Muscular sarcoidosis: apropos of a case

We report the case of a 75-year old woman presenting sarcoid myopathy with pseudohypertrophy and skin involvement. Muscular biopsy confirmed the diagnosis of sarcoidosis. Symptomatic muscle involvement in sarcoidosis is rare. Three forms are described: myopathic, myositic and nodular. The relevance of imaging techniques is reviewed. Treatment is based on corticotherapy which is less efficient in myopathic form and in this case we had to use methotrexate with success.     

Orbital myositis

Orbital myositis is a subgroup of the nonspecific inflammatory syndrome or orbital pseudotumor and is characterized by a primary inflammation of extraocular muscles. The authors describe a 70-year-old patient with acute proptosis, ocular pain and right ophthalmoplegia, whose orbital computed tomographic scan showed enlargement of the homolateral extraocular muscles. Clinical presentation and complementary tests were compatible with the diagnosis of orbital myositis however, because of the particular aspects, which included retinal central vein occlusion, optic nerve lesion, distension of the superior ophthalmic vein and the homolateral cavernous sinus, the differential diagnosis with cavernous sinus pathology and thyroid ophthalmopathy was considered. The importance of a rapid diagnosis and treatment is stressed.     

Service-mix in general dental practice in Japan: a survey in a suburban area

The authors describe a supernumerary muscle in each orbit of an elderly male subject. There appear to be no previous reports of this muscle; most reports of anomalies of extraocular muscles describe hypoplasia or aplasia. Thirty-five formalin-fixed cadavers assigned to medical students for dissection were studied. The orbits were dissected by a superior approach which involved removal of the orbital plate of the frontal bone and the superior orbital margin. A supernumerary extraocular muscle was seen in each orbit of one cadaver, located between the superior oblique and levator palpebrae superioris muscles. It originated on the inferior surface of the lesser wing of sphenoid bone and was inserted into the skin of the medial one-third of the upper eyelid. It was innervated by a branch from the superior division of the oculomotor nerve. The insertion of the muscle into the upper eyelid produced a crease running obliquely upwards and medially, from the junction of the medial one-third and lateral two-thirds of the lid margin, towards the medial part of the superior orbital fold. The authors suggest the name levator palpebrae superioris accessorius for this muscle in view of its topography and action as tested in the cadaver. The significance of the findings is discussed and the literature on the development of the muscles supplied by the oculomotor nerve is reviewed.     

High resolution, dynamic, magnetic resonance imaging in complicated strabismus

Strabismus cases, especially after previous surgery or trauma to extraocular muscles, often present diagnostic challenges. Conventional clinical tests are helpful in some cases but may be inconclusive. High resolution, dynamic, orbital magnetic resonance imaging (MRI) may yield additional critical information about orbital and extraocular muscle anatomy and function. We report four complicated strabismus cases for which dynamic surface coil MRI helped formulate a precise diagnosis and the most appropriate surgical plan.     

Extraocular muscles: basic and clinical aspects of structure and function

Although extraocular muscle is perhaps the least understood component of the oculomotor system, these muscles represent the most common site of surgical intervention in the treatment of strabismus and other ocular motility disorders. This review synthesizes information derived from both basic and clinical studies in order to develop a better understanding of how these muscles may respond to surgical or pharmacological interventions and in disease states. In addition, a detailed knowledge of the structural and functional properties of extraocular muscle, that would allow some degree of prediction of the adaptive responses of these muscles, is vital as a basis to guide the development of new treatments for eye movement disorders.     

