Case 1: New onset of seizures in a five-year-old girl

Abstract

A five-year-old girl with a history of repaired tetralogy of Fallot and esophageal atresia presented to the emergency department after an unexplained spell, which her father described as jerking movements of her arms with her eyes closed. The episode lasted for 3 min. After the episode, she was floppy and proceeded to vomit. She appeared pale and sleepy with mild hypotonia. Her height was 98 cm (less than the fifth percentile) and her weight was 14.4 kg (less than the fifth percentile). Her weight for height was normal (between the 25th percentile and the 50th percentile) and her records showed a normal growth velocity. Her hemoglobin level was 79 g/L with a low mean corpuscular volume, and her liver enzyme and electrolyte levels were normal. Her blood glucose level was 1.8 mmol/L. She was treated with intravenous dextrose and recovered. Her parents reported that after her gastric pull-up surgery for esophageal atresia at six months of age, she had developed significant gastroesophageal reflux disease with poor gastric emptying. At two-and-a-half years of age, the gastric pull-up was revised and a ‘twist’ in the pull-up was noted with kinking at the level of the diaphragm. She was gastric tube-fed until six months of age, jejunal tube-fed until two-and-a-half years of age and nasogastric tube-fed until four years of age. Once oral feeds were started, she became a picky eater and had frequent dizzy spells. She felt weak at variable times during the day which resolved after a brief nap. On the day of the seizure she had eaten as usual. She was not taking any medications. A referral to the endocrinology department resulted in further testing, which revealed the diagnosis.