Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case
M Santucci1, G Ambrosetto, M C Scaduto
1Department of Child Neurology and Psychiatry, Neurological Institute, University of Bologna, Italy. santucci@neuro.unibo.it
Insights
Infantile neuroaxonal dystrophy (INAD) patients may experience both epileptic seizures and non-epileptic spasms. Video-polygraphy is crucial for differentiating these motor events in INAD for accurate diagnosis and treatment.
Area of Science:
- Neurology
- Pediatric Neurology
- Neurophysiology
Background:
- Infantile neuroaxonal dystrophy (INAD) is a rare, progressive neurodegenerative disorder.
- Patients often present with severe motor, visual, and cognitive impairments.
Observation:
- A 7.5-year-old girl with INAD exhibited progressive deterioration, tetraplegia, strabismus, nystagmus, optic atrophy, and dementia.
- From 5.5 years, she experienced paroxysmal tonic events.
Findings:
- Video-polygraphic recordings identified two distinct motor event types: epileptic tonic seizures with EEG changes and autonomic alterations, and non-epileptic tonic spasms without EEG modifications.
- Both event types shared similar minimal tonic contractions of the upper extremities.
Implications:
- Accurate classification of paroxysmal events in INAD is essential for appropriate patient management.
- Video-polygraphic studies are indispensable for distinguishing epileptic seizures from non-epileptic spasms in INAD.
- This differentiation guides targeted therapeutic strategies in children with INAD.
Abstract:
A 7.5-year-old girl, with infantile neuroaxonal dystrophy (INAD), showed a gradual deterioration from 16 months; at age 5 years she was bedridden, with severe tetraplegia, strabismus, nystagmus and optic atrophy, and dementia. From age 5.5 years, she had paroxysmal tonic events. Videopolygraphic recordings disclosed two different kinds of motor events: (a) epileptic tonic seizures, in wakefulness and sleep, associated with autonomic changes and ictal EEG discharges; and (b) nonepileptic prolonged clusters of brief tonic spasms, without ictal modifications of the EEG. Both motor events were characterized by a minimal and clinically similar tonic contraction of the upper extremities. Video-polygraphic studies are mandatory for a correct paroxysmal event classification and treatment in INAD patients.
