Benign pineal cysts in children with bilateral retinoblastoma: a new variant of trilateral retinoblastoma?

PURPOSE: Patients with hereditary retinoblastoma (Rb) develop in 4%-8% a malignant midline tumor called trilateral Rb (TRb). We report in this study on benign pineal cysts observed in patients investigated for TRb. PATIENTS AND METHODS: Between September 1990 and December 2001, 172 patients were screened for TRb. Ninty-five had bilateral, 77 unilateral disease. The median age at diagnosis of Rb was 7 months (range 1-26). Treatment included enucleation, local treatment with cryotherapy or photocoagulation, first-line chemotherapy (CT), thermo-chemotherapy (TCT), Ruthenium plaque, and, rarely, external beam radiation (EBR). RESULTS: TRb was found in 5/95 patients (5.3%) with bilateral disease. Interestingly, five other patients (5.3%) presented a pineal cyst on magnetic resonance imaging (MRI). No cysts were recorded in the 77 patients with unilateral disease. This difference was statistically significant (P < 0.05). The median age at diagnosis of the pineal cyst was 26 months (range 16-80), much younger than reported in literature for healthy children. Four of five patients with TRb died of the disease, while all the patients with pineal cysts remained stable and asymptomatic during a median follow-up of 41 months (range 37-54). CONCLUSIONS: This report describes benign cystic lesions of the pineal gland in patients with hereditary Rb, suggesting a benign variant of TRb. Underlying possible pathogenetic mechanisms are discussed.

Quelle attitude lors de la découverte de kystes rénaux [Diagnosis of renal cysts].

Evaluation and management of renal cysts Renal cystic diseases are a heterogeneous group of conditions including heritable, developmental, and acquired disorders. They are united by the presence of microscopic or giant fluid-filled cavities and affect both children and adults. The definitive diagnosis of many of the renal cystic diseases requires clinical, radiological, pathological, and genetic analysis. A precise diagnosis is essential for prognosis, treatment, and future genetic counselling.

Epidermoid cysts of the velum interpositum.

The cistern of the velum interpositum is a space located between the corpus callosum dorsally and the roof of the third ventricle ventrally. Lesions located within the velum interpositum are rare and include meningiomas, pilocytic astrocytomas, atypical teratoid/rhabdoid tumors and arachnoid cysts. Epidermoid cysts in this location have not been reported previously. We report the clinical and radiological features of two patients with epidermoid cysts located in the velum interpositum. The patients presented with gait difficulty and features of raised intracranial pressure and magnetic resonance imaging demonstrated large tumors in the velum interpositum with intensities suggestive of epidermoid cysts. There was ventral displacement of the internal cerebral veins and dorsal displacement of the corpus callosum in keeping with a mass in the velum interpositum. Tumors of the third ventricle displace the internal cerebral veins dorsally. A transcallosal approach was used in both patients to effectively excise the tumors.

Cavernomas and brain cysts as treatment-related sequelae in survivors of pediatric brain tumors

Cavernomas after radiotherapy, developing in irradiated children treated for malignant brain tumors, are capillary malformations that are frquently asymptomatic and benign in their evolution. However, in some children this can lead to haemorrhage, which can cause symptoms and need a surgical intervention. Although there is increasing evidence of cavernoma as a possible long term sequelae after radiotherapy, there is still information needed concerning very long follow-up. Different groups studied this problem focusing on incidence and the lag time radiotherapy and the appearance of cavernomas. Results showed that the period can last a long time and the cumulative incidence increases over the years, but the numbers vary between the different publications. More recently researchers tried to compare several predictive factors with the incidence of cavernomas, such as age at radiotherapy, gender, kind of cancer and chemotherapy. No relation has been recorded except a growing incidence when the radiotherapy was started before the age of ten. Reason of the study : The observations reported until now comprised a very heterogenous cohort of patients. No study has ever been made with patients affected only by malignant brain tumors which are typical in a children. As for the studied predictive factors, no publication described the technical aspect of radiotherapy. Objectives: To study a population of pediatric patients children with only malignant brain tumors in order tp calculate the incidence of cavernomas after radiotherapy and their evolution over a longer period compared to so far published researches. To analyse known predictive factors such as age of children at the moment of the radiotherapy, gender, and kind of cancer. To study extensively the role technical aspects of radiotherapy in the occurrence of cavernomas. Methodology: Retrospective study of a group of 62 children irradiated at the CHUV (Lausanne, Switzerland) between 1975 and 2010 due to the following malignant brain cancers: medulloblastoma, ependymoma, PNET. The images of IRM post radiotherapy will be analysed by a neuroradiologist and a radiotherapist will interpret the radiotherapy data. Expected results: We expect to find relations between the incidence of cavernomas post radiotherapy and the predictive factors including different techniques of radiotherapy and consequently to define the best long-term follow up of the children at risk.

