A case of cervical esophageal duplication cyst in a newborn infant.

Esophageal duplication cyst is a rare congenital anomaly resulting from a foregut budding error during the fourth to sixth week of embryonic development. Cervical esophageal duplication cysts are very rare and may cause respiratory distress in infancy. A full-term newborn girl who was born by normal delivery was transferred to our hospital because of swelling of the right anterior neck since birth. Cervical ultrasonography showed a 40 × 24 × 33 mm simple cyst on the right neck. Tracheal intubation was required at 2 weeks of age because of worsening external compression of the trachea. Fine-needle aspiration cytology revealed the existence of ciliated epithelium. At 1 month of age, exploration was performed through a transverse neck incision. The cyst had a layer of muscle connected to the lateral wall of the esophagus. Histopathological diagnosis was a cervical esophageal duplication cyst. We describe the clinical features of infantile cervical esophageal duplication cysts based on our experience of this rare disease in a neonate, along with a review of 19 cases previously reported in literature.

Laparoscopic repair of Bochdalek hernia with intrathoracic kidney in a 2-year-old child.

Intrathoracic kidney with Bochdalek hernia is a very rare congenital anomaly. Some case reports have discussed repair by laparotomy or thoracotomy. We report a case in a child performed using a laparoscopic approach. A 2-year-old boy arrived at our hospital with gastric volvulus caused by a left-sided Bochdalek hernia. CT also showed a left-sided intrathoracic kidney. After conservative therapy for the volvulus, laparoscopic repair of the diaphragmatic hernia was performed. The key problem during the operation was the presence of the intrathoracic kidney. If direct closure of the hernia had been performed without the intrathoracic kidney having been relocated to the abdomen, a complete closure would have been impossible because of the renal vessels. After the intrathoracic kidney was relocated to the abdomen, the diaphragmatic defect was closed. The boy has been doing well without complications for 5 years, and CT reveals that the left-sided kidney is almost normally positioned.

Recurrent pancreatitis caused by pancreatobiliary anomalies in children with annular pancreas.

PURPOSE: Annular pancreas (AP) is usually associated with duodenal obstruction in neonates. Pancreatitis with AP occurs frequently in adults but is rare in children. This article describes pancreatitis in children with AP and pancreatobiliary anomalies and its surgical treatment. PATIENTS AND METHODS: Six children who underwent duodenal bypass for AP subsequently developed recurrent pancreatitis. Three had trisomy 21. Duodenoduodenostomy had been performed in 5 patients and gastrojejunostomy in 1 patient for neonatal duodenal obstruction. We reviewed overall management, imaging, and surgical treatment in these children. RESULTS: All children subsequently complained of recurrent abdominal pain. Pancreatitis developed in 6 children, and magnetic resonance cholangiopancreatography and endoscopic retrograde cholangiopancreatography (ERCP) revealed associated pancreatobiliary anomalies such as pancreas divisum, pancreatobiliary malunion, choledochocele, and intraluminal duodenal diverticulum. In 5 cases, surgery for recurrent or chronic pancreatitis was performed. The range of follow-up was 11 to 54 months, and all children who underwent surgery had excellent results. CONCLUSIONS: Children with AP occasionally require reoperation for recurrent pancreatitis because of associate pancreatobiliary anomalies. Magnetic resonance cholangiopancreatography and ERCP provide excellent images of pancreatobiliary anomalies. Intraoperative cholangiopancreatography is also essential for accurate depiction of the ductal structure and selection of the appropriate surgical procedure.

Corticotropin-releasing factor (CRF) is involved in the acute anorexic effect of alpha-melanocyte-stimulating hormone: a study using CRF-deficient mice.

Alpha-melanocyte-stimulating hormone (alpha-MSH) and its receptors are critical and indispensable for maintaining appropriate feeding behavior and energy homeostasis in both mice and humans. Corticotropin-releasing factor (CRF) is a candidate for mediating the anorexic effect of alpha-MSH. In the present study, we examined whether CRF and its receptors are involved in the anorexic effect of alpha-MSH, using CRF-deficient (CRFKO) mice and a CRF receptor antagonist. Intracerebroventricular administration of NDP-MSH, a synthetic alpha-MSH analogue, suppressed food intake in wild-type (WT) mice. This effect was abolished by pretreatment with a non-selective CRF receptor antagonist, astressin, suggesting that the effect of alpha-MSH-induced anorexia was mediated by a CRF receptor. In CRFKO mice, administration with NDP-MSH did not affect food intake at an early phase (0-4h). In addition, CRF mRNA levels in the hypothalamus were significantly increased in NDP-MSH-treated mice. Therefore, our findings, using CRFKO, strongly support evidence that CRF is involved in the acute anorexic effect of alpha-MSH. On the other hand, NDP-MSH administered to CRFKO mice led to suppressed food intake at the late phase (4-12h), similar to the effect in WT mice. Further, NDP-MSH similarly reduced food intake during the late phase in all types of mice, including WT, CRFKO, and CRFKO with corticosterone replacement. The results would suggest that alpha-MSH-induced suppression of food intake at late phase was independent of glucocorticoids and CRF.

