Browse

You are looking at 1 - 6 of 6 items for :

  • Otolaryngology x
Clear All
Open access

Jin-Ying Lu, Po-Ju Hung, Pei-Lung Chen, Ruoh-Fang Yen, Kuan-Ting Kuo, Tsung-Lin Yang, Chih-Yuan Wang, Tien-Chun Chang, Tien-Shang Huang and Ching-Chung Chang

Summary

We report a case of follicular thyroid carcinoma with concomitant NRAS p.Q61K and GNAS p.R201H mutations, which manifested as a 13.5 cm thyroid mass with lung, humerus and T9 spine metastases, and exhibited good response to radioactive iodine treatment.

Learning points

  • GNAS p.R201H somatic mutation is an activating or gain-of-function mutation resulting in constitutively activated Gs-alpha protein and downstream cAMP cascade, independent of TSH signaling, causing autonomously functioning thyroid nodules.

  • NRAS p.Q61K mutations with GNAS p.R201H mutations are known for a good radioactive iodine treatment response.

  • Further exploration of the GNAS-activating pathway may provide therapeutic insights into the treatment of metastatic follicular carcinoma.

Open access

Naweed Alzaman, Anastassios G Pittas, Miriam O'Leary and Lisa Ceglia

Summary

Transient hypocalcemia after thyroidectomy is not uncommon and the risk increases with the extent of neck surgery. We report a case of severe and prolonged hypocalcemia after total thyroidectomy complicated by thoracic duct injury. Hypoparathyroidism and thoracic duct injury are potential complications following total thyroidectomy with extensive lymph node dissection. This case suggested that having both conditions may complicate treatment of hypoparathyroid-induced hypocalcemia by way of losses of calcium and vitamin D in the chyle leak.

Learning points

  • This report highlights chyle leak as an uncommon cause of prolonged hypocalcemia in patients who have undergone extensive neck surgery.

  • Chyle has an electrolyte concentration similar to that of plasma.

  • Medical treatment options for a chyle leak include fat-free oral diet or parenteral nutrition without oral intake, pharmacological treatment (primarily octreotide).

Open access

Stephanie Teasdale, Fahid Hashem, Sarah Olson, Benjamin Ong and Warrick J Inder

Summary

A case of recurrent pituitary apoplexy is described in a 72-year-old man who initially presented with haemorrhage in a non-functioning pituitary adenoma. Five years later, he re-presented with a severe pituitary haemorrhage in an enlarging sellar mass invading both cavernous sinuses causing epistaxis and bilateral ocular paresis. Subsequent histology was consistent with a sellar malignant spindle and round cell neoplasm. Multiple pituitary tumours have previously been reported to coexist in the same individual, but to our knowledge this is the only case where two pathologically distinct pituitary neoplasms have sequentially arisen in a single patient. This case is also notable with respect to the progressive ocular paresis, including bilateral abducens nerve palsies, and the presentation with epistaxis.

Learning points

  • Ocular paresis in pituitary apoplexy can result from tumour infiltration of nerves, or by indirect compression via increased intrasellar pressure.

  • Epistaxis is a very rare presentation of a pituitary lesion.

  • Epistaxis more commonly occurs following trans-sphenoidal surgery, and can be delayed.

Open access

J K Prague, C L Ward, O G Mustafa, B C Whitelaw, A King, N W Thomas and J Gilbert

