P6 CASE SCENARIO

Question 1

A 13-month-old boy is brought to the emergency department due to cough and increased work of breathing. On physical examination, he is tachypneic and has perioral cyanosis. A chest radiograph shows bilateral interstitial opacities. Review of his medical records shows a recurrent history of otitis
media, pneumonia, and thrush as well as chronic diarrhea and failure to thrive. The patient is admitted to the hospital and undergoes bronchoscopy. Analysis of the bronchoalveolar lavage fluid shows Pneumocystis jirovecii.
what is your diagnosis ?

Answer 1

Severe combined immune deficiency

Question 2

A ?-month-old boy is brought to the physician by his parents due to irritability and white patches in his mouth. His past medical history is significant for 3 episodes of otitis media and 2 episodes of bronchiolitis that have required hospitalization. He also has a history of chronic loose stools. The child is small for his age and ill-appearing. Head and neck examination shows white patches consistent with oral candidiasis but is otherwise normal. Auscultation of the lungs shows expiratory
wheezing. Cardiac examination is within normal limits.Serum protein electrophoresis shows a very low gamma globulin level. Chest x-ray reveals an absent thymic shadow. What is the most likely diagnosis?

Answer 2

Severe combined immunodeficiency