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Temporal lobe megalencephaly

MedGen UID:
1814371
•Concept ID:
C5676807
•
Congenital Abnormality
HPO: HP:0034220

Definition

Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTemporal lobe megalencephaly

Professional guidelines

PubMed

Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab.
Almgren M, Schalling M, Lavebratt C
Eur J Paediatr Neurol 2008 Nov;12(6):438-45. Epub 2008 Jan 31 doi: 10.1016/j.ejpn.2007.11.008. PMID: 18242108

Recent clinical studies

Etiology

Understanding Hippocampal Development in Young Children With Autism Spectrum Disorder.
Reinhardt VP, Iosif AM, Libero L, Heath B, Rogers SJ, Ferrer E, Nordahl C, Ghetti S, Amaral D, Solomon M
J Am Acad Child Adolesc Psychiatry 2020 Sep;59(9):1069-1079. Epub 2019 Aug 23 doi: 10.1016/j.jaac.2019.08.008. PMID: 31449875Free PMC Article
A Retrospective Analysis of the Utility of Head Computed Tomography and/or Magnetic Resonance Imaging in the Management of Benign Macrocrania.
Haws ME, Linscott L, Thomas C, Orscheln E, Radhakrishnan R, Kline-Fath B
J Pediatr 2017 Mar;182:283-289.e1. Epub 2016 Dec 15 doi: 10.1016/j.jpeds.2016.11.033. PMID: 27989412
Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab.
Almgren M, Schalling M, Lavebratt C
Eur J Paediatr Neurol 2008 Nov;12(6):438-45. Epub 2008 Jan 31 doi: 10.1016/j.ejpn.2007.11.008. PMID: 18242108

Diagnosis

Cochlear implantation in a profoundly deaf child with cystic leukoencephalopathy without megalencephaly.
Gopalakrishnan A, Thangavel S, Chowdhary S, Alexander A
J Laryngol Otol 2023 May;137(5):584-587. Epub 2022 Aug 18 doi: 10.1017/S0022215122001931. PMID: 35979751
Novel RNASET2 Pathogenic Variants in an East Asian Child with Delayed Psychomotor Development.
Sun Y, Hu X, Song J, Hu Y, Liu C, Li G
Fetal Pediatr Pathol 2018 Feb;37(1):15-21. Epub 2018 Jan 16 doi: 10.1080/15513815.2017.1388456. PMID: 29336640
A Retrospective Analysis of the Utility of Head Computed Tomography and/or Magnetic Resonance Imaging in the Management of Benign Macrocrania.
Haws ME, Linscott L, Thomas C, Orscheln E, Radhakrishnan R, Kline-Fath B
J Pediatr 2017 Mar;182:283-289.e1. Epub 2016 Dec 15 doi: 10.1016/j.jpeds.2016.11.033. PMID: 27989412
Temporal lobe connects regression and macrocephaly to autism spectrum disorders.
Valvo G, Baldini S, Retico A, Rossi G, Tancredi R, Ferrari AR, Calderoni S, Apicella F, Muratori F, Santorelli FM, Sicca F
Eur Child Adolesc Psychiatry 2016 Apr;25(4):421-9. Epub 2015 Jul 30 doi: 10.1007/s00787-015-0746-9. PMID: 26224585Free PMC Article
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome: a case report.
Kariminejad A, Radmanesh F, Rezayi AR, Tonekaboni SH, Gleeson JG
J Child Neurol 2013 May;28(5):651-7. Epub 2012 Aug 1 doi: 10.1177/0883073812448530. PMID: 22859694

Therapy

Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target.
Galanopoulou AS, Gorter JA, Cepeda C
Epilepsia 2012 Jul;53(7):1119-30. Epub 2012 May 11 doi: 10.1111/j.1528-1167.2012.03506.x. PMID: 22578218Free PMC Article
Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab.
Almgren M, Schalling M, Lavebratt C
Eur J Paediatr Neurol 2008 Nov;12(6):438-45. Epub 2008 Jan 31 doi: 10.1016/j.ejpn.2007.11.008. PMID: 18242108

Prognosis

A Retrospective Analysis of the Utility of Head Computed Tomography and/or Magnetic Resonance Imaging in the Management of Benign Macrocrania.
Haws ME, Linscott L, Thomas C, Orscheln E, Radhakrishnan R, Kline-Fath B
J Pediatr 2017 Mar;182:283-289.e1. Epub 2016 Dec 15 doi: 10.1016/j.jpeds.2016.11.033. PMID: 27989412
Temporal lobe connects regression and macrocephaly to autism spectrum disorders.
Valvo G, Baldini S, Retico A, Rossi G, Tancredi R, Ferrari AR, Calderoni S, Apicella F, Muratori F, Santorelli FM, Sicca F
Eur Child Adolesc Psychiatry 2016 Apr;25(4):421-9. Epub 2015 Jul 30 doi: 10.1007/s00787-015-0746-9. PMID: 26224585Free PMC Article

Clinical prediction guides

Understanding Hippocampal Development in Young Children With Autism Spectrum Disorder.
Reinhardt VP, Iosif AM, Libero L, Heath B, Rogers SJ, Ferrer E, Nordahl C, Ghetti S, Amaral D, Solomon M
J Am Acad Child Adolesc Psychiatry 2020 Sep;59(9):1069-1079. Epub 2019 Aug 23 doi: 10.1016/j.jaac.2019.08.008. PMID: 31449875Free PMC Article
Temporal lobe connects regression and macrocephaly to autism spectrum disorders.
Valvo G, Baldini S, Retico A, Rossi G, Tancredi R, Ferrari AR, Calderoni S, Apicella F, Muratori F, Santorelli FM, Sicca F
Eur Child Adolesc Psychiatry 2016 Apr;25(4):421-9. Epub 2015 Jul 30 doi: 10.1007/s00787-015-0746-9. PMID: 26224585Free PMC Article
Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target.
Galanopoulou AS, Gorter JA, Cepeda C
Epilepsia 2012 Jul;53(7):1119-30. Epub 2012 May 11 doi: 10.1111/j.1528-1167.2012.03506.x. PMID: 22578218Free PMC Article
Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound.
Blaas HG, Vogt C, Eik-Nes SH
Ultrasound Obstet Gynecol 2012 Aug;40(2):230-4. Epub 2012 Jun 22 doi: 10.1002/uog.11127. PMID: 22374812
Neuropathologic findings in thanatophoric dysplasia.
Ho KL, Chang CH, Yang SS, Chason JL
Acta Neuropathol 1984;63(3):218-28. doi: 10.1007/BF00685248. PMID: 6464678

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