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‫إعداد الطالب ‪ :‬عبدالحميد محمد إبراهيم سيد أبوطالب‬

‫رقم الجلوس ‪22225 :‬‬


‫الفرقة ‪ :‬الثانية‬
Rickets is a pediatric disorder characterized by the softening and weakening of bones in children,
primarily due to prolonged and severe vitamin D deficiency. Other causes can include calcium or
phosphate deficiency, and certain metabolic disorders. Here's a detailed review of the diagnosis
of Rickets:

1. Clinical Presentation
Children with rickets may present with several signs and symptoms:

 Bone pain or tenderness


 Dental problems: Delayed tooth formation, defects in the tooth structure, increased
cavities.
 Muscle weakness
 Skeletal deformities: Such as bowed legs or knock knees, thickened wrists and ankles,
and chest deformities.
 Growth disturbances: Such as decreased growth velocity and short stature.
 Hypocalcemic symptoms: Such as tetany or seizures in severe cases.

2. Physical Examination
During physical examination, specific signs associated with rickets may be observed:

 Rachitic rosary: Swelling of the costochondral joints resembling beads.


 Craniotabes: Softening of the skull bones.
 Harrison’s groove: Indentation along the lower ribs caused by the diaphragm pulling on
weakened bones.
 Leg deformities: Such as bowing of the legs.

3. Biochemical Tests
These tests are crucial in diagnosing and assessing the severity of rickets:

 Serum calcium: Often low in rickets.


 Serum phosphate: Usually decreased due to renal phosphate wasting.
 Alkaline phosphatase: Elevated as a marker of increased bone turnover.
 Parathyroid hormone (PTH): Typically elevated as a compensatory response to
hypocalcemia.
 25-Hydroxyvitamin D levels: To assess vitamin D status; levels are typically low in
vitamin D deficiency rickets.

4. Radiographic Findings
X-rays are critical in confirming a diagnosis of rickets and assessing the severity of bone
changes:
 Widening, fraying, and cupping of the metaphyses of the long bones, particularly
around the wrists, knees, and ankles.
 Generalized osteopenia: Low bone density visible on X-rays.
 Delayed bone age.

5. Differential Diagnosis
It’s important to differentiate rickets from other conditions that can cause similar symptoms,
such as:

 Osteomalacia: The adult equivalent of rickets, where bone softening occurs after the
growth plates have closed.
 Genetic disorders: Such as hypophosphatemic rickets or disorders of vitamin D
metabolism.
 Nutritional deficiencies: Apart from vitamin D, deficiencies in calcium or phosphate.
 Bone diseases: Such as osteogenesis imperfecta or other metabolic bone diseases.

6. Special Tests
Depending on the suspected underlying cause, special tests may be required:

 Genetic testing: For familial forms of rickets.


 Urine tests: To evaluate renal phosphate excretion.

7. Management and Follow-Up


Following diagnosis, the treatment typically involves supplementation of vitamin D and calcium,
dietary modifications, and in some cases, orthopedic interventions for skeletal deformities.
Regular follow-up is essential to monitor the response to treatment and adjust as necessary.

A comprehensive approach to diagnosis, incorporating clinical, biochemical, radiographic, and


possibly genetic investigations, is key to appropriately manage and treat rickets, preventing its
complications and improving outcomes for affected children.
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