Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of a 10-day-old male infant who presented to the emergency department with severe electrolyte imbalance and life-threatening arrhythmia. The parents reported a 3-day history of poor feeding and lethargy. On examination, he was bradycardic (heart rate of 65 beats/min) with signs of dehydration. His ECG showed broad complex bradycardia. Blood gas showed metabolic acidosis with hyponatraemia and hyperkalaemia. A probable diagnosis of congenital adrenal hyperplasia (CAH) with salt-wasting crisis was made and treatment was commenced. He was given saline bolus, nebulised salbutamol, calcium gluconate and hydrocortisone. Following the above interventions, his heart rate rose to 150 beats/min with a regular sinus rhythm within a period of 40 min. The diagnosis of CAH secondary to 21-hydroxylase deficiency with mutation in CYP21A2 was confirmed by genetic studies. He was discharged home with hydrocortisone, fludrocortisone and sodium chloride.
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PMID:Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study. 3070 Apr 62