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Less common presentations include nipple retraction or discharge and diffuse skin thickening and oedema, mimicking inflammatory breast cancer [8].
Less common presentations include pneumothorax, lobar or segmental infiltrates, cysts, nodules and pleural effusions [ 63, 65].
Clinically, the most common presentations include Leigh syndrome, leuko-encephalopathy and other early-onset neurodegenerative disorders, as well as lactic acidosis, cardiomyopathy and exercise intolerance (6, 7).
More common presentations include symmetric enlargement of sellar content (66%), thickening of the pituitary stalk (56%), homogenous enhancement (51%) and occasionally asymmetry of the enlarged sellar content (18%) [ 17].
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The most common presentation included pain (67%), weight loss (65%), and jaundice (62%).
Less common mammographic presentations include diffuse involvement of the breast with an infiltrative mass or less often a negative mammogram.
Common emergency presentations include dental pain, bleeding, infection and trauma [ 3].
Other common clinical presentations include bilateral cataracts, type 2 diabetes mellitus, hypogonadism (with reduced fertility), skin ulcers, premature arteriosclerosis, osteoporosis, and cancer predisposition [ 1, 2].
Less common presentation patterns include cases with few, larger than usual, smooth-marginated or highly asymmetrical nodules (Fig. 5).
These presentations include survey report presentations, laboratory report presentations, project/assignment presentations as well as final year project presentations.
Other presentations include fever and constipation.
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