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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 5  |  Issue : 2  |  Page : 79-82

Spondylocostal dysostosis with severe ARDS and review of literature


1 Assistant Professor-Pediatrics and Intensive Care, Colaba, Mumbai, India
2 Junior Resident-Pediatrics, INHS Asvini, Colaba, Mumbai, India
3 Associate Professor-Pediatrics and Pediatric Oncology, INHS Asvini, Colaba, Mumbai, India
4 Associate Professor-Pediatrics, INHS Asvini, Colaba, Mumbai, India

Date of Submission27-Mar-2018
Date of Acceptance15-Apr-2018
Date of Web Publication30-Apr-2018

Correspondence Address:
Bal Mukund
Assisstant professor-Pediatrics and Intensive Care, INHS Asvini, Colaba, Mumbai-400005
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.21304/2018.0502.00380

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  Abstract 


Keywords: Spinocostal Dysostosis, Spondylocostal Dysostosis, Scoliosis, ARDS, Vertically Expandable Prosthetic Titanium Ribs (VEPTR)


How to cite this article:
Mukund B, Prasath H, Yadav AK, Bhandari A. Spondylocostal dysostosis with severe ARDS and review of literature. J Pediatr Crit Care 2018;5:79-82

How to cite this URL:
Mukund B, Prasath H, Yadav AK, Bhandari A. Spondylocostal dysostosis with severe ARDS and review of literature. J Pediatr Crit Care [serial online] 2018 [cited 2020 Mar 29];5:79-82. Available from: http://www.jpcc.org.in/text.asp?2018/5/2/79/281127




  Case History: Top


A 2 year old female toddler was brought to emergency department with history of cough, fever and faster breathing of 3 days and poor breathing effort of 1 hour duration. Child was on regular follow-up with home oxygen therapy by nasal prongs for the thoracic and spinal malformation with Pulmonary Hypertension (PAH). Child was born full term to a non consanguineous marriage, in rural hospital with thoracic meningo-myelocele with chest wall deformity and didn’t require resuscitation at birth. At present admission, the child was in respiratory failure with heart rate of 176/min, sPO2 of 90% and respiratory rate of 84/min. Child was intubated with 4.5 size uncuffed tube due to respiratory failure with marked work of breathing. Parents denied any history of similar malformation in the family. On further examination child was in hypotensive shock with blood pressure of 60/22 mmHg and bilateral crepitations on chest auscultation. She had severe pallor, thoracic scoliosis with thoracic menigocele with absent lower ribs on right side [Figure 1], [Figure 2], [Figure 3]. There was abdominal hernia on right side with protrusion of abdominal viscera from the wall. Child was managed with two fluid boluses, appropriate intravenous antibiotics, adrenaline and milirinone infusion through central venous lines. First arterial blood gas at PICU showed OI (oxygenation index of 16.5) and PRISM(Pediatric Risk of Mortality) III score was 17 at 12 hrs. Her weight was 7.1 kg and length was 75.5 cm, both below -3 Z score. Child was managed with low tidal volume ventilation , her maximum plateau pressure was 26. Her investigation revealed Hb 8.1gm/dl, TLC 18400 with polymorphs of 55%, platelet count 225000/μl creatinine 0.4 mg, SGOT 67 and SGPT 34. Her blood , urine and ET aspirate cultures were sterile. Chest X-ray initially showed bilaterally homogenous opacities consistent with ARDS with volume loss of right side of lung with rib and vertebral anomalies [Figure 2]. There was severe scoliosis of thoracic segment toward left with cobb’s angle of 41. There were aplastic ribs from 6th to 12th ribs on right side with spina bifida from D10 to L1 segment with poorly formed pedicles[Figure 2], [Figure 4]. Echocardiography revealed good contractility with mild PAH- 40mmHg.Ultrasonography ofthe abdomen was normal. She was given one cross matched packed red cell transfusion targeting 10 gm/dl of hemoglobin during resuscitation phase. Child gradually showed signs of improvement hence inotropes infusion were tapered and stopped after 72 hours. Subsequent chest x-ray showed clearing of opacities [Figure 3]. Child was weaned off mechanical ventilation from day 9 of admission and was extubated to non-invasive (NIV) mode on day 10. Child was put back to nasal prong oxygen from day 13 and discharged on day 15 of admission. At the time of discharge echocardiography revealed PAH of 50 mmHg. Child was referred to neurosurgery department for further corrective surgery and Spinal surgery team for correction of scoliosis. A final diagnosis of Spondylocostal Dysostosis with Secondary Pulmonary Hypertension with Severe ARDS was made. Child was discharged on iron and multivitamin supplements with nutritional advice from Dietician Since child was already vaccinated for pneumococcal vaccine, was advised influenza vaccination. The blood send for genetic mutation analysis for Spondylocostal Dysostosis revealed DLL3 mutation.
Figure 1. Thoracic Meningomyelocele

