Endocrine Abstracts

Introduction: Cushing’s syndrome usually presents with a phenotype including central obesity, striae, hypertension and diabetes. We report a case of Cushing’s syndrome presenting in an atypical manner.

Case: A 73 year old lady was referred to neurology with a year’s history of progressive limb wasting, weakness and recurrent falls. The neurology team diagnosed accelerated sarcopenia. Investigations included CK (normal), EMG (suggested myopathic process), nerve conduction studies (no evidence of large fibre neuropathy) and muscle biopsy (atrophic change compatible with on-going neurogenic process). She had a 4-year history of hypertension and type 2 diabetes and morning cortisol was 750 nmol/l. Clinical features included progressive weight loss, immobility, severe muscle wasting and friable skin with extensive bruising and breakdown. Endocrine investigations (18 months post initial presentation) revealed: UFC 1227 nmol/24 h, midnight salivary cortisol 45.1 nmol/l, non-suppressed cortisol following LDDST at 493 nmol/l, normal potassium and ACTH 18 ng/l. Cushing’s syndrome secondary to ectopic ACTH from a malignancy was considered due to the severe clinical features. Initial MRI pituitary was normal. CT whole body showed no evidence of malignancy. Dynamic pituitary MRI revealed area of reduced signal within the pituitary-likely microadenoma. A diagnosis of Cushing’s disease was made and patient was started on metyrapone. On metyrapone 1 g tds her mean cortisol on day curve done by mass spectrometry was 390 nmol/l. Antihypertensives and metformin were discontinued. Concurrent intensive physiotherapy lead to the regaining of limited mobility.

Conclusion: Cushing’s disease can rarely present with severe atypical clinical features that can mimic pathology of various systems, on this occasion accelerated sarcopenia, warranting neurological investigations. It is important to consider and recognise this condition early in order to prevent extreme phenotypes, where regaining full recovery may be prolonged or unattained.