title: Structural focal temporal lobe seizures in a child with lipoproteinosis.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Neurology Division, Bambino Gesù Children Hospital, IRCCS, Rome, Italy; PhD School in Applied Neurological Sciences, University of Siena, Italy. Electronic address: martina.balestri@opbg.net.
authors.forename: Martina
authors.initials: M
authors.lastname: Balestri
authors.affiliation: Unit of Clinical Psychology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Cappelletti
authors.affiliation: Neurology Division, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Valeriani
authors.affiliation: Neurology Division, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
mesh_terms: D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D002648:Child; D004569:Electroencephalography; D004833:Epilepsy, Temporal Lobe / Q000473:pathology* / Q000503:physiopathology* / Q000523:psychology; D005260:Female; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000473:pathology* / Q000503:physiopathology* / Q000523:psychology; D008279:Magnetic Resonance Imaging; D011569:Psychiatric Status Rating Scales; D012640:Seizures / Q000503:physiopathology; D014741:Video Recording
keywords: EEG; cutaneous and mucosal hyalinosis or Urbach-Wiethe syndrome; lipoproteinosis; temporal seizure