A 1-year-old child presents with craniotabes, frontal bossing, rachitic rosary (enlarged costochondral junctions), and bowing of the legs upon weight-bearing. Serum alkaline phosphatase is elevated, with low serum phosphate and normal-to-low calcium. What is the diagnosis?

Answer and explanation

Correct answer: C. Nutritional rickets (Vitamin D deficiency)

  1. Step 1: Nutritional rickets is caused by deficient vitamin D intake or inadequate sunlight exposure, leading to defective mineralization of growth plates and osteoid matrix in growing bones.
  2. Step 2: Classic physical findings include widened wrists, bowing of weight-bearing long bones (genu varum), rachitic rosary, and delayed fontanelle closure.
  3. Step 3: Treatment involves vitamin D and calcium repletion.
Answer
Nutritional rickets (Vitamin D deficiency).
Why not the others: 'Osteogenesis imperfecta' causes bone fragility, recurrent fractures, and blue sclerae; 'Scurvy' is characterized by painful subperiosteal hemorrhages, corkscrew hairs, and bleeding gums; 'Achondroplasia' is an autosomal dominant form of short-limbed dwarfism with normal bone biochemistry.

Practise more Pediatrics and Neonatology.

Free questions with an explanation for every one, and full timed Egyptian Medical Licensing Examination (EMLE) mock tests.

All Pediatrics and Neonatology questionsTake a mock test

More Pediatrics and Neonatology questions