Payal Patel

Whole-body 18F FDG positron emission tomography/computed tomography evaluation of patients with uveal metastasis.

PURPOSE To investigate the value of whole-body positron emission tomography/computed tomography (PET/CT) as a screening tool for patients with uveal metastasis. DESIGN Retrospective observational case series. METHODS setting: Clinical practice. study population: Eighteen patients with uveal metastatic tumors were evaluated. Patients had no history of malignancy or a past medical history of malignancy without known active metastasis or known systemic cancer. intervention: Whole-body PET/CT was used as a screening tool to evaluate the intraocular tumor, to evaluate for multi-organ metastatic disease, and for cancer staging. main outcome measures: Detection and PET/CT uptake of primary tumors and metastatic disease. RESULTS PET/CT imaging uncovered previously occult primary nonocular cancers (11/18, 61%), revealed progression of known primary systemic cancer (7/18, 39%), and confirmed multi-organ metastases in all cases (18/18, 100%). PET/CT findings were used to direct nonocular, confirmatory biopsy in 67% of cases (12/18). No uveal biopsies were required. PET/CT revealed lymph nodes and bone as the most common metastatic sites. The intraocular tumor was detectable in 28% of cases. Small, non-avid tumors and those within the hypermetabolic, PET-avid brain were falsely negative. CONCLUSION This study suggests that whole-body PET/CT can be useful for clinical evaluation of patients with uveal metastases. It allowed for screening of the entire body and directed extraocular biopsy. Commonly used for tumor staging, PET/CT aided in the detection of the primary cancer in patients with metastatic uveal tumors.

Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: A cautionary tale for prophylactic gonadectomy

Abstract Mutation of the Wilms tumor gene (WT1) is associated with two well-described syndromes called Denys-Drash (DDS) and Frasier (FS). Both are associated with nephropathy and ambiguous genitalia and have overlapping clinical and molecular features. The known risk of Wilms tumor in DDS and gonadoblastoma (GB) in FS patients requires tumor surveillance. The literature reports the occurrence of GB in DDS as lower than FS. This case highlights a very early presentation of bilateral GB in DDS and the consideration of early prophylactic gonadectomy at the time of diagnosis with DDS.

Early occurrence of cerebral white matter abnormality detected in a neonate with salt-wasting congenital adrenal hyperplasia.

Abstract The development of white matter signal abnormalities on magnetic resonance brain imaging (MRI) in children and young adults with congenital adrenal hyperplasia has been well documented. Existing theories regarding the development of these findings include effects of electrolyte imbalances, effects of disease-related hormone abnormalities, and non-physiologic long-term administration of corticosteroids. Many of the patients previously described were normal neurologically. We describe the case of white matter signal abnormalities in a neonate with salt-wasting congenital adrenal hyperplasia who presented with seizures during the first week of life, possibly due to a transient blood calcium disturbance. This case suggests that white matter changes are not simply the result of chronic insults and that they may not always be subclinical.

The relationship between insulin resistance and endothelial dysfunction in obese adolescents

Abstract Background: Insulin resistance and endothelial dysfunction share a reciprocal relationship that links the metabolic and cardiovascular sequelae of obesity. We characterized the brachial artery reactivity testing (BART) and carotid artery-intima media thickness (CIMT) in adolescents categorized as obese insulin resistant (OIR) and obese not insulin resistant (ONIR). Lipoprotein particle (p) analysis and inflammatory cytokines in OIR and ONIR groups were also analyzed. Methods: Obese adolescents (n=40; mean body mass index [BMI] 35.6) were categorized as ONIR and OIR based on their homeostatic model assessment of insulin resistance (HOMA-IR) calculation (≤or> than 3.4). Ultrasound measured conduit arterial function BART, microvascular function (post-ischemic hyperemia) and conduit artery structure CIMT. Results: BART did not differ according to IR status (mean±SD: 7.0±4.3% vs. 5.9±3.4% in ONIR and OIR, respectively, p=0.3, but post-ischemic hyperemia was significantly greater in the ONIR group (4.5±2.2 vs. 3.5±3, p=0.04). Atherogenic lipoprotein particles; large VLDL particles and small LDL particles were higher in the OIR compared to ONIR group. Conclusions: OIR adolescents demonstrate an inflamed atherogenic milieu compared to the ONIR adolescents. Microvascular function, but not conduit vessel structure or function, was impaired in association with IR.

Intramuscular hemangioma of the inferior oblique: a rare cause of extraocular muscle enlargement.

Author Contributions: Dr Greene had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. Study concept and design: All authors. Acquisition of data: Greene. Analysis and interpretation of data: Greene, Jeng, Margolis. Drafting of the manuscript: Greene, Margolis. Critical revision of the manuscript for important intellectual content: All authors. Statistical analysis: Greene. Administrative, technical, or material support: Jeng, Margolis. Study supervision: Jeng, Fintelmann, Margolis.

Gestational choriocarcinoma metastasis to the extraocular muscle: a case report.