Summary

Therapeutic shrinkage of prolactinomas with dopamine agonists achieves clinical benefit but can expose fistulae that have arisen as a result of bony erosion of the sella floor and anterior skull base by the invasive tumour, resulting in the potential development of cerebrospinal fluid (CSF) rhinorrhoea, meningitis, and rarely pneumocephalus. Onset of symptoms is typically within 4 months of commencing therapy. The management is typically surgical repair via an endoscopic transnasal transsphenoidal approach. A 23-year-old man presented to the Emergency Department with acute left limb weakness and intermittent headaches. Visual fields were full to confrontation. Immediate computed tomography and subsequent magnetic resonance imaging (MRI), demonstrated a 5 cm lobular/cystic mass invading the right cavernous sinus, displacing and compressing the midbrain, with destruction of the bony sella. He was referred to the regional pituitary multidisciplinary team (MDT). Serum prolactin was 159 455 mIU/l (7514.37 ng/ml) (normal ranges 100–410 mIU/l (4.72–19.34 ng/ml)). Cabergoline was commenced causing dramatic reduction in tumour size and resolution of neurological symptoms. Further dose titrations were required as the prolactin level plateaued and significant residual tumour remained. After 13 months of treatment, he developed continuous daily rhinorrhea, and on presenting to his general practitioner was referred to an otolaryngologist. When next seen in the routine regional pituitary clinic six-months later he was admitted for urgent surgical repair. Histology confirmed a prolactinoma with a low proliferation index of 2% (Ki-67 antibody). In view of partial cabergoline resistance he completed a course of conventional radiotherapy. Nine months after treatment the serum prolactin had fallen to 621 mIU/l, and 12 months after an MRI showed reduced tumour volume.

Learning points

  • CSF rhinorrhoea occurred 13 months after the initiation of cabergoline, suggesting a need for vigilance throughout therapy.

  • Dedicated bony imaging should be reviewed early in the patient pathway to assess the potential risk of CSF rhinorrhoea after initiation of dopamine agonist therapy.

  • There was a significant delay before this complication was brought to the attention of the regional pituitary MDT, with associated risk whilst left untreated. This demonstrates a need for patients and healthcare professionals to be educated about early recognition and management of this complication to facilitate timely and appropriate referral to the MDT for specialist advice and management. We changed our nurse-led patient education programme as a result of this case.

  • Having developed partial cabergoline resistance and CSF rhinorrhoea, an excellent therapeutic response was achieved with conventional radiotherapy after limited surgery.

Open access

Adrienne Dow, Run Yu and John Carmichael

Summary

To report the puzzling, rare occurrence of coexisting adrenal insufficiency and Cushing's syndrome from chronic, intermittent use of intranasal betamethasone spray. A 62-year-old male was referred to our endocrinology clinic for management of adrenal insufficiency. This previously healthy individual began to experience chronic sinus symptoms in 2007, was treated with multiple ensuing sinus surgeries, and received oral glucocorticoid for 6 months. In the following 5 years, he suffered severe fatigue and was diagnosed with secondary adrenal insufficiency. He could not be weaned from corticosteroid and developed clear cushingoid features. In our clinic, careful inquiry on medications revealed chronic, intermittent use of high-dose intranasal betamethasone since 2008, which was not apparent to his other treating physicians. His cushingoid features significantly improved after holding intranasal betamethasone.

Learning points

  • Chronic, intermittent intranasal betamethasone can cause secondary adrenal insufficiency and iatrogenic Cushing's syndrome when used in excess.

  • Topical corticosteroid use should be considered in the differential diagnosis of adrenal insufficiency or Cushing's syndrome.

Open access

F Serra, S Duarte, S Abreu, C Marques, J Cassis and M Saraiva

Summary

Ectopic secretion of ACTH is an infrequent cause of Cushing's syndrome. We report a case of ectopic ACTH syndrome caused by a nasal paraganglioma, a 68-year-old female with clinical features of Cushing's syndrome, serious hypokalaemia and a right paranasal sinus' lesion. Cranial magnetic resonance image showed a 46-mm mass on the right paranasal sinuses. Endocrinological investigation confirmed the diagnosis of ectopic ACTH production. Resection of the tumour normalised ACTH and cortisol secretion. The tumour was found to be a paraganglioma through microscopic analysis. On follow-up 3 months later, the patient showed nearly complete clinical recovery. Ectopic ACTH syndrome due to nasal paraganglioma is extremely uncommon, as only two other cases have been discussed in the literature.

Learning points

  • Ectopic Cushing's syndrome accounts for 10% of Cushing's syndrome etiologies.

  • Most paraganglioma of the head and neck are not hormonally active.

  • Nasal paraganglioma, especially ACTH producing, is a very rare tumour.