[MIM 218 040]

Rare. Malformative syndrome which is part of the RASopathies (see this term). De novo mutations in the HRAS oncogene (locus 11p15.5) of the RAS family. 

Association of:

-        developmental delay, mental retardation, 

-        significant difficulties of feeding during the first year of life

-        facial dysmorphism that evolves with age: macrocephaly, coarse facies, wide nose with anteverted nares, thick lips, macroglossia, epicanthus, low implanted ears

-        short hands with redundant skin and deep folds, 

-        a cardiac malformation (pulmonary valve stenosis: 45 %,  cardiomyopathy 45 %) and or supraventricular rhythm disorders (30 %) 

-        periorificial papillomas; sometimes laryngeal papillomas (local frictions due to intubation could be a precipitating factor)

-        diffuse hyperpigmentation of the skin and very curly hair

-        osteoporosis. 

-        scoliosis of late onset

-         sometimes endocrine disorders: growth hormone deficiency, pituitary, thyroid or cortisone synthesis problems

There is a risk of Arnold-Chiari syndrome (with syringomyelia and or hydrocephalus) following progressive enlargement of the cerebellum.

There is a significant risk of tumor development: neuroblastoma (before the age of 10 years), rhabdomyosarcoma, bladder cancer (from adolescence onwards).

Anesthetic implications: 

echocardiography and preoperative ECG;  obstructive apnea, disorders of swallowing; risk of difficult intubation in case of laryngotracheal papillomas - if an intubation is necessary, it must be gentle and atraumatic;  a recent MRI of the brain can be helpful to check the absence of Arnold-Chiari syndrome; endocrine status: tendency to hypoglycemias and hypothermia. Prevention of endocarditis. The diagnosis of Costello syndrome should be evoked in case of polyhydramnios and fetal supraventricular rhythm disorders.

References : 

-         Katcher K, Bothwell M, Tobias JD. 
Anaesthetic implications of Costello syndrome. 
Pediatr Anesth 2003; 13: 257-62.

-        Shukry M, Boucher J, Deepu M, de Armendi A. 
Anesthetic considerations in the child with Costello syndrome: risks of cardiac arrest upon induction of anesthesia. 
Pediatr Anesth 2008; 18: 567-8.

-         Tsutsui M, Sugahara S, Motosuneya T, Wada H et al. 
Anesthetic management of a child with Costello syndrome complicated by congenital absence of the portal vein : a case report. 
Pediatr Anesth 2009; 19: 714-5.

-        Verloes A, Cave H. 
Syndrome de Noonan et RASopathies apparentées, 
In Syndromes dysmorphiques, édité par D Lacombe et N Philip, Série Progrès en Pédiatrie, Doin 2013, p 13-26.

-        Williams C. 
Anesthetic management of Costello syndrome : a case report. 
AANA Journal 2014; 82: 108-13 

-        Ugata K, Imamachi N, Hashimoto A, Saito Y.
Anesthetic management in an adult patient with Costello syndrome: a case report.
A&A Practice 2019; 41-3

Updated: July 2019