[MIM 133 540, 214 150, 216 400, 216 411, 278 780, 610 756, 610 758, 616 570]

(Progeroid dwarfism, Neill-Dingwall syndrome)

Annual incidence in Europa: 1/200.000. Autosomal recessive transmission of a mutation of gene ERCC6  (10q11) or gene ERCC8 (5q12.1.). Premature senescence syndrome due to an anomaly in DNA repair processes (high sensitivity to UV radiations).

Clinical presentation is variable over time:

-        progressive and disproportionate dwarfism

-        cachexia, with subcutaneous lipoatrophy

-        mental retardation, cerebellar ataxia

-        early atheromatosis

-        retinitis pigmentosa, spasms,

-        deafness

-        skin photosensitivity,

-        facial  (microcephaly, large ears, thin nose, enophthalmos, decayed teeth) and vertebral anomalies.

-        progressive demyelinating peripheral neuropathy (early onset of symptomatology - reduced nerve conduction velocities)

Three forms have been described:

- type I: onset after 2 years (death in the 2nd or 3rd decade)

- type II (severe): early prenatal or neonatal onset; death around the age of 6-7 years

- type III (less severe).

Extreme forms:

-        Peina-Shoker type 2 syndrome (see this term) or COFS (for Cerebro-Oculo-Facio-Skeletal syndrome) with arthrogryposis

-        Cockayne syndrome associated with xeroderma pigmentosum (see this term) where the ocular and cutaneous hypersensitivity to UV's is major

Several cases of severe hepatotoxicity after the administration of metronidazole have been described: until further notice, this syndrome is an absolute contraindication to the administration of metronidazole.

Anesthetic implications: 

difficult intubation (very large teeth in a small mouth), risk of subglottic stenosis: select the endotracheal tube according to patient'sweight rather than age. Prepare for a videolaryngoscopy. ECG, Holter and cardiac ultrasound to detect sequellae of early atheromatosis. The validity of monitoring of depth of anesthesia with EEG monitors has been questioned.

References : 

-         Cook S.
Cockayne’s syndrome: another cause of difficult intubation.
Anaesthesia 1982; 37: 1104-7

-        Wooldridge WJ, Dearlove OR, Khan AA. 
Anaesthesia for Cockayne syndrome. Three case reports. 
Anaesthesia 1996; 51:478-81.

-        Sasaki R, Hirota K, Masuda A.
Nifedipine-induced transient cerebral ischemia in a child with Cockayne syndrome.
Anaesthesia 1197; 52: 1236

-        Wooldridge WJ, Dearlove OR.
Anaesthesia for Cockayne’s syndrome: contemporary solutions to an old problem.
Pediatr Anesth 1994; 4: 191-5

-        Yuen MK, Rodrigo C, Law Min JC, Tong CKA.
Myocardial ischemia and delayed recovery after anesthesia in a patient with Cockayne syndrome: A case report.
J Oral Maxillofacial Surg 2001; 59: 1488-91

-        Raghavendran S, Brown KA, Buu N.
Perioperative management of patients with Cockayne syndrome:recognition of accelerated aging with growth arrest.
Pediatr Anesth 2008; 18: 360-1.

-         Wilson BT, Strong A, O’Kelly S, Munkley J. 
Metronidazole toxicity in Cockayne syndrome: a case series. 
Pediatrics 2015; 136: e706-8

-        Le syndrome de Cockayne.
Orphanet encyclopedia : www.orpha.net/data/patho/Pub/fr/Cockayne-FRfrPub638.pdf (in French)

-        Tsukamoto M, Hitosugi T, Yokoyama T.
Discrepancy between eletroencephalography and hemodynamics in a patient with Cockayne syndrome.
J Clin Anesth 2016; 35: 424-6

-        Blin-Rochemaure N, Allani-Essid N, Carlier R, Laugel V, Quijano-Roy S.
Place de la neuropathie dans le diagnostic précoce du syndrome de Cockayne : à propos de deux cas dans une fratrie.
Arch Pédiatr 2017 ; 24 : 353-9.

-        AldridgeD, Wisely N.
Airway management in a patient with Cockayne syndrome.
Anaesthesia Reports 2024 : 12 : e12292

Updated: July 2024