Multifocal venous malformations: two interesting case presentations.

INTRODUCTION: Multiple venous abnormalities involving the orbit, head and neck regions have been previously described. We present two similar cases of low-flow orbital venous vascular malformations (VVMs) in association with multiple low-flow VVMs in the head and neck as well as in the peripheral limb. Literature search revealed that this association has not been previously reported. METHODS: Retrospective review of two patients with multifocal VVMs was performed. RESULTS: Case 1: A 46 year-old Chinese female had a history of multiple vascular lesions involving the right orbit, the tongue, right neck region, right arm and one finger. Valsalva manoeuvre resulted in distension of these lesions. CT scan of the orbits demonstrated bilateral low-flow VVMs. CT angiogram also revealed multiple developmental venous anomalies in the brain. Case 2: A 16 year-old Chinese female had a history of multiple venous malformations involving the neck, left forearm and oral region. Dynamic manoeuvres demonstrated the distensible nature of these lesions. MRI scans of the orbits showed bilateral extraconal low-flow VVMs. Similar mass lesions were seen on MRI scans of the neck. CONCLUSIONS: Multiple cervicofacial venous malformations with developmental abnormalities of the intracranial venous system have been described previously. However, their associations with similar VVMs in the peripheral limb regions have not been reported. Our cases illustrate this rare association. VVMs appear to be benign in nature with symptoms mainly due to mass effect. Management can be conservative in the absence of any sight threatening complication.

Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review.

BACKGROUND/AIMS: Adult xanthogranulomatous disease involving the ocular tissues is rare and poorly understood. Adult onset xanthogranuloma (AOX), adult onset asthma and periocular xanthogranuloma (AAPOX), necrobiotic xanthogranuloma (NBX), and Erdheim-Chester disease (ECD) are the four syndromes within this disorder, which is diagnosed by characteristic histopathology. Experience with eight cases prompted a multi-institutional effort to study the histopathology, immunohistochemistry, clinical findings, and systemic associations in this disorder. METHODS: 22 cases, including histopathological slides, were compiled. Published reports were identified by an English language Medline search (1966-2005) and review of reference citations. Each case in this series and the literature was classified as one of four syndromes and then analysed for age onset, sex, skin xanthoma, orbital location, immune dysfunction, internal organ and bone lesions, treatment, and outcome. The histopathology in each of these cases was reviewed by two pathologists. Immunhistochemical stains (CD3, CD4, CD8, L26) were performed in 14 cases where unstained slides were available. RESULTS: 137 cases were compiled. There was no sex or age difference between syndromes. AOX, AAPOX, NBX affect the anterior orbit, ECD tends to be diffuse and intraconal. Skin lesions are found in all the syndromes. Immune dysfunction was noted in all cases of AAPOX and NBX; 11% of NBX and all ECD patients had internal organ disease. Treatment included surgery, corticosteroids, other chemotherapeutic agents, radiotherapy, and combinations of these. No AOX or AAPOX deaths occurred; 66% of ECD patients died. All 22 cases had xanthoma cells; most had Touton giant cells. Lymphocytes were present in all cases and occurred as aggregates (mostly in AAPOX) or diffuse populations mixed with fibroblasts (mostly in ECD). Immunohistochemistry revealed the majority of these to be CD8+. Necrosis was most marked in NBX. CONCLUSION: Adult xanthogranuloma of the orbit is rare, making prospective evaluation or meta-analysis impossible. The best treatment is unknown but seems to be with multiagent chemotherapy guided by histopathological, immunohistochemical, and systemic findings.

Factors associated with decompression and strabismus surgery in thyroid eye disease.

