Costello, syndrome
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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