RESUMO
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.
Assuntos
Neoplasias Encefálicas/patologia , Imageamento por Ressonância Magnética , Glândula Pineal/patologia , Pinealoma/patologia , Neoplasias da Retina/patologia , Retinoblastoma/patologia , Síndrome de Aicardi/genética , Síndrome de Aicardi/patologia , Encéfalo/anormalidades , Neoplasias Encefálicas/congênito , Neoplasias Encefálicas/genética , Pré-Escolar , Deleção Cromossômica , Transtornos Cromossômicos/patologia , Cromossomos Humanos Par 13 , Síndrome de Dandy-Walker/genética , Síndrome de Dandy-Walker/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pinealoma/congênito , Pinealoma/genética , Neoplasias da Retina/congênito , Neoplasias da Retina/genética , Retinoblastoma/congênito , Retinoblastoma/genéticaRESUMO
OBJECTIVE: Teratoma is the most frequently encountered intracranial tumor at birth and constitutes 18-20% of all germ cell tumors. They are usually located in pineal and suprasellar regions. The authors aim to report an extremely unusual presentation, location, and appearance of a teratoma in a newborn. CASE REPORT: A soft tissue swelling in the vertex was detected in a 1-month-old girl. Neurological examination was normal. A big, cystic-solid lesion beginning from pineal region and extending to the scalp was detected in magnetic resonance imaging. It is interesting to note that cerebral venous angiography showed that the superior sagittal sinus (SSS) was divided into three branches at the level of the lesion and they joined together distally. The tumor was excised totally. Histopathological examination revealed the diagnosis of a mature cystic teratoma. CONCLUSION: A mature cystic teratoma mimicking parietal encephalocele is extremely rare. Germ cell tumors should be kept in mind in the differential diagnosis of all midline lesions with unusual radiographic appearance. Cerebral venous angiography or MR angiography must be performed for the diagnosis and the surgical planning in lesions located near SSS.
Assuntos
Encefalocele/patologia , Lobo Parietal/patologia , Pinealoma/patologia , Teratoma/patologia , Angiografia Cerebral , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Procedimentos Neurocirúrgicos , Pinealoma/congênito , Pinealoma/cirurgia , Teratoma/congênito , Teratoma/cirurgiaRESUMO
The authors report the case of a newborn presenting at birth with macrocephaly and a large pineal region hemorrhagic cyst without neurological deficit. No neurosurgical intervention was performed, and subsequent imaging studies demonstrated complete involution of the cyst.
Assuntos
Cistos do Sistema Nervoso Central/congênito , Hemorragia Cerebral/congênito , Imageamento por Ressonância Magnética , Pinealoma/congênito , Tomografia Computadorizada por Raios X , Cistos do Sistema Nervoso Central/diagnóstico , Angiografia Cerebral , Hemorragia Cerebral/diagnóstico , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Pinealoma/diagnóstico , Remissão EspontâneaRESUMO
A case of pineoblastoma with an interesting cytogenetic abnormality is reported. Chromosomal analysis of cultured cells from the tumor of a 10-week-old white male revealed an interstitial deletion of the long arm of chromosome 11, del(11)(q13.1q13.5). Tumors of the pineal region are relatively rare, and this is the first report of a pineoblastoma with del(11q).
Assuntos
Neoplasias Encefálicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 11 , Pinealoma/genética , Neoplasias Encefálicas/congênito , Neoplasias Encefálicas/patologia , Bandeamento Cromossômico , Humanos , Lactente , Cariotipagem , Masculino , Pinealoma/congênito , Pinealoma/patologiaRESUMO
Transfontanelle, real-time ultrasound (US) examinations were performed in two newborn infants with congenital pineoblastoma. The tumors were hyperechoic relative to the surrounding cerebral tissue. Both were midline lesions that abutted on the posterior portion of the third ventricle, causing obstructive hydrocephalus. The US findings were correlated with CT, pathologic examination, and clinical follow-up study.