INTRODUCTION: Prognostication of the thyroid patient with eye disease aids in the choice of treatment strategy. To facilitate this, we investigated factors associated with decompression and/ or strabismus surgery in the Singaporean population. MATERIALS AND METHODS: A 5-year retrospective study was performed. Patients who required strabismus and/or decompression surgery (n = 23) were compared to those who did not undergo either surgery (n = 44). Individual and multivariate age-adjusted odds ratios were calculated to determine significant associations. RESULTS: Individually, male gender [odds ratio (OR), 4.5; 95% confidence interval (CI), 1.5 to 13.4], uncontrolled hyperthyroidism (OR, 4.0; 95% CI, 1.1 to 14.3), steroid therapy (OR, 7.4; 95% CI, 2.3 to 24), diplopia (OR, 7.3; 95% CI, 2.3 to 23.1), objective vertical myopathy (OR, 11.7; 95% CI, 1.4 to 96.0), elevated intraocular pressure in the primary position (OR, 3.4; 95% CI, 1.2 to 10.0) and clinical evidence of optic neuropathy (OR, 13.1; 95% CI, 1.4 to 124.6) were significantly associated with the need for surgery. Logistic regression analysis showed the greater impact of male gender (OR, 4.2; 95% CI, 1.2 to 15.4), optic neuropathy (OR, 13.0; 95% CI, 1.2 to 143.7) and previous steroid therapy (OR, 4.2; 95%CI, 1.1 to 16.2) on prognostication. CONCLUSIONS: Chances of requiring strabismus and/or decompression surgery are significantly higher for male patients and those with uncontrolled hyperthyroidism. In particular, male patients with optic neuropathy and a history of previous steroid therapy warrant a graver prognosis.

Localised invasive sino-orbital aspergillosis: characteristic features.

BACKGROUND/AIM: To describe the characteristic constellation of historical, clinical, radiographic, and histopathological findings of localised invasive sino-orbital aspergillosis based on the authors' recent experience of four consecutive cases presenting over a 6 month period. Treatment and outcome are reviewed. METHODS: A case series of four patients with review of the English language literature. RESULTS: There have been 17 reported cases of invasive sino-orbital aspergillosis in healthy individuals over the past 33 years. The authors report four patients who presented during a 6 month period with persistent and significant pain followed by progressive ophthalmic signs-clinical histories reflecting the literature. Similar imaging findings were also noted: focal hypodense areas within apical infiltrates on contrasted computed tomography correspond to abscesses seen at surgery, and sinus obliteration or involvement of the adjacent sinus lining was noted on magnetic resonance imaging. Bone erosion (often focal) was also seen. There is frequently a delay in making the correct diagnosis, and often disease progression occurs despite treatment. CONCLUSIONS: The authors encountered four cases of invasive sino-orbital aspergillosis, three of which occurred in otherwise healthy individuals. The clinician must be aware of the characteristic presentation so that earlier diagnosis, management, and improved outcomes can be achieved.

Orbital venous-lymphatic malformations (lymphangiomas) mimicking cavernous hemangiomas.

PURPOSE: To illustrate that orbital venous-lymphatic malformations (lymphangiomas) may rarely simulate cavernous hemangiomas. METHODS: Retrospective case review. RESULTS: Five patients were identified from a series of 85 patients with venous-lymphatic malformations. The age range was 21 to 69 years, and all cases presented with a history of slowly progressive or long-standing proptosis. Computerized tomography revealed relatively homogeneous intraconal masses that were well defined anteriorly. Two of the cases had expansion of the orbit, and one had focal calcification. The three who had magnetic resonance imaging showed heterogeneous contrast enhancement. The preoperative diagnosis in every case was cavernous hemangioma, and intraoperatively the lesions resembled cavernous hemangiomas. However, posterior dissection was difficult in all patients because of dense adhesions and, in one case, led to a central retinal artery occlusion. The histology was characteristic of orbital venous-lymphatic malformations in all five cases. CONCLUSIONS: Deep orbital venous-lymphatic malformations presenting in adulthood may be rarely confused with cavernous hemangiomas. In doubtful cases, significant intralesional heterogeneity, best seen on magnetic resonance imaging, and focal calcification may help distinguish the two entities. This differentiation is important, because dissection of venous-lymphatic malformations is fraught with more complications than surgical excision of a cavernous hemangioma.

Intraorbital rupture of a cavernous internal carotid artery aneurysm: therapeutic options.

