Cushings Disease

Question 1

A 7 year old bow was brought in by his mum with a headache. Upon examination, he had a blood pressure of 125/80mmHg. His BMI was in the 97th gentile, and he had Cushingoid features.

Answer 1

Impression
Given cushingoid features, blood pressure in hypertensive range for patient of this age, and high BMI, these clinical features are suggestive of Cushings disease. I am most concerned about an ACTH-secreting pituitary adenoma.

DDx
- Cushings disease: pituitary adenoma,
- Adrenal hyperplasia, adrenal malignancy
- Symptomatic HTN (secondary causes)
o pheo
o renal artery stenosis
o hyperthyroid
o stimulants
- exogenous steroid administration

Question 2

Cushings disease - Assessment

Answer 2

Assessment
Given marked hypertension falling within 95th gentile, this would be in keeping with hypertensive urgency/crisis so would start with A to E assessment, looking for any evidence of end-organ damage

Utilise paeds assessment triangle
- appearance: AVPU
- breathing/airway
- circulation

Question 3

Cushings disease - History

Answer 3

History
- HTN: headache, visual change, oedema, a
- Cushings: cataracts, hyperpigmentation, ulcers, fat deposition, striae, thin skin, hypertension, hyperglycaemia, diabetes (polydipsia, polyuria), proximal myopathy, depression
- Neurological symptoms from mass effect.
- Paeds Hx:

Question 4

Cushings disease - Examination

Answer 4

Examination
- General appearance + vitals: cushingoid features (moon facies, buffalo hump, central adiposity, striae, etc, bruising, short )
- Growth measurements and plot on growth chart
- Cardiorespiratory examination
- Abdominal exam: adrenal masses
- Neuro exam: mass effect and focal neuro
- HTN end organ: fundoscopy

Question 5

Cushings disease - Investigations

Answer 5

Investigations
Key/diagnostic
- MRI Brain with IV contrast, MRI sella for pituitary mass
- Low (overnight) then high-dose dexamethasone suppression test, serum ACTH, renal/adrenal US or MRI looking for adrenal mass in explanation of cushings sydrome.

• bedside: 24-hour urinary cortisol, late-night salivary cortisol
• Bloods: Serum ACTH, FBC, CRP/ESR, UEC, pituitary panel, metabolic panel

Question 6

Cushings disease - Management

Answer 6

Management
- Referral to paeds endocrine for further workup and investigation.

Supportive
- adrenal enzyme inhibitors
- manage any complications (central diabetes insipidus)
- regular review and F/U for complications of HTN

Definitive
- Paeds neurosurgeon for surgical excision of pituitary adenoma via transphenoidal surgery. comes with a number of risks (optic chiasm, internal cerebral artery)
- renal consult considering hypertension
- Radiation treatment
- post pituitary GH replacement: close monitoring of growth.