Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.
PMID 38883102 | PMCID PMC11179030 | DOI 10.7759/cureus.60396 · Cureus · 2024 · View on PubMed ↗
Alström syndrome is a genetic disease that impacts numerous systems in the human body. The symptoms can vary and appear gradually. Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children. Diabetes mellitus, hepatic issues, and renal dysfunction can all occur over time. Genetic alterations in the ALMS1 gene are the cause of Alström syndrome. It has an autosomal recessive inheritance pattern. We address the case of a Saudi woman in her 20s. She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome. DNA testing showed that she has a homozygous pathogenic variant in the ALMS gene. Autosomal recessive Alström syndrome has been confirmed as a genetic diagnosis. No other clinically significant variations were found that are associated with the mentioned phenotype. By reporting this mutation, we hope to learn more about the genotypic range of the disease, particularly in the Saudi population. As each member of the family underwent genetic testing, we established a stringent follow-up schedule for our patient and her family.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | ALMS1 | “Genetic alterations in the ALMS1 gene are the cause of Alström syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | cardiomyopathy | “Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hearing loss | “She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | Alstrom syndrome | “Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | renal failure | “She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss. We address the case of a Saudi woman in her 20s. By reporting this mutation, we hope to learn more about the genotypic range of the disease, particularly in the Saudi population.” | 0.95 | saudi_context_rules_v1 |