Download PDF
Neuropediatrics 2021; 52(01): 062-064
DOI: 10.1055/s-0040-1715487
Short Communication

Interpeduncular Heterotopia and Brain Stem Cleft: An Isolated Finding Not Associated with Joubert Syndrome

Seda Kaynak Sahap 
1   Department of Pediatric Radiology, Dr. Sami Ulus Maternity and Children's Research Hospital, Ankara, Turkey
,
Berna Ucan
1   Department of Pediatric Radiology, Dr. Sami Ulus Maternity and Children's Research Hospital, Ankara, Turkey
,
Derya Bako Keskin
2   Department of Pediatric Radiology, Van Regional Training and Research Hospital, Van, Turkey
,
Ozben Akinci Goktas
3   Department of Pediatric Neurology, Ankara University School of Medicine, Ankara, Turkey
,
Suat Fitoz
4   Department of Pediatric Radiology, Ankara University School of Medicine, Ankara, Turkey
› Author Affiliations
› Further Information
    Permissions and Reprints

Abstract

Interpeduncular heterotopia is a new neuroimaging finding reported in association with Joubert syndrome (JS) in a few cases in the literature. Nodular interpeduncular tissue was termed as interpeduncular heterotopia and anterior mesencephalic cap dysplasia in the literature in relation to gray and white matter content. We described the imaging findings and diffusion tensor imaging data of a case with interpeduncular heterotopia and brain stem cleft. This is the first case, in which interpeduncular heterotopia was an isolated finding not associated with JS.

Keywords

interpeduncular heterotopia - Joubert syndrome - diffusion tensor imaging


Publication History

Received: 07 April 2020

Accepted: 02 July 2020

Article published online:
27 October 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Harting I, Kotzaeridou U, Poretti A. et al. Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding. AJNR Am J Neuroradiol 2011; 32 (07) 1286-1289
    CrossrefPubMedGoogle Scholar
  • 2 Arrigoni F, Romaniello R, Peruzzo D. et al. Anterior mesencephalic cap dysplasia: novel brain stem malformative features associated with Joubert syndrome. AJNR Am J Neuroradiol 2017; 38 (12) 2385-2390
    CrossrefPubMedGoogle Scholar
  • 3 Mitter C, Jakab A, Brugger PC. et al. Validation of in utero tractography of human fetal commissural and internal capsule fibers with histological structure tensor analysis. Front Neuroanat 2015; 9: 164
    CrossrefPubMedGoogle Scholar
  • 4 Poretti A, Snow J, Summers AC. et al; NISC Comparative Sequencing Program. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet 2017; 54 (08) 521-529
    CrossrefPubMedGoogle Scholar
  • 5 Poretti A, Brehmer U, Scheer I, Bernet V, Boltshauser E. Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. AJNR Am J Neuroradiol 2008; 29 (06) 1090-1091
    CrossrefPubMedGoogle Scholar
  • 6 Isaka T, Nakatani S, Yoshimine T, Akai F, Taneda M. Asymptomatic hypothalamic hamartoma associated with an arachnoid cyst--case report. Neurol Med Chir (Tokyo) 1996; 36 (10) 725-728
    CrossrefPubMedGoogle Scholar
  • 7 Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain 2009; 132 (Pt 12): 3199-3230
    CrossrefPubMedGoogle Scholar