Quiz 16 - 10yo with excessive hair on the back - Scroll down for the answer

This 10 year old boy presented to the clinic with history of excessive hair on the back. He has had these since birth and is otherwise asymptomatic. Does not have weakness of his legs or loss of bowel/bladder control. No family history of similar condition. He is not on any medications. What is the diagnosis ?

Answer: Neural tube defect. A tuft of hair on the back in the midline is highly suspicious of underlying spinal cord and verterbral column anomalies. This boy had a mild variety of closed neural tube defect .

NTDs can be classified as open or closed depending on whether neural tissue has been exposed or not.

• Open NTDs frequently involve the entire CNS and are associated with C$F leakage. These have high incidence of infection and poor outcome.
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• Closed NTDs are localized and confined to the spinal cord and the brain is rarely affected. Neural tissue is not exposed and the defect is fully epithelialized, although the skin covering the defect may be dysplastic.

All of the following are examples of neural tube defects:

• Anencephaly
• Encephalocele
  
• meningocele
• meningomyelocele
• Craniorachischisis totalis
• Congenital dermal sinus
• Spina bifida aperta
  
• Myelomeningocele
• Meningocele
• Myeloschisis
• Congenital dermal sinus
• Lipomatous malformations
  
• Split-cord malformations
• Diastematomyelia
• Diplomyelia
• Caudal agenesis