Differential Diagnosis

The patient presents with a wide open anterior fontanelle, frontal bossing, microcytic hypochromic anemia, and abnormal laboratory results. Here is a categorized differential diagnosis:

• Single Most Likely Diagnosis

  • Rickets: Justification - The presence of a wide open anterior fontanelle, frontal bossing, and microcytic hypochromic anemia in a child suggests a diagnosis of rickets. Rickets is a disease caused by vitamin D deficiency, leading to softening of bones in children. The low phosphorus level (4.9) and normal calcium level (9.3) also support this diagnosis, as vitamin D deficiency can lead to impaired phosphate absorption.

• Other Likely Diagnoses

  • Chronic Disease (e.g., Chronic Infections, Inflammatory Bowel Disease): Justification - The patient's microcytic hypochromic anemia, elevated ESR (45), and abnormal liver function (SGPT 45) could be indicative of a chronic disease process. Chronic diseases can lead to anemia of chronic disease, which is microcytic and hypochromic.
  • Nutritional Deficiencies (e.g., Iron Deficiency): Justification - Although the patient has microcytic hypochromic anemia, which can be seen in iron deficiency, the presence of other symptoms like a wide open anterior fontanelle and frontal bossing suggests that the anemia might be part of a broader syndrome like rickets. However, iron deficiency remains a consideration, especially given the anemia's characteristics.

• Do Not Miss Diagnoses

  • Leukemia or Lymphoma: Justification - Although less likely given the specific constellation of symptoms, any abnormality in blood cell counts (like the lymphocytosis here) warrants consideration of hematologic malignancies. The normal 2D echo and lack of other specific symptoms make this less likely, but it's crucial not to miss such diagnoses due to their severity.
  • Congenital or Acquired Immunodeficiency: Justification - The abnormal lymphocyte and neutrophil counts could suggest an immunodeficiency. While the patient's symptoms do not strongly point towards this, immunodeficiencies can present with a wide range of symptoms, including infections and failure to thrive, which might not be immediately apparent.

• Rare Diagnoses

  • Genetic Disorders (e.g., Osteogenesis Imperfecta, Hypophosphatasia): Justification - These disorders can present with bone abnormalities and might mimic some of the patient's symptoms. However, they are rare and would typically have other distinguishing features.
  • Endocrine Disorders (e.g., Hypoparathyroidism): Justification - Certain endocrine disorders can affect calcium and phosphorus metabolism, leading to bone abnormalities. The patient's normal calcium level makes this less likely, but it remains a consideration in the differential diagnosis due to the phosphorus level and the potential for complex endocrine interactions.