Dysplasia: spondylo-epiphyseal congenital

Congenital bone condition that affects the vertebrae and the extremities of long bones of the upper and lower limbs. The form known as 'congenital' (spondyloepiphyseal dysplasia congenita) is one of the skeletal abnormalities (cfr Kniest, Stickler, spondylometaepiphyseal dysplasia type Strudwick) caused by a mutation in the COL2A1 gene (on 12q13) which codes for the alpha-1 chain of collagen type II  found primarily in cartilage and the eye vitreous humor. 

Clinical findings:

-         short stature (short trunk) - and short limbs at birth

-         hypoplasia of the bones of midface, sometimes cleft palate

-         clubfeet

-         hypoplasia of the odontoid process that causes signs of spinal cord compression around the age of 5-10 years

-         appearance of a kyphoscoliosis in childhood that may cause an important pulmonary restrictive syndrome

-         severe myopia can lead to retinal detachment; sometimes cataracts or glaucoma

-         coxa vara

-         sometimes hearing loss (25%)

-         early osteoarthritis with progressive limitation of joint mobility

-        tracheobronchomalacia with important lethal risk due to respiratory failure early after birth or during infanthood


Anesthetic implications: 

check the stability of the atlas-axis joint because there is a major risk of spinal cord compression; short stature: careful selection of the diameter of the endotracheal tube and risk of bronchial intubation; facial dysmorphism (midface hypoplasia): risk of difficult intubation; abnormal vertebrae, which can make a block neuraxial technically difficult to achieve; risk of narrow lumbar canal; spinal cord at risk of peroperative ischemia, mostly in case of severe thoracic cyphosis; possible mental retardation; poor ventilatory function.



       EXPERT CONSENSUS for MANAGEMENT:    

Surgical morbi-mortality is higher than in the normal population and the risk of anesthetic complications is very high: these patients must therefore be managed in facilities where care of those complications can be taken.

It is why :

-        a full neurological examination is necessary before general or locoregional anesthesia

-        imaging (MRI or CTscan) of the full spine is recommended

-        a flexion/extension MRI of the cervical spine is necessary if there is any concern about its stability

-        polysomnography, respiratory functional tests (restrictive or obstructive syndrome) and cardiac evaluation (echocardiography) must be considered before an anesthesia

-        morphological and functional anomalies of the upper airway, a decrease in mobility of the cervical spine and bronchial airway anomalies increase the morbidity and mortality of anesthesia

-        a sedative premedication can be administered before anesthesia

-        for intubation, a videolaryngoscope and a intubating fiberscope must be immediately available

-        tracheostomy can be extremely difficult in those patients, particularly in emergency; it is crucial to identify the position of the cricothyroid membrane (XRays, echography) before anesthesia

-        extubation must be preferably done in the operating room; if this may not be the case, an experienced team must be present

-        in patients in whom a fragility of the spinal cord is suspected (concept of spinal cord at risk : significant cyphosis, risk of hypotension, long lasting surgery, difficult surgical positioning), neurological monitoring must be done during the whole procedure, and it is better to avoid epidural anesthesia


Reference:
White KK, Bompadre V, Goldberg MJ, Bober MB, Cho T-J et al.  
Best practices in peri-operative management of patients with skeletal dysplasias.
Am J Med Genet 2017 ; 173A : 2584-95



References : 

-         Redl G. 
Massive pyramidal tract signs after endotracheal intubation : a case report of spondyloepiphyseal dysplasia congenita. 
Anesthesiology 1998; 98: 1262-4.

-         Rodney GE, Callander CC, Harmer M. 
Spondyloepiphyseal dysplasia congenita: Caesarean section under epidural anaesthesia. 
Anaesthesia 1991 ; 46 : 648-50.

-         Myer CM, Cotton RT. 
Laryngotracheal stenosis in spondyloepiphyseal dysplasia. 
The Laryngoscope 1985 ; 95 : 3-5.

-         Mogera C, Muralidhar V. 
Spondyloepiphyseal dysplasia congenita syndrome : anesthetic implications. 
Anesth Analg 1999 ; 83 : 432-3.

-         Tofield CE, Mackinnon CA. 
Cleft palate repair in spondyloepiphyseal dysplasia congenita: minimizing the risk f cervical cord compression. 
Cleft Palate-Craniofacial J 2003; 40: 629-31. 

-        Pruszczynski B, Mackenzie WG, Rogers K, White KK.
Spinal cord injury after extremity surgery in children with thoracic kyphosis.
Clin Orthop Relat Res 2015; 473:3315-20

-        Mitra S, Jindal S, Saroa R, PaltaS.
General anaesthesia for parturients with spondyloepiphyseal dysplasia: risky but possible!
Indian J Anaesth 2016; 60: 435-7.

-        Nenna R, Midulla F, Masi L, Bacci GM, Frassanito A et al.
Airway stenting in a child with spondyloepiphyseal dysplasia congenita : 13-year survival.
Int J Pediatr Otorhinolaryngol 2017 ; 99 : 13-6.


Updated: February 2021