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.

Guglielmi, V., Floris, R., D'Adamo, M., Garaci, F., Novelli, G., Sbraccia, P. (2016). Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: Case report. BMC MEDICAL GENETICS, 17(1), 18 [10.1186/s12881-016-0282-6].

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

Guglielmi, V;FLORIS, ROBERTO;D'ADAMO, MONICA;GARACI, FRANCESCO;NOVELLI, GIUSEPPE;SBRACCIA, PAOLO
2016-01-01

Abstract

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.
2016
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/09 - MEDICINA INTERNA
Settore MED/03 - GENETICA MEDICA
Settore MED/36 - DIAGNOSTICA PER IMMAGINI E RADIOTERAPIA
English
Con Impact Factor ISI
Appetite; Body Mass Index; Brain; Child, Preschool; Cognition; Comparative Genomic Hybridization; Female; Filamins; Follow-Up Studies; Genetic Loci; Genetic Testing; Growth Disorders; Humans; Hyperphagia; Italy; Mutation; Obesity; Periventricular Nodular Heterotopia; Phenotype
Guglielmi, V., Floris, R., D'Adamo, M., Garaci, F., Novelli, G., Sbraccia, P. (2016). Massive obesity and hyperphagia in posterior bilateral periventricular heterotopias: Case report. BMC MEDICAL GENETICS, 17(1), 18 [10.1186/s12881-016-0282-6].
Guglielmi, V; Floris, R; D'Adamo, M; Garaci, F; Novelli, G; Sbraccia, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/151307
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