4311/4526. Coexistence of hereditary hemorrhagic telangiectasia and fibropolycystic liver disease. This is a case report of a 43-year-old woman who received a transplant for end-stage liver disease due to hereditary hemorrhagic telangiectasia and fibropolycystic liver disease. This is an uncommon association of two autosomal-dominant conditions with defined genetic and molecular defects. The liver showed extensive vascular malformations of arteries and veins as well as telangiectasia and fibrosis. In addition, there were cystically dilated ducts containing inspissated bile and extensive von Meyenburg complexes. This case raises interesting questions about the possible relationship of these genes and their gene products, both of which are related to cell-matrix interactions and are strongly associated with blood vessels, one of them being expressed on endothelial cells and the other being developmentally important in blood vessels. ( info) |
4312/4526. Anal duct/gland cyst: report of a case and review of the literature. PURPOSE: The purpose of this communication is to report a case of anal duct/gland cyst and review cases of perianal and presacrococcygeal mucus-secreting cysts reported in the literature with emphasis on their histopathologic features. METHOD: Our patient presented with coccydynia. An extraluminal retrorectal tumor was felt on rectal examination. A computerized tomographic scan demonstrated a presacrococcygeal mass closely related to the anorectal junction. The tumor and the coccyx were excised using a posterior approach. Cases of perianal and presacrococcygeal mucus-secreting cysts reported in the literature were reviewed. RESULTS: In our case, the tumor proved to be an anal duct/gland cyst. Some of the reported cases of presacrococcygeal glandular cysts had histopathologic features suggestive of anal duct/gland origin. CONCLUSION: diagnosis of anal duct/gland cyst is based on routine histologic features, histochemical characteristics of mucus, and/or the presence of a communication with an anal duct or crypt. Based on these criteria, some of the reported cases of mucus-secreting cysts occurring around the anorectum may prove to be anal duct/gland in origin. ( info) |
4313/4526. Cystic dysplasia of the testis associated with multicystic dysplasia of the kidney. A child with cystic dysplasia of the testis (CDT) that presented as a solid mass by ultrasound imaging is reported. The child also had ipsilateral multicystic dysplasia of the kidney (MCDK). A search of the literature revealed that unilateral renal agenesis (URA) is commonly associated with CDT. It is possible that CDT, MCDK, and URA share a common pathogenesis. Cystic changes in the epididymis were found in the patient and might be more frequently associated with CDT than previously reported. CDT should be considered in the differential diagnosis of a solid testicular mass detected by ultrasound. ( info) |
4314/4526. adenocarcinoma arising in colonic duplication cysts with calcification: CT findings of two cases. We report the computed tomographic findings of mucinous adenocarcinoma with calcification arising from duplication cyst of the colon in two adult cases. In both cases, serum levels of carcinoembryonic antigen (CEA) were high. Differential diagnosis of intraperitoneal or retroperitoneal cystic tumors with mucinous density includes duplication cyst, and its malignant change should be considered when serum level of CEA is high. ( info) |
4315/4526. Neurosarcoidosis presenting as hypopituitarism and a cystic pituitary mass. We report a young woman with clinical hypopituitarism and systemic sarcoidosis involving the lung, gastrointestinal tract, and peripheral lymph nodes. Laboratory evaluation confirmed that cortisol, thyroid indices, insulin-like growth factor 1, follicle-stimulating hormone, luteinizing hormone, and estradiol levels were low, with a normal prolactin. magnetic resonance imaging revealed a large cystic pituitary lesion compressing the optic chiasm and exhibiting rim but not hypothalamic enhancement. The differential diagnosis included cystic macroadenoma, Rathke's cleft cyst, craniopharyngioma, and simple cyst. A transsphenoidal procedure provided decompression and diagnosis: pathology was consistent with sarcoidosis. Postoperatively, the patient's neurosarcoid disease markedly worsened, requiring hypothalamic irradiation. To our knowledge, this is the first report of intracranial sarcoidosis presenting solely as a cystic pituitary mass. An awareness of this possibility is important to prevent inappropriate neurosurgical intervention and subsequent potential exacerbation of neurosarcoidosis. ( info) |
| Two female infants with callosal agenesis, infantile spasms, chorioretinal lacunae, optic disc colobomas and cortical heterotopias were diagnosed with aicardi syndrome. A choroid plexus papilloma was found in one patient, and choroid plexus cysts were found in the other. choroid plexus lesions are common findings in the aicardi syndrome and are discussed in this paper. ( info) |
| A choroid plexus papilloma of the lateral ventricle presenting in early infancy and producing symptoms purely by secretion of cerebrospinal fluid with formation of a large cyst is presented. Initial conservative management by cyst-peritoneal shunt was followed by late recurrence of symptoms due to reformation of the cyst when the shunt blocked. Excision of the tumour afforded definitive relief. ( info) |
4318/4526. A large adrenal pseudocyst mimicking malignant intraabdominal tumor: a case report. An abdominal mass was found in an apparently healthy 66-year-old man during he was undergoing a routine physical check-up. Intravenous pyelography showed a huge suprarenal cyst displacing the left kidney. Both kidneys had normal renal function. The tumor was removed transperitoneally. It contained 1600 ml hemorrhagic fluid and had small golden nodules on the inner cystic surface. Microscopically, adrenal cortical tissue was present in groups or scattered along the cystic wall, which was compatible with the diagnosis of pseudocyst. No lining epithelium was present. The differential diagnosis, pathogenesis, management, and the general features of adrenal pseudocysts were discussed. ( info) |
4319/4526. Traumatic avulsion of the ureter with obstruction, pseudocyst formation and hypertension. A further case of traumatic avulsion of the upper ureter is described; it was complicated by hypertension and treated by removal of the pseudocyst. Delay in diagnosis should not be a contraindication to reconstructive surgery which should always be attempted if the kidney is functioning. The possibility of renal artery ischaemia should be considered when hypertension develops in the presence of a pseduocyst. ( info) |
4320/4526. Cystic schwannoma of the orbit. Cystic schwannoma of the orbit is unreported in the world literature. A 54-year-old Caucasian man presented to our clinic with a 5 year history of progressive right-sided proptosis and diplopia. A large paramedian cystic mass displacing the right globe downwards and laterally was demonstrated. From the clinical and radiological features, the presumptive diagnosis of right frontal sinus mucocoele was made. However, the excisional biopsy of the lesion revealed the rare diagnosis of cystic schwannoma, arising from a branch of the first division of the trigeminal nerve. Post-operatively, the patient had a smooth recovery with visual acuity of 20/20 in each eye; full binocular single vision was also re-established. The differential diagnoses of cystic orbital mass, and the radiological and histological findings of the lesion, are described and discussed. ( info) |