Rickets: Model Model Clinical Case and Viva QnA

Clinical Case of Rickets

A 2-year-old boy is brought to the pediatric clinic by his parents with concerns about his delayed walking and bowed legs. The child was born full-term and exclusively breastfed until 12 months of age. His diet consists mainly of cereals and vegetables, with limited exposure to sunlight due to living in a northern climate.

On physical examination:

• Height and weight below the 3rd percentile for age
• Frontal bossing and delayed fontanelle closure
• Rachitic rosary (enlargement of the costochondral junctions)
• Widening of wrists and ankles
• Genu varum (bowed legs)

Laboratory findings:

• Serum calcium: 8.2 mg/dL (low normal)
• Serum phosphorus: 2.8 mg/dL (low)
• Alkaline phosphatase: 750 IU/L (elevated)
• 25-hydroxyvitamin D: 8 ng/mL (deficient)
• Parathyroid hormone: 85 pg/mL (elevated)

X-rays of the wrists and knees show cupping and fraying of the metaphyses, widening of the growth plates, and decreased bone density.

Based on the clinical presentation, laboratory findings, and radiographic evidence, the diagnosis of nutritional rickets due to vitamin D deficiency is made.

Varieties of Clinical Presentations of Rickets in Children

1. Classical Nutritional Rickets:
   • Bowed legs (genu varum) or knock knees (genu valgum)
   • Delayed walking or waddling gait
   • Frontal bossing and delayed fontanelle closure
   • Rachitic rosary (enlarged costochondral junctions)
   • Widening of wrists and ankles
2. Hypocalcemic Presentation:
   • Seizures or tetany, especially in infants
   • Muscle cramps
   • Laryngospasm or stridor
   • Irritability or lethargy
3. Growth and Developmental Delays:
   • Short stature
   • Delayed motor milestones
   • Poor weight gain
   • Delayed dentition
4. Respiratory Manifestations:
   • Recurrent respiratory infections
   • Harrison's groove (horizontal indentation of lower chest)
   • Pigeon chest deformity
5. Adolescent Rickets:
   • Diffuse bone pain, especially in weight-bearing joints
   • Muscle weakness
   • Difficulty climbing stairs or rising from a seated position
6. Renal Rickets:
   • Features of chronic kidney disease (pallor, hypertension)
   • Growth retardation more severe than in nutritional rickets
   • Bone deformities similar to nutritional rickets
7. Hypophosphatemic Rickets:
   • Lower limb deformities without significant muscle weakness
   • Dental abscesses and enamel defects
   • Normal or mildly short stature
8. Vitamin D-Dependent Rickets Type 1:
   • Early-onset rickets (within the first year of life)
   • Severe hypocalcemia and associated symptoms
   • Classical rickets features

Knowledge Check: Question and Answers for Medical Students & Professionals

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

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