Structural Focal Temporal Lobe Seizures in a Child With Lipoproteinosis

bacground: lipoproteinosis is a rare autosomal recessive disorder caused by a mutation in a gene (ECMI) 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.