Hypoglycaemia is a one of the commonest presentation of an ill child. Hyponatraemia during illness is mostly presumed to be related to syndrome of inappropriate anti diuretic hormone secretion (SIADH). We would like to present an interesting case of hypoglycaemia and hyponatraemia.
A four-year-old boy presented with a two-day history of intermittent fever, vacant episodes, and seizures. He was noted to be hypoglycaemic with laboratory glucose of 1.2 mmol/l and sodium of 124 mmol/l. He was treated with intravenous dextrose, and subsequently chest X-ray suggested bilateral pneumonia. He was treated for this with antibiotics and dextrose. He had a further episode of hypoglycaemia and subsequently he made a full recovery with sodium and glucose returning to normal. A Synacthen test and glucagon stimulation test showed a flat curve of cortisol response. His ACTH was 4083 ng/l (range 050). His hypoglycaemia screening blood tests were normal.
His mother later gave a history that he does not form tears on crying, suggestive of alacrima. He was previously healthy apart from daily episode of persistent effortless vomiting starting at age of 2 year. Investigations ruled out gastro-oesophageal reflux apart from a finding of tight pylorus on endoscopy. He is due to undergo further investigation of lower oesophageal sphincter to confirm clinical diagnosis of achalasia. He has been commenced on Hydrocortisone, and his hypoglycaemia has not recurred yet.
We suspect him to have the AAA (Algrove) syndrome, which consists of a triad of adrenal insufficiency, achalasia of the cardia, alacrima. It has been associated with the abnormalities of AAAS gene on chromosome 12q13.
This case reflects the need for a full history and tangential thinking in unusual clinical situations like hypoglycaemia and hyponatraemia in a young child.
09 - 11 Nov 2011
British Society for Paediatric Endocrinology and Diabetes