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Figure 2. Chest Xray consistent with bilateral opacity and ARDS

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Figure 3. Chest wall deformity

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Figure 4. Xray chest –clearing of opacity

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  Discussion: Top


Congenital vertebral segment anomalies presents with wide variety of well characterized disorders[1] but many times with poorly understood phenotypes.[2] Any associated anomaly of thorax with spine possesses a unique clinical and surgical challenge. Jarcho, a pathologist and Levin, a neurologist in 1938 described two children from Puerto Rico with short neck, abnormal vertebral segmentation and irregularly aligned ribs with normal skull and long bones. Since then Jarcho Levin Syndrome has been used for any form of costovertebral malformation.[3] Spondylocostal Dysostosis(SCD) is panethnic and most commonly inherited as autosomal recessively by mutation in DLL3 (most common),MESP2,LFNG or HES7 genes but rarely by autosomal dominance due to mutation in TBX6 gene.[1] In 1966,Lavy and colleagues reported series of infants from Puerto Rico who succumbed to severe respiratory insufficiency in infancy. In 1969, Moseley described identical patients from Mt Sinai Hospital to describe patients having short neck, small thoracic volume, symmetric posterior fusion of ribs resulting in fan-like appearance and fusion of occiput of skull with C1. Since then this syndrome of Spondylothoracic Dysostosis(STD) is called Lavy Moseley syndrome.[3] The severity of vertebral anomaly and clinical outcome is worse in STD than SCD.

Male patients with SCD are at increased risk for inguinal hernia. Six subtypes of SCD have been described based on genes involved, SCD1 (DLL3 associated) is most common and SCD2 (MESP2) is second commonest.Type3 is LFNG associated, Type-4 is HES7, type 5 is TBX6 associated and type 6 is RIPPLY2 associated which has more cervical scoliosis have been described in literature.[4]

Radiographically, patients with SCD have asymmetry of rib fusions with vertebral anomaly such as hemi- vertebrae or fused vertebra. These patients also have congenital scoliosis leading to chronic respiratory insufficiency but to a lesser degree than in STD.[5] Both these disorders are predominantly inherited as autosomal recessive, SCD appears due to mutation in genes associated with Notch signaling pathway. Respiratory infection and chronic respiratory insufficiency posses major clinical challenges in these patients. Aggressive treatment of pneumonia and timely pulmonary toilet are cornerstone for treatment. Recently Vertically Expandable Prosthetic Titanium Ribs (VEPTR) have been used in these patients .In a large study involving 29 similar patients, VEPTR were used to improve respiratory function, thoracic width, height and correction of scoliosis, resulted in correction of cobb’s angle upto 41% in SCD and 26% in STD patients.[6]

Spinothoracic Dysostosis have markedly shortened thorax and only 25% of these patients survive till adulthood. The cervical spine is usually abnormal with fusion full cervical spine, with occiput fused to C1.[3] In the study done by Cornier AS in 27 patients of STD, they found vertebral segmentation and formation defects along with decrease in number of vertebral bodies. They described an increase in lateral length and decrease in antero-posterior diameter resulting in sickle shape. They demonstrated fusion of multiple ribs at costo-vertebral angle resulting in Crab like configuration of thorax. They documented death in 8 infants within 6 months of life due to respiratory insufficiency secondary to pneumonia and pulmonary restriction and documented 56 % survival at 6 months. Remaining patients were in 4 months to 47 years age group.[7] Important differences between SCD and STD are depicted below[Table 1].
Table 1: Clinical presentation and outcome differences between SCD and STD

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Scoliosis can affect respiratory physiology in many ways. A cobb’s angle more than 90 degree predisposes to severe cardio-respiratory failure however moderate lung anomalies are evident from angle greater than 50 degrees. Restricitve type lung abnormalities i.e. decrease in total lung capacity (TLC) on pulmonary function test (PFT) are also evident. Duration of scoliosis is directly related to overall disability. Due to natural history of curve progression, cardiovascular compromise, backache and neurologic compromise tend to increase. These children may have hemoglobin level more than 2 SD for their age and gender.[8]

