Head Malformations

Question 1

What are diagnostic criteria for macrocephaly and microcephaly?

Answer 1

2 sd above or below normal HC for age.

Question 2

An infant born with prematurity is seen for a checkup at adjusted age of 6 months and his head circumference seems larger compared to his length and weight.

• Is this abnormal?
• What test would you do to sort this out?

Answer 2

• Not necessarily: In premature infants, head growth may recover faster than somatic growth.
• Head ultrasound.

Question 3

Name two benign causes of macrocephaly that occur in normal infants.

Answer 3

• Isolated enlargement of subarachnoid space
• Familial megalencephaly (The parents will have had large heads also.)

Question 4

On physicial exam, how can secondary microcephaly (due to infection for example) be differentiated from craniosynostosis?

Answer 4

If the head shape is abnormal and/or there are thickened suture lines, then this is most likely craniosynostosis. If infection is causing microcephaly, the head shape and sutures should seem otherwise normal.

Question 5

This is the most common type of plegiocephaly.

1. What is it called?
2. Which suture is fused prematurely?

Answer 5

1. Scaphocephaly
2. Sagittal fusion

Question 6

This is the second most common type of plegiocephaly.

1. What is it called?
2. Which suture is fused prematurely?

Answer 6

1. Anterior plegiocephaly
2. Coronal fusion

Question 7

This is the third most common type of plegiocephaly.

1. What is it called?
2. Which suture is fused prematurely?

Answer 7

1. Trigonocephaly
2. Metopic fusion

Question 8

What is the most common cause of plagiocephaly?

Answer 8

Back-to-sleep.

Question 9

Dolichocephaly is another name for what type of plagiocephaly?

Answer 9

Scaphocephaly which is the most common type note related to back-to-sleep. It has a 4:1 male predominance.

Question 10

Name four syndromes commonly associated with craniosynosthosis.

Answer 10

1. Crouzon
2. Apert
3. Carpenter
4. Pfeiffer

Question 11

Of the four craniosynosthosis syndromes, which is associated with normal IQ and normal hands and feet?

Answer 11

Crouzon

Question 12

Which carniosynosthosis is most commonly associated with syndactyly as well?

Answer 12

Apert and Carpenter Syndromes.

Pfeiffer can have finger and toe abnormalities as well but syndactyly is particularly assocated with these other two. Crouzon usually has normal fingers and toes.

Question 13

A 13 month old infant is being seen for abnormal head shape. She has bulging eyes and raised eyebrows that are fairly symmetric. There are no signs of delayed cognitive development on 12 month milestone assessments. There are no hand or foot malformations. You suspect a syndrome.

1. What syndrome do you suspect?
2. What has caused the abnormal head shape?
3. The mother asks about using helmet therapy. Would this be recommended?

Answer 13

1. Crouzon
2. Bilateral premature closure of coronal sutures.
3. No because helmet therapy is most effecting at age 3-4 months. Instead, the child needs head CT imaging and referral to surgery.