Purpose The presence of CNS abnormalities on MR images in a large group of consecutive patients with retinoblastoma (RTB) is evaluated. Mental retardation and congenital brain anomalies are reported in patients with RTB, mostly in combination with 13q deletion syndrome. Pineoblastoma (PNB) is the most important and “life threatening” condition associated with hereditary RTB, but recent studies suggest an association with pineal cysts. This association is important because some PNB mimic pineal cysts Methods CNS MR images of 320 consecutive patients with RTB from 2000 to 2010 were evaluated by neuroradiologists 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 42 (48.2%) of 87 patients. Nine patients had 13q deletion syndrome. Normal findings on brain MR images were seen in 305 (95.3%) patients. One PNB was detected in a patient with hereditary RTB and 2 arachnoid cysts in 2 sporadic unilateral RTB patients; one cerebral and corpus callosum atrophy and 3 pineal cysts were also detected (2 non hereditary, 1 in 13q deletion syndrome). Corpus callosum agenesis was found in 3 patients (two in 13q deletion syndrome, 1 in hereditary RTB) and corpus callosum hypoplasia in 6 patients (2 twins, 4 sporadic RTB, 1 familial RTB). Chiari I syndrome was found in two cases Conclusion PNB is associated with hereditary RTB, and structural brain abnormalities are associated not only with 13q deletion syndrome. Pineal cysts can be detected in patients with sporadic RTB and/or with 13q deletion syndrome.

Hadjistilianou, T., DE FRANCESCO, S., Renieri, A., Mencarelli, M.A., Marozza, A., DE LUCA, M., et al. (2011). CNS abnormalities in retinoblastoma patients. ACTA OPHTHALMOLOGICA, 89(s248), 0-0 [10.1111/j.1755-3768.2011.4366.x].

CNS abnormalities in retinoblastoma patients

HADJISTILIANOU, THEODORA;RENIERI, ALESSANDRA;DE LUCA, MARIACARLA;MENICACCI, CRISTINA;
2011

Abstract

Purpose The presence of CNS abnormalities on MR images in a large group of consecutive patients with retinoblastoma (RTB) is evaluated. Mental retardation and congenital brain anomalies are reported in patients with RTB, mostly in combination with 13q deletion syndrome. Pineoblastoma (PNB) is the most important and “life threatening” condition associated with hereditary RTB, but recent studies suggest an association with pineal cysts. This association is important because some PNB mimic pineal cysts Methods CNS MR images of 320 consecutive patients with RTB from 2000 to 2010 were evaluated by neuroradiologists 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 42 (48.2%) of 87 patients. Nine patients had 13q deletion syndrome. Normal findings on brain MR images were seen in 305 (95.3%) patients. One PNB was detected in a patient with hereditary RTB and 2 arachnoid cysts in 2 sporadic unilateral RTB patients; one cerebral and corpus callosum atrophy and 3 pineal cysts were also detected (2 non hereditary, 1 in 13q deletion syndrome). Corpus callosum agenesis was found in 3 patients (two in 13q deletion syndrome, 1 in hereditary RTB) and corpus callosum hypoplasia in 6 patients (2 twins, 4 sporadic RTB, 1 familial RTB). Chiari I syndrome was found in two cases Conclusion PNB is associated with hereditary RTB, and structural brain abnormalities are associated not only with 13q deletion syndrome. Pineal cysts can be detected in patients with sporadic RTB and/or with 13q deletion syndrome.
Hadjistilianou, T., DE FRANCESCO, S., Renieri, A., Mencarelli, M.A., Marozza, A., DE LUCA, M., et al. (2011). CNS abnormalities in retinoblastoma patients. ACTA OPHTHALMOLOGICA, 89(s248), 0-0 [10.1111/j.1755-3768.2011.4366.x].
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/524808