Recurrent episodes of vomiting and diarrhoea in a male child: a rare presentation of X-linked adrenoleukodystrophy

BMJ Case Rep. 2022 Aug 10;15(8):e249905. doi: 10.1136/bcr-2022-249905.

Abstract

Recurrent episodes of vomiting and diarrhoea in a child can present as a diagnostic dilemma and be easily misdiagnosed as recurrent viral gastroenteritis episodes. Primary adrenal insufficiency can present with recurrent episodes of vomiting and diarrhoea with the presence of metabolic acidosis and can be life-threatening if left undiagnosed and untreated. A high index of suspicion should be kept for diagnosing primary adrenal insufficiency in a child presenting with recurrent episodes of vomiting and diarrhoea with laboratory evidence of metabolic acidosis and hypoglycaemia. Primary adrenal insufficiency, in a male child specifically, should raise alarm for X-linked adrenoleukodystrophy (X-ALD). Very-long-chain fatty acids and confirmatory genetic testing for an ABCD1 gene mutation can help confirm the diagnosis. Addison's disease often presents prior to the onset of the cerebral form of X-ALD. Early diagnosis of X-ALD allows for MRI screening for the development of cerebral disease in its early stages when treatment with stem cell transplant can halt the disease and be lifesaving.

Keywords: Adrenal disorders; Genetics; Neurology; Paediatrics.

Publication types

  • Case Reports

MeSH terms

  • Addison Disease*
  • Adrenoleukodystrophy* / complications
  • Adrenoleukodystrophy* / diagnosis
  • Child
  • Diarrhea / etiology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Vomiting / etiology