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

Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Original Publication: London : BioMed Central, [2000-

Hyperphagia/*genetics ; Obesity/*genetics ; Periventricular Nodular Heterotopia/*genetics; Appetite ; Body Mass Index ; Brain/abnormalities ; Child, Preschool ; Cognition ; Comparative Genomic Hybridization ; Female ; Filamins/genetics ; Follow-Up Studies ; Genetic Loci ; Genetic Testing ; Growth Disorders/genetics ; Humans ; Italy ; Mutation ; Phenotype

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.
Case Presentation: 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.
Conclusion: The present case may contribute to the expansion of the phenotypic expressions of this distinctive complex malformation.

N Engl J Med. 2003 Mar 20;348(12):1085-95. (PMID: 12646665)
Nat Genet. 2004 Jan;36(1):69-76. (PMID: 14647276)
Neurology. 2004 Jul 13;63(1):51-6. (PMID: 15249610)
Acta Neuropathol. 1985;67(3-4):345-9. (PMID: 3901653)
J Pediatr. 1993 Apr;122(4):556-62. (PMID: 8463900)
Int J Neurosci. 1997 Oct;91(3-4):161-7. (PMID: 9394223)
Neuron. 1998 Dec;21(6):1315-25. (PMID: 9883725)
J Comp Neurol. 2006 Jan 20;494(3):476-84. (PMID: 16320251)
Neurology. 2005 Dec 27;65(12):1873-87. (PMID: 16192428)
Epilepsia. 2006 Jan;47(1):86-97. (PMID: 16417536)
Brain. 2006 Jul;129(Pt 7):1892-906. (PMID: 16684786)
Endocr Rev. 2006 Dec;27(7):710-18. (PMID: 17122358)
N Engl J Med. 2007 Jan 18;356(3):237-47. (PMID: 17229951)
J Clin Endocrinol Metab. 2007 Sep;92(9):3369-73. (PMID: 17595246)
Trends Neurosci. 2008 Feb;31(2):54-61. (PMID: 18201775)
Dialogues Clin Neurosci. 2008;10(1):47-62. (PMID: 18472484)
Hum Mol Genet. 2009 Feb 1;18(3):497-516. (PMID: 18996916)
Am J Med Genet A. 2009 Nov;149A(11):2479-83. (PMID: 19842192)
Neurobiol Dis. 2010 May;38(2):154-66. (PMID: 19245832)
Seizure. 2010 Sep;19(7):450-2. (PMID: 20637656)
AJNR Am J Neuroradiol. 2013 Feb;34(2):432-8. (PMID: 23348762)
AJNR Am J Neuroradiol. 2013 Apr;34(4):877-83. (PMID: 23064591)
NMR Biomed. 2013 Jun;26(6):622-9. (PMID: 23335390)

0 (FLNA protein, human)
0 (Filamins)

Periventricular Laminar Heterotopia

Date Created: 20160310 Date Completed: 20160511 Latest Revision: 20181113

20240104

PMC4784440

10.1186/s12881-016-0282-6

26956990