AI Article Synopsis
- Miller-Dieker syndrome (MDS) is a rare genetic condition associated with severe brain malformations, facial abnormalities, and significant health problems, often leading to death in early childhood.
- A case study is presented of a premature infant with MDS who experienced unusual heart issues and sudden bowel ischemia, suggesting that cardiovascular problems may be more common in MDS patients than previously thought.
- The review emphasizes the importance of recognizing the lasting effects of MDS into childhood and the need for monitoring its serious clinical features throughout early development.
Article Abstract
Miller-Dieker syndrome (MDS) is a rare disease characterized by type I lissencephaly, craniofacial dysmorphisms, intellectual disability, seizures, and death in early childhood. We report a case of a premature infant with MDS with an anomalous right coronary artery from the pulmonary artery who developed sudden bowel ischemia. This case prompts the reconsideration of cardiovascular involvement in patients with MDS. In addition, this review highlights key clinical features and reviews the critical manifestations of MDS that persist into childhood. .
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10878796 | PMC |
| http://dx.doi.org/10.3928/19382359-20230613-02 | DOI Listing |
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