CROUZONS SYNDROME

(CS)

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Title

Role

Date/ Year

CS INTRODUCTION

( AND DEVELOPMENT) Crouzon syndrome was first described in 1912.

Crouzons is a genetic disorder characterized by the premature joining of certain bone of the skull (craniosynostosis) during development, which affects the shape of the head and face.

Many features of Crouzons syndrome result from early fusion of the skull during development.

Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets (eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped mandible (jaw).

Cases with Crouzons syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals.

Cases with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate).

CS INTRODUCTION

(AND DEVELOPMENT) The severity of these signs and symptoms varies

among affected people.

Patients with Crouzon syndrome are usually of

normal intelligence (but vary accordingly).

In Crouzon syndrome synostosis of 2 or more cranial

sutures may be involved, therefore there can be a

risk for increased intracranial pressure (ICP).

There is also a greater chance of hydrocephalus in

these infants than those with single suture fusion

and evaluation and close monitoring by the team

neurosurgeon is important.

CS INTRODUCTION

(AND DEVELOPMENT) After the newborn period, the multidisciplinary team

continues to evaluate the child's needs.

Audiology (hearing test) and speech evaluations are

important to insure good speech and language

development.

Assessment by the ophthalmologist is important,

especially if the eyelids are not protecting the eyes

completely or if there are eye muscle problems.

CS EPIDEMIOLOGY

Crouzon’s disease occurs in one of every 25,000 live births and accounts for 5 % of cases of craniosynostosis.

Crouzon syndrome with Acanthosis Nigricians (AN) is found in an estimated 5-10 % of all crouzon cases. (will be described briefly later!!).

CS is the most common craniosynostosis syndrome.

More than half of cases are new mutations.

Intracranial anomalies include hydrocephalus, Chiari 1 malformation (displacement of the cerebellar tonsils below the level of the foramen magnum) and hindbrain herniation (70 %).

CS GENETIC

INFORMATION Inherited in an autosomal dominant pattern, which

means one copy of the altered gene in each cell is sufficient to cause the disorder.

Mutations in the FGFR2 gene (chromosome 10) cause Crouzon Syndrome.

The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2.

This protein is important in bone growth, particularly during embryo development.

Mutations in FGFR2 probably over-stimulate signaling by the FGFR2 protein, which causes the bones of the skull to fuse prematurely.

CS GENETIC

INFORMATION In some cases, an affected individual inherits the

mutation from one affected parent.

These cases occur in people with no history of the

disorder in their family.

Crouzon syndrome with Acanthosis Nigricans (AN) is

caused by changes in the gene FGFR3 mapped on to

chromosome 4.

The cause is not currently known.

If parent has crouzon syndrome, there is a 50 %

probability that child will develop it.

CS ACANTHOSIS NIGRICANS

(AN) Just so that we cover the whole picture, I will describe AN.

What is AN?

Acanthosis Nigricans is a disorder that may begin at any age.

It causes velvety, light-brown-to-black, markings usually on the neck, under the arms or in the groin.

Acanthosis Nigricans is most often associated with being overweight.

Why is it associated with CS?

Probably genealogically related

No one really knows!!

CS AND FORMS OF

CRANIOSYNOSTOSIS FORMS OF

CRANIOSYNOSTOSIS

Localized

Coronal suture only – asymmetrical skull

Sagittal suture only – a long narrow skull

Generalized

Multiple sutures resulting in microcephaly and developmental delay

Genetic syndromes, e.g. with exophthalmos in Crouzon’s syndrome

CS CRANIOSYOSTOSIS AND SKULL

DEFORMITIES The cause of craniosynostosis is unknown.

The incidence of primary craniosynostosis is approximately 1 per 2000 births.

The prevailing hypothesis is that abnormal development of cranial base creates exaggerated forces on the dura mater that disrupt normal cranial suture development.

These deformities are much more common in males than in females and are associated with other skeletal anomalies.

The type of deformed skull that forms depends on which sutures close prematurely (which we will go onto to see shortly!!).

HYDROCEPHALUS Hydrocephalus is established as an increase in fluid

within cranial spaces.

Ultimately hydrocephalus is a complication in patients

with Crouzon Syndrome because of increase pressure in

cranial tissue.

Symptoms of Hydrocephalus in infants include abnormal

enlargement of the head; soft spot (fontanel) is tense

and bulging; scalp can appear thin; bones separated in

baby's head; prominent scalp veins; vomiting;

drowsiness; irritability; downward deviation of baby's

eyes; seizures; or poor appetite.

VENTRICLUOPERITONEAL SHUNT (VP)

Shunting is necessary to

drain the excess fluid and

relieve the pressure in

the brain.

This should be done as

soon as hydrocephalus is

recognized to give the

child the best possible

neurological outlook.

CS ANATOMY (SUTURES)

Sutures and

fontanelles in the

normal newborn

skull.

CS ANATOMY (SUTURES)

(Left) Sagittal synostosis

(superior view) with a

ridged, fused sagittal

suture,

bitemporal narrowing,

and (right) frontal and

occipital bossing.

CS CHARACTERISTICS

Crouzon Syndrome (CS)

Skull is prematurely fused and unable to grow normally (craniosynostosis)

Bulging wide-set eyes due to shallow eye sockets – OCULAR PROPTOSIS – (see page 14)

Small underdeveloped mandible (superior jaw)

Inferior slanting eyelids

High, narrow, arched palate

Acanthosis Nigricans (AN)

Dental abnormalities due to crowded teeth and narrow palate

Poor vision

Ear diseases and hearing loss in roughly 50 % of children

Difficulty in breathing due to small airway.

