Child presents with Pathological fracture, Renal stone and Psychiatric symptoms. Most probable diagnosis is?
**Core Concept:** A pathological fracture is a fracture that occurs due to a disease or disorder, rather than a transient trauma. Renal stones and psychiatric symptoms are also important aspects of this question. Renal stones are calcium-containing mineral deposits that can obstruct urinary pathways, causing pain and potential complications. Psychiatric symptoms usually indicate underlying medical conditions.
**Why the Correct Answer is Right:** The correct answer is **D.** Primary hyperparathyroidism is a hormonal disorder resulting from an overproduction of parathyroid hormone (PTH) from an abnormal parathyroid gland. PTH increases calcium levels in the blood, leading to renal stones (calcification of the urine) and pathological fractures due to increased bone resorption. Psychiatric symptoms are also common in primary hyperparathyroidism and may include irritability, depression, and anxiety.
**Why Each Wrong Option is Incorrect:**
A. Hypercalcaemia (elevated calcium levels) is a potential feature of primary hyperparathyroidism, but it is not the main diagnosis when presented with pathological fracture, renal stones, and psychiatric symptoms.
B. Hypocalcaemia (low calcium levels) is usually associated with hypoparathyroidism, not primary hyperparathyroidism.
C. Acute renal failure is a potential complication of renal stones but is not the primary diagnosis for pathological fracture, renal stones, and psychiatric symptoms.
D. Dyslipidaemia (abnormal lipid levels) is not the primary diagnosis for the symptoms and signs mentioned in the question.
**Why the Correct Answer is Right:**
Primary hyperparathyroidism is the correct answer because it explains the symptoms and signs presented in the question:
1. Pathological fracture due to increased bone resorption.
2. Renal stones (calcification of urine due to elevated calcium levels).
3. Psychiatric symptoms (e.g., irritability, depression, anxiety).
**Clinical Pearl:** The presence of renal stones, pathological fracture, and psychiatric symptoms should prompt an evaluation for primary hyperparathyroidism, as the correct answer demonstrates.