Ocular involvement in familial erythrophagocytic lymphohistiocytosis.

BACKGROUND: Familial erythrophagocytic lymphohistiocytosis (FEL), a rare, rapidly fatal childhood disorder, is characterized by intermittent fevers, hepatosplenomegaly, cytopenia, hypercytokinemia and lymphohistiocytic infiltration with erythrophagocytosis involving multiple organs. We report the clinical and histological features of two infants with FEL and emphasize the ocular findings. METHODS: Microscopic examination of formalin-fixed, paraffin-embedded autopsy material was performed. Immunohistochemical studies were performed in case 1. RESULTS: The first patient presented with clinical and laboratory features and a family history consistent with FEL, and a liver biopsy revealed a lymphohistiocytic infiltrate with erythrophagocytosis consistent with FEL. A deceased brother had been diagnosed with FEL. Autopsy showed widely disseminated lymphohistiocytic infiltrates affecting the liver, spleen, bone marrow, lungs, kidneys and brain. Histologic examination of both eyes disclosed a prominent lymphohistiocytic infiltrate of the optic nerve with destruction of nerve fiber bundles as well as milder infiltrates in the choroid, scleral canals, perineural areas in the orbit and the optic nerve head perivascularly. The second patient also had the typical clinical, laboratory and autopsy findings with similar involvement of most organs, including extensive infiltration of the spleen and bone marrow. Histologic examination of one eye revealed marked lymphohistiocytic infiltration of the entire choroid as well as milder infiltration in the trabecular meshwork, iris, ciliary body, optic nerve, meninges and around the central retinal vein in the optic nerve. CONCLUSION: The findings of this study further define the ocular pathologic features of FEL, which are a part of a generalized, multiorgan disseminated disease.

Diagnostic pars plana vitrectomy report of a 21-year retrospective study.

PURPOSE: To review the experience of diagnostic pars plana vitrectomies (PPV). METHODS: The authors reviewed 405 consecutive diagnostic PPV's performed between November 1973 and October 1994. RESULTS: Diagnostic vitrectomy was performed in 215 (53%) of 405 eyes for suspected endophthalmitis. Of those 215 cases, acute inflammation was confirmed in 62 (28.8%), 60 (27.9%) had microbial organisms present and 36 (16.7%) were culture-positive. Microbial organisms were observed microscopically in 31 (20%) of 156 patients suspected of postoperative endophthalmitis. Of those 31 cases, 23 (74%) were gram-positive, eleven (37%) of 30 eyes had organisms associated with glaucoma filtering procedures and 20 (16%) of 126 eyes had organisms with non-filtering procedures. The pooled percentage of eyes that developed postoperative endophthalmitis as a complication during the period July 1990 thru June 1994 is 5 (0.046%) out of a heterogeneous group of 10,898 cases operated on at the Wilmer Eye Institute for cataract, glaucoma, corneal transplant, pars plana vitrectomy and retinal detachment. Bacteria were identified microscopically in 6 (18%) of 34 post-traumatic cases. Microbial organisms were identified in 23 (92%) of 25 cases with an endogenous infection. Patients with endogenous infections had the most fungal infections, and the majority were in males. Neoplasms were diagnosed in 58 (14%) of the 405 cases. The most common neoplasm was ocular lymphoma 42 (72%), 69% of which were in females. Only 42 (48.3%) of 87 patients clinically suspected of having ocular lymphoma, actually had ocular lymphoma. Those negative for lymphoma were significantly older (67.4 +/- 10 years) compared to those with lymphoma (60.4 +/- 14 years) (P = 0.01). CONCLUSION: Diagnostic PPV has proved to be valuable in confirming and establishing various clinical diagnoses.

Ocular and systemic determination of IL-1 beta and tumour necrosis factor in a patient with ocular inflammation.

Cytokines such as interleukin-1 beta (IL-1 beta) and tumour necrosis factor (TNF) may play an important role in ocular inflammation. We studied a patient with clinical features of sympathetic ophthalmia secondary to previous penetrating ocular injuries, and compared the ocular and systemic levels of IL-1 beta and TNF to control serum, and correlated these findings to histopathological sections of the patient's eye. Histology showed the presence of a diffuse chronic inflammatory infiltrate within the choroid and in a perivascular distribution in the retina. The significantly elevated ocular and systemic levels of IL-1 beta and TNF suggest that there is not only a localized ocular response but a systemic response as well. The presence of IL-1 beta TNF may play a role in the pathogenesis of ocular inflammation once the blood ocular barrier has been breached and ocular antigens have been exposed to the systemic immune system.

Angiosarcoma of the breast. A case report.

A case of angiosarcoma of the breast in a 39-year-old black woman is described and the presentation, management and clinical course of this rare tumour are discussed.

Characteristics of sarcoplasmic reticulum from normal and denervated rat skeletal muscle.

Denervation of rat skeletal muscle produces after 14 days a decrease in Ca2+ uptake of a heterogeneous population of sarcoplasmic-reticulum vesicles, when measured in the presence of oxalate. The Mg2+-dependent ATPase (Ca2+-independent) activity increased after the same period and the Ca2+ + Mg2+-dependent ATPase activity decreased. Concomitant with these changes, there was an increase in vesicle size and calcium content. The observations are discussed in terms of changes in altered membrane structure, manifested in the shift of the equilibrium of the ATPase from an enzyme involved in calcium transport to a phosphoenzyme giving rise to an increase in the Mg2+-dependent ATPase activity.