This case report describes a biopsy-proven metastasis of gestational choriocarcinoma to the medial rectus muscle. Patient evaluation and follow up included comprehensive ophthalmologic history and examination, external and fundus photography, immunohistochemistry preparations of the medial rectus muscle specimen, MRI, ultrasound of the abdomen and pelvis, comprehensive blood tests, and CT scans of the chest, abdomen, and pelvis. The tissue specimen was obtained via a medial perilimbal conjunctival peritomy. MRI revealed a mass intrinsic to the right medial rectus muscle. Immunohistochemical staining confirmed gestational choriocarcinoma metastasis in medial rectus muscle biopsy. The patient showed general and orbital improvement following 7 subsequent cycles of chemotherapy. In conclusion, gestational choriocarcinoma may metastasize to the orbit in addition to the previously reported ocular site, the choroid. A chemotherapy regimen of etoposide, methotrexate, actinomycin-D, cyclophosphamide, and vincristine can effectively treat the intraorbital component of the disease.

Langerhans Cell Histiocytosis Presenting as a Nodulo-Ulcerative Eyelid Lesion.

The authors describe a 23-year-old man with unilateral upper eyelid swelling that evolved into a multinodular lesion with central necrosis, mimicking a neoplasm. Biopsy showed a lympho-histiocytic, eosinophil-rich proliferation with positivity for Langerhans cell markers CD1a and S-100 and histiocytic marker CD68. A literature review disclosed 11 documented cases of Langerhans cell histiocytosis of the eyelid with variable clinical presentations. This rare eyelid lesion, nearly always solitary, has no clinically distinctive characteristics and requires biopsy for diagnosis. Langerhans cell histiocytosis (LCH), formerly histiocytosis X, comprises a group of rare disorders characterized by the proliferation of specialized bone marrow-derived Langerhans cells intermingled with mature eosinophils. Proliferations may be multifocal (disseminated) or unifocal (solitary). Ophthalmic lesions are usually unifocal and tend to be located in the orbital region. Isolated eyelid foci are rare and present with variable patterns that preclude clinical diagnosis. In this report, the authors describe a case of multinodular, ulcerative involvement of the eyelid skin that mimicked a basal cell carcinoma. This study was conducted in compliance with the rules and regulations of the Health Insurance Portability and Accountability Act.

Ointment Granulomas Following Sutureless Transconjunctival Blepharoplasty: Diagnosis and Management.

Purpose:To describe a case series of ointment granuloma as a complication of sutureless transconjunctival blepharoplasty. Methods:A retrospective review of the medical records of 8 patients with this complication was conducted, including the histopathology of excised tissues. Institutional review board oversight was waived as this was not an institutional study but a Health Insurance Portability and Accountability Act-compliant retrospective chart review from the private medical practice of one of authors’ coauthors. It adhered to the principles set forth in the Declaration of Helsinki. Results:Eight patients developed painless lower eyelid and anterior orbital masses following presumed successful blepharoplasty. Each had received intra- or immediate postoperative lubricating ointment. The mean time from surgery to appearance of the lesions was 50 days (range: 9 days–10 months). Three patients responded to intralesional injection of steroid with complete resolution. Five patients required surgical excision of the lesions without recurrence to date. Histopathological examination of the excised tissues revealed large, pleomorphic lipid-dropout pools bordered by attenuated histiocytes and giant cells. Conclusions:The appearance of eyelid lumps or fullness in the early and mid-postoperative recovery should suggest ointment granuloma. If recognized early, management should commence with intralesional injection of steroids, although the definitive treatment is surgical excision. The authors recommend minimizing the access of topical ointments to the open inferior fornix, placing the medication sparingly onto the cornea at the close of surgery and instructing patients in avoiding overuse.

Recurrent Thyroid Eye Disease.

Purpose: The natural history of thyroid eye disease follows a biphasic course featuring an initial active stage followed by a durable quiescent stage. Reactivation of thyroid eye disease is defined by recurrence of inflammatory signs and symptoms after a period of stability lasting at least 6 months. It is thought to be rare and is poorly studied. The goal of this study was to define the incidence and characteristics of recurrent thyroid eye disease. Methods: A retrospective chart review of 415 visits of patients with thyroid eye disease was performed between 2006 and 2012. Recurrent cases were identified by subjective historical accounts of disease recurrence, review of prior orbital imaging, and photographic evidence. Results: Among 415 cases of thyroid eye disease, 65 cases of recurrence (15.7%) were identified. Most cases of reactivation occurred within the first 10 years after the initial episode of thyroid eye disease. The mean age of patients at the first event was 42.2 years and 52.6 years at the second event. Eighteen patients had identifiable events that may have triggered disease recurrence. The recurrence rate was higher among patients that had been smokers during their first episode of thyroid eye disease (22%) compared with the nonsmokers (14.6%). Conclusions: Although uncommon, recurrence of thyroid eye disease does not appear to be as rare as previously believed. A better understanding of the natural history of thyroid eye disease is important as it impacts patient education and management.

Arteriovenous Malformation of the Eyelid: Surgical Management and Histologic Study.

A raised erythematous eyelid lesion that appeared in a 31-year-old man was diagnosed as an arteriovenous malformation (AVM), with confirmatory Doppler ultrasound demonstrating high arterial flow. Surgical excision, aided by electrocautery for extensive hemorrhage, resulted in an acceptable cosmetic result. Histopathology of the excised lesion showed collapsed capillary channels lined by endothelium. AVM is rarely encountered in the eyelid.