Mitchell-Riley Syndrome: A rare genetic disorder, case report
Mitchell-Riley Syndrome (MRS), is a rare autosomal recessive genetic disorder due to recessive mutations of the RFX6 gene. It has a distinct clinical phenotype marked by neonatal diabetes and chronic diarrhoea, accompanied by various anomalies within the digestive system such as intestinal atresia/m...
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| Language: | English |
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Elsevier
2024-01-01
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| Series: | Rare |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2950008724000255 |
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| author | Shria Sadhu Nibal Albitar Mai AlKhouly Aqeel Farooque |
| author_facet | Shria Sadhu Nibal Albitar Mai AlKhouly Aqeel Farooque |
| author_sort | Shria Sadhu |
| collection | DOAJ |
| description | Mitchell-Riley Syndrome (MRS), is a rare autosomal recessive genetic disorder due to recessive mutations of the RFX6 gene. It has a distinct clinical phenotype marked by neonatal diabetes and chronic diarrhoea, accompanied by various anomalies within the digestive system such as intestinal atresia/malrotation, pancreatic hypoplasia, biliary atresia, and gallbladder aplasia or hypoplasia, with or without cholestasis. Early identification will prompt the physician toward a genetic diagnosis, aggressive clinical management, and family counselling. We report a case of a male infant with neonatal diabetes and intestinal obstruction, with genetically confirmed RFX6 missense homozygous variant. Though our infant ultimately succumbed to gram positive (Staphylococcus epidermidis) septicaemia originating from an infected central venous catheter, multidisciplinary and intensive disease management overall improves the clinical outcome in patients with Mitchell-Riley Syndrome. This includes tailored parenteral/oral nutrition and the use of advanced diabetes technologies. This rare syndrome is usually fatal, with death within the first year of life in the majority of reported cases. Clinicians should consider the possibility of this rarely reported syndrome in the diagnosis of a newborn that presents with hyperglycaemia along with intestinal atresia and/or progressive cholestasis. A better understanding of RFX6 function among both intestine and pancreas cells is essential for the identification of using new drugs that could modulate the enteroendocrine system. Level of clinical evidence: 4 |
| format | Article |
| id | doaj-art-aa42eaa0e05e4a9ea6b2d71fc66770c9 |
| institution | OA Journals |
| issn | 2950-0087 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Rare |
| spelling | doaj-art-aa42eaa0e05e4a9ea6b2d71fc66770c92025-08-20T02:37:02ZengElsevierRare2950-00872024-01-01210004210.1016/j.rare.2024.100042Mitchell-Riley Syndrome: A rare genetic disorder, case reportShria Sadhu0Nibal Albitar1Mai AlKhouly2Aqeel Farooque3Corresponding authors.; Al Qassimi Women’s and Children’s Hospital, Sharjah, UAEAl Qassimi Women’s and Children’s Hospital, Sharjah, UAEAl Qassimi Women’s and Children’s Hospital, Sharjah, UAECorresponding authors.; Al Qassimi Women’s and Children’s Hospital, Sharjah, UAEMitchell-Riley Syndrome (MRS), is a rare autosomal recessive genetic disorder due to recessive mutations of the RFX6 gene. It has a distinct clinical phenotype marked by neonatal diabetes and chronic diarrhoea, accompanied by various anomalies within the digestive system such as intestinal atresia/malrotation, pancreatic hypoplasia, biliary atresia, and gallbladder aplasia or hypoplasia, with or without cholestasis. Early identification will prompt the physician toward a genetic diagnosis, aggressive clinical management, and family counselling. We report a case of a male infant with neonatal diabetes and intestinal obstruction, with genetically confirmed RFX6 missense homozygous variant. Though our infant ultimately succumbed to gram positive (Staphylococcus epidermidis) septicaemia originating from an infected central venous catheter, multidisciplinary and intensive disease management overall improves the clinical outcome in patients with Mitchell-Riley Syndrome. This includes tailored parenteral/oral nutrition and the use of advanced diabetes technologies. This rare syndrome is usually fatal, with death within the first year of life in the majority of reported cases. Clinicians should consider the possibility of this rarely reported syndrome in the diagnosis of a newborn that presents with hyperglycaemia along with intestinal atresia and/or progressive cholestasis. A better understanding of RFX6 function among both intestine and pancreas cells is essential for the identification of using new drugs that could modulate the enteroendocrine system. Level of clinical evidence: 4http://www.sciencedirect.com/science/article/pii/S2950008724000255CholestasisIntestinal atresiaMitchell–Riley SyndromeNeonatal hyperglycaemiaPancreatic hypoplasiaRFX6 gene |
| spellingShingle | Shria Sadhu Nibal Albitar Mai AlKhouly Aqeel Farooque Mitchell-Riley Syndrome: A rare genetic disorder, case report Rare Cholestasis Intestinal atresia Mitchell–Riley Syndrome Neonatal hyperglycaemia Pancreatic hypoplasia RFX6 gene |
| title | Mitchell-Riley Syndrome: A rare genetic disorder, case report |
| title_full | Mitchell-Riley Syndrome: A rare genetic disorder, case report |
| title_fullStr | Mitchell-Riley Syndrome: A rare genetic disorder, case report |
| title_full_unstemmed | Mitchell-Riley Syndrome: A rare genetic disorder, case report |
| title_short | Mitchell-Riley Syndrome: A rare genetic disorder, case report |
| title_sort | mitchell riley syndrome a rare genetic disorder case report |
| topic | Cholestasis Intestinal atresia Mitchell–Riley Syndrome Neonatal hyperglycaemia Pancreatic hypoplasia RFX6 gene |
| url | http://www.sciencedirect.com/science/article/pii/S2950008724000255 |
| work_keys_str_mv | AT shriasadhu mitchellrileysyndromeararegeneticdisordercasereport AT nibalalbitar mitchellrileysyndromeararegeneticdisordercasereport AT maialkhouly mitchellrileysyndromeararegeneticdisordercasereport AT aqeelfarooque mitchellrileysyndromeararegeneticdisordercasereport |