Bilateral orbital metastases from breast carcinoma. A case of false pseudotumor

OBJECTIVE: To inform clinicians of a metastatic orbital neoplasm that frequently masquerades as an orbital inflammatory syndrome and to stimulate thought regarding this neoplasm's fundamental pathobiology specific to its orbital involvement. DESIGN: Interventional case report and literature review. PARTICIPANTS: A 47-year-old woman with an acquired, bilateral, diffusely infiltrative orbital process is described. INTERVENTION: The clinical and radiographic features of the patient's orbital process are reported. The review of two prior fine-needle aspiration biopsy specimens failed to reveal a diagnosis. Histopathologic examination of an open surgical biopsy specimen included standard light microscopy of frozen and formaldehyde-fixed, paraffin-embedded tissue. RESULTS: Characteristics light microscopy findings suggested the diagnosis of metastatic lobular carcinoma of the breast. The patient refused all therapeutic intervention and died 9 months after orbitotomy. CONCLUSION: The presentation of breast carcinoma metastatic to the orbit as a bilateral infiltrative process is far more common than appreciated previously. Its rate of bilateral orbital involvement is 20%, whereas this rate for other adult neoplasms is much lower. The authors report an additional case, review the clinical features of previous case reports and series, and discuss aspects of the metastatic process. Breast carcinoma must be included in the differential diagnosis of infiltrative orbital processes encountered in adult female patients. When "orbital pseudotumor" is detected in an adult female patient, a thorough medical history must be obtained and physical examination performed. If a possible primary breast carcinoma is indicated, one must be wary of metastatic disease, and a histologic orbital diagnosis is warranted. The frequency of orbital metastasis and bilateral orbital involvement of this neoplasm reinforces the possibility for organ-specific metastases.     

Intense muscle uptake of gallium-67 in a patient with sarcoidosis

Sarcoidosis has been associated with muscle involvement. In general, this involvement remains asymptomatic. The following case report demonstrates a patient with a 4-mo history of sarcoidosis who reported severe fatigue and slight muscular complaints at a regular checkup. Gallium scintigraphy indicated unexpected and unusually extensive muscular localizations of the disease. The latter findings were confirmed by examination of biopsy specimens. The importance of gallium scintigraphy lies in the possibility of wholebody screening for inflammation localizations, particularly when physical, laboratory, lung function and radiographic examinations fail to provide convincing evidence of active sarcoidosis. Furthermore, it can be helpful in the follow-up of the effect of supportive treatment.     

Unilateral proptosis in an immunocompetent man as the initial clinical manifestation of systemic Hodgkin disease

OBJECTIVE: Orbital involvement in Hodgkin disease (HD) is rare. Previously reported cases of HD in patients without the acquired immunodeficiency syndrome have been diagnosed late in the course of established systemic disease. The authors describe an immunocompetent man with orbital infiltration as the initial manifestation of systemic HD. DESIGN: Case report. PARTICIPANTS: A 47-year-old man with acute progressive, painless proptosis of the left eye is described. INTERVENTION: A well-defined, homogeneous soft tissue mass of the superior left orbit was evident on computed tomography, and an incisional biopsy of the nontender mass was performed. RESULTS: The histopathologic findings were characteristic of HD. Systemic investigations showed clinical stage 3A HD. Ten months after completion of hybrid chemotherapy, the patient remained in complete remission from his HD. CONCLUSION: Hodgkin disease presenting initially in the orbit of a patient with the acquired immunodeficiency syndrome has been described previously. The patient presented in this report is the first case of HD in the recent English literature with the initial manifestation in the orbit of an otherwise immunocompetent patient.     

Computed tomography in Graves' ophthalmopathy

The CT scan with the 160 x 160 matrix demonstrated both the normal orbital anatomy and the abnormal orbital anatomy of Graves' ophthalmopathy in great detail. In Graves' ophthalmopathy, the cardinal pathologic feature of extraocular muscle enlargement was accurately reflected on the CT scan and was a distinctive, diagnostically reliable finding. Enlargement of the medial and lateral rectus muscles and of the apex of the muscle cone were the most consistent findings. The severity of the CT scan abnormalities correlated well with clinical severity. Because muscle cone abnormality was observed characteristically in those patients with sight loss, we suggest that pressure by the extraocular muscles on the optic nerve may contribute to visual acuity loss in this disease.     

