Recurrent convulsion with curious hair and skin changes in a 7-month-old

Authors


  • We acknowledge that all authors have contributed significantly, and that all authors are in agreement with the content of the manuscript.
  • Conflicts of interest: None.

Question

This 7-month-old infant presented to the clinic with history of recurrent convulsions and delayed milestones. The perinatal period was uneventful; the convulsions started from the second month of life. On primary examination, the face and hair were noted to have curious features. (Fig. 1a,b,c) The limbs were hypotonic. What is the diagnosis? (answer on page 420)

Figure 1.

(a) Face of the infant showing the pale, doughy and lax skin with pudgy cheeks. The eyebrows are sparse and broken. (b) The scalp showing sparse, silvery scalp hair and sparse eyebrows. (c) Close-up view of the scalp showing kinky, steel wool-like hair. Inset – The hair is twisted upon itself at places (pili torti).

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