What is it? Case 3, 1988. Progressive myoclonic epilepsy, dementia, and blindness in a young girl

✍ Scribed by Joseph Jankovic; Dawna Armstrong; Niels L. Low; Isabelle Rapin

• Book ID: 102947147
• Publisher: John Wiley and Sons
• Year: 1988
• Tongue: English
• Weight: 769 KB
• Volume: 3
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.870030414

✦ Synopsis

A 5-year-old girl had been born after an uncomplicated pregnancy and normal delivery. She had normal development until 2V2 years of age when she had her first seizure characterized by eye and head turning to the right with momentary loss of consciousness. She also had "drop seizures" characterized by a fall with sudden loss of muscle tone. Electroencephalography (EEG) showed frequent bursts of high voltage spike and wave, polyspike, and slow-wave activity in the occipital and frontal leads bilaterally. At the same time she began to lose her language and motor skills and was noticed to be microcephalic. She became ataxic and lost bladder control. She also lost her vision. Her seizure disorder was first well controlled with valproate, clonazepam, ethosuximide, and phenytoin, but the generalized tonic-clonic and myoclonic seizures progressed despite therapeutic levels of these anticonvulsants. During the past 8 months she developed jerk-like, continuous involuntary movements of her limbs and trunk. These movements (videotape) cease during sleep but persist throughout the wakeful state. Feeding gastrostomy was performed because of progressive difficulties with swallowing.

Neurological Examination

The patient was awake but unresponsive to verbal command. Her eyes were open but she did not blink to visual threat or bright light. Funduscopic examination revealed bilateral chorioretinitis and mild optic atrophy. The pupils reacted

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Case report and videotape were submitted by Joseph Jankovic and Dawna Armstrong.