Cerbone, M;
Clement, E;
McClatchey, M;
Dobbin, J;
Gilbert, C;
Keane, M;
Boukhibar, L;
... Shah, P; + view all
(2019)
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.
Hormone Research in Paediatrics
, 2019
(92)
pp. 64-70.
10.1159/000496545.
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Abstract
Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperinsulinaemic hypoglycaemia (CHI) has been increasingly reported in association with this condition. The mechanism responsible for CHI in SoS is unclear. We report the case of a neonate presenting with CHI and extensive venous and arterial thrombosis associated with kidney, heart, liver, skeleton, and brain abnormalities and finally diagnosed with SoS on whole genome sequencing. Our case describes an extended phenotype associated with SoS presenting with CHI (including thrombosis and liver dysfunction) and reinforces the association of transient CHI with SoS. The case also shows that an early neonatal diagnosis of rare genetic conditions is challenging, especially in acutely unwell patients, and that in complex cases with incomplete, atypical, or overlapping phenotypes, broad genomic testing by whole exome or whole genome sequencing may be a useful diagnostic strategy.
| Type: | Article |
|---|---|
| Title: | Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement |
| Location: | Switzerland |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1159/000496545 |
| Publisher version: | https://doi.org/10.1159/000496545 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10072800 |
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