Colloid cysts of the third ventricle: correlation of MR and CT findings with histology and chemical analysis.

Eight patients with colloid cysts of the third ventricle were examined with CT and MR. In six, surgical resection was performed and the material was subjected to histologic evaluation; the concentrations of trace elements were determined by particle-induced X-ray emission. Stereotaxic aspiration was performed in two. The investigation showed that colloid cysts are often iso- or hypodense relative to brain on CT (5/8), but sometimes have a center of increased density. Increased density did not correlate with increased concentration of calcium or other metals but did not correlate with high cholesterol content. Colloid cysts appear more heterogeneous on MR (6/8) than on CT (3/8), despite a homogeneous appearance at histology. High signal on short TR/TE sequences is correlated with a high cholesterol content. A marked shortening of the T2 relaxation time is often noticed in the central part of the cyst. Analysis of trace elements showed that this phenomenon is not related to the presence of metals with paramagnetic effects. Our analysis of the contents of colloid cysts does not support the theory that differing metallic concentrations are responsible for differences in MR signal intensity or CT density. We did find that increased CT density and high MR signal correlated with high cholesterol content.

Copeptin is associated with kidney length, renal function, and prevalence of simple cysts in a population-based study.

Arginine vasopressin (AVP) has a key role in osmoregulation by facilitating water transport in the collecting duct. Recent evidence suggests that AVP may have additional effects on renal function and favor cyst growth in polycystic kidney disease. Whether AVP also affects kidney structure in the general population is unknown. We analyzed the association of copeptin, an established surrogate for AVP, with parameters of renal function and morphology in a multicentric population-based cohort. Participants from families of European ancestry were randomly selected in three Swiss cities. We used linear multilevel regression analysis to explore the association of copeptin with renal function parameters as well as kidney length and the presence of simple renal cysts assessed by ultrasound examination. Copeptin levels were log-transformed. The 529 women and 481 men had median copeptin levels of 3.0 and 5.2 pmol/L, respectively (P<0.001). In multivariable analyses, the copeptin level was associated inversely with eGFR (β=-2.1; 95% confidence interval [95% CI], -3.3 to -0.8; P=0.002) and kidney length (β=-1.2; 95% CI, -1.9 to -0.4; P=0.003) but positively with 24-hour urinary albumin excretion (β=0.11; 95% CI, 0.01 to 0.20; P=0.03) and urine osmolality (β=0.08; 95% CI, 0.05 to 0.10; P<0.001). A positive association was found between the copeptin level and the presence of renal cysts (odds ratio, 1.6; 95% CI, 1.1 to 2.4; P=0.02). These results suggest that AVP has a pleiotropic role in renal function and may favor the development of simple renal cysts.

Different locations of dermoid cysts in the orbital region.

BACKGROUND: Dermoid cysts are frequent unilateral congenital benign tumors that can be found at different locations throughout the body. In the orbital region, dermoid cysts occur predominantly in the supero-temporal quadrant. However, different orbital locations are possible, making this entity an important differential diagnosis for orbital tumors. PATIENTS AND METHODS: We retrospectively reviewed the charts of 23 consecutive patients operated in our institution between 2005 and 2014 for orbital tumors that were diagnosed as congenital dermoid or epidermoid cysts. RESULTS: There were 21 dermoid and 2 epidermoid cysts. The median age at surgery time was 7 years (range 1-41). There were 15 females and 8 males. Eleven cysts were located supero-temporally (47.8%), seven supero-medially (30.4%), two temporally (8.7%), one at the frontal bone (4.4%) and two in the fossa of the lacrimal gland (8.7%). The mean cyst diameter was 13.1 mm±5.0 (SD). None had signs of malignant disease. No recurrence was observed after complete excision. CONCLUSION: Dermoid cysts of orbital region are mostly located in the supero-temporal quadrant. However, other orbital locations are possible and dermoid cysts must thus be considered in the differential diagnosis of any mass in the orbital region.

Bicc1 links the regulation of cAMP signaling in polycystic kidneys to microRNA-induced gene silencing.

