Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI.

OBJECTIVE: This study aimed to describe tumour identification on magnetic resonance imaging (MRI) in a 35-week fetus with familial retinoblastoma (RB) and report the use of prenatal ultrasound (US) and MRI screening in the management of fetuses at high risk of RB. METHOD: This is a retrospective review of the prenatal course and immediate postnatal findings in all children considered at high risk of RB who had prenatal imaging with both US and MRI at our institution over a 5-year period. RESULTS: Five patients met the inclusion criteria. No lesions were identified on US in any patients. Fetal MRI identified bilateral posterior pole lesions in one patient at 35 weeks' gestation. Of the four remaining patients, three developed lesions by 5 weeks of age. Only one fetus was delivered early following detection of RB. CONCLUSION: We present the first reported case of RB detected in a high-risk fetus on screening MRI at 35 weeks' gestation. A protocol for screening this population using both imaging modalities is presented.

Common pediatric head and neck congenital/developmental anomalies.

Pediatric head and neck neuroradiology is a broad and complex topic. This article focuses on several of the common and sometimes challenging pediatric head and neck congenital/developmental anomalies physicians may encounter in clinical practice. Although some diagnoses may be evident on physical examination, others may present a diagnostic dilemma. Patients may initially present with a variety of secondary findings. Imaging serves an important role in making a diagnosis, guiding referral, and in some cases even providing treatment options through interventional radiology. Key diagnostic criteria and critical points of interest for each diagnosis are presented.

Progress in screening and treatment of common congenital eye diseases.

Congenital eye illnesses are caused by congenital ocular malformations and are a primary cause of poor visual acuity and blindness in infants. Early diagnosis and treatment of congenital eye illnesses are of great significance for affected infants, their families, and even society as a whole. This study describes the current situation for prenatal and infant screening for congenital eye diseases and briefly summarizes novel progress in the treatment of the five most common eye diseases (congenital dacryocystitis, congenital cataract, retinopathy of prematurity, congenital glaucoma and retinoblastoma). Current programs are now aimed at improvements in the prevention and treatment of congenital eye diseases in China.

Brain abnormalities on MR imaging in patients with retinoblastoma.

BACKGROUND AND PURPOSE: Although pineoblastoma is the main brain abnormality associated with hereditary retinoblastoma, recent studies suggest an association with pineal cysts. This association is important because some pineoblastomas mimic pineal cysts. If there is a relationship, then radiologists should be aware of it because diagnostic confusion is possible. Mental retardation and congenital brain anomalies are also reported in patients with retinoblastoma, mostly in combination with 13q deletion syndrome. In this retrospective study, the presence of brain abnormalities on MR images in a large group of consecutive patients with retinoblastoma is evaluated. MATERIALS AND METHODS: Brain MR images of 168 patients with retinoblastoma from 1989 to 2009 were evaluated by 2 radiologists for tumors, structural anomalies, myelinization, and coincidental findings. Clinical records were reviewed for laterality, heredity, and the presence of the 13q deletion syndrome. RESULTS: The hereditary group (patients with bilateral and unilateral proved RB1-germline mutation) included 90 (54%) of 168 patients. Seven patients had 13q deletion syndrome. Normal findings on brain MR images were seen in 150 (89%) patients. Five pineoblastomas were detected, all in patients with hereditary retinoblastoma (5.5% in the hereditary subgroup). Nine pineal cysts were detected (2.2% in the hereditary subgroup). Corpus callosum agenesis was found in 1 patient and a Dandy-Walker variant in 1 patient, both in combination with 13q deletion syndrome. CONCLUSIONS: Pineoblastoma is associated with hereditary retinoblastoma, and structural brain abnormalities are restricted to patients with the 13q deletion syndrome. The incidence of pineal cysts in patients with retinoblastomas is similar to that in healthy children and is not associated with hereditary retinoblastoma.

