Article Text
Abstract
A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone’s complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon after birth. She was found to have bilateral megaureters, left hydronephrosis and asplenia. She was on lifelong prophylactic antibiotics and extra vaccines. She had two episodes of pseudo-obstruction of the small bowel, but barium follow-through was normal. She also had a large bowel obstruction and work-up for Hirschsprung disease confirmed the diagnosis. It was noticed that she had developmental delay and hypotonia, together with subtle dysmorphism. She also had failure to thrive and difficulty feeding. Exome sequencing revealed a diagnosis of Mowat-Wilson syndrome (MWS). This case shows a previously undescribed association of Shone’s complex, a complex left-sided obstructive heart defect, and MWS. It also highlights the usefulness of trio-exome sequencing in detecting such rare mutations.
- failure to thrive
- congenital disorders
- childhood nutrition (paediatrics)
- neonatal and paediatric intensive care
- developmental paediatrics
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Footnotes
Contributors WL wrote the initial draft of the manuscript and conducted literature review. AL edited the manuscript. NA edited the manuscript. JL identified the case, co-wrote the manuscript, edited the manuscript and submitted the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.