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Diagnosis and Differential Diagnosis
Published in Marc H. De Baets, Hans J.G.H. Oosterhuis, Myasthenia Gravis, 2019
In various myopathies, ptosis is slowly developing over years, bilateral, nearly symmetrical and rarely the chief complaint of the patient, except in the chronic progressive external ophthalmoplegia (CPEO). Confusing is the pseudoptosis in extrapyramidal disorders, especially at the onset of the Meige syndrome.135 These patients are not aware of active closure or spasm of the eyelids but report very fluctuating drooping of the eyelids. This may be influenced by “tricks,” such as laying down, vigorous chewing, manual work, or changing of environment. Their complaints are often worse in the course of the day and may react promptly but short-lasting to a new drug, e.g., pyridostigmine per os or Tensilon, as was my own experience. Not exceptionally some blepharospasm is also seen in MG patients with ptosis and the coexistence of MG and Meige has been reported.135
Clinical Manifestation of Mitochondrial Disorders in Childhood
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
Up to one-half of patients with fully-expressed form of the disease present with stroke-like episodes. The episodes are marked by seizures, visual field sensory loss, at least partially reversible aphasia, hemianopsia, and they are preceded with severe headaches resembling migraines in 70% of patients. Transient hemiplegia and hemianopsia can ensue and last for several hours or weeks, with eventual progres and permament results. The MRI neuroimaging shows affected areas that do not correspond to the distribution of classic major vessels and are asymmetric, impair predominantly the cortical areas of temporal, parietal, and occipital lobes, and can involve subcortical white matter (El-Hattab et al., 2015). Cognitive deficit usually features as mild intellectual disability. Patients with chronic progressive external ophthalmoplegia (CPEO) usually present with progressive paralysis of external eye muscles resulting in limited sidewards or upwards gaze. Patients can suffer with skeletal muscle tiredness and weakness with exercise intoleration, and pain. Additional symptoms can also by psychiatric (Fattal et al., 2007).
Neurological and Mental Disorders
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
Mutations in mitochondrial DNA (mtDNA) have been described, for example, in chronic progressive external ophthalmoplegia (CPEO)Kearns-Sayre syndromemyoclonus epilepsy with ragged red fibers (MERRF)mitochondrial encephalopathy with active acidosis and strokelike episodes (MELAS)another mitochondrial disease that, in addition to dementia, features ataxia, neurogenic muscle weakness, and retinitis pigmentosa, and is a maternally inherited condition
A review of surgical management of progressive myogenic ptosis
Published in Orbit, 2023
Royce B. Park, Sruti S. Akella, Vinay K. Aakalu
Chronic progressive external ophthalmoplegia (CPEO) represents a group of neuromyopathic disorders with features of progressive bilateral ptosis and symmetric deficits in ocular motility.34 CPEO can occur in isolation (Isolated CPEO) or as part of a systemic disease entity with more widespread manifestations (CPEO plus).35 The disease is thought to be the result of genetic mutations associated with mitochondrial dysfunction and defective oxidative phosphorylation.36 Symptoms can present at any age,37 but typically begin by the third decade of life.9 The orbicularis oculi, levator palpebrae superioris, and extraocular muscles are preferentially affected, leading to ophthalmic findings of progressively worsening bilateral ptosis and symmetric ophthalmoparesis.34 This worsening ptosis will often force patients to compensate by adopting a chin-up head position (“backward head tilt”),7 and is usually the symptom that brings patients to seek care.34 By contrast, frontalis muscle function remains relatively preserved, and deep forehead furrows may be visible due to constant contraction to raise the lids.6
Proceedings of the 44th Annual Upper Midwest Neuro-Ophthalmology Group Meeting
Published in Neuro-Ophthalmology, 2023
Negar Moheb, Adam Baim, Collin McClelland, John. J. Chen
Evan Jameyfield, MD, University of Illinois, presented a case of a 35-year-old male with bilateral ptosis from 16 years of age. He reported a strong family history of bilateral ptosis affecting both his mother and brother. Ophthalmological examination noted a bilateral margin-to-reflex distance 1 of −1 mm (which did not improve with ice pack testing) and a moderate elevation deficit bilaterally with milder limitations in other directions of gaze. His thyroid stimulating hormone level was normal and a myasthenia gravis panel was negative. A presumptive diagnosis of chronic progressive external ophthalmoplegia (CPEO) was made and the patient was referred for both cardiac and genetic work ups. Mitochondrial sequencing later revealed a novel variant of uncertain significance in TWNK, which encodes a mitochondrial deoxyribonucleic acid helicase. Neuromuscular evaluation was notable for symmetrically decreased deep tendon reflexes and sensation to pinprick, while EMG was consistent with a mitochondrial myopathy. Biopsy of the left biceps muscle was notable for ragged red fibres, which supported that the novel TWNK mutation was likely the cause of the myopathy. The patient was started on coenzyme Q10 supplementation and referred to oculoplastics for ptosis repair.
Improving post-natal detection of mitochondrial DNA mutations
Published in Expert Review of Molecular Diagnostics, 2020
Giulia Barcia, Zahra Assouline, Maryse Magen, Alessandra Pennisi, Agnès Rötig, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffann
Deletions of the mitochondrial genome have been identified in patients affected by Pearson syndrome (a fatal disorder involving the hematopoietic system and the exocrine pancreas in early infancy), progressive external ophthalmoplegia (PEO), and Kearns-Sayre syndrome (a chronic progressive external ophthalmoplegia, with atypical retinitis pigmentosa, proximal muscle weakness, cerebellar ataxia, and cardiac conduction defects) [12,13]. These deletions are of various size and map to different sites in the mtDNA, but a recurrent 5-kilobase deletion is frequently found (Figure 1(a)). Patients carry a unique mtDNA deletion, sometimes associated to duplications. The mtDNA deletion is usually restricted to the skeletal muscle in patients with clinical signs of KSS but is widely distributed in all tissues tested from patients with Pearson syndrome. A common strategy based on long-range PCR amplifying the complete mitochondrial genome (16.6 kb) using primers located in essential regions of the mitochondrial genome is commonly used for detection and characterization of mtDNA rearrangements. However, false positives are not rare and positive results should be confirmed by Southern-blot analysis. Novel NGS methods seem able to characterize efficiently mtDNA deletions and duplications but specific bioinformatic pipeline is required for NGS data analysis [14,15].