Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have less severe phenotypes, while retaining repre...
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2024-11-01
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| author | So Yoon Choi Yoo-Rha Hong Chi-Eun Oh Jung Hyun Lee |
| author_facet | So Yoon Choi Yoo-Rha Hong Chi-Eun Oh Jung Hyun Lee |
| author_sort | So Yoon Choi |
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| description | Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have less severe phenotypes, while retaining representative facial features. Mutations in the genes <i>NIPBL</i>, <i>SMC1A</i>, <i>SMC3</i>, <i>HDAC8</i>, and <i>RAD21</i> have been associated with CdLS, with mutations in <i>NIPBL</i> accounting for approximately 60% of cases. Herein, we present a case of CdLS accompanied by cholelithiasis and nephrolithiasis. A 9-year-old Korean boy presented with vomiting and abdominal pain. Abdominal ultrasonography revealed several gallstones and renal stones. Extracorporeal shock wave lithotripsy failed; therefore, cholecystectomy and nephrolithotomy were performed. Postoperative stone composition analysis revealed calcium oxalate as the primary component. CdLS was suspected based on the characteristic appearance and physical examination, with genetic testing confirming an <i>NIPBL</i> gene mutation. Simultaneous CdLS, cholelithiasis, and nephrolithiasis requires careful management and treatment tailored to each patient’s specific needs and challenges. |
| format | Article |
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| language | English |
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| spelling | doaj-art-77f8b82c367049e89d6eb7b937e9e3482025-08-20T02:57:12ZengMDPI AGChildren2227-90672024-11-011112143310.3390/children11121433Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case ReportSo Yoon Choi0Yoo-Rha Hong1Chi-Eun Oh2Jung Hyun Lee3Departments of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan 49267, Republic of KoreaDepartments of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan 49267, Republic of KoreaDepartments of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan 49267, Republic of KoreaDepartments of Pediatrics, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan 49267, Republic of KoreaCornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have less severe phenotypes, while retaining representative facial features. Mutations in the genes <i>NIPBL</i>, <i>SMC1A</i>, <i>SMC3</i>, <i>HDAC8</i>, and <i>RAD21</i> have been associated with CdLS, with mutations in <i>NIPBL</i> accounting for approximately 60% of cases. Herein, we present a case of CdLS accompanied by cholelithiasis and nephrolithiasis. A 9-year-old Korean boy presented with vomiting and abdominal pain. Abdominal ultrasonography revealed several gallstones and renal stones. Extracorporeal shock wave lithotripsy failed; therefore, cholecystectomy and nephrolithotomy were performed. Postoperative stone composition analysis revealed calcium oxalate as the primary component. CdLS was suspected based on the characteristic appearance and physical examination, with genetic testing confirming an <i>NIPBL</i> gene mutation. Simultaneous CdLS, cholelithiasis, and nephrolithiasis requires careful management and treatment tailored to each patient’s specific needs and challenges.https://www.mdpi.com/2227-9067/11/12/1433Cornelia de Lange syndrome<i>NIPBL</i>cholelithiasisnephrolithiasis |
| spellingShingle | So Yoon Choi Yoo-Rha Hong Chi-Eun Oh Jung Hyun Lee Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report Children Cornelia de Lange syndrome <i>NIPBL</i> cholelithiasis nephrolithiasis |
| title | Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report |
| title_full | Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report |
| title_fullStr | Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report |
| title_full_unstemmed | Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report |
| title_short | Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report |
| title_sort | cornelia de lange syndrome accompanied by cholelithiasis and nephrolithiasis a case report |
| topic | Cornelia de Lange syndrome <i>NIPBL</i> cholelithiasis nephrolithiasis |
| url | https://www.mdpi.com/2227-9067/11/12/1433 |
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