Expanding the spectrum of SATB2-associated syndrome: a case with hearing loss and enlarged perivascular spaces

Abstract

SATB2-associated syndrome (SAS) is a rare neurogenetic disorder char­acterized by intellectual disability, absent or limited speech, craniofacial and dental anomalies, and behavioral disturbances. While most cases are associated with normal hearing, some may present with atypical features.

We describe an 8-year-old male with global developmental delay, absent verbal language, autism spectrum disorder, and bilateral moderate sensorineural hearing loss. Dysmorphic facial features and neuroimaging findings of enlarged perivascular spaces were also identified. Whole-exome sequencing ultimately revealed a heterozygous pathogenic SATB2 variant (c.1285C>T; p.Arg429*), confirming SAS.

This case expands the phenotypic spectrum of SAS by reporting a rare association with sensorineural hearing loss and enlarged perivascular spaces. It emphasizes the importance of considering SAS in patients with global developmental delay and syndromic features and supports the utility of exome sequencing in achieving a definitive diagnosis.