Diagnosis and Treatment > Medication
Blacktown Clinical School, School of Medicine, Western Sydney University, Sydney, Australia
Search for other papers by Mawson Wang in
Google Scholar
PubMed
Search for other papers by Benjamin Jonker in
Google Scholar
PubMed
Search for other papers by Louise Killen in
Google Scholar
PubMed
Search for other papers by Yvonne Bogum in
Google Scholar
PubMed
Garvan Institute of Medical Research, Sydney, Australia
St. Vincent’s Clinical School, Faculty of Medicine, UNSW Sydney, Sydney, Australia
Search for other papers by Ann McCormack in
Google Scholar
PubMed
Blacktown Clinical School, School of Medicine, Western Sydney University, Sydney, Australia
Search for other papers by Ramy H Bishay in
Google Scholar
PubMed
Summary
Cushing’s disease is a rare disorder characterised by excessive cortisol production as a consequence of a corticotroph pituitary tumour. While the primary treatment is surgical resection, post-operative radiation therapy may be used in cases of ongoing inadequate hormonal control or residual or progressive structural disease. Despite improved outcomes, radiotherapy for pituitary tumours is associated with hypopituitarism, visual deficits and, rarely, secondary malignancies. We describe an unusual case of a 67-year-old female with presumed Cushing’s disease diagnosed at the age of 37, treated with transsphenoidal resection of a pituitary tumour with post-operative external beam radiotherapy (EBRT), ketoconazole for steroidogenesis inhibition, and finally bilateral adrenalectomy for refractory disease. She presented 30 years after her treatment with a witnessed generalised tonic-clonic seizure. Radiological investigations confirmed an extracranial mass infiltrating through the temporal bone and into brain parenchyma. Due to recurrent generalised seizures, the patient was intubated and commenced on dexamethasone and anti-epileptic therapy. Resection of the tumour revealed a high-grade osteoblastic osteosarcoma. Unfortunately, the patient deteriorated in intensive care and suffered a fatal cardiac arrest following a likely aspiration event. We describe the risk factors, prevalence and treatment of radiation-induced osteosarcoma, an exceedingly rare and late complication of pituitary irradiation. To our knowledge, this is the longest reported latency period between pituitary irradiation and the development of an osteosarcoma of the skull.
Learning points:
-
Cushing’s disease is treated with transsphenoidal resection as first-line therapy, with radiotherapy used in cases of incomplete resection, disease recurrence or persistent hypercortisolism.
-
The most common long-term adverse outcome of pituitary tumour irradiation is hypopituitarism occurring in 30–60% of patients at 10 years, and less commonly, vision loss and oculomotor nerve palsies, radiation-induced brain tumours and sarcomas.
-
Currently proposed characteristics of radiation-induced osteosarcomas include: the finding of a different histological type to the primary tumour, has developed within or adjacent to the path of the radiation beam, and a latency period of at least 3 years.
-
Treatment of osteosarcoma of the skull include complete surgical excision, followed by systemic chemotherapy and/or radiotherapy.
-
Overall prognosis in radiation-induced sarcoma of bone is poor.
-
Newer techniques such as stereotactic radiosurgery may reduce the incidence of radiation-induced malignancies.
Search for other papers by Kaja Grønning in
Google Scholar
PubMed
Search for other papers by Archana Sharma in
Google Scholar
PubMed
Search for other papers by Maria Adele Mastroianni in
Google Scholar
PubMed
Search for other papers by Bo Daniel Karlsson in
Google Scholar
PubMed
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Search for other papers by Eystein S Husebye in
Google Scholar
PubMed
Department of Medicine, Haukeland University Hospital, Bergen, Norway
Search for other papers by Kristian Løvås in
Google Scholar
PubMed
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway
Search for other papers by Ingrid Nermoen in
Google Scholar
PubMed
Summary
Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency. More than 90% is of B-cell origin. The condition is bilateral in up to 75% of cases, with adrenal insufficiency in two of three patients. We report two cases of adrenal insufficiency presenting at the age of 70 and 79 years, respectively. Both patients had negative 21-hydroxylase antibodies with bilateral adrenal lesions on CT. Biopsy showed B-cell lymphoma. One of the patients experienced intermittent disease regression on replacement dosage of glucocorticoids.
Learning points:
-
Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency.
-
Bilateral adrenal masses of unknown origin or in individuals with suspected extra-adrenal malignancy should be biopsied quickly when pheochromocytoma is excluded biochemically.
-
Steroid treatment before biopsy may affect diagnosis.
-
Adrenal insufficiency with negative 21-hydroxylase antibodies should be evaluated radiologically.
Search for other papers by Joanna Prokop in
Google Scholar
PubMed
Search for other papers by João Estorninho in
Google Scholar
PubMed
Search for other papers by Sara Marote in
Google Scholar
PubMed
Search for other papers by Teresa Sabino in
Google Scholar
PubMed
Search for other papers by Aida Botelho de Sousa in
Google Scholar
PubMed
Search for other papers by Eduardo Silva in
Google Scholar
PubMed
Search for other papers by Ana Agapito in
Google Scholar
PubMed
Summary
POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal protein and Skin changes) is a rare multisystemic disease. Clinical presentation is variable, the only mandatory criteria being polyneuropathy and monoclonal gammapathy in association with one major and one minor criterion. Primary adrenal insufficiency is rarely reported. We describe a case of a 33-year-old patient, in whom the presenting symptoms were mandibular mass, chronic sensory-motor peripheral polyneuropathy and adrenal insufficiency. The laboratory evaluation revealed thrombocytosis, severe hyperkalemia with normal renal function, normal protein electrophoresis and negative serum immunofixation for monoclonal protein. Endocrinologic laboratory work-up confirmed Addison’s disease and revealed subclinical primary hypothyroidism. Thoracic abdominal CT showed hepatosplenomegaly, multiple sclerotic lesions in thoracic vertebra and ribs. The histopathologic examination of the mandibular mass was nondiagnostic. Bone marrow biopsy revealed plasma cell dyscrasia and confirmed POEMS syndrome. Axillary lymphadenopathy biopsy: Castleman’s disease. Gluco-mineralocorticoid substitution and levothyroxine therapy were started with clinical improvement. Autologous hematopoietic cell transplantation (HCT) was planned, cyclophosphamide induction was started. Meanwhile the patient suffered two ischemic strokes which resulted in aphasia and hemiparesis. Cerebral angiography revealed vascular lesions compatible with vasculitis and stenosis of two cerebral arteries. The patient deceased 14 months after the diagnosis. The young age at presentation, multiplicity of manifestations and difficulties in investigation along with the absence of serum monoclonal protein made the diagnosis challenging. We report this case to highlight the need to consider POEMS syndrome in differential diagnosis of peripheral neuropathy in association with endocrine abnormalities even in young patients.
Learning points:
-
POEMS syndrome is considered a ‘low tumor burden disease’ and the monoclonal protein in 15% of cases is not found by immunofixation.
-
Neuropathy is the dominant characteristic of POEMS syndrome and it is peripheral, ascending, symmetric and affecting both sensation and motor function.
-
Endocrinopathies are a frequent feature of POEMS syndrome, but the cause is unknown.
-
The most common endocrinopathies are hypogonadism, primary hypothyroidism and abnormalities in glucose metabolism.
-
There is no standard therapy; however, patients with disseminated bone marrow involvement are treated with chemotherapy with or without HCT.
