Structural focal temporal lobe seizures in a child with lipoproteinosis.

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.