Calretinin, ß-tubulin immunohistochemistry, and submucosal nerve trunks morphology in Hirschsprung disease: possible applications in clinical practice.

OBJECTIVES: The aim of this study was to investigate calretinin and ß-tubulin immunohistochemical expression together with submucosal nerve trunks morphology in differently innervated segments of Hirschsprung disease (HD) and total colonic aganglionosis (TCA). METHODS: A total of 25 cases (22 HD, 3 TCA) and 18 controls were processed for calretinin and ß-tubulin immunohistochemistry. Sections representative of distal aganglionic, transition, and proximal ganglionic segments were evaluated by a visual grading score; ß-tubulin was evaluated also by image analysis. Submucosal nerve trunks hypertrophy and hyperplasia were measured by citomorphology. The length of proximal segment was correlated to postoperative bowel function. RESULTS: Controls showed intense calretinin and ß-tubulin staining. In HD and TCA, calretinin staining was related to the presence of ganglion cells: negative in distal, faint in transition, intense in proximal segment. ß-Tubulin staining was weak in all of the segments of HD and negative in TCA. Hypertrophic and hyperplastic nerve trunks characterized aganglionic segment, and progressively decreasing nerve size was observed in transition and ganglionic segments. Transient postoperative constipation, soiling, or enterocolitis was present in 59% of patients with HD without clear relation to proximal segment length or presence of hypertrophic nerve trunks. CONCLUSIONS: Calretinin is a reliable marker of the presence of ganglion cells, and, together with nerve hypertrophy, it helps to identify the transition zone. Length and nerve size of proximal segment in resected specimen did not affect the postsurgical intestinal function. Reduced ß-tubulin expression along the entire colonic tract, included proximal ganglionic segments, may represent a potential impairing factor for the enteric neural transmission.

Squamoid cyst of pancreatic ducts: a challenging differential diagnosis among benign pancreatic cysts.

CONTEXT: In the last years, cystic pancreatic lesions are often detected when clinically silent, because of the wider use of diagnostic imaging techniques. First described by Othman in 2007, "squamoid cyst of pancreatic ducts" represents a cystic dilation of ducts, lined by non-keratinized squamous epithelium. We report the first case of squamoid cyst of pancreatic ducts in Italy. CASE REPORT: A 68-year-old woman presented a cystic lesion (4 cm) of the pancreatic tail as incidental finding at MRI. It had a thickened wall, no internal septa and no communication with the Wirsung duct were detected. A CT scan showed a lamellar calcification on its posterior wall. A ¹8F-FDG-PET was negative. Blood tests were normal, including CEA and CA 19-9. We performed a spleen-preserving distal pancreatectomy. Histology showed a unilocular cyst, with serous fluid and a fibrous wall, with multilayered epithelium without cytological atypias. Immunohistochemistry showed CK 7 positive and CK 5 negative. The patient is still alive and without disease after 42 months of follow-up. CONCLUSIONS: In the English literature only seven cases resected for this cyst type have been reported. No preoperative test can achieve a definitive diagnosis, so surgical resection remains the treatment of choice in order to exclude malignancy. However, after intraoperative frozen section, a limited pancreatic resection can be performed.

Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia.

Cantrell's pentalogy (CP) is a rare, mainly sporadic spectrum of congenital midline thoracoabdominal defects that includes sternal anomalies, ventral diaphragmatic hernia, partial absence of the pericardium, supraumbilical abdominal wall defects, and congenital heart malformations. The approximate incidence is 1 in 100 000, with a 2∶1 male predominance. A 25-year-old pregnant woman was referred to the Prenatal Diagnosis Unit of the University Hospital of Padua for multiple congenital malformations at 21 weeks of gestation. A level 2 ultrasound scan was performed and confirmed the presence of multiple anomalies compatible with the diagnosis of CP associated with complete ectopia cordis. Fetal autopsy furthermore revealed asplenia, which usually presents as part of the heterotaxia spectrum. To our knowledge, an association of CP and complete ectopia cordis with asplenia has never been reported so far.

A 14-year-old girl with multiple tumors.

Pleomorphic xanthoastrocytoma (PXA) is a rare astrocytic tumor that usually occurs in the superficial cerebral hemispheres of children and young adult and has a favorable prognosis. We report a case of a 14-year-old girl with a recent history of sciatica and ataxic gait. Pre- and post-contrast brain and spinal MRI revealed the presence of multiple solid lesions with a cystic component in the cerebellum and the spinal cord with a concomitant massive leptomeningeal involvement Histological and immunohistochemical findings were concordant with a final diagnosis of WHO grade II PXA. Even the biological indolent PXAs' behavior, this is the third report in the literature of such an unusual multicentric PXA with leptomeningeal dissemination.