Annals of medicine and surgery (2012) · 2025
Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Alyahya Yahya A, Alsirhy Ehab Y, Alwadani Saeed F, Al-Anazi Tariq A, Kondkar Altaf A, Azad Taif A
Аннотация
INTRODUCTION AND IMPORTANCE: Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant disease characterized by developmental delay, distinctive craniofacial features, sparse hair, and is caused by de novo mutations in the SMARCA2 gene.
CASE PRESENTATION: We report the case of an 11-year-old male with NCBRS presenting with bilateral congenital glaucoma. The diagnosis was based on clinical presentation, such as attention deficit hyperactivity disorder, cognitive delay, and characteristic craniofacial features, and confirmed by the presence of a de novo mutation in the SMARCA2 gene through whole-exome sequencing.
CLINICAL DISCUSSION: This case of a child with bilateral congenital glaucoma contributes further evidence of abnormal ocular features associated with the phenotypic spectrum of NCBRS, marking only the third such case reported in the literature.
CONCLUSION: This rare association of NCBRS with bilateral congenital glaucoma highlights the importance of ophthalmologic screening in patients with NCBRS.
CASE PRESENTATION: We report the case of an 11-year-old male with NCBRS presenting with bilateral congenital glaucoma. The diagnosis was based on clinical presentation, such as attention deficit hyperactivity disorder, cognitive delay, and characteristic craniofacial features, and confirmed by the presence of a de novo mutation in the SMARCA2 gene through whole-exome sequencing.
CLINICAL DISCUSSION: This case of a child with bilateral congenital glaucoma contributes further evidence of abnormal ocular features associated with the phenotypic spectrum of NCBRS, marking only the third such case reported in the literature.
CONCLUSION: This rare association of NCBRS with bilateral congenital glaucoma highlights the importance of ophthalmologic screening in patients with NCBRS.