What is the diagnosis for a 3-year-old girl presenting with severe oral pain, periodontal inflammation, ulceration, and necrosis, with a history of recurrent infections and laboratory results showing leukocytosis (elevated Leukocytes) and neutrophilia (elevated Neutrophils)?

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Differential Diagnosis for Severe Oral Pain in a 3-year-old Girl

Single Most Likely Diagnosis

  • Periodontal Disease with Possible Underlying Condition: The patient's history of recurrent oral pain, periodontal inflammation with ulceration and necrosis, and previous episodes of infections suggest an underlying condition that predisposes her to severe periodontal disease. The elevated leukocyte count with a predominance of neutrophils supports an infectious or inflammatory process.

Other Likely Diagnoses

  • Leukocyte Adhesion Deficiency (LAD): The patient's history of recurrent infections, including sinus infections and nonpurulent cellulitis, with isolation of common pathogens like Staphylococcus aureus and Streptococcus pyogenes, along with an elevated leukocyte count, could suggest LAD. This condition impairs the body's ability to fight off infections due to defective adhesion of leukocytes to the endothelium.
  • Chronic Granulomatous Disease (CGD): Although less likely given the specific pathogens involved, CGD is another immunodeficiency that could lead to recurrent infections and might present with oral manifestations, including periodontal disease.

Do Not Miss Diagnoses

  • Acute Leukemia: Although the patient's symptoms and lab results do not strongly suggest leukemia, it is crucial not to miss this diagnosis due to its severity and the need for prompt treatment. The elevated leukocyte count could be a red flag, but the differential count does not show a left shift or blast cells that are typically seen in leukemia.
  • Juvenile Idiopathic Arthritis (JIA) with Periodontal Involvement: JIA can sometimes present with systemic symptoms, including fever and elevated leukocyte counts, and can have oral manifestations. It's essential to consider this diagnosis due to its potential for severe complications if left untreated.

Rare Diagnoses

  • Papillon-Lefèvre Syndrome: A rare genetic disorder characterized by premature loss of both deciduous and permanent teeth due to severe periodontal disease, along with palmoplantar keratoderma. The patient's severe oral pain and periodontal inflammation could be suggestive, but the lack of mention of skin or other systemic findings makes this less likely.
  • Hyper-IgE Syndrome (Job Syndrome): Characterized by recurrent cutaneous and pulmonary infections, extremely high levels of IgE, and sometimes oral manifestations. The patient's history of recurrent infections could fit, but the specific details provided do not strongly support this diagnosis.

Professional Medical Disclaimer

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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