These children are predisposed for respiratory infections. The pneumonia may turn fatal in these children. Recently The Pediatric Acute Lung Injury Consensus Conference group (PALICI group) proposed the definition of severe ARDS with OI >16 in an acute onset respiratory failure within 7 days of known insult, in absence of cardiac dysfunction or fluid overload. The index patient had clinical evidence of pneumonia with onset of 3 days duration and first arterial blood gas revealed OI of 16.5 hence was diagnosed as severe ARDS. Appropriate management includes appropriate antibiotics , low tidal volume ventilation, optimization of the PEEP and other supportive treatments.[9]

The children with SCD and STD suffer from nocturnal hypopnea and/ or true apnea with desaturation during REM sleep. Low lung volumes due to thoracic cage deformities predispose these children to desaturation and hypopnea. There is no consensus as when polysomnogarphy (PSGs) should be done in these patients. Prophylaxis of chest infections with vaccination and physiotherapy, early use of antibiotics are important steps to prevent secondary complications.[7]

Children with Spondylocostal Dysostosis are good candidates for expansion thoracoplasty by Vertically Expandable Prosthetic Titanium Rib (VEPTR). Previous reports of literature suggest that these devices increase thorax and lung volume. In a another multicentric study from 7 different centers in 2009 found no change in lung volumes but a significant decrease in lung volume post surgery despite clinical and radiolographically proven expansion of thorax.[7] In a recent study done, VEPTR resulted in increase in lung volume and increase in FVC by approximately 11% per year . The results were better if surgery was planned before 6 years of age.[10] Even in this study, a decrease in respiratory system compliance to 56% of initial value was observed, in spite of successful thoracoplasty and growth of lung hence indicating increasing stiffness of thorax as they grow older. Genetic counseling is important, to provide families with information about illness, inheritance and treatment options to help them informed medical decisions. Prenatal diagnosis in high risk pregnancy is possible by mutation analysis if same is known in proband by amniocentasis or chorionic villus sampling which is done at 10-12 weeks.[4]

Source of funding: Nil

Conflict of Interest: Nil



 
  References Top

1.
Berdon WE, Lampl BS, Cornier AS, Ramirez N, Turnpenny PD, Vitale MG, et al. Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). Pediatr Radiol 2011;41(3):384-8.  Back to cited text no. 1
    
2.
Turnpenny PD, Alman B, Cornier AS, Giampietro PF, Offiah A, Tassy O, et al. Abnormal vertebral segmentation and the notch signaling pathway in man. Dev Dyn 2007;236(6):1456- 74.  Back to cited text no. 2
    
3.
Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, et al. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet 2008;82(6):1334-41.  Back to cited text no. 3
    
4.
Turnpenny PD, Sloman M, Dunwoodie S. Spondylocostal Dysostosis, Autosomal Recessive. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews (R). Seattle (WA)1993.  Back to cited text no. 4
    
5.
Campbell RM, Jr. Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976). 2009;34(17):1815-27.  Back to cited text no. 5
    
6.
Karlin JG, Roth MK, Patil V, Cordell D, Trevino H, Simmons J, et al. Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs). J Bone Joint Surg Am 2014;96(21):e181.  Back to cited text no. 6
    
7.
Cornier AS, Ramirez N, Arroyo S, Acevedo J, Garcia L, Carlo S, et al. Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. Am J Med Genet A 2004;128A(2):120-6.  Back to cited text no. 7
    
8.
Tsiligiannis T, Grivas T. Pulmonary function in children with idiopathic scoliosis. Scoliosis 2012;7(1):7.  Back to cited text no. 8
    
9.
Pediatric Acute Lung Injury Consensus Conference G. Pediatric acute respiratory distress syndrome: consensus recommendations from the Pediatric Acute Lung Injury Consensus Conference. Pediatr Crit Care Med. 2015;16(5):428- 39.  Back to cited text no. 9
    
10.
Motoyama EK, Yang CI, Deeney VF. Thoracic malformation with early-onset scoliosis: effect of serial VEPTR expansion thoracoplasty on lung growth and function in children. Paediatr Respir Rev 2009;10(1):12-7.  Back to cited text no. 10
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1]



 

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