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

Enrico Alfei; Elisa Cattaneo; Luigina Spaccini; Maria Iascone; Pierangelo Veggiotti; Chiara Doneda

doi:10.1055/s-0041-1736193

Neuropediatrics, Inhaltsverzeichnis

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

¹Pediatric Neurology Unit, Department of Pediatrics, “Vittore Buzzi” Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy

,

Elisa Cattaneo

²Clinical Genetics Unit, Department of Pediatrics, “Vittore Buzzi” Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy

,

Luigina Spaccini

³Clinical Genetics Unit, Department of Obstetrics and Gynecology, “Vittore Buzzi” Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy

,

Maria Iascone

⁴Medical Genetics Laboratory, Hospital Papa Giovanni XXIII, Bergamo, Italy

,

Pierangelo Veggiotti

⁵Pediatric Neurology Unit, “Vittore Buzzi” Children's Hospital, Department of Biomedical and Clinical Sciences “L. Sacco,” University of Milan, Italy

,

Chiara Doneda

⁶Department of Pediatric Radiology and Neuroradiology, “Vittore Buzzi” Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy

› Institutsangaben

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

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Referenzen

References
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