Abstract:Purpose
To report a case of external ophthalmoplegia due to an uncommon form of amyloidosis exclusively affecting the lateral rectus muscle, and to discuss the clinical manifestation, diagnostic challenges, and management pitfalls of isolated amyloidosis in the extraocular muscle.
Observations
A 64-year-old woman presented with diplopia in her left gaze lasting for six months. She had orthophoria in the primary position and abduction limitation in the left eye. Routine … Show more
“…In a case report of systemic lupus erythematosus, the MR and IR were involved, 62 and in another case report, the LR was solely involved 63 . In amyloidosis, the horizontal rectus muscles seem most predominantly affected 52 …”
Section: Clinical and Radiological Clues From The Different Combinati...mentioning
confidence: 97%
“…63 In amyloidosis, the horizontal rectus muscles seem most predominantly affected. 52 In hereditary muscle disease with orbital muscle involvement the LPS is most frequently affected. In CPEO, elevation limitation due to weakness of the SR is the second most present ocular symptom.…”
Section: Clinical and Radiological Clues From The Different Combinati...mentioning
confidence: 99%
“…It also includes vascular diseases such as aneurysms and dissections, neoplastic diseases such as lymphoma and metastases, infectious diseases including tuberculosis and extended bacterial infections and other inflammatory diseases like Tolosa–Hunt syndrome (for a wider differential see Montagnese et al and Gladstone et al). 42 , 61 Rarely, systemic auto‐inflammatory diseases may present with a painful ophthalmoplegia, including amyloidosis, 52 systemic lupus erythematosus, 62 , 63 sarcoidosis 64 and Crohn's disease. 51 , 65 , 66 Therefore, a systemic diagnostic evaluation in inflammatory orbital diseases is important, as a systemic disease should be thoroughly excluded before labelling the disease idiopathic.…”
Section: Five Patterns Of Clinical Presentation Of Ophthalmoparesis A...mentioning
Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the involvement pattern and imaging features of extra‐ocular muscles (EOM). Dysfunction of EOM including the levator palpebrae can be due to muscle weakness, anatomical restrictions or pathology affecting the innervation. A comprehensive literature review was performed to find clinical and imaging clues for the diagnosis and follow‐up of ptosis and ophthalmoparesis. We used five patterns as a framework for differential diagnostic reasoning and for pattern recognition in symptomatology, EOM involvement and imaging results of individual patients. The five patterns were characterized by the presence of combination of ptosis, ophthalmoparesis, diplopia, pain, proptosis, nystagmus, extra‐orbital symptoms, symmetry or fluctuations in symptoms. Each pattern was linked to anatomical locations and either hereditary or acquired diseases. Hereditary muscle diseases often lead to ophthalmoparesis without diplopia as a predominant feature, while in acquired eye muscle diseases ophthalmoparesis is often asymmetrical and can be accompanied by proptosis and pain. Fluctuation is a hallmark of an acquired synaptic disease like myasthenia gravis. Nystagmus is indicative of a central nervous system lesion. Second, specific EOM involvement patterns can also provide valuable diagnostic clues. In hereditary muscle diseases like chronic progressive external ophthalmoplegia (CPEO) and oculo‐pharyngeal muscular dystrophy (OPMD) the superior rectus is often involved. In neuropathic disease, the pattern of involvement of the EOM can be linked to specific cranial nerves. In myasthenia gravis this pattern is variable within patients over time. Lastly, orbital imaging can aid in the diagnosis. Fat replacement of the EOM is commonly observed in hereditary myopathic diseases, such as CPEO. In contrast, inflammation and volume increases are often observed in acquired muscle diseases such as Graves' orbitopathy. In diseases with ophthalmoparesis and ptosis specific patterns of clinical symptoms, the EOM involvement pattern and orbital imaging provide valuable information for diagnosis and could prove valuable in the follow‐up of disease progression and the understanding of disease pathophysiology.
