ESPE Abstracts

Background: 14½ year old girl presented with increased skin pigmentation, weakness of limbs and walking difficulty and delayed puberty.Objective and hypotheses: To evaluate the girl for the aetiology of hyperpigmentation, neuromuscular weakness and delayed development of secondary sexual characters.Method: The girl was evaluated by neurologist and found to have development delay, sensory and motor neuropathy, ataxia, amyotroph...

Introduction: We describe a 4 month old term infant of a vitamin D deficient mother who presented with bronchopneumonia and cardiomegaly needed respiratory support. Despite resolution of bronchopneumonia he had persistent normal anion gap metabolic acidosis. In the process of investigating into symptomatic hypocalcaemia revealed rickets with 25-hydroxy-vitamin D (Vit D) deficiency and high parathyroid hormone (PTH) which led to distal renal tubular acidosis. B...