Affiliations: Division of Hematology/Oncology, Department of
Pediatrics, Children's Memorial Hospital, Chicago, IL, USA | Division of Pediatric Neurology, Department of
Pediatrics, Children's Memorial Hospital, Chicago, IL, USA
Note: [] Correspondence: Stewart Goldman, MD, Division of
Hematology/Oncology, Children's Memorial Hospital, 2300 Children's Plaza, Box
#30, Chicago, IL 60614, USA. Tel.: +1 773 880 4562; Fax: +1 773 880 3223;
E-mail: [email protected]
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.