Genetic defects in autosomal-dominant polycystic kidney disease (ADPKD) promote cystic growth of renal tubules, at least in part by stimulating the accumulation of cAMP. How renal cAMP levels are regulated is incompletely understood. We show that cAMP and the expression of its synthetic enzyme adenylate cyclase-6 (AC6) are up-regulated in cystic kidneys of Bicc1(-)(/-) knockout mice. Bicc1, a protein comprising three K homology (KH) domains and a sterile alpha motif (SAM), is expressed in proximal tubules. The KH domains independently bind AC6 mRNA and recruit the miR-125a from Dicer, whereas the SAM domain enables silencing by Argonaute and TNRC6A/GW182. Bicc1 similarly induces silencing of the protein kinase inhibitor PKIα by miR-27a. Thus, Bicc1 is needed on these target mRNAs for silencing by specific miRNAs. The repression of AC6 by Bicc1 might explain why cysts in ADPKD patients preferentially arise from distal tubules.

Multiple nodules of the scrotum: histopathological findings and surgical procedure. A study of five cases.

BACKGROUND: Multiple nodules of the scrotum are uncommonly reported. Their origin is controversial. Treatment is always surgical but the best procedure is still to be determined. MATERIALS AND METHODS: Five new cases are reported with description of the histopathological findings and surgical procedure. RESULTS: Nodules of the scrotum were more frequent in patients with dark skin suggesting an ethnic susceptibility. No other predisposing factors were noted. Screening for disturbances of phosphate or calcium balance was negative. The following histopathological findings were observed: non-calcified epidermoid cysts (3 patients), calcified epidermoid cysts (1 patient) and nodular calcifications without epithelial or glandular structures (1 patient). Subtotal excisions of the scrotum wall using tumescent anaesthesia were performed in all patients without any significant complications. Cosmetic results were excellent. No new lesions were observed during the 1-year follow-up period. CONCLUSIONS: Most cases of multiple nodules of the scrotum are due to non-calcified epidermoid cysts. The term scrotal calcinosis is therefore probably abusively used by many authors. Some cases of nodular calcifications may be due to dystrophic calcification of epidermoid cysts, but calcifications may also occur without any visible epithelial or glandular structure. Subtotal excision of the scrotum wall is a safe and effective surgical procedure to treat multiple nodules of the scrotum. Cosmetic results are excellent and recurrences are rare.

Absence of mTOR Inhibitor Effect on Hepatic Cyst Growth: A Case Report of a Kidney Transplant Recipient with Autosomal Dominant Polycystic Kidney Disease.

Some experimental studies have suggested a beneficial effect of the mammalian target of rapamycin (mTOR) inhibitor use on hepatic and renal cyst growth in patients with autosomal dominant polycystic kidney disease (ADPKD). However, the results of clinical studies are conflicting and the role of mTOR inhibitors is still uncertain. We report the case of a patient with ADPKD who underwent deceased kidney transplantation because of an end-stage renal disease. The evolution was uneventful with an excellent graft function under cyclosporine (CsA) monotherapy. Some years later, the patient developed a symptomatic hepatomegaly due to growth of cysts. CsA was replaced by sirolimus, an mTOR inhibitor, in order to reduce or control the increase in the cyst and liver volume. Despite the switch, the hepatic volume increased by 25% in two years. Finally sirolimus was stopped because of the lack of effect on hepatic cyst growth and the presence of sirolimus side effects. The interest of our case resides in the followup by MRI imaging during the mTOR inhibitor treatment and 15 months after the restart of the initial immunosuppressive therapy. This observation indicates that mTOR inhibitors did not have significant effect on cyst-associated hepatic growth in our patient, which is consistent with some results of recent large clinical studies.

Obstructive neonatal respiratory distress: infected pyriform sinus cyst.

Infected lateral cervical cysts in newborn are rare. We present the case of a baby born at 41 weeks of gestation. At day 3, persistent cyanosis was noted, and a mass appeared in the left cervical region next to the sternocleidomastoid muscle. No cutaneous sinus was visible. Ultrasound imaging showed no sign of blood flow within the mass and no septae. The mass extended down to the aortic arch and pushed the trachea to the right. A cervical lymphangioma was first suspected. Puncture of the mass evacuated 80 mL of pus, and a drain was put in place. Opacification through the drain showed a tract originating from the left pyriform fossa. Preoperative laryngoscopy and catheterization of the fistula tract confirmed the diagnosis. The cyst was totally excised up to the sinus with the assistance of a guidewire inserted orally through a rigid laryngoscope. This is a rare case of an infected pyriform sinus cyst in the neonatal period.