Search

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., (© 2014 John Wiley & Sons, Ltd.)

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.

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.

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.

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.

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.

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.

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.

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.