Type

Journal Article

Authors

Mary Dolores King
Michael Farrell
Deirdre Devaney
Judith Conroy
John James Aird
Kathleen Mary Gorman

Subjects

Psychiatry

Topics
male thalamus diagnostic imaging exome magnetic resonance imaging brain diseases infant humans pathology calcinosis female etiology genetic testing genetics complications

Symmetrical thalamic calcification: A trio whole exome sequencing negative series. (2016)

Abstract Symmetrical thalamic calcification or bilateral symmetrical thalamic gliosis presents at delivery with hypertonia, fixed flexion contractures and prominent bulbar signs, without preceding perinatal asphyxia. At post-mortem, there is evidence of bilateral symmetrical selective thalamic neuronal encrustation and gliosis. To date, 27 cases are published with no underlying diagnosis identified. Two affected children from singleton pregnancies were reported and therefore, a genetic cause proposed. No previous reports have performed genetic testing to confirm or reject this hypothesis. We report three additional cases of this rare condition, expanding the clinical and pathological phenotype. We performed trio whole exome sequencing, the first in this cohort of patients, and did not identify a pathogenic variant. As postulated in the original report, the likely underlying mechanism is antenatal hypoxia in the third trimester.
Collections Ireland -> University College Dublin -> PubMed

Full list of authors on original publication

Mary Dolores King, Michael Farrell, Deirdre Devaney, Judith Conroy, John James Aird, Kathleen Mary Gorman

Experts in our system

1
Mary D King
University College Dublin
Total Publications: 27
 
2
Michael A Farrell
Royal College of Surgeons in Ireland
Total Publications: 39
 
3
Judith Conroy
University College Dublin
Total Publications: 24
 
4
Kathleen Gorman
University College Dublin
Total Publications: 12