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Neuropediatrics 2022; 53(04): 283-286
DOI: 10.1055/s-0041-1736193
Short Communication

Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder

Enrico Alfei
1   Pediatric Neurology Unit, Department of Pediatrics, “Vittore Buzzi” Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy
,
Elisa Cattaneo
2   Clinical Genetics Unit, Department of Pediatrics, “Vittore Buzzi” Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy
,
Luigina Spaccini
3   Clinical Genetics Unit, Department of Obstetrics and Gynecology, “Vittore Buzzi” Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy
,
Maria Iascone
4   Medical Genetics Laboratory, Hospital Papa Giovanni XXIII, Bergamo, Italy
,
Pierangelo Veggiotti
5   Pediatric Neurology Unit, “Vittore Buzzi” Children's Hospital, Department of Biomedical and Clinical Sciences “L. Sacco,” University of Milan, Italy
,
Chiara Doneda
6   Department of Pediatric Radiology and Neuroradiology, “Vittore Buzzi” Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy
› Author Affiliations Funding This study did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
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Abstract

We report a patient affected by BCL11B-related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that BCL11B mutations may be implicated not only in impaired morphogenesis and hematopoiesis but also in progressive central nervous system damage, which remains to be further investigated and clarified.

Keywords

BCL11B - neurodevelopmental disorder - brain - basal ganglia - dystonia - immunodeficiency


Publication History

Received: 23 April 2021

Accepted: 05 August 2021

Article published online:
29 November 2021

© 2021. Thieme. All rights reserved.

Georg Thieme Verlag KG
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