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.
Keywords: EEG; cutaneous and mucosal hyalinosis or Urbach-Wiethe syndrome; lipoproteinosis; temporal seizure.
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