[Clinical thinking and decision making in practice: a full-term neonate with misunderstood respiratory insufficiency]

A fullterm newborn boy developed severe respiratory insufficiency, multiple air leaks and severe pulmonary hypertension, leading to his death on the third day of life. Family history revealed that a sister of the patient had died earlier after a similar course with respiratory problems. The most common causes of respiratory insufficiency could be subsequently excluded. After extensive postmortem investigation alveolar proteinosis was found in the lung tissue. DNA investigation was then performed in the parents, and both appeared to be heterozygotic for the 121ins2 mutation. This finding suggests both children in this family to have been homozygotic for the 121ins2 mutation resulting in a lack of synthesis of surfactant protein B (SP-B). Homozygotic SP-B deficiency in the newborn is a fatal disease with no curative perspectives, except for lung transplantation and gene therapy.