entity in this gland. In previously reported cases, it has been associated with an invasive behaviour but this was not the case in our patient.

  • When spindle-cell proliferation with fibroblastic/myofibroblastic characteristics is detected on thyroid histology, it is mandatory to exclude a papillary thyroid carcinoma with fibromatosis-like stroma.

Open access

Arshiya Tabasum, Ishrat Khan, Peter Taylor, Gautam Das and Onyebuchi E Okosieme

Summary

TSH receptor antibodies (TRAbs) are the pathological hallmark of Graves’ disease, present in nearly all patients with the disease. Euthyroid Graves’ ophthalmopathy (EGO) is a well-recognized clinical entity, but its occurrence in patients with negative TRAbs is a potential source of diagnostic confusion. A 66-year-old female presented to our endocrinology clinic with right eye pain and diplopia in the absence of thyroid dysfunction. TRAbs were negative, as measured with a highly sensitive third-generation thyrotropin-binding inhibitory immunoglobulin (TBII) ELISA assay. CT and MRI scans of the orbit showed asymmetrical thickening of the inferior rectus muscles but no other inflammatory or malignant orbital pathology. Graves’ ophthalmopathy (GO) was diagnosed on the basis of the clinical and radiological features, and she underwent surgical recession of the inferior rectus muscle with complete resolution of the diplopia and orbital pain. She remained euthyroid over the course of follow-up but ultimately developed overt clinical and biochemical hyperthyroidism, 24 months after the initial presentation. By this time, she had developed positive TRAb as well as thyroid peroxidase antibodies. She responded to treatment with thionamides and remains euthyroid. This case highlights the potential for negative thyroid-specific autoantibodies in the presentation of EGO and underscores the variable temporal relationship between the clinical expression of thyroid dysfunction and orbital disease in the natural evolution of Graves’ disease.

Learning points

  • Euthyroid Graves’ ophthalmopathy can present initially with negative thyroid-specific autoantibodies.

  • Patients with suggestive symptoms of ophthalmopathy should be carefully evaluated for GO with imaging studies even when thyroid function and autoantibodies are normal.

  • Patients with EGO can develop thyroid dysfunction within 4 years of follow-up underpinning the need for long-term follow-up and continued patient and physician vigilance in patients who have been treated for EGO.

Open access

Lara Ulrich, Graham Knee and Colin Todd

Summary

Haemorrhage of a parathyroid adenoma is a rare clinical presentation. This report describes a previously fit and well 54-year-old woman who presented with acute neck swelling and pain with an overlying ecchymosis. Admission laboratory tests revealed a raised parathyroid hormone and hypercalcaemia. A computed tomography (CT) scan showed widespread anterior cervical haemorrhage and a lesion at the inferior pole of the left thyroid gland. A working diagnosis of spontaneous haemorrhage from a parathyroid adenoma was made. As she was haemodynamically stable, she was treated conservatively with a period of observation in hospital to monitor for signs of neck organ compression. Follow-up imaging with CT, ultrasound and sestamibi confirmed the likely source of haemorrhage as a parathyroid nodule with significant vascularity. The diagnosis was confirmed on histopathological analysis after elective surgical exploration of the neck 6 months after her presentation. This revealed a benign parathyroid adenoma with evidence of acute and chronic bleeding. The patient made a full recovery with immediate normalisation of her biochemistry post-operatively. Despite developing a hoarse voice in the immediate post-operative period, this resolved completely within 1 month. This case report provides further evidence to support a minimal delay for elective surgery after conservative management to reduce the risks associated with recurrent bleeding.

Learning points

  • Haemorrhage of a parathyroid adenoma should be a differential for all cases of acute cervical swelling or ecchymosis with no precipitating factor.

  • The clerking should identify any risk factors for endocrine disease.

  • Blood tests to screen for abnormal parathyroid biochemistry should be performed on admission.

  • Detailed imaging of the neck is essential to identify the source of haemorrhage and risk of compression to vital neck organs.

  • Conservative management is a suitable option for patients who remain haemodynamically stable but all should undergo a period of observation in hospital.

  • Conservatively managed patients should be considered for definitive surgical exploration within a month of presentation to avoid the risks of recurrent bleeding.