|LETTER TO EDITOR
|Year : 2015 | Volume
| Issue : 5 | Page : 322-323
Anaesthetic management of a patient with Jarcho-Levin syndrome
Neena Jain, Pooja Mathur, Priya Verma, Arvind Khare
Department of Anaesthesiology, Jawaharlal Nehru Medical College, Ajmer, Rajasthan, India
|Date of Web Publication||12-May-2015|
Dr. Pooja Mathur
Assistant Professor, Department of Anaesthesiology, Jawaharlal Nehru Medical College, Ajmer - 305 001, Rajasthan
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jain N, Mathur P, Verma P, Khare A. Anaesthetic management of a patient with Jarcho-Levin syndrome. Indian J Anaesth 2015;59:322-3
[This article is devoted to the memory of Dr. Priya Verma.]
Jarcho-Levin syndrome (JLS) is a rare, congenital, inherited costovertebral dysplasia with an estimated global incidence of 1/40,000 births. , Though exact incidence in Indian context is not known, there are few case reports describing it in Indian population.  We report a case of JLS, associated anaesthetic challenges and their management. A 12-month-old male child with JLS presented with left inguinal hernia and was scheduled for herniotomy. The history was significant, with presence of abnormal position of lower limbs, protuberant abdomen at birth, recurrent chest infections and cyanosis on crying. The child had short stature with normal limb length, kyphoscoliosis and shield-like chest. His height was 60 cm, arm span 66 cm, upper segment to lower segment ratio 1.2, weight 6.8 kg, length/age below 3 standard deviation (SD) and weight/height within 1 SD. On examination, there was no upper chest movement and slight (1-1.2 cm) lower chest movement with respiration. Mouth opening was 2 cm with bulky tongue, short neck, and restricted neck mobility. Radiography showed fused cervical vertebrae [Figure 1], crowded ribs (crab-like or fan-like) due to posterior fusion, without any intrinsic rib abnormality [Figure 2]a and hemivertebrae (pebble beach) in thoracolumbar spine [Figure 2]b. Abdominopelvic ultrasonography and two-dimensional echocardiogram were normal. Other investigations were within normal limits.
|Figure 2: (a) Chest X-ray PA view showing crowding of ribs characteristic 'crab-like' appearance of ribs. (b) X-ray thoracic and lumbar spine showing 'pebble beach' appearance due to hemi vertebrae|
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Patient was posted for herniotomy; in view of vertebral anomalies, neuraxial blockade was ruled out, and general anaesthesia was planned. Since difficult intubation was anticipated, difficult airway cart was kept ready. Pre-operative oxygen saturation (SpO 2 ) on room air was 90%, pulse rate 130/min and blood pressure 96/70 mm Hg. Intravenous tramadol 12 mg was given as pre-medication through a 24-gauge cannula already in situ. Patient was pre-oxygenated, and SpO 2 of 100% was achieved, followed by inhalational induction with halothane and O 2 . Laryngoscopy was attempted with spontaneous respiration and Cormack and Lehane grade 3 was noted. Patient could be intubated with a 4 mm uncuffed endotracheal tube using stylet; bilateral air entry and tube placement (by capnography) were confirmed. Patient was kept on volume controlled ventilation, and anaesthesia was maintained with O 2 and isoflurane. Injection atracurium was used for muscle relaxation. Intraoperative vitals remained stable. After completion of surgery, patient was reversed with injection neostigmine and glycopyrrolate and extubated after return of airway reflexes and adequate muscle power. Post-operative SpO 2 was 100% on oxygen by ventimask. Rest of the post-operative period was uneventful and patient was discharged on 3 rd post-operative day. On the follow-up after 2 months patient was healthy. Jarcho-Levin syndrome is skeletal dysplasia with a short trunk. It is of two subtypes, spondylothoracic dysostosis (STD) and spondylocostal dysostosis (SCD). Associated anomalies are hernias, neural tube defects, urogenital and anal anomalies.  Patients with STD have vertebral anomalies with a 'fan-like' or 'crab-like' rib configuration, a higher incidence of neural tube defects and a higher mortality rate and inherited in autosomal recessive manner. SCD patients have vertebral anomalies with marked intrinsic rib abnormalities such as absent ribs, abnormal orientation, irregularity of shape and size, bifurcation, broadening, fusion of ribs, etc. They are often short statured, have higher survival rate, less likely to have associated neural tube defects and inherited in either autosomal recessive or autosomal dominant manner.  There is no definitive treatment of this syndrome and management is directed towards prevention of respiratory infection and symptomatic support. Our patient had features of STD. This syndrome may pose multiple challenges to anaesthesiologist such as difficulty in airway management, respiratory compromise and problems posed by associated anomalies. As these patients have recurrent respiratory infections, perioperative assessment and management of these complications is of prime importance.  Cyanosis while crying in the absence of cyanotic heart disease may be seen due to collapse of the trachea owing to the absence of tracheal cartilaginous rings.  Fusion of cervical vertebra and kyphoscoliosis pose a special challenge during airway management and contribute to intubation difficulty. Supraglottic airway devices can be of great help specially in centres without facility for fiberoptic intubation.  As we were able to intubate the patient in first go, we did not use supraglottic device. Inhalational induction is preferred as it allows intubation in spontaneously breathing patients. Pre-operative sedatives and opioid analgesics should not be used to avoid respiratory depression. We avoided the use of nitrous oxide as these patients may have associated pulmonary hypertension. 
Post-operative mechanical ventilation may be needed because of the presence of kyphoscoliosis and decreased chest wall compliance. The perioperative morbidity and mortality of these patients is mainly related to pulmonary consequences of thoracic skeletal dysplasia and associated anomalies. Adequate care during pre-operative period, anaesthetic management and post-operative period are imperative in successful outcomes in patients with Jarcho-Levin syndrome.
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[Figure 1], [Figure 2]