A case of multiple endocrine neoplasia type II accompanied by thyroid medullary carcinoma and pheochromocytomas expressing corticotropin-releasing factor and urocortins.

A 38-year-old woman with RET gene mutation presented with tumors in her thyroid and bilateral adrenal glands. I-metaiodobenzylguanidine scintigraphy revealed accumulation of the radioisotope in both adrenal glands. Both plasma adrenaline and noradrenaline levels were elevated. The circadian rhythms for plasma adrenocorticotropic hormone (ACTH) and cortisol levels were disturbed. Plasma ACTH and cortisol levels failed to be suppressed by an overnight dexamethasone test, suggesting autonomic secretion of ACTH and cortisol, although the patient had no typical Cushingoid features, hypertension, or impaired glucose tolerance. Pathological examination showed that these tumors were pheochromocytoma and thyroid medullary carcinoma, respectively, both of which highly expressed corticotropin-releasing factor, urocortin1, and urocortin3. Together with the endocrinological and pathological observations, the patient was diagnosed as multiple endocrine neoplasia type II with corticotropin-releasing factor- and urocortin-producing tumors that stimulated ACTH and glucocorticoid secretion.

Toldt's fascia flap: a new technique for repairing large diaphragmatic hernias.

The most popular techniques for repairing large diaphragmatic defects involve the use of synthetic patches. We present an alternative approach using living tissue. We reviewed our cases of congenital diaphragmatic hernia (CDH) diagnosed within the first 24 h of life from 1991 to 2003. Toldt's fascia (TF) flap was used to repair defects that were too large to repair primarily even though the anterior rim of the diaphragm was present. After confirming that a small medial muscle remnant of the diaphragm was present, its mesothelial covering was incised, and the incision was extended to the TF far enough to create a flap sufficiently large to repair the defect. The TF flap, consisting of the small medial muscle remnant, TF, peritoneum, and retroperitoneal connective tissue, was mobilized carefully from the ipsilateral kidney and adrenal gland, and the repair completed with interrupted sutures using nonabsorbable material. We used this TF flap approach in seven of 43 patients with CDH. Two had right-sided CDH. Six survived. The mean size of the diaphragmatic defects in the seven TF flap cases was 5.43+/-0.53 x 3.86+/-1.07 cm, which was significantly larger than the defects in direct primary repair cases (3.40+/-0.77 x 2.03+/-0.59 cm) (p<0.01). The six survivors had good outcomes, and none of them have had recurrence of herniation or required any additional surgical intervention (mean follow-up period: 4.7 years). To the best of our knowledge, this is the first report of TF being used to repair large diaphragmatic hernias. Our technique is simple and has proven to be reliable for durable restoration of the diaphragm, suggesting that it could reduce the dependence on synthetic patch repair, which is associated with certain long-term complications.

A case of preclinical Cushing's disease, accompanied with thyroid papillary carcinoma and adrenal incidentaloma.

A 75-year-old woman had tumors in her pituitary, thyroid and left adrenal gland. Plasma ACTH and cortisol levels were both mildly elevated. Both plasma ACTH and cortisol concentrations were partially suppressed by 1 mg of overnight dexamethasone suppression test, while both were inhibited with a dosage of 8 mg dexamethasone. Plasma ACTH and cortisol levels were increased in response to human CRH and desmopressin. Together with the observation of pituitary microadenoma, the patient had a pituitary ACTH-producing tumor. The patient, however, had no typical Cushingoid features, hypertension, or impaired glucose tolerance, suggesting that the tumor had an autonomic ACTH secretion that was insufficient for expressing clinical symptoms, the so-called preclinical Cushing's disease. A case of preclinical Cushing's disease is extremely rare. Further, the patient had thyroid papillary carcinoma and non-functioning adrenal tumor. Molecular genetic analysis demonstrated a polymorphism of the menin gene in the patient. Even without Cushingoid features in pituitary incidentaloma, we concluded that the elevated ACTH and cortisol levels should be followed up by CRH, desmopressin and dexamethasone suppression tests. This patient with preclinical Cushing's disease would be observed whether the physical conditions in the patient develop to overt Cushing's disease.