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Management of anesthesia in a patient with osteogenesis imperfecta and multiple fractures: a case report and review of the literature.

ABSTRACT: Patients with osteogenesis imperfecta (OI) usually also show osteoporosis and bone fragility. Because these defects may also be combined with an airway that is difficult to manage, abnormal platelet function, and other problems, the perioperative management of anesthesia represents a substantial challenge. Therefore, it is important to be able to predict the risks during the perioperative period and to formulate and implement specific high-quality anesthesia management plans for such patients when they experience trauma. We report the case of a 59-year-old female patient with OI who experienced trauma resulting in fractures of the left proximal humerus and right hip. She required open reduction and internal fixation of her humerus and total hip arthroplasty. However, she also had obstructive sleep apnea syndrome, and an airway assessment indicated that her airway would be difficult to maintain. General anesthesia combined with a nerve block was administered. An ultrasound-guided bilateral superior laryngeal nerve block and cricothyroid membrane puncture were used to facilitate endotracheal intubation. An ultrasound-guided "hourglass-pattern" fascia iliaca block was performed for perioperative analgesia. The use of a regional block and preparation for the difficult airway access represented important and successful aspects of the management of anesthesia in this patient.

SUBMITTER: Wang H

PROVIDER: S-EPMC8258760 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:PurposeMetaphyseal corner fractures and posterior rib fractures are thought to only occur in settings of inflicted injury. We describe a case of siblings who presented with metaphyseal corner fractures and multiple posterior rib fractures who were later found to carry FKBP10 mutations, a rare cause of Osteogenesis Imperfecta (OI) known as Bruck syndrome. This clinical presentation led to a literature review examining fracture types in OI and inflicted injury.CasesA 15-month-old male presented with multiple healing fractures of varying ages including posterior rib and metaphyseal corner fractures with no history of significant trauma. He had joint laxity, short stature and Wormian bones. His diagnosis of Bruck Syndrome led to investigations in his sibling at birth, which demonstrated the same fracture pattern including multiple posterior rib and metaphyseal corner fractures. They both had pathogenic compound heterozygous FKBP10 variants.Literature review and resultsWe performed a literature review evaluating the fracture pattern in cases investigated for inflicted injury and found to have OI. Fourteen articles reported 78 children with OI initially diagnosed as inflicted injury. Of these children, 71 (91%) were diagnosed with milder forms of OI (Sillence type I and IV). Sixty-four children (81%) had clinical signs of OI including blue sclera, dentinogenesis imperfecta, short stature, joint laxity and limb bowing. Fifteen (19%) children had fractures of high specificity for inflicted injury including metaphyseal corner fractures and posterior rib fractures and 58 (74%) had fractures of moderate specificity for inflicted injury such as bilateral fractures and fractures of different ages.ConclusionMetaphyseal corner fractures and posterior rib fractures are highly associated with inflicted injury, but they have been reported in children with OI. Bruck syndrome, a rare and severe form of OI can present with metaphyseal and posterior rib fractures, including at birth. When features of OI are present in children with metaphyseal corner fractures and/or posterior rib fractures are present, genetic testing may be warranted.

Project description:BACKGROUND:Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and proliferation of osteoblasts, bone mineralization, and cell signaling. Up to now, 17 types of OI have been reported in which types I to IV are the most frequent cases with autosomal dominant pattern of inheritance. CASE PRESENTATION:Here we report an 8- year- old boy with OI who has had multiple fractures since birth and now he is wheelchair-dependent. To identify genetic cause of OI in our patient, whole exome sequencing (WES) was carried out and it revealed a novel deleterious homozygote splice acceptor site mutation (c.1257-2A?>?G, IVS7-2A?>?G) in FKBP10 gene in the patient. Then, the identified mutation was confirmed using Sanger sequencing in the proband as homozygous and in his parents as heterozygous, indicating its autosomal recessive pattern of inheritance. In addition, we performed RT-PCR on RNA transcripts originated from skin fibroblast of the proband to analyze the functional effect of the mutation on splicing pattern of FKBP10 gene and it showed skipping of the exon 8 of this gene. Moreover, Real-Time PCR was carried out to quantify the expression level of FKBP10 in the proband and his family members in which it revealed nearly the full decrease in the level of FKBP10 expression in the proband and around 75% decrease in its level in the carriers of the mutation, strongly suggesting the pathogenicity of the mutation. CONCLUSIONS:Our study identified, for the first time, a private pathogenic splice site mutation in FKBP10 gene and further prove the involvement of this gene in the rare cases of autosomal recessive OI type XI with distinguished clinical manifestations.

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Management of anesthesia in a patient with osteogenesis imperfecta and multiple fractures: a case report and review of the literature.

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