Comportamiento del retinoblastoma en el Centro Nacional de Oftalmología del 2002 al 2005 / Behavior of the retinoblastoma in the National Center of Ophthalmology of the 2002 at the 2005

Se realizo un estidio en el Centro Nacional de Oftalmología, con el objetivo de analizar el comportamiento del retinoblastoma, a la vez determinar el abordaje terapeútico, que reciben las pacientes con diagnóstico de retinoblastoma en nuestro centro. El estudio es descriptivo, transversal, su universo estuvo constituido por 22 niños que fueron ingresados al Centro Nacional de Oftalmología en el período comprendido de mayo del 2002 a mayo del 2005, se hizo un estudio de tres años. La muestra fue igual al universo siendo de 22 expedientes de niños diagnosticados de retinoblastoma y que fueron ingresados en el período en estudio. Entre mayo dle 2003 y mayo 2004 se presentó más retinoblastoma, la mayoría del área rural, no hubo predilección por sexo, la edad más frecuente fue entre los 12 a 24 meses 54.4 porciento y más frecuente la forma unilateral. Del total de pacientes se confirmó el diagnóstico en 19 casos 86.4 porciento se encontró diagnóstico diferente en tres casos 13.6 porciento. El signo mas precoz fue la leucocoria con un 68 porciento y el estrabismo con 13 porciento el 63.6 porciento se presentaron en estadio V de Reese. Dentro de los estudios de imagenología fueron los más frecuentes el ultrasonido 54 porciento, en los cuales se encontraron datos de calcificación en un 86.4 porciento. La enucleación y la exanteración en la forma más frecuente de tratamiento. Orienta que deben de realizarse campañas de educación a la población sobre el primer signo clínico de presentación de Retinoblastoma (leucocoria) para lograr que lleguen a estadios mas tempranos y no se tengan que recurrir a procedimientos cruentos, así como capacitar al personal médico y de enfermería de la atención primaria para la detección precoz de los signos mas frecuentes

Bone marrow transplantation for therapy-related acute myeloid leukemia in congenital retinoblastoma associated with 13q deletion syndrome.

Children with constitutional deletion of the long arm of chromosome 13 are at risk for retinoblastoma (RB) due to loss of the RB tumor suppressor gene. The prognosis is poor since the tumors are often bilateral, aggressive, and recurrent and the patients often harbor other congenital abnormalities. One further complication is that of therapy-related malignancies later in life. We report a case of allogeneic stem cell transplantation for therapy-related acute myeloid leukemia in an 8-year-old girl after multimodality treatment for refractory bilateral relapsing RB, with excellent outcome in both the ophthalmic and marrow disease.

[Clinical informative value of new methods of ultrasonic examination in the differential diagnosis of various forms of congenital diseases of the eyes in children]. / Klinicheskaia informativnost' novykh metodov ul'trazvukovogo issledovaniia v differentsial'noi diagnostike razlichnykh form vrozhdennoi patologii glaz u detei.

Clinical informative value of computer echography for the differential diagnosis of severe intrauterine uveitis (68 children, 96 eyes), retinopathy neonatorum (37 children, 74 eyes), Coats' retinitis (35 children, 35 eyes), and retinoblastoma (17 children, 26 eyes) was studied in a group of 157 children (231 eyes) with opaque refracting media. Ultrasonic diagnostic equipment with a high level of computer support essentially improved the resolving capacity of echography and detected accessory acoustic signs of some congenital ocular diseases.

Parental age in Indian patients with sporadic hereditary retinoblastoma.

There is a consistent correlation between sporadic hereditary retinoblastoma and parental age. It has been proven beyond doubt that the birth rank is correlated with parental age. In the present study, a test for the effect of birth rank was performed in order to assess the risk of developing retinoblastoma with increased parental age. The study of the effect of birth rank showed a significant association between sporadic retinoblastoma (bilateral and unilateral) and late para, indicating that fresh germline mutations must have taken place in some of the sporadic cases. An investigation of the effect of birth rank on familial cases, obtained from published papers and our own series, showed that familial retinoblastoma is significantly associated with early para, suggesting early parental age. Further analysis of the mean paternal and maternal ages of sporadic cases (bilateral and unilateral) showed that the mean paternal age of sporadic bilateral (sporadic hereditary) cases was higher than that of sporadic unilateral cases (p<0.05). No such correlation was seen with mean maternal age. Thus, the present study shows that a high paternal age may be associated with sporadic bilateral (sporadic hereditary) retinoblastoma.

