title: Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: case report.
abstract: BACKGROUND
  Bilateral posterior periventricular nodular heterotopia PNH is a complex malformation of cortical development with imaging features distinguishing it from classic bilateral PNH associated with filamin (FLNA) mutations. It distinctively consists of variably sized nodules of neurons along the trigones and temporal or occipital horns of the lateral ventricles and spectrum of developmental disorders of the mid-/hindbrain. This association suggests that pPNH is part of a more diffuse process of posterior or infrasylvian brain developmental abnormalities other than just a disorder of neuronal migration.
  
  
  METHODS
  This report describes the first case of an Italian young girl featuring pPNH and severe hyperphagic obesity. At the time of our first examination at age 3 years of age she was severely obese (body mass index, BMI 45.9 Kg/m(2)) and food-seeking behavior in the free-living situation was reported by the relatives. She showed normal linear growth and cognition, but mildly dysmorphic facial traits including deeply-set eyes, prominent zygomatic bones, downturned mouth corners and low-set ears. Over the years, the patient progressively developed further massive weight gain (at age 9 years, her BMI was 60.4 Kg/m(2)) and hyperphagia was confirmed by an ad libitum test meal. During follow-up, she presented limitations in walking capacity and in physical functioning due to the disabling obesity. On the basis of distinctive neuro-radiological findings pPNH was diagnosed, in absence of history of seizures.
  
  
  CONCLUSIONS
  The present case may contribute to the expansion of the phenotypic expressions of this distinctive complex malformation.
authors.affiliation: Department of Systems Medicine, University of Rome "Tor Vergata", Via Montpellier 1, 00133, Rome, Italy.|Obesity Center, University Hospital Policlinico Tor Vergata, Rome, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Guglielmi
authors.affiliation: Diagnostic Imaging, University Hospital Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.|Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Floris
authors.affiliation: Department of Systems Medicine, University of Rome "Tor Vergata", Via Montpellier 1, 00133, Rome, Italy.|Obesity Center, University Hospital Policlinico Tor Vergata, Rome, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: D'Adamo
authors.affiliation: Diagnostic Imaging, University Hospital Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.|Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Garaci
authors.affiliation: Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.|Medical Genetics Unit, University Hospital Policlinico Tor Vergata, Rome, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.affiliation: Department of Systems Medicine, University of Rome "Tor Vergata", Via Montpellier 1, 00133, Rome, Italy. sbraccia@med.uniroma2.it.|Obesity Center, University Hospital Policlinico Tor Vergata, Rome, Italy. sbraccia@med.uniroma2.it.
authors.forename: Paolo
authors.initials: P
authors.lastname: Sbraccia
mesh_terms: D001066:Appetite; D015992:Body Mass Index; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D003071:Cognition; D055028:Comparative Genomic Hybridization; D005260:Female; D064448:Filamins / Q000235:genetics; D005500:Follow-Up Studies; D056426:Genetic Loci; D005820:Genetic Testing; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D006963:Hyperphagia / Q000235:genetics*; D007558:Italy; D009154:Mutation; D009765:Obesity / Q000235:genetics*; D054091:Periventricular Nodular Heterotopia / Q000235:genetics*; D010641:Phenotype
chemical_list: C578663:FLNA protein, human; D064448:Filamins