Question

A young boy has retarded physical and mental development. X-rays reveal fragmentation of the epiphyses and the presence of wormian bones. What is the diagnosis?

• A. Hypopituitarism
• B. Hypothyroidism
• C. Hypogonadism
• D. Scurvy

Hint:

Combined growth and mental delay with fragmented epiphyses and wormian bones on x-ray points to hypothyroidism.

Answer 1

The Correct Option is B

Step 1: Note the two-part delay.
The boy has both retarded physical growth and retarded mental development together. This combination of stunted growth plus intellectual delay is the hallmark of congenital hypothyroidism, since thyroid hormone is needed for both bone growth and normal brain development.

Step 2: Recall the x-ray findings of hypothyroidism.
In hypothyroidism, the centres where bone grows, the epiphyses, mature and ossify unevenly, giving a patchy, fragmented, stippled look on x-ray, called epiphyseal dysgenesis. The skull also shows wormian bones, extra small bones that form within the sutures, because normal skull ossification is delayed.

Step 3: Rule out hypopituitarism.
Growth hormone deficiency slows physical growth and delays bone age, but on its own it does not usually cause significant mental delay or the classic fragmented epiphyses and wormian bones seen here, since growth hormone is not essential for brain maturation the way thyroid hormone is.

Step 4: Rule out hypogonadism.
Hypogonadism delays puberty and can affect the growth spurt at that stage, but it does not cause mental retardation or the bony changes described, and it would not usually present this early.

Step 5: Rule out scurvy.
Scurvy comes from vitamin C deficiency and gives bone pain, gum bleeding, and a ground glass appearance with a white line at the metaphysis on x-ray, along with subperiosteal haemorrhages, not fragmented epiphyses or wormian bones, and it does not cause mental retardation.

Final Answer:
Retarded growth and mental development with fragmented epiphyses and wormian bones point to hypothyroidism.