Van Niekerk, CecileEllis, ChristaMartin, Claire J.2025-07-242025-07-242025-03Cecile van Niekerk, Christa Ellis & Claire Martin (2025) Case study: nutrition and hydration support in a child with Cornelia de Lange and short bowel syndrome on home parenteral nutrition, South African Journal of Clinical Nutrition, 38:2, 109-112, DOI: 10.1080/16070658.2025.2461884.1607-0658 (print)2221-1268 (online)10.1080/16070658.2025.2461884http://hdl.handle.net/2263/103580Cornelia 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.en© 2025 The Author(s). Open Access article distributed under the terms of the Creative Commons License [CC BY 4.0] http://creativecommons.org/licenses/by/4.0/.Cornelia de Lange syndrome (CdLS)Parenteral nutritionShort bowel syndromeCase studyArticle