Roberta E. Gausas

Presence of Erdheim-Chester Disease and Langerhans Cell Histiocytosis in the Same Patient: A Report of 2 Cases

The histiocytic disorders Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD), can both present with multisystem involvement, with the central nervous system and the bone, skin, neuroendocrine, cardiac, respiratory, and gastrointestinal systems potentially affected. The 2 entities occasionally can be difficult to distinguish. Both rarely affect the orbit and the central nervous system, and although there are rare reports of patients with coexistent LCH and ECD, there are no reported cases of the 2 diseases that involve both the orbital and neuroendocrine systems. We report 2 such cases, and review the literature of cases of LCH and ECD occurring in the same patient. The presentation of LCH and ECD in certain patients suggests a possible abnormality in the common CD34 progenitor cell. The coexistence of the 2 disease states should be suspected in patients with atypical presentations of either disorder.

D2-40 Expression Demonstrates Lymphatic Vessel Characteristics in the Dural Portion of the Optic Nerve Sheath

Purpose: To investigate the presence or absence of lymphatic vessels in the human optic nerve by means of immunohistochemistry. Methods: Use of selective molecular markers to differentiate lymphatics from blood vessels in optic nerve specimens obtained after enucleation or exenteration procedures. Specifically, the lymphatic-specific monoclonal antibody D2-40 was used to identify lymphatic endothelial cells in contrast to CD-34 identification of endothelial cells of blood vessels. Optic nerves obtained from 10 enucleation and 2 exenteration specimens submitted for routine pathology. Paraffin-embedded sections of human optic nerve were immunostained with the lymphatic specific endothelial marker D2-40 and the vascular specific endothelial marker CD-34, using a double-staining method. Results: Immunostaining with the lymphatic selective marker D2-40 positively demonstrated lymphatic vessels in the dura mater of the optic nerve. CD-34 counter-immunostaining identified blood vessels as separate vascular structures within the optic nerve meninges and adjacent ocular tissues. Positive D2-40 staining of the arachnoid mater in a nonvascular pattern was identified. Conclusions: Vessels with features compatible with lymphatic vessels were demonstrated by means of a selective monoclonal immunohistochemical marker for lymphatic endothelium in the dura mater of the human optic nerve.

Orbital presentation of posttransplantation lymphoproliferative disorder: A small case series

OBJECTIVE To describe a small series of patients with orbital presentation of posttransplantation lymphoproliferative disorder (PTLD). DESIGN Retrospective, interventional case series. PARTICIPANTS Three patients with orbital presentation of histologically diagnosed PTLD. METHODS Review of medical records. MAIN OUTCOME MEASURES Measured parameters included vision, proptosis, and tumor extent. RESULTS Three cases of orbital PTLD are described. In two of the cases, the tumor initially demonstrated orbital signs and symptoms, whereas in the third case, orbital and systemic signs were synchronous. Two of three patients had disseminated disease discovered at the time of presentation. One adult patient had synchronous presentation of PTLD in the orbit and prostate. One pediatric patient had tumor dissemination to the liver at the time of presentation. The PTLD tumors were classified histologically as diffuse large cell lymphoma of monomorphic or immunoblastic type in all three cases. Treatment included local irradiation, decreased immunosuppression, and antilymphocyte monoclonal antibodies. CONCLUSIONS Orbital presentation is a rare manifestation of PTLD. However, ophthalmologists must consider this diagnosis carefully in organ transplant recipients with subtle orbital signs and symptoms at presentation. Early detection may alter prognosis. In each case presented, the diagnosis was established via lesion biopsy and subsequent histologic or flow cytometric evaluation, or both.

Advances in applied anatomy of the eyelid and orbit.

Purpose of review The oculofacial surgeon seeking to achieve ideal outcomes and avoid complications in aesthetic, functional and reconstructive surgery must have an understanding of the three-dimensional anatomic features, as well as the dynamic aspects, of the eyelid and orbital region. Knowledge of the orbital and periorbital region may be the last frontier of human anatomy, as new information is still being uncovered every year and each clarification of anatomy leads to a new level of sophistication in the understanding and treatment of orbital and eyelid disease both medically and surgically. Recent findings Recently, a great deal of attention has been focused on better understanding of the vasculature, fatty tissue, fascial attachments, and lymphatic drainage of the orbital and periorbital region. This in turn has provided improved clinical understanding of orbital disease and surgical applications of these findings have been described. Summary Anatomic knowledge in ophthalmology is not yet complete but constantly evolving. Exciting new insights into treatment of ophthalmologic disease have resulted from the application of an ever greater anatomic understanding of the orbital and periorbital region.

Endoscopic endonasal surgical resection of tumors of the medial orbital apex and wall

Department of Neurosurgery, University of Pennsylvania School of Medicine, 235 South Eighth Street, Philadelphia, PA 19106, United States Department of Otorhinolaryngology and Head and Neck Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA, United States Department of Otorhinolaryngology and Head and Neck Surgery Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, PA, United States

Transient descent of the contralateral eyelid in unilateral ptosis surgery.

