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Central nervous system abnormalities in retinoblastoma patients
Author(s) -
DE FRANCESCO S,
DE LUCA M,
GALLUZZI P,
HADJISTILIANOU T
Publication year - 2014
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2014.s099.x
Subject(s) - corpus callosum , agenesis of the corpus callosum , medicine , pathology , retinoblastoma , epilepsy , biology , psychiatry , gene , biochemistry
Purpose Presence of CNS abnormalities on MR images in a large group of 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. Pinealoblastoma 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 pinealoblastomas mimic pineal cysts. Methods CNS MR images of 420 consecutive patients with rtb from 2000 to 2014 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 del syndrome. Results Patients with bilateral and unilateral proved RB1‐germline mutation were 42 (48.2%) out of 87 hereditary cases. 9 patients had 13q deletion syndrome. Normal findings on brain MR images were seen in 307 out of 420 patients. 1 pinealoblastoma was detected in a patient with hereditary rtb, one arachnoid cyst in a sporadic unilateral RTB girl, 1 cerebral and corpus callosum atrophy and 3 pineal cysts were detected (2 non hereditary, 1 in 13q deletion syndrome). Corpus callosum agenesis was found in 3 patients (2 13q deletion syndrome, 1 hereditary RTB), corpus callosum hypoplasia in 3 patients (2 twins, 1 sporadic RTB), both in combination with 13q deletion syndrome. Conclusion Pinealoblastoma is associated with hereditary retinoblastoma, and structural brain abnormalities are associated not only with 13q deletion syndrome patients. Pineal cysts can be detected in patients with sporadic rtb and/or with 13q deletion syndrome.