PURPOSE: To describe the use of an endovascular therapeutic technique in the management of a giant carotid cavernous aneurysm. METHODS: We reviewed the clinical and neuroradiologic findings of a patient with an unusual case of carotid cavernous aneurysm and intraorbital rupture. The medical literature was searched for similar cases and to review the use of endovascular techniques. RESULTS: The patient was treated by balloon occlusion of the left internal carotid artery. CONCLUSIONS: Endovascular techniques can be used to treat complex giant cranioorbital cavernous aneurysms.

Orbital granulomatous giant cell myositis: a case report and review.

To present a case of orbital granulomatous giant cell myositis and review the literature. We describe the case of a 51-year-old woman, with a past history of melanoma, who presented with an acutely painful orbital myositis. This evolved into a chronic relapsing process involving multiple muscles bilaterally; which demonstrated partial steroid responsiveness. Biopsy revealed a granulomatous giant cell myositis. Orbital granulomatous giant cell myositis is a rare histological entity which has an association with giant cell myocarditis and underlying malignancy.

Nonthyroid causes of extraocular muscle disease.

Extraocular muscle involvement in orbital disease is most frequently seen as a feature of thyroid orbitopathy (Graves' disease). However, a wide range of other conditions may alter the size, shape, and function of these muscles, with characteristic clinical manifestations or abnormalities visible on orbital imaging. The differential diagnosis of muscle disease can be narrowed by careful analysis of clinical features and ancillary tests. Imaging facilitates recognition in many cases, but in some instances, accurate diagnosis requires biopsy. This review highlights the differential diagnoses for diseases of extraocular muscles based on the clinical and investigative records of 103 patients at our institution combined with data from the world literature. We found that the most common nonthyroid causes of muscle disease were inflammatory, vascular, and neoplastic processes (in decreasing order of frequency). Emphasis is placed on investigations that provide a logical approach to, and appropriate management of, disease of the extraocular muscles.

Distensible venous malformations of the orbit: clinical and hemodynamic features and a new technique of management.

OBJECTIVE: To investigate distensible venous malformations of the orbit (DVMO) as part of a spectrum of orbital vascular malformations, including some that involved periorbital skin, extraorbital sites (central nervous system or nasal sinuses), or combinations of these. The authors also investigated the effectiveness of a new technique of management for selected cases. DESIGN: Retrospective noncomparative case series. PARTICIPANTS: Thirty patients had distensible venous anomalies, of which four were combined distensible venous-lymphatic vascular malformations. Distensible lesions were defined as those showing clinical or radiographic expansion with Valsalva maneuver or when the head was placed in a dependent position. These lesions were then classified as superficial (anterior to the equator of the globe), deep (posterior to the globe's equator), combined (deep and superficial), or complex (with intracranial or major extraorbital involvement). INTERVENTION: Surgery was performed on 15 patients (50%), mainly for pain or for cosmetic indications. Six patients underwent this new technique, which involved intraoperative direct venography with control of outflow via pressure at the superior or inferior orbital fissure. The venous malformation was then embolized (by use of cyanoacrylate glue) and excised. RESULTS: The mean age at presentation was 28.2 years (range, 8 months to 75 years). Sixty-six percent of cases involved the left orbit. Superior and medial orbital involvement was most common. Three cases (10%) were classified as superficial, and 13 (43%) as deep. Six patients (20%) had combined superficial and deep components. Eight (27%) had major extraorbital involvement (4 intracranial, 2 facial, and 2 paranasal sinus). Direct venography demonstrated complex multichannel anomalies draining to various sites, including the face and pterygopalatine fossa, without necessarily having a direct connection to the major orbital venous circulation. CONCLUSIONS: Distensible venous malformations of the orbit are part of a spectrum of developmental venous malformations that may be localized to the orbit or involve it as part of a more extensive lesion. The authors describe their clinical and radiologic features and report a new technique of management for selected cases. This method of vascular isolation and embolization of lesions may greatly facilitate excision.