MLA Domain 5 · Presentation

Delayed/ precocious puberty

6 conditions in Finalist present this way. Work down the list and ask what would separate each one from the next — that discriminator is the exam question.

classic presentation · 2

Autonomic neuropathy

Symptomatic postural hypotension with falls; severe gastroparesis; coexisting cardiac autonomic involvement

Cerebral palsy

Loss of previously-acquired skills = NOT cerebral palsy (which is static) → investigate a neurodegenerative/metabolic ca

recognised feature · 4

Depot injection (DMPA)

UKMEC: caution if multiple osteoporosis risk factors; age <18 (peak bone mass) and >45 are relative cautions; current br

Muscular dystrophies (Duchenne & Becker)

Cardiomyopathy and respiratory failure (the causes of death); a boy not walking by 18 months → check CK

Osteomalacia / rickets

Hypocalcaemic seizures/tetany (severe) → calcium

Osteomalacia & rickets

Symptomatic hypocalcaemia (tetany, seizures, prolonged QT) → calcium replacement