Guerrero-González M, Fernández del Campo-Chenqe M, Ortiz-Trejo JM

Language: Spanish
References: 24
Page: 541-546
PDF size: 75.74 Kb.

ABSTRACT

Background: Jarcho Levin syndrome is an eponym consisting with a set of multiple vertebral and rib anomalies, characterized by a short neck, short trunk and short height, which trigger respiratory failure and early neonatal death. The frequency and spectrum of morphological defects in our environment is unknown. The purpose is to report a case.
Case report: a female newborn, product of the third pregnancy in a woman of 29 years, with a history of three previous miscarriages; she had a twin pregnancy and hypothyroidism later. Prenatal ultrasound performed at 28-29 weeks of gestation showed polyhydramnios, mild duodenal atresia, annular pancreas likely, agenesis of lumbar vertebrae. Springs out at 38 week, turreted skull, short neck, thoracoabdominal dissociation, anal stenosis, hypotrophic external genitalia, hypoplastic pelvic limbs, popliteal hyperflexion. Imaging identifies intestinal atresia, scoliosis, lumbar vertebrae agenesis, defects of segmentation on fourth and fifth right ribs. Laparotomy confirmed bad rotation of small intestine and colon, complete annular pancreas with Meckel diverticulum.
Conclusions: this syndrome is a set of phenotypes derived from skeletal malformations and other defects. The outcome is a according with the severity and quality.

REFERENCES

1. Kulkarni ML, Navaz SR, Vani HN, Manjunath KS, Matani D. Jarcho-Levin syndrome. Indian J Pediatr 2006;73(3): 245-247.

2. Durán MA, Carbajal DM. Controversias acerca del síndrome de Jarcho-Levin: defecto de segmentación vertebral múltiple. Rev Mex Pediatr 2003;70(6):295-298.

3. Montoya JH, Morales OL. [Four cases of Jarcho-Levin’s syndrome in the province of Antioquia, Colombia]. Biomedica 2009;29(1):25-32.

4. Hatakeyama K, Fuse S, Tomita H, Chiba S. Jarcho-levin syndrome associated with a complex congenital heart anomaly. Pediatr Cardiol 2003;24(1):86-88.

5. Wong G, Levine D. Jarcho-Levin syndrome: two consecutive pregnancies in a Puerto Rican couple. Ultrasound Obstet Gynecol 1998;12(1):70-73.

6. Eliyahu S, Weiner E, Lahav D, Shalev E. Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. Ultrasound Obstet Gynecol 1997;9(5):314-318.

7. Cornier AS, Ramírez N, Arroyo S, Acevedo J, García 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): 120-126.

8. Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N. Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet 2008;82(6)1334-1341.

9. Campbell RM Jr. Spine deformities in rare congenital syndromes: clinical issues. Spine 2009;34(17):1815-1827.

10. Onay OS, Kinik ST, Otgün Y, Arda IS, Varan B. Jarcho- Levin syndrome presenting with diaphragmatic hernia. Eur J Pediatr Surg 2008;18(4):272-274.

11. Inan N, Corapcioglu F, Akansel G, Yildiz K, Ozdamar AS, Mutlu A. A case of Jarcho-Levin syndrome associated with bilateral cystic renal disease and wilms tumor: MR imaging findings. Pediatr Hematol Oncol 2009;26(7):496- 503.

12. Dane B, Dane C, Aksoy F, Cetin A, Yayla M. Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis. Fetal Diagn Ther 2007; 22(6):416-419.

13. Park Y, Gong G, Choe G, Yu E, Kim KS, Lee I. Jarcho-Levin syndrome. A report of an autopsy case with cytogenetic analysis. J Korean Med Sci 1993;8(6):471-475.

14. Gärtner R. Thyroid diseases in pregnancy. Curr Opin Obstet Gynecol 2009;21(6):501-507.

15. Lazarus JH. Thyroid disorders associated with pregnancy: etiology, diagnosis, and management. Treat Endocrinol 2005;4(1):31-41.

16. Amaresh Reddy P, Rajagopal G, Harinarayan CV, Vanaja V, Rajasekhar D, Suresh V, et al. High prevalence of associated birth defects in congenital hypothyroidism. Int J Pediatr Endocrinol 2010:940980. Doi: 10.1155/2010/940980

17. Savasta S, Chiapedi S, Borali E, Perrini S, Sepe V, Caimmi S, et al. Holoprosencephaly with neurogenic hypernatremia: a new case. Childs Nerv Syst 2008;24 (1):139-142.

18. Kacinski M, Jaworek M, Skowronek-Bala B. Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion. Brain Dev 2007;29(3):164-166.

19. Fukunaga K. Refractory gastrointestinal bleeding treated with thyroid hormone replacement. J Clin Gastroenterol 2001;33(2):145-147.

20. Chung MY, Ko TY, Huang CB, Lee CH, Hsieh CS. Biliary atresia associated with meconium peritonitis. Chang Gung Med J 2006;29(2):203-206.

21. Chen BH, Chen LY, Jaw TH, Chao MC. Cleidocranial dysplasia: a rare case associated with congenital hypothyroidism and severe neonatal hyperbilirubinemia. Kaohsiung J Med Sci 1998;14(1):53-57.

22. Betz RR, Mulcahey MJ, Ramirez N, Flynn JM, Smith JT, St Hilaire T, et al. Mortality and life-threatening events after vertical expandable prosthetic titanium rib surgery in children with hypoplastic chest wall deformity. J Pediatr Orthop 2008;28(8):850-853.

23. Campbell RM Jr. Spine deformities in rare congenital syndromes: clinical issues. Spine 2009;34(17):1815-1827.

24. Ballantyne A, Newson A, Luna F, Ashcroft R. Prenatal diagnosis and abortion for congenital abnormalities: is it ethical to provide one without the other? Am J Bioeth 2009;9(8):48-56.