[MIM 166 200, 166 210, 166 220, 166 230, 259 420, 259 440, 610 682, 610 915, 610 967, 610 968, 613 848, 613 849 , 613 982, 614 856, 615 066]

( Lobstein disease, brittle bone disease, blue sclerae disease, Porak and Durante disease)

Prevalence: 1/30,000. Autosomal dominant forms: mutations of COL1A1 gene (on 17q21.33) or COL1A2 gene (on 7q21.3) coding for the α1 and α2 chains of collagen. Autosomal recessive forms: mutations of the CRTAP (on 3p22), LEPRE1 (on 1p34.1) or PPIB (on 15q21 - q22) gene coding for collagen type I.

Different main types:

-         type 1 (autosomal dominant, 60 % of cases): moderate form with blue sclerae or dentinogenesis imperfecta, sometimes late hearing loss. no growth delay; 

-         type 2 (autosomal dominant, 10 % of cases): lethal in the neonatal period.

-         type 3 (autosomal recessive or dominant, 20 % of the cases): severe form with blue sclerae, dentinogenesis imperfecta and a triangular facies  (" progressive distorting osteogenesis");

-         type 4 (autosomal dominant, < 10 % of cases): intermediate form with normal sclerae and either imperfect or normal dentinogenesis.

Other types have been added:

-         type 5 (autosomal dominant): form with hypertrophic bone calluses and calcification of the interosseous membrane and a dense metaphyseal band under the growth plate. 

-         type 6 (autosomal recessive transmission): form with normal sclerae and teeth, characterized by a moderate elevation of alkaline phosphatase blood levels, an increase in bone thickness and irregular bone lamination;

-         type 7 (autosomal recessive linked to chromosome 3 p, outside the locus of collagen type I); form described in an Indian community with a high rate of inbreeding in Quebec, characterized by  rhizomely and coxa vara, associated with slightly bluish sclerae.

-        type 8: (autosomal recessive) due to a mutation of the LEPRE1 gene  leading to a deficiency in prolyl 3-hydroxylase. This protein interacts with collagen type 1. This form is severe and generally lethal but a few cases have been reported where the osseous fragility is extreme (e.g.: fracture caused by non-invasive BP monitoring)

-        Bruck syndrome (see this term)

Osteogenesic imperfecta classificiation

         Synthesis, structure or collagen transformation deficit

          Bone mineralization deficit

         Collagen modification disorders

        Collagen plicature and binding disorders

         Osteoblastic development deficit with collagen deficiency

         Other

In 50 % of cases, there is a high level of blood thyroxine, which explains that these patients often have a higher than normal basal body temperature, and perhaps, some cases of intraoperative hyperthermia.

In case of type 1, 3 or 5, IV pamidroate therapy increases bone density and reduces the risk of fracture.

Anesthetic implications: 

• airway: in case of type III, triangular facies with relative macrocephaly and micrognathia; sometimes atlo-axoid instability and basilar impressions with risk of compression of the brain stem; a videolaryngoscope or fibroscope must be available for intubation
• teeth: fragile dentition
• cardiopulmonary: restrictive syndrome, risk of chronic cor pulmonale with pulmonary hypertension; in case of type I, risk of dilation of the aorta, aortic insufficiency and prolapse of the mitral valve
• bone: risk of fracture, avoid using a tight tourniquet for peripheral venous access
• hematology: the hemostasis is usually normal but presence of platelet dysfunction. Risk of severe bleeding
• temperature: there is no risk of malignant hyperthermia: intraoperative hyperthermia and metabolic acidosis formerly attributed to an increased metabolism are not found in recent patient series. However, even in the presence of precautions to avoid hyperthermia, the risk of raising temperature is higher if the child is younger, if anesthesia is based on maintenance with sevoflurane and if the surgery is long-lasting.

Cases of regional anesthesia have been described: caudal, spinal, lumbar epidural (with or without prior ultrasound) including some failures. A case of reversible lactic acidosis has been described in a child suffering from osteogenesis imperfecta type 3 who benefited from IV total propofol anesthesia but with high dosage and following a 17-hour fasting period: prolonged fasting was probably the triggering factor.

In case of type 3, external cardiac massage is difficult to perform and probably ineffective in case of circulatory arrest.

References : 

• Hall RMO, Henning RD, Brown TCK, Cole WG. 
  Anaesthesia for children with osteogeneis imperfecta - review covering 30 years and 266 anaesthetics. 
  Paediatr Anaesth 1992; 2:115-21.
• Benca J, Hogan K. 
  Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options.
  Anesth Analg 2009; 109: 1049-53.

• Bojanic K, Kivela JE, Gurrieri C, Deutsch E, Flick R, Sprung J, Weingarten TN. 
  Perioperative course and intraoperative temeratures in patients with osteogenesis imperfecta. 
  Eur J anaesthesiol 2011; 28: 370-5.
• Heinrich S, Niedermirtl F, Schwemmer U, Muenster T, Tzabazis A. 
  Anaesthesia and orphan disease: traumatic cardiac arrest in a patient with osteogenesis imperfecta. 
  Eur J Anaesthesiol 2013; 30: 509-11.
• Yeo ST, Paech MJ.
  Regional anesthesia for multiple caesarian sections in a parturient with osteogenesis imperfecta.
  Int J Obstetr Anesth 1999; 8: 284-7
• Kill C, Leonhardt A, Wulf H .
  Lactic acidosis after short-term infusion of propofol for anaesthesia in a child with osteogenesis imperfecta.
  Pediatr Anesth 2003; 13: 823-6
• Garg M, Jain M, Gupta A.
  Anaesthetic management of a case of osteogenesis imperfect with urinary bladder stone: a case report.
  Indian J Anaesth 2009; 53: 68-70.
• Gupta A, Kamal G, Gupta N, Aggarwal A.
  Combined spinal-peridural anesthesia with dexmedetomidine-based sedation for multiple corrective osteotomies in a child with osteogenesis imperfect type III: a case report.
  A&A Case Reports 2017; 9: 60-3.
• Singh J, Sharma P, Mitra S.
  A novel approach to the anaesthetic management of a case of osteogenesis imperfecta.
  Indian J Anaesth 2017; 61: 517-9.
• Chin JWE, Stuart GM.
  Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta.
  Pediatr Anesth 2018; 28:817-8
• Beethe AR, Bohannon NA, Ogun OA, Wallace MJ et al.
  Neuraxial and regional anesthesia in surgical patients with osteogenesis imperfecta: a narrative review of literature.
  Reg Anesth Pain Med 2020; 45:993-9 
• Liang X, Chen P, Chen C, Che W et al.
  Comprehensive risk assessment and anesthetic management for children with osteogenesis imperfecta: a retrospective review of 252 orthopedic procedures over 5 years.
  Pediatr Anesth 2022; 32: 851-61 Liang X, Chen P, Chen C, Che W et al. Comprehensive risk assessment and anesthetic management for children with osteogenesis imperfecta: a retrospective review of 252 orthopedic procedures over 5 years. Pediatr Anesth 2022; 32: 851-61

Updated: June 2022