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Case Studies | Psychiatry | India | Volume 11 Issue 12, December 2022 | Popularity: 4.5 / 10
A Typical Case of Jeavons Syndrome with Intellectual Disability
Dr. Sushmitha Anantha Murthy
Abstract: Jeavons syndrome is a rare, idiopathic form of reflex epilepsy, with a childhood onset (2 to 14 yrs) and a symptom peak at 6-8 years of age. The hallmark features are eyelid myoclonia (EM) with or without absences, electroencephalography paroxysms and photosensitivity. Eyelid myoclonia consists of marked jerking of eyelids often with jerky upward deviation of eyeballs and retropulsion of head. This may be followed by mild impairment of consciousness (brief absences). The seizures are brief and characteristically precipitated by eyelid closure several times a day, in presence of bright unflickering light. The main diagnostic procedure is Video-EEG where young untreated patients show photoparoxysmal discharges induced by photic stimulation. The prevalence is unknown and genetic studies unremarkable, but Jeavons syndrome appears to represent around 7-8% of all idiophatic generalized epilepsies (IGEs) and has a slight female preponderance. Generalized tonic-clonic seizures occur in most patients, but the frequency of the seizures is low. Mental development is usually normal but mild to moderate intellectual deficit has been reported in some cases. Here we present a 14 yr old female, born out of consanguinous marriage, normal delivery and normal birth weight, with delayed milestones, taken to the department of paediatric neurology with complaints of eyelid fluttering more on exposure to sunlight, poor scholastic performance, behavioral issues including shouting spells, self-biting and frequent tantrums. On examination, moderate intellectual disability was present. During photic stimulation, patient had a clinical attack of eyelid fluttering and EEG showed frequent paroxysmal bursts of spike and slow waves. MRI brain showed normal study. Eyelid myoclonia is often missed or misdiagnosed as facial tics causing a delay in diagnosis and intervention. With early diagnosis and timely intervention frequency and severity of paroxysms can be significantly reduced.
Keywords: Jeavons syndrome, intellectual disability, seizures, EEG, childhood
Edition: Volume 11 Issue 12, December 2022
Pages: 1142 - 1143
DOI: https://www.doi.org/10.21275/SR221221001557
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