Darkened rough patches of skin found in the folds of the body

Signs of discolouration begin between ages 2 and 4

Does not advance after age 12

CS CT/RADIOLOGY

CS MRI IMAGE AND ILLUSTRATION

CS WORK-UP

Patient History

Physical Examination

Radiological studies that may include all or one of the following:

Plain radiography

CT or MRI

Examination of jaw structure to gain position of the maxilla relative to the mandible

Examining of the eyes to look for papilledema and evidence of ICP

Other abnormalities are sought, and the child’s mental development is carefully assessed.

An orthodontist should see the child and initiate treatment when indicated.

Sleep studies

Psychometric Evaluation

CS HISTORY AND EXAMINATION

HISTORY

Try to establish any causes of a complicated

birth

Duration of gestation

Birth weight

History of infant’s sleeping position is paramount

in differentiating craniosynostosis from

plagiocephaly without synostosis.

CS HISTORY AND EXAMINATION

EXAMINATION - Various but some include:

Head Circumference

Facial Examination – may show a tilt and contralateral flattening in

cases of deformational plagiocephaly.

Shape of Cranium

Eye Exam - ICP

Orthodontic Examination

Ear Exam

Look for AN – not apparent in all cases

Nasal Examination - Beaked-like nose

CS

SIGNS AND SYMPTOMS

SIGNS

Hearing loss

Deformity of middle ears

Absence of ear canals

Vision problems

Crossed eyes or involuntary eye

movement

Curvature of the spine

Headaches

In some cases, fused joints

Acanthosis Nigricans

SYMPTOMS

Flattened top and back of head

Flattened forehead and temples

Mid-face that is small and

located further back in the face

than normal

Compression of nasal passages,

often causing reduced airflow

through the nose

Misalignment of teeth

High-arched, narrow palate, or

cleft palate

CS CLINIAL

EVALUATION/ FINDINGS

Haider Kabbani M.D and Talkads Raghuveer M.D say the best time to intervene for surgical correction is when the infant is between 3 and 9 months for craniosynostosis but patients with signs of raised ICP, i.e. CS (may require urgent decompression).

Detection of Micro or Macro-cephaly caused by hydrocephalus.

Persistent ridging at the suture lines in an infant with an abnormally shaped head is suggestive of craniosynostosis.

CS PHARMACOLOGY INTERVENTION

Unfortunately I could not find anything in regards to CS and pharmacotherapy.

May be someone here knows something or would like to do some searching!!!

CS SURGICAL

INTERVENTION Surgical intervention really does depend upon the severity of CS and

associated abnormalities. Surgical approach should be made using a

multidisciplinary effort. The following surgical procedures are

performed in CS patients :

Frontal orbital advancement to allow the skull

to grow properly and to increase the size of the

visual sockets.

Mandible bone surgery.

Orthodontics work.

Surgical advancement of the mid-face.

CS

COMPLICATIONS

Major complication with the CS case is craniosynostosis

Increased intracranial pressure

Asymmetry of the face and facial features

Asymmetry of the orbits leads to strabismus

Intra-operative complications include massive blood loss and air embolism

Because of hydrocephalus formation, patients may have ventriculoperitoneal (VP) shunt performed and can be complex in this patient.

CS MANAGEMENT &

EDUCATION To prevent plagiocephaly, parents should be instructed

to alternate their infant’s sleep positions on the right and left occiput.

Limit seating in the car that maintains the supine position.

Exercises to relieve torticollis and positioning the rounded side of the head on the mattress may aid correct a flattened head.

Some cases may use skull-moulding helmets and this may be necessary.

Consult neurosurgeon if there is a lack of improvement or disease progression.

CS TREATMENT &

PROGNOSIS Ultimately if CS is diagnosed early there is very good

prognosis but it depends on the malformation severity.

In the majority of CS patients, surgical intervention is applied and it is important to get this in place as soon as possible.

This is a multidisciplinary approach.

Patients usually have a normal lifespan.

There are no treatments of beneficial use. More research is required for this particular department!!!

Have I sparked any interests???

IT REALLY IS A MULTIDISCIPLINARY

EFFORT!! Teams involved in a CS case: First and Foremost the Child’s Parents to make decisions.

Neurosurgeon

Paediatrician

Neuroradiologist

Plastic Surgeon

Oromaxillofacial Surgeon

Craniofacial Anesthetist

Orthodontist

Dentist

Orthopedist

Ophthalmologist

Clinical geneticist

Speech, Physical, and Occupational Therapists

Psychosocial team

REFERENCES

www.pruenergang.de/vdpp/surgery.html

www.kidsplastsurg.com/crouzon.html

http://ghr.nlm.nih.gov/ghr/

www.aafp.org

www.faces-cranio.org/Disord/Crouzon.htm

www.aocd.org/

www.emedicine.com/plastic/byname/congenital-syndromes.htm#target2

http://healthgate.partners.org/browsing/browseContent.asp?fileName=22576.xml&title=Crouzon%20Syndrome

www.umm.edu/ency/article/003019.htm

www.emedicine.com/PED/topic511.htm

www.neurosurgerytoday.org

Illustrated textbook of Paediatrics, 2nd Edition Lissauer et al.

Clinical Oriented Anatomy, 4th Edition, Moore et al.

Neuroanatomy through case studies, Blumenfield.

The Biology of Child Health: A Reader in Development and Assessment, Sarah Neill and Helen Knowles

THANK YOU FOR LISTENING!!!!

QUESTIONS???