CROUZON SYNDROME

CASE REPORT

This is a case report of an unusual case of a 12 year old child who presented to our department as a diagnosed case of Crouzon Syndrome with a post operative status of VP Shunt for reduction of Hydrocephalus. Hydrocephalus is common in crouzon syndrome because of Venous congestion.

Clinical Images

X-Ray showed : 

DISCUSSION

Crouzon syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome

affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the

branchial arches are important developmental features in a growing embryo, disturbances in their development

create lasting and widespread effects.

Causes

Associations with FGFR2 and FGFR3 have been identified.

Symptoms

As a very complicating result of the changes to the developing embryo, the symptoms are very pronounced features, especially in the facial areas. Low-set ears is a typical characteristic, as in all of the disorders which are called branchial arch syndromes. The reason for this abnormality is that ears on a fetus are much lower than those on an adult. During normal development, the ears "travel" upward on the head; however, in Crouzon patients, this pattern of development is disrupted. Ear canal malformations are extremely common, generally resulting in some hearing loss. In particularly severe cases, Ménière's disease may occur.

The most notable characteristic of Crouzon syndrome is cranial synostosis, but it usually presents asbrachycephaly, which results in the appearance of a short and broad head. Exophthalmos (bulging eyes due to shallow eye sockets after early fusion of surrounding bones), hypertelorism (greater than normal distance between the eyes), and psittichorhina (beak-like nose) are also symptoms. Additionally, a common occurrence is external strabismus, which can be thought of as opposite from the eye position found in Down syndrome. Lastly, hypoplastic maxilla (insufficient growth of the midface) results in relative mandibular prognathism (chin appears to protrude despite normal growth of mandible) and gives the effect of the patient having a concave face.

For reasons that are not entirely clear, most Crouzon patients also have noticeablyshorter humerus and femur bones, in proportion to the rest of their bodies, than members of the general population. A small percentage of Crouzon patients also have what is called "Type II" Crouzon syndrome, distinguished by partial syndactyly.

Diagnosis

Diagnosis of Crouzon syndrome usually can occur at birth by assessing the signs and symptoms of the baby. Further analysis, including radiographs, magnetic resonance imaging (MRI) scans, genetic testing, X-rays and CT scans can be used to confirm the diagnosis of Crouzon syndrome.

Incidence

Incidence of Crouzon syndrome is currently estimated to occur in 1 out of every 25,000 people out of the general population. 

Treatment

Surgery is typically used to prevent the closure of sutures of the skull from damaging the brain's development. Without surgery, blindness and mental retardation are typical outcomes. Craniofacial surgery is a discipline of plastic surgery. To move the orbits forward, plastic surgeons work with neurosurgeons to expose the skull and orbits and reshape the bone. To treat the midface deficiency, plastic surgeons can move the lower orbit and midface bones forward (this does not need neurosurgical assistance). For jaw surgery, either plastic surgeons have experience to perform these operations. It is rare to wear a custom-fitted helmet (or cranial band) for several months after surgery as that is only for single-suture "strip craniectomy" repair. Crouzon patients tend to have multiple sutures involved, most specifically bilateral coronal craniosynostoses, therefore an open operation is used rather than the strip craniectomy with helmeting.

Once treated for the cranial vault symptoms, Crouzon patients generally go on to live a normal lifespan.