Case study: nutrition and hydration support in a child with Cornelia de Lange and short bowel syndrome on home parenteral nutrition
Cornelia de Lange syndrome (CdLS) (NIPBL variant) is a rare genetic disorder, characterised by intellectual and congenital abnormalities, ultimately resulting in growth and developmental delays. This case report describes a 7-year-old boy presenting with CdLS. The patient had a percutaneous endoscop...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2025-04-01
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| Series: | The South African Journal of Clinical Nutrition |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/16070658.2025.2461884 |
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| Summary: | Cornelia de Lange syndrome (CdLS) (NIPBL variant) is a rare genetic disorder, characterised by intellectual and congenital abnormalities, ultimately resulting in growth and developmental delays. This case report describes a 7-year-old boy presenting with CdLS. The patient had a percutaneous endoscopic gastrostomy (PEG) placed at the age of 2 due to malnutrition, feeding difficulties, and gastro-oesophageal reflux disease. At 5 years he presented with a midgut volvulus, necessitating surgical removal of necrotic bowel resulting in short bowel syndrome (intact colon, no ileo-caecal valve and 90 cm of small bowel remaining). Over the 3-month hospitalisation period the patient was weaned from total parenteral nutrition (PN) to a home oral diet and PEG feeds in combination with supplemental PN. All meals were fed orally and finished via the PEG. Combined feeding (oral, enteral, and parenteral) management resulted in a 1.5 kg (9.9–11.4 kg) weight gain over the 3-month hospitalised period. Mid upper arm circumference improved from –5.7 Z-score to –2.7 Z-score. Despite increases in food intake and PEG feeds, a PN dependency index of 68% indicated a continued reliance on supplemental PN. This unique case illustrates the simultaneous feeding via three administration routes while transitioning from hospital to home-based care. |
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| ISSN: | 1607-0658 2221-1268 |