|Year : 2015 | Volume
| Issue : 3 | Page : 455-457
Anesthesia for herniotomy in Schwartz-Jampel syndrome
Bahaa El-din Ewees, Dalia M El Fawy MD
Department of Anesthesiology, Intensive Care and Pain Management, Faculty of Medicine, Ain Shams University, Cairo, Egypt
|Date of Submission||04-Jan-2015|
|Date of Acceptance||04-May-2015|
|Date of Web Publication||29-Jul-2015|
Dalia M El Fawy
Department of Anesthesiology, Intensive Care and Pain Management, Faculty of Medicine, Ain Shams University, Cairo
Source of Support: None, Conflict of Interest: None
Patients with neuromuscular disorders may develop specific anaesthetic complications; these include pulmonary insufficiency, cardiac arrhythmias, thermoregulatory instability and technical difficulties with tracheal intubation. We describe the anaesthetic management of a child with a rare autosomal recessive disorder, Schwartz-Jampel syndrome, characterised by various musculoskeletal disorders and a potential for thermoregulatory dysfunction.
Keywords: anesthesia, Schwartez-Jampel syndrome
|How to cite this article:|
Ewees BE, El Fawy DM. Anesthesia for herniotomy in Schwartz-Jampel syndrome. Ain-Shams J Anaesthesiol 2015;8:455-7
| Introduction|| |
Schwartz-Jampel syndrome (SJS) is a rare genatic disorder affecting muscloskeletal system disease characterized by micrognathia, microstomia, and abnormal facial features that cause suspected difficult intubation, contracted pelvis, suspected difficult caudal anesthesia, myotonia, and high susceptibility to malignant hyperthermia  .
There are two types. In type I, problems with motor development frequently become evident during the first year of life. Usually, the characteristic dysmorphic features lead to an early diagnosis, no later than the age of 3 years. SJS types IA and IB are derived from mutations of the same gene, the HSPG2 gene, which codes for perlecan, a heparin sulfate proteoglycan  .
The most commonly recognized and described form of SJS is type IA, which exhibits muscle stiffness, mild (and largely nonprogressive) muscle weakness, and a number of minor morphologic abnormalities. The cardinal features are joint contractures, bone dysplasia, and small stature. Infants with type II have severe respiratory difficulties and feeding problems. Hypotonia (rather than stiffness) is prominent. Frequent bouts of hyperthermia have been described (possibly related to mitochondrial dysfunction). Type IA is the classic type described by Schwartz and Jampel. It becomes apparent later during childhood and is less severe compared with type IB.
Type IB is apparent immediately at birth and is clinically more severe, although it is typically compatible with life and even long-term survival.
Schwartz-Jampel syndrome type II
SJS type II, like type IB, is apparent immediately at birth. The patients look similar to those with type IB. However, it has been known for many years that type II does not map to the same chromosome as types IA and IB. It is now known that type II relates to a mutation in a different gene, the gene for the leukemia inhibitory factor receptor (LIFR)  .
Neurophysiologic examination typically shows continuous electrical activity (similar to myotonic discharges). However, the electrical activity often lacks the waxing and waning quality of true electrical myotonia and might be better described as complex, repetitive discharges. At other times, the pattern resembles neuromyotonia (i.e. extremely rapid, repetitive discharges that wane from an initially high amplitude). In other cases, a combination of these and other electrical patterns are seen. Perhaps a unique Schwartz-Jampel pattern exists that has not yet been fully defined , .
| Case report|| |
- A 40-day-old male patient was presented to the operating room for unilateral irreducible inguinal hernia repair and had a feature suspicious of SJS syndrome (e.g. micrognathia, dystonia, and contracted pelvis).
- Negative general anesthesia.
- Family history : His brother had a previous history of SJS and had been exposed to general anesthesia at 3 years of age and had received total intravenous anesthesia with ketamine intravenously.
- The baby's general condition was good; he was vitally stable (blood pressure 90/60, pulse 120, regular, SpO 2 100% on room air) and his body weight was 3.5 kg.
- Chest auscultation was clear.
- Hb, 13.7 mg/dl; platelets, 250 000/mm 3 .
- White blood cells, 8000/mm 3 .
- International normalized ratio, 1.01; partial thromboplastin time, 35 s.
- Venous access: peripheral 24-G cannula in the left hand.
Induction of anesthesia
- Anesthesia was induced with intravenous ketamine (1 mg/kg).
- Oral intubation was achieved with a 3.5-G endotracheal tube without a muscle relaxant, and was confirmed by equal air entry and capnography. Caudal analgesia was carried out with an injection of bupivacaine (3.5 ml 0.25%).
- Anesthesia was maintained with ketamine titration at a total dose of 7.5 mg with assisted manual ventilation to decrease muscle rigidity.
- Core temperature was measured continuously using a rectal thermometer.
- Blood pressure ranged from 90/60 to 80/50, pulse ranged from 120 to 140 beats/min, and SpO 2 ranged between 2.99 and 100%.
- A total volume of 40 ml of lactated ringer's solution was administered over 1 hour.
- Blood loss was negligible.
- After surgery the patient was extubated, and after regaining full consciousness and full muscle power was transferred to the neonatal ICU for fear of malignant hyperthermia (blood pressure, 90/60; heart rate, 120; SpO 2 , 100%).
| Discussion|| |
The basic defect in SJS is unknown. Recently, a sodium channel defect resulting in inability to maintain normal ionic gradients has been shown, and this may be responsible for increased muscle irritability . Schwartz and Jampel have suggested that the entire clinical picture resulted from a delay, or a generalized arrest of muscle and tendon development during infancy  .
Two major complications may arise during anesthesia
First, difficulties in tracheal intubation could occur as a result of microstomia and jaw muscle rigidity, although problems have not, as yet, been reported. This may be more apparent during the later years when contractures have become established. Another major complication that may arise is the development of thermoregulatory dysfunction  .
Nevertheless, core temperature and end-tidal CO 2 should be carefully monitored for signs of increased metabolism.
Skeletal deformities may lead to limited chest wall expansion, causing reduced vital capacity and decreased chest wall compliance  . This may compromise lung function leading to hypoxemia. It can be concluded that depending upon the severity of the disorder, airway maintenance, respiratory involvement, and thermoregulatory problems are the main concerns to the anesthetist.
Temperature monitoring, capnography, and facilities to deal with hyperthermia should be available throughout the perioperative period by preparation of a new anesthetic circuit. The anesthetic machine should be washed off inhalational anesthetics by using 100% O 2 for 24 h and finally dantrolene should be ready. Finally, it is important to remember that these patients should be observed in a high dependency unit postoperatively for early detection of pulmonary insufficiency and thermoregulatory dysfunction.
As we mentioned, intravenous anesthesia is the safest, but propofol is not preferred for this age and so we used ketamine as it is not recorded to trigger malignant hyperthermia. However, it was recorded to cause chest wall rigidity and so cannot be used as the soul anesthetic agent at this age and should be combined with caudal analgesia.
The other plane is regional spinal anesthesia (bupivacaine 0.5-0.66 mg/kg) with ketamine sedation at a dose of 0.5-0.8 mg/kg, but because of lack of experience in this technique in neonate we chose the first plane  .
| Conclusion|| |
Regional anesthesia with good sedation is the best for this syndrome in this age either spinal or caudal as we used.
| Acknowledgements|| |
Conflicts of interest
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