Differential Diagnosis for 11-year-old Female with Anxiety and Hypercalcemia
Single Most Likely Diagnosis
- Familial Hypocalciuric Hypercalcemia (FHH): This condition is characterized by hypercalcemia due to an inherited abnormality in the calcium-sensing receptor. It often presents with mild hypercalcemia, as seen in this patient, and can be associated with anxiety due to the hypercalcemia's effects on the nervous system.
Other Likely Diagnoses
- Vitamin D Intoxication: Excessive intake of vitamin D can lead to hypercalcemia. Given the patient's age, this could be due to accidental or intentional overdose, and anxiety could be a symptom of hypercalcemia.
- Hyperparathyroidism: Although less common in children, primary hyperparathyroidism can cause hypercalcemia. The normal TSH and T4 levels help to rule out thyroid-related causes, but do not exclude hyperparathyroidism.
- Idiopathic Hypercalcemia of Infancy: Though the patient is 11, some cases of idiopathic hypercalcemia can persist into childhood and adolescence, presenting with hypercalcemia and potential neurological symptoms like anxiety.
Do Not Miss Diagnoses
- Malignancy (e.g., Leukemia, Lymphoma): Although rare, malignancies can cause hypercalcemia through various mechanisms, including paraneoplastic syndromes. Missing a diagnosis of cancer could be fatal, making it crucial to consider despite its lower likelihood.
- Vitamin A Intoxication: Similar to vitamin D, excessive intake of vitamin A can lead to hypercalcemia. Given the potential for severe outcomes if untreated, it's essential to consider this possibility.
- Sarcoidosis: This autoimmune disease can cause hypercalcemia due to increased vitamin D conversion. While less common in children, it's a diagnosis that should not be missed due to its potential for serious complications.
Rare Diagnoses
- Williams Syndrome: A genetic disorder that can include hypercalcemia among its many features. It's characterized by distinctive facial features, intellectual disability, and a friendly demeanor, which might not be immediately apparent without further evaluation.
- Jansen's Metaphyseal Chondrodysplasia: A rare genetic disorder causing hypercalcemia and skeletal abnormalities. It's extremely rare and usually presents with more pronounced physical and skeletal findings.
- Hypercalcemia of Malignancy (e.g., PTHrP-mediated): While malignancy is considered under "Do Not Miss," specific mechanisms like PTHrP (parathyroid hormone-related protein) production by tumors are rare in pediatric populations but can cause significant hypercalcemia.