Combined paresis and restriction of the extraocular muscles after orbital fracture: a study of 16 patients

Sixteen patients with combined paresis and restriction of extraocular muscle(s) orbital fracture repair were studied before and after in order to determine the clinical features and management of such patients. All 16 patients showed limited ductions of the involved eye in the field of action of the entrapped, paretic muscle and of the antagonist muscle after orbital fracture. Single extraocular muscles (13 patients) and two extraocular muscles (three patients) were demonstrated adjacent to the fracture site on orbital computed tomography (CT). In three patients prior to orbital surgery, a deviation in primary position was present. After fracture repair with release of the entrapped muscle in all patients, evidence of paresis of the muscle was demonstrated by underaction in its field of action and overaction in the field of its antagonist. There was a resultant manifest tropia or phoria in the primary position. In seven patients, the paresis gradually improved with no tropia and little diplopia in the functional fields of gaze. Three patients had minimal deviations and required no further treatment. Six patients with significant deviations required prisms (three patients) or strabismus surgery (three patients). The latter three patients had two muscles involved. Results of this study demonstrate that the ophthalmologist must appropriately diagnose patients with paresis and restriction of an extraocular muscle and counsel them that "new" diplopia may occur after orbital fracture repair and that this diplopia may require additional therapy.     

Temporary luminal arteriotomy seal for bypass grafting

OBJECTIVE: To compare the effects of botulinum toxin on static and dynamic aspects of eye movements, and thereby elucidate the mechanisms of its action on eye muscles. BACKGROUND: Laboratory evidence indicates that static alignment and saccades are subserved by different extraocular muscle fiber types, and botulinum toxin may cause specific dysfunction of the fibers controlling static alignment. Diplopia is a well-known side effect of periorbital botulinum toxin injections in humans, and may be a clinical correlate of the laboratory findings. METHODS: Search coil recording of eye movements was performed in one patient with systemic botulism, and in three patients with diplopia following periorbital injection of botulinum toxin A. RESULTS: In the patient with acute botulism, eye movement alignment, range, and saccadic velocity profiles were abnormal. In three patients with iatrogenic diplopia, static alignment was abnormal but movement range and saccadic velocities were within normal limits. Edrophonium improved the range of movements and saccadic velocities in the patient with systemic botulism but was ineffective in reversing ocular misalignment in the one iatrogenic patient to whom it was administered. CONCLUSIONS: Precise alignment is subserved by orbital singly innervated muscle fibers, and the effects of botulinum toxin are greatest on these fibers. This predilection is apparent when the toxin dose is very small, as must have been the case in our patients with iatrogenic diplopia. The lack of a response to edrophonium probably reflects structural damage to muscle fibers. In contrast, larger doses of toxin produce an acute dysfunction of all extraocular muscle fiber types, which is responsive to edrophonium and consequently reflects partial blockade at the neuromuscular junction.     

Strategies for improving blood pressure control

OBJECTIVE: To investigate the sensitivity of echography vs magnetic resonance imaging (MRI) or computed tomography (CT) for detecting extraocular extension of choroidal malignant melanoma. DESIGN AND SETTING: Retrospective review at a university referral center. PARTICIPANTS: All patients with histopathologically proven extraocular extension of choroidal malignant melanoma evaluated at the Bascom Palmer Eye Institute, Miami, Fla, between January 1, 1988, and August 31, 1997. INTERVENTIONS: The histopathology records of all patients who underwent enucleation for choroidal malignant melanoma or biopsy of an extraocular nodule during the study period were reviewed. The records and imaging studies of patients who were found to have extraocular extension of choroidal malignant melanoma were then reviewed to determine the sensitivity of preoperative echography vs MRI or CT for detecting extraocular tumor extension. RESULTS: A review of 297 histopathology records identified 13 patients with extraocular extension of choroidal malignant melanoma. Three patients with only microscopic extraocular tumor extension were excluded from the study. Of the remaining 10 patients, all underwent ocular echography preoperatively, 5 underwent orbital MRI, and 2 underwent orbital CT scanning to evaluate for extraocular extension of tumor. Extraocular tumor extension was demonstrated in 10 patients (100%) with echography and in 2 (29%) of 7 patients with MRI (2 of 5 patients) or CT (0 of 2 patients). In no instance did MRI or CT demonstrate extraocular tumor extension that was not identified with echography. CONCLUSION: At this institute, ocular echography is more sensitive than MRI or CT for the detection of extraocular extension of choroidal malignant melanoma.     

