What is the diagnosis for a 14-month-old boy with recurrent lobar pneumonia, persistent cough, and impaired respiratory function, with laboratory results showing leukocytosis, neutrophilia, and elevated C-reactive protein?

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Differential Diagnosis

  • Single most likely diagnosis
    • Chronic Granulomatous Disease (CGD): This condition is characterized by recurrent infections, particularly with catalase-positive bacteria such as Staphylococcus aureus, which is consistent with the patient's history of nonpurulent staphylococcal cellulitis and pneumonia with gram-positive cocci in clusters. The patient's slow symptom improvement and elevated leukocyte count also support this diagnosis.
  • Other Likely diagnoses
    • Leukocyte Adhesion Deficiency (LAD): This condition is marked by recurrent infections and impaired wound healing, which could explain the patient's slow recovery from infections and the presence of erythema and ulceration around the erupting teeth.
    • Hyper-IgE Syndrome (Job Syndrome): This condition is characterized by recurrent cutaneous and pulmonary infections, elevated IgE levels, and distinctive facial and skeletal features. The patient's history of recurrent pneumonia and cellulitis, as well as the presence of erythema and ulceration around the erupting teeth, could be consistent with this diagnosis.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
    • HIV Infection: Although less likely, HIV infection can cause recurrent infections and impaired immune function, making it a critical diagnosis to consider. The patient's recurrent pneumonia and slow symptom improvement could be consistent with HIV infection.
    • Tuberculosis: Although the patient's symptoms and laboratory results do not strongly suggest tuberculosis, it is a potentially deadly diagnosis that should not be missed, particularly in the context of recurrent pneumonia.
  • Rare diagnoses
    • Wiskott-Aldrich Syndrome: This rare X-linked recessive disorder is characterized by eczema, thrombocytopenia, and recurrent infections, which could explain the patient's symptoms. However, the absence of eczema and thrombocytopenia makes this diagnosis less likely.
    • Chediak-Higashi Syndrome: This rare genetic disorder is characterized by recurrent infections, impaired immune function, and distinctive oculocutaneous albinism. Although the patient's symptoms could be consistent with this diagnosis, the absence of albinism and other characteristic features makes it less likely.

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This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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