Constance A. Stanton

Topical 5-Fluorouracil in Treating Epithelial Neoplasia of the Conjunctiva and Cornea

PURPOSES To evaluate the efficacy of topical 5-fluorouracil (5-FU) in treating conjunctival and corneal epithelial neoplasia. METHODS Three patients underwent surgical excision of bulky disease followed by topical 1% 5-FU in artificial tear base for 2 to 3 weeks or until epithelial separation occurred. An additional three patients underwent treatment with topical 1% 5-FU alone. RESULTS Minimum follow-up was 6 months. In one patient with conjunctival in situ carcinoma and no detectable normal conjunctiva, who had normal findings on conjunctival histologic examination after application of topical 5-FU, a focus of invasive disease requiring orbital exenteration. One patient had a favorable response to 5-FU therapy but required a repeat excision for control of bulky disease. Four patients have remained disease-free for 10, 13, 18, and 30 months after topical 5-FU therapy. CONCLUSION With its potential selective toxicity on dysplastic epithelium, topical 5-FU shows promise as an adjunctive treatment for managing conjunctival and corneal epithelial neoplasia.

Sudden death in epilepsy due to an isolated subependymal giant cell astrocytoma of the septum pellucidum

We report a case of sudden unexpected death in an individual with epilepsy. Autopsy revealed a subependymal giant cell astrocytoma of the septum pellucidum, but there were no other lesions of tuberous sclerosis. We discuss sudden death in epilepsy, deaths related to primary brain tumors, the pathology of subependymal giant cell astrocytoma, and whether or not such a tumor can exist outside the setting of tuberous sclerosis. We also discuss the implications such findings may have on surviving family members, as well as the important role of the forensic pathologist in such cases.

The human cornea has a high incidence of acquired chromosome abnormalities

Abstract Structurally and functionally, the human cornea is a highly specialized tissue. The corneal stromal collagen matrix is uniquely transparent and yet maintains a mechanically tough and chemically impermeable barrier between the eye and environment. We report for the first time that stromal keratocytes of the human cornea show cytogenetic abnormalities with a frequency that is unprecedented among normal tissues. The abnormalities are acquired, clonal and nonclonal, primarily aneuploid in nature, and present in normal as well as diseased corneas.

Progressive outer retinal necrosis secondary to varicella zoster virus in acquired immune deficiency syndrome.

Background A syndrome consisting of rapidly progressive outer retinitis in patients with suppressed immune systems has been described. The etiologic agent appears to be a member of the herpes virus family. Methods A 41-year-old man with acquired immune deficiency syndrome (AIDS) developed bilateral outer retinitis and choroiditis, which progressed despite antiviral treatment. A transscleral eye wall biopsy specimen and whole globe were submitted for microbiologic and histologic study. Results Polymerase chain reaction of a transscleral eye wall biopsy specimen and of the enucleated specimen determined the etiologic agent to be varicella zoster virus (VZV). Histologic studies demonstrated intranuclear inclusions consistent with viral particles in choroidal cells. Conclusion Our study revealed intranuclear inclusions in choroidal cells, a previously undocumented finding in progressive outer retinal necrosis. Polymerase chain reaction was very useful in identifying the causative agent.

Injectable hydroxyapatite paste as an option for ocular implantation after evisceration.

