ESPE Abstracts

Background: Adrenal crisis is a life-threatening condition caused by either primary adrenal insufficiencyor hypothalamic-pituitary-adrenal (HPA) axis dysfunction, commonly due to chronic use of high-dose glucocorticoids. Clinical presentation, often with gastrointestinal symptoms (weakness, nausea, vomiting, epigastric pain) poses clinical challenges, sometimes leading to an incorrect diagnosis of gastroenteritis.

Material: We present a clinical case of a boy with Duchenne Muscular Dystrophy and acute adrenal insufficiency.

Case presentation: A 6-year-old boy with a past medical history of Duchenne Muscular Dystrophy (DMD) treated with deflazacort (0.9 mg/kg/day), presented to theEmergency Department with emesis that started hours ago, abdominal pain, weakness and loss of appetitefollowing 10 days of mild diarrhea. His molecular genetic report detected the deletion of exons 46-50 in the Dystrophin gene. During the physical examination the boy was hemodynamically stable, mildly tachycardic(Temperature 36.1°C, SatO2 97%, Heart rate 128/min, Blood pressure 105/73mmHg) and had flushing. He was ambulatory with assistance and presented pseudohypertrophy of the calves and a positive Gower’s sign. Laboratory testing revealed elevated transaminases (SGOT 199 U/L, SGPT: 315 U/L) and CK (6000 U/L), hyponatremia (Na 133mmol/l), hyperkalemia (K+5,2mmol/L), hypoglycemia (Glu 45mg/dl) and metabolic acidosis (pH 7.24, HCO3 17mmol/L). The electrocardiogram was normal. The boy’s chronic treatment with deflazacort was discontinued five days ago on the parents' own initiative, due to the diarrhea. Based on the clinical status and laboratory findings, the child was diagnosed with acute adrenal insufficiency. Treatment with emergency intravenous stress dosehydrocortisone and fluid replacement with dextrose and sodium was initiated, with immediate clinical and laboratory improvement. The patient was then transferred to a specialized pediatric endocrinology unit, where the parents were educated about hydrocortisonestress dosing plans and the dangers of abruptdiscontinuation of chronic glucocorticoid treatment.

Conclusion: Glucocorticoids are the cornerstone in the treatment of DMD. Deflazacort is a new synthetic glucocorticoid commonly used in children with DMD due to its favorable side effect profile. Considering that its anti-inflammatory potency is approximately 10-20 times higher than prednisolone and 40 times higher than hydrocortisone, its chronic use in therapeutic doses causes secondary adrenal insufficiency and its abrupt cessation can lead to adrenal crisis. It is imperative that all families are educated about stress dosing and recognizing the symptoms of adrenal crisis.