Retinoblastoma as a congenital primary intracranial tumor.

This report describes a rare case of retinoblastoma presenting as a congenital primary intracranial tumor. A 7-day-old infant presented with generalized seizures. He had a family history of retinoblastoma. Computed tomography of the brain revealed a midline suprasellar tumor without evidence of retinal tumors. Subtotal resection of the tumor was performed. Histopathologic findings were diagnostic of retinoblastoma. The patient sustained profound ischemic brain damage and was not given definitive further therapy. He died days after the diagnosis was made. Retinoblastoma can present as an isolated ectopic intracranial tumor without associated retinal tumors.

Osteosarcoma como segunda neoplasia de retinoblastoma / Osteosarcoma as a second neoplasm in a children with retinoblastoma

Introducción. Es bien conocido que el osteosarcoma se presenta frecuentemente como segunda neoplasia del retinoblastoma congénito, así como otro tipo de carcinomas, melanomas y tumores neuroepiteliales. Todos los pacientes con retinoblastoma bilateral congéntio presentan una alteración del gen RB1 localizado en el cromosoma 13q14. Caso clínico. Se presenta el caso de una paciente con retinoblastoma bilateral congénito diagnosticado a la edad de 1 año 11 meses, quien recibió tratamiento con ciclofosfamida, epirrubicina y VP 16, entre otros agentes; y que desarrolló osteosarcoma peroneo con metástasis pulmonares tras una latencia de 10 años 6 meses. En esta paciente es conocido el uso de alquilantes, antracíclicos y etopósido, así como los antecedentes familiares de cáncer por ambas ramas. Conclusión. El retinoblastoma bilateral conlleva factores de riesgo para el desarrollo de segundas neoplasias. Los antecedentes familiares constituyen razones suficientes para catalogarlo como un síndrome de cáncer familiar, el uso de agentes alquilantes, antraciclicos y etopósidos, aumentan este riesgo acortando el período de latencia

Congenital retinoblastoma: appearance of calcifications during short-term follow-up.

An echographic follow-up of a case of congenital retinoblastoma was performed by monitoring variations in the tumoral echostructure concomitant with the appearance of microcalcifications. A previously unreported echo-graphic aspect regarding the first phase of observation is described. The calcifications in the tumour were evidenced on the 41st day of the patient's life.

A giant congenital orbital tumor: an unusual presentation of retinoblastoma.

We report a case of an unusual giant congenital tumor presenting in a newborn infant as a large exophytic mass emerging from the left orbit. After enucleation orbital recurrence developed within 14 days. No anti-tumor treatment was given and the child died at the age of 4 weeks. The histopathological and cytogenetical analysis of the tumor is presented. The tumor was diagnosed as a retinoblastoma but we could not exclude the possibility of a neuroblastoma.

["Umbrella syndrome," a contribution to pseudoretinoblastoma]. / Das "Umbrella-Syndrom", ein Beitrag zum Pseudoretinoblastom.

In two children referred to the author's clinic because of suspected retinoblastoma, pathologic fibroglial tissue was observed unilaterally in front of the macula and optic disk. Fluorescein angiography and ultrasonography indicated a posterior PHPV. In view of the morphological appearance the condition was termed "umbrella syndrome". There were no therapeutic consequences.

Congenital retinoblastoma: a case report.

Retinoblastoma is usually diagnosed during the first three years of life, with an average age of diagnosis of 18 months. It is almost never found at birth except when there is a positive family history which prompts an early fundus examination. We report a case of unilateral nonfamilial retinoblastoma which was so advanced at birth that it had already produced a perforated globe. Despite enucleation, radiation, and chemotherapy, massive orbital recurrence developed which necessitated a modified orbital exenteration. In spite of this aggressive therapy the child died of metastatic retinoblastoma at age eight months.