OBJECTIVE To investigate the feasibility of small incision evisceration with an injectable ocular implant that is biocompatible and preserves globe size. DESIGN Experimental animal study. METHODS The axial length of the eyes of 12 rabbits was determined by ultrasound before surgery. Subsequently, 12 eyes of 12 separate rabbits were eviscerated and injected with hydroxyapatite (HA) paste (BoneSource; Stryker Leibinger, Kalamazoo, MI). Three rabbits each were killed at 2 weeks, 6 weeks, 3 months, and 6 months after evisceration, and measurements of globe size were compared with measurements of the fellow eye. Histologic examination of the eviscerated eyes was performed. MAIN OUTCOME MEASURES The axial length and lateral globe measurements of the eviscerated eye were compared with the fellow eye. The eviscerated eye was examined histologically and the degree of inflammation, vascularization, and ossification was noted for each period of observation. RESULTS The mean preoperative difference in axial length between the control (fellow eyes) and the subsequently eviscerated eyes was 0.15 +/- 0.04 mm (mean +/- standard error of mean). The average axial and lateral globe measurements of the operated eye were 0.8 +/- 0.4 mm less than the fellow eye 2 weeks after surgery, and this difference increased to 3.1 +/- 0.7 mm 6 months after surgery. Histologic examination showed a decrease in granulomatous inflammation and an increase in vascularization of the implanted HA over the time of observation with early osseous metaplasia. CONCLUSIONS Small incision evisceration is possible with ocular volume replacement with an injectable orbital implant. Injectable HA paste shows promise as an option for implantation after eye evisceration; however, further studies are required to establish the stability of this material for this application.

Ultrasonographic Tinel sign

High‐resolution ultrasound has become increasingly useful in the evaluation of peripheral nerves. As we have gained experience, clinically helpful ultrasonographic signs have been detected. One of these is the ultrasonographic Tinel sign, in which paresthesias are produced when the transducer compresses a nerve lesion. This sign has not been previously described. We present a case in which the ultrasonographic Tinel sign helped accurately guide a nerve biopsy in a woman with mononeuritis multiplex. Muscle Nerve, 2009

Intrasacral myxopapillary ependymoma

Intrasacral ependymomas are rare, accounting for only a small fraction of primary sacral tumors. They are typically large at diagnosis, which is preceded by a long history of pain. We present a case discovered during investigation of infertility. MRI features of the myxopapillary subgroup are described.

Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein

The authors present the case of a rare extraventricular, intraparenchymal choroid plexus carcinoma (CPC). This 6-year-old girl presented to the emergency department with a 1-week history of headaches, nausea, and vomiting. Imaging studies revealed an intraaxial cystic and solid mass located in the right frontal lobe with central nodular enhancement and minimally enhancing cyst walls. Gross-total resection was accomplished via craniotomy without complications. The initial pathological diagnosis was atypical teratoid/rhabdoid tumor (AT/RT); however, immunostaining for INI1 protein (using the BAF47/SNF5 antibody) showed retention of nuclear staining in the tumor cells, resulting in a change in the diagnosis to CPC. There was no evidence of recurrence at the last follow-up 2.5 years after treatment, which supports the diagnosis of CPC over AT/RT. This case emphasizes the importance of immunostaining for INI1 protein for distinguishing CPC from AT/RT in cases with atypical or indeterminate features.

Leptomeningeal melanocytosis in an adult male without large congenital nevi: a rare and atypical case of neurocutaneous melanosis.

Leptomeningeal melanocytosis is a primary melanocytic lesion of the central nervous system that is characterized by diffuse melanocytic infiltration of the leptomeninges. It is seen almost exclusively in children with large congenital nevi and together the findings form a dermatologic syndrome known as neurocutaneous melanosis. We report a rare and atypical case of a 31-year-old adult male with no evident congenital melanocytic lesions who presented with neurologic symptoms and was found to have leptomeningeal melanocytosis. The brain biopsy demonstrated a conspicuous but benign-appearing melanocytic infiltrate that was discordant with the severity of the patients symptoms. Ultimately, the patient was suspected to represent a case of former fruste neurocutaneous melanosis. Herein the relevant clinical and histopathologic features are discussed along with a brief review of the literature.

Primary neuroendocrine tumor of the orbit progressing to neoplastic meningitis.

A 60-year-old man presented with multiple cranial neuropathies and an identifiable left orbital lesion along the course of the supraorbital nerve. The pathologic features of the excised orbital lesion were consistent with a poorly differentiated primary neuroendocrine carcinoma. Four years after his diagnosis, the patient succumbed to neoplastic meningitis. No other primary tumor site was identified or clinically apparent during his illness.