The complex of myxomas, spotty skin pigmentation and endocrine overactivity, or Carney complex (CNC), is a familial multiple endocrine neoplasia and lentiginosis syndrome. CNC is inherited in an autosomal dominant manner and is genetically heterogeneous. Its features overlap those of McCune-Albright syndrome and other multiple endocrine neoplasia (MEN) syndromes. Spotty skin pigmentation is the major clinical manifestation of the syndrome, followed by multicentric heart myxomas, which occur at a young age and are the lethal component of the disease. Myxomas may also occur on the skin (eyelid, external ear canal and nipple) and the breast. Breast myxomas, when present, are multiple and bilateral among female CNC patients, an entity which is also described as “breast-myxomatosis” and is a characteristic feature of the syndrome. Affected CNC patients often have tumours of two or more endocrine glands, including primary pigmented nodular adrenocortical disease (PPNAD), an adrenocorticotropin hormone (ACTH)-independent cause of Cushing’s syndrome, growth hormone (GH)-secreting and prolactin (PRL)-secreting pituitary adenomas, thyroid adenomas or carcinomas, testicular neoplasms (large-cell calcifying Sertoli cell tumours [LCCSCT]) and ovarian lesions (cysts and cancinomas). Additional infrequent but characteristic manifestations of CNC are psammomatous melanotic schwannomas (PMS), breast ductal adenomas (DAs) with tubular features, and osteochondromyxomas or “Carney bone tumour”.Teaching Points• Almost 60 % of the known CNC kindreds have a germline inactivating mutations in the PRKAR1A gene.• Spotty skin pigmentation is the major clinical manifestation of CNC, followed by heart myxomas.• Indicative imaging signs of PPNAD are contour abnormality and hypodense spots within the gland.• Two breast tumours may present in CNC: myxoid fibroadenomas (breast myxomatosis) and ductal adenomas.• Additional findings of CNC are psammomatous melanotic schwannomas (PMSs) and osteochondromyxomas.

Carney complex is a multiple neoplasia and lentiginosis syndrome that affects endocrine glands, including the pituitary, adrenals, and testes; thyroid gland involvement has not been unequivocally demonstrated. In the present study, the medical records of 12 families with Carney complex (53 affected patients) were reviewed for evidence of thyroid abnormality; 2 patients with thyroid carcinoma (1 papillary and 1 follicular; 3.8%) and 1 with follicular adenoma were identified in 3 unrelated kindreds. Six affected members of these kindreds were then screened for the presence of thyroid disease (familial cases). We also studied 5 patients with the complex who had no affected relatives (sporadic cases). These 11 patients consisted of 5 adults [mean age, 33.2 +/- 9.2 (+/- SD) yr] and 6 children and adolescents (mean age, 13.8 +/- 2.5 yr). All had normal results of physical and biochemical examination of the thyroid gland (total and free T4, T3, and TSH levels). Thyroid ultrasonography showed hypoechoic, cystic, solid, or mixed lesions in 3 of the 5 adults (60%) and 4 of the 6 children (67%). Two patients underwent fine needle aspiration biopsy, which identified follicular lesions. Thyroid gland abnormalities were documented in 5 siblings and 1 parent-child pair. We conclude that thyroid gland pathology is 1) common in patients with Carney complex; 2) includes a spectrum of abnormalities ranging from follicular hyperplasia and/or cystic changes to carcinoma; and 3) is inherited in an autosomal dominant manner, like the other manifestations of the syndrome, it is therefore, a candidate component of the syndrome. Ultrasonography is useful in the detection and clinical follow-up of these lesions.

In patients with NF2 and spinal tumors, extramedullary tumors (predominantly NSTs) were present in higher numbers and were associated with more surgery than were intramedullary tumors. Our data suggest that the association between nonsense and frameshift mutations and severe NF2 may extend to specific categories of spinal tumors.

MRI is an excellent imaging modality to evaluate orbital involvement in WG. A marked decrease in the T2 signal is a characteristic feature of this entity. The unenhanced, non-fat-suppressed T1-weighted sequence is the preferred method for lesion detection and for definition of the pattern of anatomic involvement when utilizing MRI.

Periampullary duodenal diverticula are not uncommon and are usually asymptomatic although complications may occasionally occur. Here, we report the case of a 72-year-old woman who presented with painless obstructive jaundice. Laboratory tests showed abnormally elevated serum concentrations of total and direct bilirubin, of alkaline phosphatase, of γ-glutamyl transpeptidase, and of aspartate and alanine aminotransferases. Serum concentrations of the tumor markers carbohydrate antigen 19-9 and carcinoembryonic antigen were normal. Abdominal ultrasonography showed dilatation of the common bile duct (CBD), but no gallstones were found either in the gallbladder or in the CBD. The gallbladder wall was normal. Computed tomography failed to detect the cause of CBD obstruction. Magnetic resonance imaging and magnetic resonance cholangiopancreatography revealed a periampullary diverticulum measuring 2 cm in diameter and compressing the CBD. The pancreatic duct was normal. Hypotonic duodenography demonstrated a periampullary diverticulum with a filling defect corresponding to the papilla. CBD compression by the diverticulum was considered as the cause of jaundice. The patient was successfully treated by surgical excision of the diverticulum. In conclusion, the presence of a periampullary diverticulum should be considered in elderly patients presenting with obstructive jaundice in the absence of CBD gallstones or of a tumor mass. Non-interventional imaging studies should be preferred for diagnosis of this condition, and surgical or endoscopic interventions should be used judiciously for the effective and safe treatment of these patients.

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BackgroundLaparoscopic cholecystectomy is the gold standard treatment of gallbladder disease. Post-cholecystectomy syndrome is a severe postoperative complication which can be caused by multiple mechanisms and can present with multiple disorders. The wide use of laparoscopy induces the need to understand more clearly the presentation and pathophysiology of this syndrome. Post-cholecystectomy Mirizzi syndrome is one form of this syndrome and, according to literature, this is the first report that clearly describes it.Case presentationWe describe the case of a 62-year-old Greek woman who underwent laparoscopic cholecystectomy because of gallstone disease. A few days after surgery, post-cholecystectomy syndrome gradually developed with mild bilirubin increase in association with epigastric pain, nausea, and vomiting. After performing ultrasound, magnetic resonance cholangiopancreatography, and endoscopic retrograde cholangiopancreatography, we conducted a second laparoscopic surgery to manage the obstruction, which was converted to open surgery because of the remaining inflammation from the post-endoscopic retrograde cholangiopancreatography acute pancreatitis. Four polymeric laparoscopic clips were removed because they were identified as the cause of her post-cholecystectomy syndrome. She had a quick recovery without further complications.ConclusionsPostoperative Mirizzi syndrome induced by the migration of polymer laparoscopic clips is a rare (only one case referring to polymeric clips has been published in the literature) but a well-identified complication of laparoscopic cholecystectomy which can confuse the diagnostic and therapeutic field requiring simultaneous immediate management.

Our study showed that height gain is a simple way of distinguishing children with PCCS from those with CS; the interpretation of Dex-oCRH in children is confounded by severe obesity, which limits the utility of this test.