Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 1-month-old male infant with tuberous sclerosis presented with leukocoria for an evaluation of possible retinoblastoma. The patient had several Ash leaf spots and multiple subependymal lesions on computed tomography and magnetic resonance imaging. He was found to have a large intraocular tumor in the left eye. B-scan ultrasonography of the mass did not show any calcifications. Given the size of the tumor, poor visual prognosis, and a small possibility of a retinoblastoma, the enucleation of the eye was performed. The mass revealed a retinal giant cell astrocytoma mainly composed of two cell types-giant, round cells and spindle-shaped cells-with associated aggregates of mononuclear inflammatory cells. Immunohistochemical stains were positive for neuron-specific enolase, glial fibrillary acidic protein, and S-100 protein in both cell types. CD3 and CD68 staining were positive in the mononuclear inflammatory cells. Unlike previously reported cases of giant cell astrocytic hamartomas, the current case did not reveal calcifications or substantial inflammations.
J Pediatr Ophthalmol Strabismus 2009 Nov 02
PMID:Giant Cell Astrocytoma of the Retina in a 1-Month-Old Infant. 1987 50