Idiopathic orbital myositis

Idiopathic orbital myositis is a subtype of nonspecific orbital inflammation primarily involving the extraocular muscles. It occurs most frequently in young to middle-aged adults with a 2 to 1 female predominance. The cardinal clinical feature is orbital pain exacerbated by eye movement. Other common findings include diplopia, proptosis (which is generally minimal), conjunctival injection and chemosis, and periorbital edema. Thyroid eye disease is commonly confused with orbital myositis, but the latter is characterized by a more acute onset, more severe pain, and a rapid response to systemic corticosteroid therapy. Echography and CT scanning reveal enlarged muscle bellies and thickened tendons, with low internal reflectivity echographically. Although the cause of orbital myositis is unknown, an immune-mediated pathophysiologic mechanism is likely. This review summarizes recent findings regarding the epidemiology, diagnosis, pathophysiology, and treatment of idiopathic orbital myositis.     

Intracranial mass as single manifestation of sarcoidosis

Neurological involvement in sarcoidosis occurs in 5-10% of cases and may adopt a great variety of forms, included space-occupying cerebral masses. The presence of these masses as single G manifestation of the disease, with no evidence of systemic involvement, is uncommon. In a review of the literature we found 15 reported cases and we report here the case of a 74 year-old woman with a parietooccipital mass histologically diagnosed with sarcoidosis, with no evidence of systemic involvement. In most cases masses are supratentorial, evidenced by neuroradiological procedures and diagnosed by means of pathological investigation. Corticosteroids are the therapy of choice because of the favorable outcome of cases so treated.     

Prevalence and management of elevated intraocular pressure in patients with Graves' orbitopathy

AIMS: To investigate the prevalence and to discuss the necessity of treating elevated intraocular pressures (IOP) in patients with Graves' orbitopathy (GO). In addition, to study the effects of orbital decompression and extraocular muscle surgery on IOP. METHODS: The records of consecutive patients with GO referred in a 5 year period were studied and those selected, in which glaucoma medication had been prescribed, or a diagnosis of primary open angle glaucoma (POAG) or of ocular hypertension (> or = 22 mm Hg) (OH) had been made. The necessity of treating these patients with glaucoma medication was questioned and the effects of corticosteroids, orbital decompression, and extraocular muscle surgery on the IOP were evaluated. RESULTS: Of 482 patients with GO, 23 (4.8%) met the inclusion criteria. Four patients (0.8%) had POAG, four had elevated IOPs and visual field defects consistent with dysthyroid optic neuropathy, and 15 (3.1%) had only elevated IOPs. Five patients with OH showed a permanent drop of IOP after orbital decompression, two had a marked decrease of their IOP after recession of the inferior rectus muscle. CONCLUSIONS: POAG has the same prevalence in the general Dutch population as in the GO subgroup. The combination of elevated IOPs and visual field defects in GO patients may be attributed to other mechanisms than obstructed aqueous outflow in the trabecular meshwork and should be treated accordingly. Orbital decompression and extraocular muscle surgery may lower the IOP in patients with GO.     

Diagnosis and surgical management of strabismus associated with thyroid-related orbitopathy

BACKGROUND: In the healing phase of thyroid-related orbitopathy, fibrosis and contracture of the extraocular muscles may result in restrictive ocular motility. Ocular misalignment may occur in both eyes and along three different axes of rotation. Successful surgical treatment depends on precise identification of the muscles that are restricting motility and producing the misalignment. METHODS: Between 1980 and 1994, 22 patients were surgically treated for restrictive strabismus caused by thyroid-related orbitopathy. Preoperatively, all patients underwent complete neuroophthalmic, oculoplastic, and orthoptic examinations. Analysis of ductions, measurement of torsion, and the use of monocular neutralization techniques were essential additions to the usual motility exam. Patients were placed into diagnostic categories based on the clinical pattern of extraocular muscle restriction. Adjustable recessions were done for all initial surgeries. RESULTS: Patients with unilateral inferior rectus involvement or with ipsilateral inferior rectus-contralateral superior rectus involvement had large vertical deviations (equal to or > 20 prism diopters [delta]). Patients with bilateral inferior rectus involvement had small vertical deviations (< 20 delta). Excyclotorsion correlated strongly with the presence of tight inferior recti. Vertical comitance (upgaze versus downgaze measurement of equal to or < 15 delta) correlated with the ipsilateral inferior rectus-contralateral superior rectus pattern of involvement. Vertical incomitance (upgaze versus downgaze measurement of > 15 delta) correlated with unilateral inferior rectus involvement. Eighteen of 22 patients had excellent postoperative alignment and elimination of diplopia in functional positions of gaze. Those with less favorable results developed reversal of the hypertropia and exotropia in downgaze. Sixteen out of 19 patients who underwent inferior rectus recession had induced inferior eyelid retraction. CONCLUSION: Different combinations of extraocular muscle restriction in this series of patients produced characteristic patterns of misalignment. Appropriate, adjustable, strabismus surgery was successful in restoring binocular vision in 21 out of 22 patients with a minimum of complications.     

