(Progeria, Hutchinson-Gilford syndrome or disease)
Very rare: 1-4/8.106 births. Sporadic or autosomal dominant transmission of mutations of the LMNA gene on 1q21.2 (gene involved in other progeroid laminopathies and in the Emery-Dreifuss muscular dystrophy). Progerin is a lamin the mutation of which causes a defect of ADN repair and early aging.
Clinical presentation:
- look as an elderly person
- postnatal growth retardation,
- facial dysmorphism: bossing, prominent eyes, pinched nose with small tip (beaked nose), micrognathia, bad implementation of teeth
- small mouth opening, narrow larynx (high pitched voice), risk of temporomandibular ankylosis and of reduced mobility of the neck
- early atheromatosis: coronary heart disease, cerebrovascular accidents
- osteoporosis: pathologic fractures,
- alopecia; lack of subcutaneous fat; thin, dry and wrinkled skin; hyperpigmented spots.
Usually normal intelligence. Life expectancy: about 6-20 years (median: 13 years).
Experimental treatment: lonarfarnib, statins, prevention of osteoporosis
Anesthetic implications:
careful positioning. Fragile teeth. Coronary risk: preop echocardiography and stress test, 5 lead ECG and ST-segment monitoring. Risk of difficult mask ventilation/intubation. Small mouth opening: the insertion of an LMA can be difficult. Opt for an endotracheal tube diameter corresponding to the child height (or to its little finger size). Appearance of an aged person but psychological development of a child.
References :
- Nguyen NH, Mayhew JF.
Anaesthesia for a child with progeria.
Paediatr Anaesth 2001; 11:370-371.
- Liessmann CD.
Anaesthesia in a child with Hutchinson-Gilford progeria.
Pediatr Anesth 2001 ; 11 : 611-4.
- Herd RS, Sprung J, Weingarten TN.
Primary osteolysis syndromes: beware of difficult airway.
Pediatr Anesth 2015; 25: 727-37.
- Vreeswijk SJM, Claahsen HL, Borstlap WA, Hendriks MP.
Anaesthesia and orphan disease: Hutchinson-Gilford progeria syndrome, a case report and summary of previous cases.
Eur J Anaesthesiol 2016; 33: 869-72
- Nijs K, Van de Velde M, Hoogma D.
Anesthetic considerations in children with Hutchinson-Gilford progeria syndrome : a narrative review.
Pediatr Anesth 2020 ; 30 :537-43
Updated: June 2020