Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epileptic nystagmus (EN) is a rare form of nystagmus that occurs only during epileptic seizures. We report a case in which EN was first noted in an 8 year-old boy. Neuro-imaging was normal. Sharp waves from the left occipital lobe characterised the interictal EEG. Ictal video-EEG showed the aspects of electric seizures during clinical manifestations e.g. nystagmus. Ambulatory EEG displayed numerous diurnal and nocturnal seizures, but exclusively in REM sleep. After two weeks of sodium valproate treatment, the seizures, EEG focus spikes and nystagmus, as well as the squint, disappeared. During a two-year follow-up the child had no further seizures, EEG was normal and the school performance was unaffected. This case has the main features of benign epilepsy, although there are unusual features such as epileptic nystagmus, permanent squint, reduction of EEG paroxysmal abnormalities during NREM, and the presence of seizures during REM sleep. The observation and the significance of EN are discussed with reference to the literature.
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PMID:Epileptic nystagmus: electroclinical study of a case. 1131 21

We describe a 2-year-old baby affected by Smith-Magenis syndrome (SMS), due to 17p11.2 deletion, who presented repeated episodes of hemoglobin desaturation during REM sleep. The boy, aged 14 months, presented a phenotype characterized by psychomotor delay, right posterior plagiocephaly, telecanthus, strabismus, upslanting palpebral fissures, broad hypoplastic nasal bridge, short philtrum, deep ring shaped skin creases around the limbs, proximal syndactyly, bilateral hypoacusia. Polysomnographic (PSG) recording showed episodes of REM-related hypoventilation (hemoglobin desaturations without apneas or hypopneas). Sleep disorders are present in almost all the cases of SMS, but very few reports describe the sleep-related respiratory patterns. The finding of REM hypoventilation in SMS does not allow an unequivocal interpretation. It could reflect a subclinical restrictive respiratory impairment or, alternatively, an impairment of central respiratory control during REM sleep. In SMS children, respiratory abnormalities during sleep, and in particular during REM sleep, may cause sleep disruption, reduction of time spent in REM sleep, and daytime sleepiness. We therefore suggest that some sleep abnormalities described in SMS could be consequent to Sleep Disordered Breathing, and in particular to REM hypoventilation. Sleep studies in SMS should include the recording of respiratory parameters.
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PMID:Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome). 2018 11

Moebius syndrome (MS) is a congenital syndrome characterized by unilateral or bilateral aplasia of the VI and VII cranial nerves, with consequent convergent strabismus and bilateral peripheral facial paralysis. This syndrome might be associated with diurnal excessive sleepiness and muscular hypotony, mimetizing in this manner, narcolepsy. The diagnostic criteria for narcolepsy depend on the presence of REM sleep during the day. As with patients with MS we do not have ocular movements due to the VI nerve paralysis, the absence of horizontal ocular movements might make it difficult to confirm narcolepsy in these patients. The common clinical characteristics of these patients are due to a possible impairment of the same structures that are affected in the central nervous system. However, the mechanism by which it occurs remains to be fully understood. Further electrophysiological researches are necessary to better clarify the association of these two diseases. The objective of this dissertation is to describe and discuss a case of Moebius syndrome with diurnal excessive sleepiness as a differential diagnosis for narcolepsy.
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PMID:Moebius syndrome and narcolepsy: A case dissertation. 2648 99