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

An 8-month-old girl underwent enucleation of her right eye because of a calcified retrolental white mass filling the entire vitreous cavity. The conventional histological examination revealed a totally necrotic unidentifiable tumor, with scattered foci of calcification. In addition, we found two islands of viable small round cells, suspected to be retinoblastoma cells, which were located in the optic nerve behind the lamina cribrosa. These cells stained positively for neuron-specific enolase (NSE), but not for glial-fibrillary-acidic-protein (GFAP), supporting the diagnosis of retinoblastoma. Because one of the latter foci of viable tumor cells was located at the cut end of the optic nerve, the baby was treated by external beam irradiation.
J Pediatr Ophthalmol Strabismus
PMID:Immunohistochemical diagnosis of a totally necrotic retinoblastoma: a clinicopathologic case. 245 19

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

A 6-year-old intact female Pointer dog was presented for evaluation of acute onset of ataxia, circling, and head tilt. Neurologic assessment revealed overall decreased postural reaction, left-sided hemiparesis with incoordination, rigidity of fore- and hindlimbs, strabismus of the right eye, and bilateral horizontal nystagmus. Using magnetic resonance imaging, a mass lesion was identified in the cerebrum adjacent to the left side of the cerebellum compressing the brain stem ventrally. The mass was incompletely resected, and during surgery fine-needle aspiration and biopsy of the mass were performed. Cytologically, smears were highly cellular and contained predominantly small to medium-sized discrete round cells with high nuclear to cytoplasmic ratios and round nuclei with rare deep clefts or indentation, smooth chromatin, and indistinct nucleoli. Numerous cytoplasmic fragments were noted in the background. The primary diagnosis was lymphoma; other differential diagnoses included neuroendocrine tumor and poorly differentiated tumor of neural origin. The histologic diagnosis was lymphoma, and the lesion was presumed to be metastatic. On immunohistochemical analysis, the cells expressed neither CD3 nor CD79a. Re-examination of the histologic section revealed disorganized sheets of cells with multifocal palisading and perivascular arrangements of rosette-like structures. An expanded panel of antibodies to vimentin, cytokeratin, glial fibrillary acid protein (GFAP), neuron-specific enolase (NSE), synaptophysin (SYN), S-100, and CD45 was applied to histologic sections. Neoplastic cells were immunoreactive for vimentin, NSE, and S-100. Based on the histologic appearance and immunophenotype of the tumor, a diagnosis of primitive neuroectodermal tumor (PNET) was made. PNET, although rare in dogs, should be considered as a differential diagnosis for round cell tumors in the brain.
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PMID:Cytologic and immunohistochemical characterization of a primitive neuroectodermal tumor in the brain of a dog. 2232 Jan 85