Management of emergency care, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)
Clara Blat, Elisenda Busquets, Teresa Gili, Assumpta Caixàs, Elisabeth Gabau, Raquel Corripio
Department of Paediatric Endocrinology, Parc Tauli Sabadell, Hospital Universitari, Universitat Autònoma de Barcelona, Sabadell, Spain
Am J Case Rep 2017; 18:637-640
Available online: 2017-06-07
Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals’ food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation.
CASE REPORT: We present the case of a 5-year-old boy diagnosed with Prader-Willi syndrome at neonatal age due to muscular hypotonia, who started growth hormone therapy at 20 months. He presented with two episodes of a rapidly progressing gastric dilatation that led to abdominal hypertension and secondary shock at the age of 2 and 5. No large amount of food was eaten before any of the episodes, and he had abdominal pain and vomiting on both occasions. On arrival at the emergency room, a nasogastric tube was placed and aspiration of food material was performed. Abdominal X-ray and CT scan revealed massive gastric dilatation. He was admitted at the Pediatric Intensive Care Unit and after a variable period of fasting, tolerated oral intake and could be discharged.
CONCLUSIONS: Gastric dilatation due to gastroparesis in PWS is a rare complication. However, it is a life-threatening situation and physicians should therefore maintain a high level of suspicion for gastric dilatation when patients present with warning symptoms such as abdominal pain or discomfort and vomiting.
Keywords: Gastric Dilatation, Gastroparesis, intra-abdominal hypertension, Prader-Willi Syndrome