A successful anesthetic approach in a patient with Schwartz–Jampel syndrome

Abstract

Schwartz–Jampel syndrome (SJS) is a rare genetic condition that is characterized by several musculoskeletal abnormalities, such as myotonia, joint contractures, and facial dysmorphisms. Patients with this syndrome can present an anesthetic challenge, due to an increased risk of developing malignant hyperthermia (MH) and the possibility of encountering a difficult airway. Several precautions must be taken when general anesthesia is required, such as the avoidance of potential triggers for MH, continuous core temperature, and end-tidal CO2 monitoring, assuring that dantrolene is readily available. It is also fundamental to prepare for a possible difficult airway, guaranteeing that difficult airway devices are available. We describe the anesthetic management of a 14-year-old boy diagnosed with SJS who was scheduled for multiple dental extractions and was successfully anesthetized with our approach.

Total intravenous anesthesia in a child with Schwartz Jampel syndrome

“…[ 2 3 ] To avoid the risk of developing these complications, volatile anesthetics and depolarizing NMBs should not be used in general anesthesia. [ 4 5 ] There is a possibility of difficult intubation due to abnormal facial defects, including microstomia, micrognathia, and the rigidity of the jaw muscle. [ 2 3 4 ] The children with SJS may have difficulties due to lordosis, kyphoscoliosis, joint contractures, dysplastic hip, and contracted pelvis while applying regional anesthetic techniques.…”

“…[ 4 5 ] There is a possibility of difficult intubation due to abnormal facial defects, including microstomia, micrognathia, and the rigidity of the jaw muscle. [ 2 3 4 ] The children with SJS may have difficulties due to lordosis, kyphoscoliosis, joint contractures, dysplastic hip, and contracted pelvis while applying regional anesthetic techniques. [ 1 3 ] Whether general anesthesia is required, dantrolene should be available in the operating room before the operation, and continuous monitoring, including body temperature and end-tidal CO2, should be provided during the surgery.…”

“…[ 1 3 ] Whether general anesthesia is required, dantrolene should be available in the operating room before the operation, and continuous monitoring, including body temperature and end-tidal CO2, should be provided during the surgery. [ 2 3 4 ] In these children, to avoid these dangerous complications, TIVA is recommended,[ 3 5 ] and a case of successful and safe administration has been reported. [ 2 ]…”

Comment on “Schwartz–Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?”

“…and “Schwartz–Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?” by Ayeko. [ 1 2 ] The authors of the case report stated that patients with Schwartz–Jampel syndrome have “an increased risk of malignant hyperthermia.” Ayeko pointed out that “patients with Schwartz–Jampel syndrome are at an increased risk of malignant hyperthermia is not supported by evidence”. I agree with Ayeko, and I have already reported that “Schwartz–Jampel syndrome is not related to malignant hyperthermia” in 2017.…”

Schwartz–Jampel syndrome: Is risk of malignant hyperthermia the same as that of the general population?

“…I read with interest the case report, “A successful anesthetic approach in a patient with Schwartz–Jampel syndrome (SJS)” by de Oliveira Camacho et al . [ 1 ] However, I wish to point out that their conclusion that patients with SJS are at increased risk of malignant hyperthermia(MH) is not supported by the scientific evidence. Similar to the previous authors reporting anesthetic management of SJS cases, they based their conclusion on the case report by Seay and Zifer published in 1978.…”