“…In a case report of systemic lupus erythematosus, the MR and IR were involved, 62 and in another case report, the LR was solely involved 63 . In amyloidosis, the horizontal rectus muscles seem most predominantly affected 52 …”
Section: Clinical and Radiological Clues From The Different Combinati...mentioning
confidence: 97%
“…63 In amyloidosis, the horizontal rectus muscles seem most predominantly affected. 52 In hereditary muscle disease with orbital muscle involvement the LPS is most frequently affected. In CPEO, elevation limitation due to weakness of the SR is the second most present ocular symptom.…”
Section: Clinical and Radiological Clues From The Different Combinati...mentioning
confidence: 99%
“…It also includes vascular diseases such as aneurysms and dissections, neoplastic diseases such as lymphoma and metastases, infectious diseases including tuberculosis and extended bacterial infections and other inflammatory diseases like Tolosa–Hunt syndrome (for a wider differential see Montagnese et al and Gladstone et al). 42 , 61 Rarely, systemic auto‐inflammatory diseases may present with a painful ophthalmoplegia, including amyloidosis, 52 systemic lupus erythematosus, 62 , 63 sarcoidosis 64 and Crohn's disease. 51 , 65 , 66 Therefore, a systemic diagnostic evaluation in inflammatory orbital diseases is important, as a systemic disease should be thoroughly excluded before labelling the disease idiopathic.…”
Section: Five Patterns Of Clinical Presentation Of Ophthalmoparesis A...mentioning
Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the involvement pattern and imaging features of extra‐ocular muscles (EOM). Dysfunction of EOM including the levator palpebrae can be due to muscle weakness, anatomical restrictions or pathology affecting the innervation. A comprehensive literature review was performed to find clinical and imaging clues for the diagnosis and follow‐up of ptosis and ophthalmoparesis. We used five patterns as a framework for differential diagnostic reasoning and for pattern recognition in symptomatology, EOM involvement and imaging results of individual patients. The five patterns were characterized by the presence of combination of ptosis, ophthalmoparesis, diplopia, pain, proptosis, nystagmus, extra‐orbital symptoms, symmetry or fluctuations in symptoms. Each pattern was linked to anatomical locations and either hereditary or acquired diseases. Hereditary muscle diseases often lead to ophthalmoparesis without diplopia as a predominant feature, while in acquired eye muscle diseases ophthalmoparesis is often asymmetrical and can be accompanied by proptosis and pain. Fluctuation is a hallmark of an acquired synaptic disease like myasthenia gravis. Nystagmus is indicative of a central nervous system lesion. Second, specific EOM involvement patterns can also provide valuable diagnostic clues. In hereditary muscle diseases like chronic progressive external ophthalmoplegia (CPEO) and oculo‐pharyngeal muscular dystrophy (OPMD) the superior rectus is often involved. In neuropathic disease, the pattern of involvement of the EOM can be linked to specific cranial nerves. In myasthenia gravis this pattern is variable within patients over time. Lastly, orbital imaging can aid in the diagnosis. Fat replacement of the EOM is commonly observed in hereditary myopathic diseases, such as CPEO. In contrast, inflammation and volume increases are often observed in acquired muscle diseases such as Graves' orbitopathy. In diseases with ophthalmoparesis and ptosis specific patterns of clinical symptoms, the EOM involvement pattern and orbital imaging provide valuable information for diagnosis and could prove valuable in the follow‐up of disease progression and the understanding of disease pathophysiology.
“…Depositions in the extraocular muscle are rare: only 1.3% of orbital amyloidosis occurs in the extraocular muscles [52]. All muscles may be affected and can show fusiform enlargement with tendon sparing or irregular nodularity [53,54]. MR shows T2 hypointense foci and T1 hypointense or isointense foci and contrast enhancement.…”
Purpose of Review
To provide the radiologist with tools to recognize findings atypical for Graves’ ophthalmopathy and differentiate between the most important and common alternative causes of extraocular muscle enlargement on CT and MR imaging.
Recent findings
We introduce five ‘red flags’ representing features that are atypical for Graves’ ophthalmopathy: unilateral disease, atypical pattern of muscle involvement, adjacent structure involvement, restricted diffusion, and absence of pain.
Summary
About 95% of the cases with extraocular enlargement are due to Graves’ ophthalmopathy, other causes are less well known and recognized. The ‘red flags’ may aid in recognizing and suggesting alternative diagnoses.
Extraocular muscle enlargement can occur secondary to a range of orbital and systemic diseases. Although the most common cause of extraocular muscle enlargement is thyroid eye disease, a range of other inflammatory, infective, neoplastic, and vascular conditions can alter the size and shape of the extraocular muscles. Imaging with computed tomography and magnetic resonance imaging plays an essential role in the workup of these conditions. This article provides an image-rich review of the wide range of pathology that can cause enlargement of the extraocular muscles.
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