Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: case report

BMC Medical Genetics

Case Report

Giuseppe Novelli¹  Monica D’Adamo²  Valeria Guglielmi²  Paolo Sbraccia²  Francesco Garaci³  Roberto Floris³ 

[1] Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, Italy;Medical Genetics Unit, University Hospital Policlinico Tor Vergata, Rome, Italy;Department of Systems Medicine, University of Rome “Tor Vergata”, Via Montpellier 1, 00133, Rome, Italy;Obesity Center, University Hospital Policlinico Tor Vergata, Rome, Italy;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;

关键词: Bilateral posterior periventricular nodular heterotopia;    Obesity;    Hyperphagia;   

DOI  :  10.1186/s12881-016-0282-6

 received in 2015-06-19, accepted in 2016-03-01,  发布年份 2016

来源: Springer

【 摘 要 】

BackgroundBilateral 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.Case presentationThis 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/m2) 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/m2) 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.ConclusionThe present case may contribute to the expansion of the phenotypic expressions of this distinctive complex malformation.

【 授权许可】

CC BY   
© Guglielmi et al. 2016