Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 8  |  Issue : 3  |  Page : 455-457

Anesthesia for herniotomy in Schwartz-Jampel syndrome


Department of Anesthesiology, Intensive Care and Pain Management, Faculty of Medicine, Ain Shams University, Cairo, Egypt

Date of Submission04-Jan-2015
Date of Acceptance04-May-2015
Date of Web Publication29-Jul-2015

Correspondence Address:
Dalia M El Fawy
Department of Anesthesiology, Intensive Care and Pain Management, Faculty of Medicine, Ain Shams University, Cairo
Egypt
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1687-7934.161736

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  Abstract 

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

How to cite this URL:
Ewees BE, El Fawy DM. Anesthesia for herniotomy in Schwartz-Jampel syndrome. Ain-Shams J Anaesthesiol [serial online] 2015 [cited 2019 Jul 22];8:455-7. Available from: http://www.asja.eg.net/text.asp?2015/8/3/455/161736


  Introduction Top


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 [1] .

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 [2] .

Type IA

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

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) [2] .

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 [3],[4] .


  Case report Top


  1. 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).


Preoperative assessment

  1. Negative general anesthesia.
  2. 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.
  3. 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.
  4. Chest auscultation was clear.
Laboratory investigation

  1. Hb, 13.7 mg/dl; platelets, 250 000/mm 3 .
  2. White blood cells, 8000/mm 3 .
  3. International normalized ratio, 1.01; partial thromboplastin time, 35 s.
  4. Venous access: peripheral 24-G cannula in the left hand.


Induction of anesthesia

  1. Anesthesia was induced with intravenous ketamine (1 mg/kg).
  2. 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%).
  3. Anesthesia was maintained with ketamine titration at a total dose of 7.5 mg with assisted manual ventilation to decrease muscle rigidity.
Intraoperative assessment

  1. Core temperature was measured continuously using a rectal thermometer.
  2. 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%.
  3. A total volume of 40 ml of lactated ringer's solution was administered over 1 hour.
  4. Blood loss was negligible.
  5. 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 Top


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 [1]. 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 [5] .

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 [6] .

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 [1] . 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.

Anesthetic plane

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 [7] .


  Conclusion Top


Regional anesthesia with good sedation is the best for this syndrome in this age either spinal or caudal as we used.


  Acknowledgements Top


Conflicts of interest

None declared.

 
  References Top

1.
Lehmann-Horn F, Iaizzo PA, Franke C, Hatt H, Spaans F. Schwartz-Jampel syndrome: II. Na + channel defect causes myotonia. Muscle Nerve 1990; 13:528-535.  Back to cited text no. 1
    
2.
Begam MA, Alsafi W, Bekdache GN, Chedid F, Al-Gazali L, Mirghani HM. Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones. Ultrasound Obstet Gynecol 2011; 38:553-558.  Back to cited text no. 2
    
3.
Di Rocco M, Stella G, Bruno C, Doria Lamba L, Bado M, Superti-Furga A. Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia. Am J Med Genet A 2003; 118A:362-368.  Back to cited text no. 3
    
4.
Reither M, Urban M, Kozlowski KS, Pritsch M, Tegtmeyer FK. Stuve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate. Klin Padiatr 2006; 218:79-84.  Back to cited text no. 4
    
5.
Saadat M, Mokfi H, Vakil H, Ziai M. Schwartz syndrome: myotonia with blepharophimosis and limitation of joints. J Pediatr 1972; 81: 348-350.  Back to cited text no. 5
[PUBMED]    
6.
Ray S, Rubin AP. Case report: anaesthesia in a child with Schwartz-Jampel syndrome. Anaesthesia 1994; 49:600-602.  Back to cited text no. 6
    
7.
Kachko L, Simhi E, Tzeitlin E, Efrat R, Tarabikin E, Peled E, et al. Spinal anesthesia in neonates and infants - a single-center experience of 505 cases. Paediatr Anaesth 2007; 17:647-653.  Back to cited text no. 7
    




 

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  In this article
   Abstract
  Introduction
  Case report
  Discussion
  Conclusion
  Acknowledgements
   References

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