Endocrine Abstracts

Case history: We present the case of a 64 year old gentleman diagnosed with hypoparathyroidism following presentation with acute hypocalcemia post thoracic aneurysm surgery for aortic dissection. The etiology was felt to be a complication of thoracic surgery with possible disruption of blood supply to the parathyroid glands.

Deeper investigation at a subsequent review revealed persistent hypocalcaemia predating surgery by over 10 years. This was on the background of considerable mental health history diagnosed as obsessive compulsive disorder with compulsive spending. At clinic review he also had facial characteristics that raised the suspicion of an inherited genetic abnormality of Di-George syndrome as a unifying diagnosis. In retrospect, this gentleman had a chronic Type B aortic dissection on an aneurysmal ascending aortic arch, a classical cardiovascular manifestation of Di-George Syndrome. This case marks the oldest reported age at diagnosis for DiGeorge syndrome in the literature.

Investigations: Serum Calcium, PTH, CT-aorta, cytogenetic testing.

Results and treatment: Late diagnosis of Di-George resulted in the need for total aortic arch replacement (frozen elephant trunk technique), significant psychiatric morbidity and alfacalcidol replacement.

Conclusions and points for discussion: This case highlights the need to challenge established diagnoses. There is a clear need to review historical biochemical trends, and join together diagnoses made by disparate speciality teams – a key role for the modern endocrinologist!