Joana Correia

Addison's disease - the difficulty of diagnosis

Introduction: Primary adrenal insufficiency is a rare disease, especially in pediatric age. Case report: We report the case of a teenager with astenia with four months’ evolution, causing repeated visits to the emergency department during the previous month due gastrointestinal symptoms and a ten kilograms weight loss. In admission the patient had a reasonable general condition, hydrated and without cutaneous hyperpigmentation. Laboratory results showed hyponatremia, increased levels of corticotropin with normal cortisol levels, increased levels of renin with decreased aldosterone levels and presence of antissuprarrenal antibodies, allowing the diagnosis of autoimmune primary adrenal insufficiency. The boy started treatment with hydrocortisone and fludrocortisone with favorable response. Discussion/conclusions: The diagnosis of Addison’s disease requires a high degree of suspicion due its unspecific symptomatology. This disease often presents gastrointestinal symptoms. Thus, towards a patient with hyponatremia accompanied by constitutional and gastrointestinal symptoms, we must always consider this diagnosis.

Symmetric asymptomatic reticular lesions of the skin

A 10-year-old boy, the second child of non-consanguineous parents, presented with asymptomatic, multiple, symmetrical, firm, whitish to skin-coloured papules and nodules, from 5 mm × 10 mm in size, which coalesced in a reticular pattern over the scapulae and extensor aspects of both upper arms (Fig. 1). He had normal development and intelligence. Other relevant physical findings included coarse facial features with retrognathism (Fig. 2), a systolic ejection murmur grade II/VI, mild hepatosplenomegaly and stubby fingers. His blood test analysis (hemogram, liver panel, renal function and ionogram) was unremarkable. Radiographies showed relative tapering of the first phalanges of several fingers of both hands, concave posterior surface of lumbar vertebral bodies and