Diagnostic difficulties of Addison's disease in children: a case report

Autori

  • Celeste Casto Department of Human Pathology of Adulthood and Childhood, University of Messina.
  • Giorgia Pepe Department of Human Pathology of Adulthood and Childhood, University of Messina.
  • Tommaso Aversa Department of Human Pathology of Adulthood and Childhood, University of Messina.
  • Mariella Valenzise Department of Human Pathology of Adulthood and Childhood, University of Messina.
  • Malgorzata Wasniewska Department of Human Pathology of Adulthood and Childhood, University of Messina.

DOI:

https://doi.org/10.6092/1828-6550/APMB.108.1.2020.CCS2

Parole chiave:

Addison’s disease, primary adrenal insufficiency, autoimmune adrenalitis, anorexia nervosa, eating disorders

Abstract

Addison’s disease is a rare chronic endocrine disorder resulting from primary adrenal insufficiency. Symptoms are non-specific and can arise insidiously, including asthenia, muscular weakness, weight loss, irritability, depression, loss of appetite, dyspepsia, nausea and vomiting. A peculiar clinical sign of Addison’s disease is hyperpigmentation of skin and mucous membrane due to overproduction of pro-opiomelanocortin (POMC), precursor of ACTH and MSH (melanocyte stimulating hormone). Without therapy or in the course of triggering events such as infections, surgery or trauma the presentation can be dramatic and may cause an adrenal crisis, a potentially lethal medical emergency. Biochemical investigations are essential for diagnosis and commonly reveals electrolyte abnormalities (hyponatraemia and hyperkalaemia), hypoglycaemia, reduced cortisol levels and increased levels of ACTH. The lack of response to ACTH stimulation test confirms the primary adrenal insufficiency. Treatment for Addison's disease is based on replacing missing cortisol, the most commonly used drug is hydrocortisone often in association with fludrocortisone as replacement for the missing aldosterone. Due to its non-specific presentation, identification of this condition is difficult and can be confused with other disorders, for example eating disorders. We report a case of a young boy with Addison’s disease mistaken for anorexia nervosa.

Riferimenti bibliografici

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Dowloads

Pubblicato

2020-06-18

Fascicolo

V. 108 N. 1 (2020)

Sezione

CLINICAL CASE SEMINAR

Licenza

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