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Updated: Apr 20, 2026

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
Structural focal temporal lobe seizures in a child with lipoproteinosis
Martina Balestri1, Simona Cappelletti2, Massimiliano Valeriani3
1Neurology Division, Bambino Gesù Children Hospital, IRCCS, Rome, Italy; PhD School in Applied Neurological Sciences, University of Siena, Italy.
Background:
Lipoproteinosis is a rare autosomal recessive disorder caused by a mutation in a gene (ECM1) on chromosome 1q21. Alterations of membrane and vessels in the dermal-epidermal junction represent the pathologic background of the disease. Calcification in the temporal lobes and hippocampi are common and may be associated with epileptic seizures.
Patient Description:
We describe a 7-year-old girl with lipoproteinosis who presented with hoarseness, typical skin lesions, and seizures.
Results:
Video electroencephalography demonstrated focal temporal lobe seizures. Intelligence quotient was normal, but psychologic tests revealed depressed mood. Neuroimaging revealed bilateral mesial temporal lobe calcifications.
Conclusions:
The report reveals that the temporal lobe calcifications and the consequent epileptic seizures can appear even very early. The psychological signs may reflect limbic system dysfunction.
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