J Pediatr Neurol 2006; 04(04): 265-270
DOI: 10.1055/s-0035-1557344
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Retinoblastoma associated with congenital hypotonia: A case report and review of the literature

Peter E. Zage
a  Division of Hematology/Oncology, Department of Pediatrics, Children’s Memorial Hospital, Chicago, IL, USA
,
Monisha Chopra
a  Division of Hematology/Oncology, Department of Pediatrics, Children’s Memorial Hospital, Chicago, IL, USA
,
Wes McRae
b  Division of Pediatric Neurology, Department of Pediatrics, Children’s Memorial Hospital, Chicago, IL, USA
,
Stewart Goldman
a  Division of Hematology/Oncology, Department of Pediatrics, Children’s Memorial Hospital, Chicago, IL, USA
› Institutsangaben

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Publikationsverlauf

30. September 2005

03. März 2006

Publikationsdatum:
30. Juli 2015 (online)

Abstract

Retinoblastoma is the most common intraocular tumor of childhood and can be either unilateral or bilateral and either hereditary or non-hereditary. Retinoblastoma is associated with mutations of the Rb gene on chromosome 13q, and chromosome 13q deletions and translocations in association with retinoblastoma have been described. Retinoblastoma can be associated with developmental delay, growth retardation, and congenital malformations. The authors describe a child with congenital hypotonia who developed retinoblastoma and was found to have a t(X;13) chromosomal translocation. The occurrence of hypotonia in association with retinoblastoma suggests an etiological link between the two disorders.