Infranuclear Ophthalmoplegia

2019 ◽  
pp. 127-132
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak

Infranuclear ophthalmoplegia is characterized by global weakness of the extraocular and levator muscles. It has a broad differential diagnosis that varies depending on the tempo of onset. In this chapter, we begin by describing how to differentiate nuclear-infranuclear ophthalmoplegia from supranuclear ophthalmoplegia at the bedside. We next list the common causes of acute onset infranuclear ophthalmoplegia, which include Miller Fisher syndrome, Guillain-Barré syndrome, stroke, and ocular myasthenia. We then list the common causes of chronic progressive infranuclear ophthalmoplegia, which include mitochondrial disorders, oculopharyngeal muscular dystrophy, and myotonic dystrophy. We discuss the clinical features and diagnostic workup of chronic progressive external ophthalmoplegia due to mitochondrial disease. Lastly, we briefly discuss the management of ptosis and diplopia in the setting of chronic progressive external ophthalmoplegia.

2019 ◽  
pp. 133-136
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak

Internuclear ophthalmoplegia is characterized by an ipsilateral adduction deficit that can be overcome with convergence. It is caused by a lesion affecting the medial longitudinal fasciculus in the brainstem tegmentum. In this chapter, we begin by reviewing the clinical features of internuclear ophthalmoplegia. We next list the common causes of internuclear ophthalmoplegia, which include demyelination, stroke, tumors, and congenital hindbrain anomalies. We then discuss other potential causes of an adduction deficit that can mimic internuclear ophthalmoplegia, which include ocular myasthenia and chronic progressive external ophthalmoplegia, and describe strategies to help diagnose these at the bedside. Lastly, we briefly discuss the treatment approach for internuclear ophthalmoplegia.


Author(s):  
Shirley H. Wray

emphasizes the clinical importance of a careful patient history detailing the onset of ptosis, its variability, and its progression. A pattern of ocular and generalized muscle weakness is a central diagnostic attribute of impaired nerve conduction due to disease of the neuromuscular junction. Generalized myasthenia gravis, ocular myasthenia gravis, MuSK-myasthenia gravis, and a case of the Lambert-Eaton syndrome illustrate the spectrum of disorders of neuromuscular transmission. The syndrome known as chronic progressive external ophthalmoplegia is by far the most common of the mitochondrial myopathies progressing to the multisystem failure that is characteristic of the Kearns-Sayre syndrome. A case of Kearns-Sayre syndrome followed for 34 years is a unique case study. Two inherited forms of myopathy, oculopharyngeal muscular dystrophy and myotonic dystrophy, are included, together with a patient with the Guillain-Barré syndrome variant, Fisher syndrome. These disorders should always be considered in the differential diagnosis of bilateral progressive ptosis.


2018 ◽  
Vol 57 (14) ◽  
pp. 2057-2060 ◽  
Author(s):  
Tatsuya Ueno ◽  
Ryoya Kimura ◽  
Tomoya Kon ◽  
Rie Haga ◽  
Haruo Nishijima ◽  
...  

2019 ◽  
pp. 29-34
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak

There is a broad differential diagnosis for bilateral optic neuropathies, including inflammatory, ischemic, compressive, traumatic, nutritional, toxic, and inherited causes. In this chapter, we begin by discussing the approach to the patient who has bilateral symmetric optic neuropathies. We next review the genetic basis, clinical features, and natural history of autosomal dominant optic atrophy. We list other deficits that can occur in up to 20% of patients with this condition, which can include sensorineural hearing loss, ataxia, myopathy, peripheral neuropathy, spastic paraparesis, and chronic progressive external ophthalmoplegia. Lastly, we discuss the evaluation and management approach for autosomal dominant optic atrophy.


2021 ◽  
Vol 9 ◽  
pp. 2050313X2098411
Author(s):  
Kristyna Cleminson ◽  
Peter R Hull ◽  
Emma Price ◽  
Peter J Green

We represent a pediatric case of the congenital disorder caused by zinc malabsorption, acrodermatitis enteropathica, presenting with acute onsetof blisters. Although blisters can be seen in this condition, it is not always a key feature and can therefore be overlooked when considering a differential diagnosis of acute blistering in infancy. We therefore review the common and less common features of this cutaneous eruption as well as provide an extensive differential diagnosis for acute blistering in infancy. We also emphasize the importance of lifelong treatment with zinc supplementation in these children.


2019 ◽  
pp. 111-114
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak

Binocular horizontal diplopia with a unilateral abduction deficit is often due to sixth nerve palsy. However, it can also be caused by other conditions, such as medial rectus muscle restriction in thyroid eye disease. In this chapter, we begin by reviewing the differential diagnosis of an abduction deficit. We next list the common causes of an isolated unilateral sixth nerve palsy and bilateral sixth nerve palsy. We then discuss our approach to neuroimaging for sixth nerve palsy, as this remains a controversial topic. Lastly, we discuss the prognosis and management of sixth nerve palsy, with a focus on sixth nerve palsy due to microvascular ischemia.


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