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September 2023 Exam
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Demo Question
A 14-year-old girl presents with muscle weakness, lassitude, anorexia and weight loss over a six-week period.
Suddenly she collapses and becomes cyanosed and clammy. She has previously been well. Full-term normal delivery with no neonatal complications. Immunisations up to date. Mother has hypothroidism.
On examination she is apyrexial, with shallow breathing and thready pulse at 140/min. BP is 80/60 mmHg and oxygen saturation 85%. She has pigmentation along lines of pressure. She responds to pain.
What is the most likely diagnosis?
Adrenal insufficiency
Diabetes mellitus
Guillain-Barré syndrome
Muscular dystrophy
Myasthenia gravis
Key Learning Point
Addisons disease can present insidiously with generalised unwellness for several weeks plus abnormal pigmentation, followed by sudden collapse with shock and low blood pressure
Explanation
The history is of generalised unwellness for several weeks plus abnormal pigmentation, followed by sudden collapse with shock and low blood pressure. The picture suggests acute or chronic adrenal failure.
Addison's disease can occur as part of a polyendocrinopathy. Type 1 is associated with cutaneous candidiasis and ectodermal dysplasia. Type 2 is associated with thyroid disease and diabetes.
Treatment is vigorous salt replacement (N. saline) and hydrocortisone after baseline endocrine tests are done (ACTH, cortisol, renin, aldosterone, 17-0H progesterone, adrenal androgens).
