Celebrities

Every week there is a new 'favourite' patient on the wards, one for whom everybody (even people who don't work here) wants to know the latest developments. In my first week it was a baby who had a large part of his head scarred by an infection. The celebrity in week two was a man with a 15x6 cm (ie: huge) venous ulcer of a leg and engorgement of the veins on his chest. This week the title goes to a 4-year-old boy who was admitted for a different reason but had strikingly unusual facies.

He had profuse proptosis (bulging eyes), a bulging fontanelle, turricephaly (a towering, cone-shaped head, caused by premature fusion of the coronal sutures, and sometimes the frontoethmoidal and sphenofrontal sutures), mid-face hypoplasia (arrested development of that area), hypertelorism (wide space between the eyes), and a protruding jaw. These features were noticed by his parents when he was 2 years old. He occassionaly had seizures, and was struggling at nursery. His twin (twins are common in this country despite the lack of assisted conception) had no similar problems.

The skull radiograph had a copper-beaten appearance which suggests raised intracranial pressure:

All this is a problem because

1. He is at risk of further brain damage
2. His airways can obstruct due to the mid-face hypoplasia
3. He can't close his eyes (ever) due to the proptosis, which causes lots of problems.

Common problems associated with proptosis

Infection (due to poor blinking)
Dehydration
Corneal abrasions and ulcers

Diplopia (double vision)
--displacement of the globes
--extraocular muscle function

Optic nerve compression
--decreased visual acuity
--RAPD (relative afferent pupillary defects)
--colour vision deficits
--visual field deficits

He was diagnosed with Crouzon syndrome, a rare autosomal dominant disease (so this is a sporadic case) caused by mutations in the fibroblast growth factor receptor-2 (FGFR2) gene. Crouzon's syndrome is a type of craniosynostosis, which is a group of conditions in which the skull sutures fuse prematurely. In Crouzon syndrome there are no bony abnormalities, which differentiates it from Apert syndrome in which there is syndactyl (fusion of the digits).

The treatment is as you'd guess multifactorial and complex, and not entirely possible in this setting, so he is being managed conservatively.

For detailed information and pictures, see:
http://www.health.adelaide.edu.au/paed-neuro/craniofacial.html
http://www.emedicine.com/ped/topic511.htm
http://www.emedicine.com/neuro/topic80.htm