Purpose: To report novel findings regarding contralateral eyelid height (i.e., intraoperative descent, followed by postoperative elevation) during unilateral ptosis surgery and to comment on their relevance in surgical planning. Methods: Twelve adults with unilateral ptosis underwent levator advancement surgery. During surgery, eyelid height was set to the contralateral preoperative margin reflex distance value, rather than intraoperative level. The margin reflex distance of both eyes was measured before, during, and after surgery. Results: The mean preoperative margin reflex distance on the ptotic side was 0.63 mm versus 3.83 mm contralaterally. No patient demonstrated a Hering phenomenon preoperatively. In each case, the goal was to elevate the ptotic eyelid to the contralateral preoperative height. For the ptotic eyelid, this resulted in a mean intraoperative margin reflex distance of 4 mm. Simultaneously, the contralateral side was noted to drop in each case, to a mean margin reflex distance of 1.67 mm. Postoperatively, at a mean follow up of 1.25 weeks, the mean margin reflex distance values were 3.88 mm and 3.83 mm for the operated and unoperated sides, respectively (Pearson correlation coefficient = 0.88, p < 0.05). At a mean follow-up of 4.35 months, the mean margin reflex distance values were 3.80 mm and 3.83 mm for the operated and unoperated sides, respectively (Pearson correlation coefficient = 0.96, p < 0.05). No patient had greater than 0.5 mm of asymmetry, and no patient requested postoperative adjustment. Had intraoperative symmetry been obtained with a postoperative contralateral return to preoperative height, a mean 42.1% of postoperative height asymmetry would have resulted between the 2 eyelids. Conclusions: During unilateral levator advancement surgery, the authors noted that the contralateral eyelid temporarily droops, and this Hering-like effect reverses postoperatively. The authors recommend that by raising the operated eyelid to the height of the contralateral side’s preoperative (rather than intraoperative) height, excellent postoperative eyelid height and symmetry can be obtained.

Blepharospasm and Apraxia of Eyelid Opening Associated with Anti-Hu Paraneoplastic Antibodies: A Case Report

PURPOSE To report a case of blepharospasm associated with anti-Hu paraneoplastic antibodies that was treated successfully with botulinum toxin A. DESIGN Case report. PARTICIPANTS A 57-year-old man had altered mental status and a 20-pound weight loss at presentation. Evaluation revealed an occult small-cell lung cancer. Despite initiating appropriate chemotherapy, his mental status worsened and over the course of several weeks, he was unable to open his eyes because of forceful orbicularis contractions. Neuroimaging and cerebrospinal fluid studies found no evidence of intracranial metastases. However, his paraneoplastic panel was positive for anti-Hu antibodies. He was diagnosed with paraneoplastic encephalitis and blepharospasm. INTERVENTION Intravenous Solu-Medrol (Pharmacia & Upjohn Co, Bridgewater, NJ) and periocular injections of botulinum toxin A. MAIN OUTCOME MEASURES Ocular disease control. RESULTS Intravenous Solu-Medrol improved his mental status, but did not change his ocular symptoms. Subsequent botulinum toxin A injections allowed spontaneous eyelid opening. CONCLUSIONS Although paraneoplastic blepharospasm is rare, it is an important diagnosis to be aware of because paraneoplastic disorders often herald an occult tumor. This is the only case of paraneoplastic blepharospasm that the authors know of that was the result of anti-Hu antibodies as well as the only case that was treated with botulinum toxin A.

Waldenström macroglobulinemia of the orbit.

A 77-year-old man with known Waldenström macroglobulinemia was examined for unilateral proptosis and periorbital swelling. The patient was found to have an orbital mass involving the lateral wall. Histologic and immunophenotypic matching of the orbital mass to the patients systemic findings were used to diagnose the orbital mass as a Waldenström macroglobulinemia tumor.

Optic nerve biopsy in the management of progressive optic neuropathy

Background: In cases of progressive optic neuropathy, diagnostic uncertainty often persists despite extensive work-up. Optic nerve biopsy (ONB) can be considered, especially when visual decline of the affected or fellow eye ensues despite empiric therapy. We aimed to evaluate both diagnostic and therapeutic utilities of ONB based on the long-term experience at a tertiary care institution. Methods: This was a retrospective chart review of biopsies over 20 years at a single institution involving intrinsic or adherent optic nerve masses. Main outcome measures included the impact of tissue sampling on reaching a diagnosis and on guiding treatment. Secondary measures included vision in the eye of the ONB and the fellow eye. Results: Fifteen patients with a mean age of 51.7 ± 17.4 years underwent biopsies. At the time of biopsy, visual acuity was no light perception in 8 (53%) eyes, light perception to counting fingers in 5 (33%), and 20/400 or better in 2 (13%). The fellow eye of 7 patients (47%) experienced some degree of sequential vision loss before biopsy. Seven specimens included en bloc biopsy of the nerve, 7 contained the dural sheath (usually with a portion of the optic nerve), and 1 only of the compressive mass. Six patients (40%) had tumors. Six of 8 inflammatory lesions biopsied required further clinical data to arrive at specific diagnoses. In one case, a clinical diagnosis could not be made. No patients experienced further vision loss in the fellow eye at last follow-up (median, 8 months). Conclusions: In diverse circumstances of progressive optic neuropathy, ONB can be beneficial in establishing the diagnosis. ONB can help direct specific local or systemic treatment, particularly when infectious or inflammatory etiologies are identified. ONB, if considered early in the disease course, can potentially halt or prevent vision loss when the fellow eye is threatened.

Langerhans cell histiocytosis of the orbit 10 years after involvement at other sites.

Langerhans cell histiocytosis within the orbit generally occurs in children and is marked by periorbital pain and swelling. Although these lesions respond well to minimal local curettage and concomitant corticosteroid injection, this disorder can be extremely aggressive and destructive. Recurrences usually occur within 12 months to 18 months after diagnosis. Herein, we discuss a patient who initially had mastoid and maxillary lesions and developed unilateral orbital involvement with periorbital pain and edema after a 10-year disease-free interval, and review other cases of late recurrence. The patients symptoms resolved after curettage and injection of intralesional steroids. Clinicians should be aware that Langerhans cell histiocytosis may reappear at other sites, including the orbit, even after several years of quiescence.