Article Text

Download PDFPDF

A rare cause of respiratory distress
  1. Department of Neonatology, British Columbia Children's Hospital, Vancouver, Canada

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Editor—We would like to describe a case of respiratory distress associated with haemodynamic compromise. This is a common clinical scenario, and the underlying cause is usually evident. Occasionally the cause is rare, and we report a case of respiratory distress caused by bilateral adrenal agenesis.

A baby girl was born at term to a diabetic mother. She remained well for the first six days, but on day seven she was transferred to our unit because of severe respiratory distress requiring intubation and ventilation. A chest radiograph showed a small pneumothorax and changes consistent with surfactant deficiency. Serum sodium concentration was 123 mmol/l, and serum potassium concentration was 7.0 mmol/l. A septic screen and cardiac echocardiography were normal. Because of persistent electrolyte abnormalities and refractory hypotension, a random cortisol measurement was taken and found to be 3 mmol/l (normal range 30–660 mmol/l). Adrenocorticotrophic hormone concentration was significantly raised at 341 pmmol/l (normal range 2–13 pmmol/l). Following intravenous hydrocortisone, her clinical condition improved dramatically allowing withdrawal of inotropic support and extubation within 48 hours. An abdominal ultrasound scan suggested absence of the adrenal glands which was later confirmed by MRI scanning. She was started on regular exogenous steroid replacement, and, on follow up aged 6 months, is thriving and developing normally.

Congenital adrenal agenesis is rare with only two reported cases in the literature.1 ,2 Two transcription genes, DAX-1 and SF-1, are known to be involved in the development of the adrenal glands.3 Analysis of the SF-1 gene showed it to be normal in our patient, and a DAX-1 abnormality was excluded on clinical grounds.

Infants of diabetic mothers are known to be at increased risk of surfactant deficiency. Antenatal and postnatal surfactant production is inhibited by glucocorticoid deficiency.4 The combination of both fetal hyperinsulinaemia and glucocorticoid deficiency would considerably impair surfactant production and may explain the severity of our patient's respiratory distress.

Both respiratory distress and electrolyte imbalances are common in the neonatal unit. Therefore when the diagnosis is not obvious, the search for causative factors must be broadened to ensure that rare but clinically important diagnoses are not missed.