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Войти в исследования Translational pediatrics · 2026
Alström syndrome in a Chinese girl: a case report and literature review.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Bao Jiapeng, Kou Shuang, Liu Xiaoxuan, Zhang Yuanying, Li Yanying, Zhang Mei, Zhang Yanhong
Аннотация
BACKGROUND: Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder caused by homozygous or compound heterozygous mutations in the ALMS1 gene. The encoded ALMS1 protein is widely distributed, leading to the complex clinical manifestations of this disease. Currently, there are no effective curative treatments-disease-modifying or curative therapies.
CASE DESCRIPTION: We report a case of ALMS in a Chinese female patient featuring nystagmus, visual impairment, diabetes mellitus, hepatosplenomegaly, mixed hearing loss, ovarian pedicle torsion, and acanthosis nigricans. Comprehensive clinical data-including anthropometric, laboratory, and imaging findings-were collected. Whole-exome sequencing identified biallelic pathogenic variants in the ALMS1 gene, confirming the diagnosis. For glycemic control, the patient was managed with a combination of insulin aspart, insulin detemir, and metformin.
CONCLUSIONS: We identified a novel likely pathogenic variant in the ALMS1 gene as the underlying cause of ALMS in this Chinese patient. The clinical presentation highlights the remarkable phenotypic variability of the disorder, a key factor contributing to frequent diagnostic delays or errors. Consequently, early genetic confirmation is imperative to guide appropriate and timely interventions that can significantly improve patient care and quality of life.
CASE DESCRIPTION: We report a case of ALMS in a Chinese female patient featuring nystagmus, visual impairment, diabetes mellitus, hepatosplenomegaly, mixed hearing loss, ovarian pedicle torsion, and acanthosis nigricans. Comprehensive clinical data-including anthropometric, laboratory, and imaging findings-were collected. Whole-exome sequencing identified biallelic pathogenic variants in the ALMS1 gene, confirming the diagnosis. For glycemic control, the patient was managed with a combination of insulin aspart, insulin detemir, and metformin.
CONCLUSIONS: We identified a novel likely pathogenic variant in the ALMS1 gene as the underlying cause of ALMS in this Chinese patient. The clinical presentation highlights the remarkable phenotypic variability of the disorder, a key factor contributing to frequent diagnostic delays or errors. Consequently, early genetic confirmation is imperative to guide appropriate and timely interventions that can significantly improve patient care and quality of life.