Auditory neuropathy is characterized by abnormal neural conduction in the auditory pathway despite normal outer hair cell function, exhibiting substantial genetic heterogeneity and phenotypic variability. We report the case of a 29-year-old male patient with hearing loss, bilateral enlargement of the vestibular aqueduct (EVA), and vestibular system dysfunction. Based on these features, which are tipically indicative of Pendred syndrome, a molecular investigation including the SLC26A4 gene was performed. This analysis identified a novel heterozygous missense variant, c.411A>C, in exon 4 of the DIAPH3 gene, likely associated with autosomal dominant auditory neuropathy. This point mutation results in substituting glutamic acid with aspartic acid at position 137 p.(Glu137Asp), in the functional Rho-GTPase-binding domain of the DIAPH3 protein. Segregation analysis of the parents and two siblings of the proband revealed the variant’s de novo origin. According to the American College of Medical Genetics and Genomics criteria, this finding underscores the need to reclassify the variant as likely pathogenic. This is the first evidence of an association between a DIAPH3 variant and hearing loss coupled with bilateral EVA and vestibular system dysfunction. This finding contributes to a better understanding of the phenotypic complexity of disorders grouped within the auditory neuropathy spectrum.

Auditory neuropathy is characterized by abnormal neural conduction in the auditory pathway despite normal outer hair cell function, exhibiting substantial genetic heterogeneity and phenotypic variability. We report the case of a 29-year-old male patient with hearing loss, bilateral enlargement of the vestibular aqueduct (EVA), and vestibular system dysfunction. Based on these features, which are tipically indicative of Pendred syndrome, a molecular investigation including the SLC26A4 gene was performed. This analysis identified a novel heterozygous missense variant, c.411A>C, in exon 4 of the DIAPH3 gene, likely associated with autosomal dominant auditory neuropathy. This point mutation results in substituting glutamic acid with aspartic acid at position 137 p.(Glu137Asp), in the functional Rho-GTPase-binding domain of the DIAPH3 protein. Segregation analysis of the parents and two siblings of the proband revealed the variant’s de novo origin. According to the American College of Medical Genetics and Genomics criteria, this finding underscores the need to reclassify the variant as likely pathogenic. This is the first evidence of an association between a DIAPH3 variant and hearing loss coupled with bilateral EVA and vestibular system dysfunction. This finding contributes to a better understanding of the phenotypic complexity of disorders grouped within the auditory neuropathy spectrum.

Auditory neuropathy is characterized by abnormal neural conduction in the auditory pathway despite normal outer hair cell function, exhibiting substantial genetic heterogeneity and phenotypic variability. We report the case of a 29-year-old male patient with hearing loss, bilateral enlargement of the vestibular aqueduct (EVA), and vestibular system dysfunction. Based on these features, which are tipically indicative of Pendred syndrome, a molecular investigation including the SLC26A4 gene was performed. This analysis identified a novel heterozygous missense variant, c.411A>C, in exon 4 of the DIAPH3 gene, likely associated with autosomal dominant auditory neuropathy. This point mutation results in substituting glutamic acid with aspartic acid at position 137 p.(Glu137Asp), in the functional Rho-GTPase-binding domain of the DIAPH3 protein. Segregation analysis of the parents and two siblings of the proband revealed the variant’s de novo origin. According to the American College of Medical Genetics and Genomics criteria, this finding underscores the need to reclassify the variant as likely pathogenic. This is the first evidence of an association between a DIAPH3 variant and hearing loss coupled with bilateral EVA and vestibular system dysfunction. This finding contributes to a better understanding of the phenotypic complexity of disorders grouped within the auditory neuropathy spectrum.

Background: Lead poisoning is a serious public health issue that can arise from various sources, including nonoccupational exposure. This can make it challenging to manage, as lead poisoning can arise from unexpected sources. This case study examined lead poisoning in a 52-year-old man linked to hobbyist activities involving lead pellets, highlighting the diagnostic and therapeutic challenges associated with this uncommon source of exposure.Case presentation: A 52-year-old man with a history of sports fishing presented with confusion, balance disorders, and memory loss. The initial medical evaluation revealed anemia and elevated lead levels. Further investigations, including imaging and blood tests, confirmed the presence of ingested lead pellets. The patient underwent chelation therapy, which led to a reduction in blood lead levels and improvement in symptoms. Follow-up over 46 months showed a gradual decrease in lead levels and partial recovery of cognitive function, although a few lead-related effects persisted. Conclusions This case underscores the need for awareness of non-traditional sources of lead exposure, such as hobbyist activities. Effective diagnosis and treatment, including chelation therapy, can significantly alleviate the effects of lead poisoning. Ongoing monitoring is essential to manage long-term health outcomes related to chronic lead exposure.