Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review.

Cowden syndrome (CS) is a multi-system disease that carries an increased lifetime risk of developing certain cancers as well as benign neoplasms. The presence of features of CS in the general unaffected population results in difficulties in the recognition and diagnosis of this condition. Early diagnosis is essential to prevent the development of malignant neoplasms, yet despite the introduction of diagnostic criteria and risk calculators, accurate diagnosis remains a challenge. We identified three patients who presented to the symptomatic breast unit of a University Teaching Hospital over a period of 12 weeks who subsequently were diagnosed with CS. In this article, we discuss their clinical presentations as well as their path to diagnosis. The short timeframe between the presentations of these patients undoubtedly expedited their diagnosis. Upon application of internationally recognized diagnostic criteria, only two out of our three patients were accurately diagnosed. The risk of breast cancer in CS is comparable with that found in Hereditary Breast and Ovarian Cancer Syndrome and while a protocol for breast screening in these patients exists in most centres, no such protocol exists for patients with CS in our institution. The recommended cancer surveillance programs for patients with CS have not been found to prolong survival, however. CS consists of a vast array of diseases that span the various specialties and the subsequent varied phenotypic presentation poses diagnostic difficulties for clinicians as emphasized in our series. Continued research is required to improve recognition and diagnosis and will hopefully result in the emergence of life prolonging strategies.

Case Report of the surgical management of small bowel and colonic ischaemia associated with Anorexia Nervosa binge/purge subtype.

INTRODUCTION: Anorexia Nervosa affects up to 1% of the population and can present with binge/purge episodes. A paucity of literature exists regarding small bowel and colonic ischaemia relating to this common condition. We report our own experience and management of a patient with anorexia nervosa binge/purge subtype with small bowel and colon ischaemia and review existing cases in the literature. PRESENTATION OF CASE: A 32year old female self-presented to the emergency department complaining of abdominal pain, abdominal distension and vomiting on a background history of binge/purge subtype eating disorder, following consumption of a large amount of carbohydrates. Computed tomography (CT) of the abdomen was performed urgently which revealed extensive pneumatosis involving the stomach and its draining veins with evidence of extensive portal venous gas. A right hemicolectomy followed by re-look laparotomy in 48h with resection of jejunum, jejunojejunal anastomosis and end-ileostomy was performed with a successful outcome. DISCUSSION: Anorexia nervosa can be a potentially life-threatening disease, with rates of death 10-12 times that of the normal population. Ischaemic bowel is a rare potential complication, with mortality rates of up to 80% having been reported prior to this case. Although the exact mechanism remains to be elucidated, gastric dilation, abnormal digestive motility, and faecal impaction appear to contribute, on a background of impaired blood supply. CONCLUSION: Clinicians need to exhibit a high index of suspicion for patients with abdominal pain on the background of an eating disorder, particularly in the context of suspected recent refeeding/binge eating. Prompt involvement of appropriate radiology and surgery input are pivotal to outcome.

Serial explantation after parathyroid autotransplant for recurrent hypercalcemia in chronic renal failure.

INTRODUCTION: Development of autonomous parathyroid gland function can occur in cases of long standing renal disease, leading to hyperparathyroidism and hypercalcemia. Debate exists over the optimum surgical treatment strategy and the choice lies with the individual surgeon. We illustrated the method of total parathyroidectomy and autotransplantation to the forearm and proposed it to be superior to both total and subtotal parathyroidectomy. CASE PRESENTATION: This case illustrated the development of secondary and subsequently tertiary hyperparathyroidism in a 66-year-old man with a history of chronic renal failure. The patient was managed surgically by parathyroid autotransplantation and serial explantation. DISCUSSION: Refractory hypercalcemia due to autonomous parathyroid tissue following parathyroidectomy can be managed with greater ease and efficacy by serial explantation of autotransplanted tissue versus a more difficult re-exploration of the neck.

Minimally invasive parathyroidectomy using surgical sonography.

Minimally invasive parathyroidectomy is the procedure of choice for primary hyperparathyroidism due to parathyroid adenoma. Localization of the offending adenoma in minimally invasive parathyroidectomy (MIP) has been described in the literature aided by isotope, telescope or ultrasound guidance. We present a prospective study of two techniques based on surgeon experience. Thirty patients diagnosed with primary hyperparathyroidism at the Mater hospital in Dublin, Ireland were randomized to have a minimally invasive parathyroidectomy using surgical sonography (MIPUSS) or the conventional unilateral open procedure (OP) over a two year period. The age, sex and serum calcium/parathormone were comparable in both groups. There was no significant difference in complications between the two groups with temporary hypocalcemia occurring in 3 patients undergoing unilateral neck exploration and in 2 MIPUSS patients. There was one transient episode of recurrent laryngeal neuropraxia occurring in the OP group which resolved at 30 day follow-up. The incision size, operating time, hospital stay, and required post-operative analgesia were all markedly reduced in the MIPUSS group. In conclusion, MIPUSS is safe, effective and has advantages in terms of operating time, incision size and early discharge.