Mutations of the RET-GDNF signaling pathway in Ondine''s curse

Sarcoidosis is a multi-systemic granulomatous disease of unknown cause. It commonly involves lymph nodes, lungs, eyes, and skin. Cardiac sarcoid may be isolated, or associated with systemic involvement. Cardiac involvement is found in 20-50% of autopsied patients with sarcoidosis. However, it only gives rise to clinical manifestations in about 5% of patients. Cardiac involvement by sarcoid has been reported to manifest as complete heart block, papillary muscle dysfunction, congestive heart failure, pericarditis and/or effusion, conduction abnormality or arrhythmia, chest pain, and sudden death. The most common site of involvement is the interventricular septum base, which when involved may lead to heart block or arrhythmia. We report a case of sudden death in a 33-year-old male with a history of surgically repaired congenital heart disease. Although his congenital heart disease was originally postulated to be important in his death, autopsy examination revealed cardiac sarcoid with prominent involvement of the conduction system.     

Orbital myopathy in metastatic malignant paraganglioma: a paraneoplastic syndrome?

BACKGROUND: Several disease entities of the orbit are known which display an autoimmunological pathogenesis. Among these disease entities the thyroid-related immune orbitopathy and the idiopathic orbital inflammatory syndrome (orbital pseudotumor). The pathogenesis of these diseases is not well understood; however, an autoimmune inflammatory reaction histologically characterized by a chronic inflammatory cell infiltrate has been suggested. One care of orbital pseudotumor presumably of paraneoplastic origin occurring in a patient with a non-Hodgkin's lymphoma has been reported. We report a patient with a metastatic paraganglioma and a proptosis secondary to enlargement of all extraocular muscles. CASE REPORT: A 52-year-old woman presented with a recent decline in visual clarity of her left eye and diplopia. Two years ago, the diagnosis of a hormonally inactive paraganglioma has been made. Ophthalmologic examination displayed a lagophthalmos caused by a right-sided facial paralysis secondary to a cerebral metastasis and a bilateral enlargement of all extraocular muscles. Curative therapy for the paraganglioma was not available. Palliative therapy as well as a high-dose corticosteroid therapy for the orbitopathy was refused by the patient. The patient died 18 months later. DISCUSSION: Our patient developed orbital changes similar to thyroid-related immune orbitopathy; however, there was no dysfunction of the thyroid. We believe that the orbital changes were a paraneoplastic immune reaction caused by the metastatic paraganglioma. We recommend that in patients who do not conform to the prototypical profile of well-known orbital disease entities should undergo further testing to exclude a remote neoplasm.     

Sarcoidosis in a cicatrix: apropos of 5 cases

The authors report 5 cases of sarcoidosis developed on scars. Sarcoidosis may be isolated (1 case); it may precede (1 case) or accompany systemic sarcoidosis, or occur during a relapse (3 cases). Dermatologists who observe cicatricial changes always suspect sarcoidosis. It is therefore important that physicians should examine the scars of their patients with suspected sarcoidosis, since biopsy of these scars is easily performed, confirms the diagnosis and avoids more invasive explorations.     

Chronic pancreatitis: a complication of sarcoidosis?

Gastrointestinal localizations of sarcoidosis are rare. A total of 14 cases of pancreatic involvement in sarcoidosis has been reported previously. We report here a case of late onset idiopathic chronic pancreatitis diagnosed at the same time as sarcoidosis with liver, colonic, renal, mediastinal and neurologic involvement in a 56-year-old man. This case further suggests a possible relationship between idiopathic chronic pancreatitis and multisystem diseases.