A mono-organ <i>POLG1</i>-related mitochondrial DNA depletion syndrome must be confirmed by quantitative real-time polymerase chain reaction (PCR) or droplet digital PCR. [PDF]
Transl PediatrFinsterer J, Zarrouk S.
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Cranial Neuropathies Associated With Pediatric Brain Tumors: Evaluation of Pediatric Otolaryngology Referral Patterns and Interventions. [PDF]
CureusBady EE +4 more
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Mitochondrial Genetic Diseases and Ophthalmic Manifestations: Molecular Pathophysiology, Genetics, and Clinical Management. [PDF]
Int J Mol SciAbu-Amero KK.
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Ganglioside Antibodies as Formidable Neurologic Mimickers: A Case Report of Dual Anti-GQ1b and Asialo-GM1 Antibody Syndrome. [PDF]
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Case Report: Anti-GQ1b antibody-positive overlap syndrome: a pediatric case involving the brainstem, spinal cord, and peripheral nerves. [PDF]
Front ImmunolZhang SJ, Zhu W, Ying QL, Ge HJ, Yu WJ.
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A brainstem lesion of any type that involves the medial longitudinal fasciculus (MLF) can cause internuclear ophthalmoplegia (INO). This primarily affects conjugate horizontal gaze and classically manifests as impaired adduction ipsilateral to the lesion and abduction nystagmus contralateral to the lesion.
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, 2015 Ophthalmoplegia is usually chronic, and therefore diplopia is not a feature. There is enough time for the brain to suppress one image. It is amazing how much of impairment of eye movement has to occur before the patient becomes concerned or considers it as abnormal.
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