Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

Journal of Pediatric Surgery

Volumn 42, Issue 7, 2007, Pages

  Danhaive, Olivier ^a   Lozzi, Simona ^a   D'amico, Adele ^a   Devito, Rita ^a   Boldrini, Renata ^a   Corchia, Carlo ^a   Bagolan, Piero ^a   Bertini, Enrico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Actin; Diaphragmatic eventration; Respiratory insufficiency; Rod bodies; Tropomyosin

Indexed keywords

ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CONGENITAL DIAPHRAGM HERNIA; ECHOCARDIOGRAPHY; FEMALE; GASTROSTOMY; HEART ATRIUM SEPTUM DEFECT; HUMAN; LAPAROTOMY; MUSCLE BIOPSY; NEMALINE MYOPATHY; NEWBORN; PRIORITY JOURNAL; RESPIRATORY FAILURE; THORAX RADIOGRAPHY; TRACHEOSTOMY;

DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; HERNIA, DIAPHRAGMATIC; HUMANS; INFANT, NEWBORN; MYOPATHIES, NEMALINE; RADIOGRAPHY, THORACIC;

EID: 34347358512     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2007.04.030     Document Type: Article

References (17)

1. Bianchi D.W. Diaphragmatic hernia. In: Bianchi D.W., Crombleholme T.M., and D'Alton M.E. (Eds). Fetology. Diagnosis and management of the fetal patient (2000), McGrawHill, New york 299-311
2. Jurcak-Zaleski S., and Comstock C.H. Eventration of the diaphragm: prenatal diagnosis. J Ultrasound Med 9 (1990) 351-354
3. Yazici M., Karaca I., Arikan A., et al. Congenital eventration of the diaphragm in children: experience in three pediatric surgery centers. Eur J Pediatr Surg 13 (2003) 298-301
4. Graziano C., Bertini E., Minetti C., et al. Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy. Int J Mol Med 13 (2004) 805-809
5. Pitt M., Houlden H., Jacobs J., et al. Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. Brain 126 (2003) 2682-2692
6. Graham G.E., Silver K., Arlet V., et al. King syndrome: further clinical variability and review of the literature. Am J Med Genet 78 (1998) 254-259
7. Moermans P., Fryns J.P., Devlieger H., et al. Congenital eventration of the diaphragm: an unusual cause of intractable respiratory distress with variable etiology. Am J Med Genet 27 (1987) 213-218
8. Yong S.C., Boo N.Y., and Ong L.C. A case of congenital myotonic dystrophy presented with diaphragmatic paresis during the neonatal period. J Paediatr Child Health 39 (2003) 567-568
9. Vendittelli F., Manciet-Labarchède C., and Gilbert-dussardier B. Nemaline myopathy in the neonate: two case reports. Eur J Pediatr 155 (1996) 502-505
10. Sanoudou D., and Beggs A.H. Clinical and genetic heterogeneity in nemaline myopathy-a disease of skeletal muscle thin filaments. Trends Mol Med 7 (2001) 362-368
11. Ryan M.M., Schnell C., Strickland C.D., et al. Nemaline myoptahy: a clinical study of 143 cases. Ann Neurol 50 (2001) 312-320
12. Lammens M., Moerman P., Fryns J.P., et al. Fetal akinesia sequence caused by nemaline myopathy. Neuropediatrics 28 (1997) 116
13. Wallgren-Pettersson C., and Laing N.G. Report of the 70th ENMC international workshop: nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. Neuromuscul Disord 10 (2000) 299-306
14. Wallgren-Petersson C., Pelin K., Nowak K.J., et al. the ENMC international consortium on nemaline myopathy. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin. Neuromuscul Disord 14 (2004) 461-470
15. Jesudason E.C. Challenging embryological theories on congenital diaphragmatic hernia: future therapeutic implications for paediatric surgery. Ann R Coll Surg Engl 84 (2002) 252-259
16. Casaccia G., Crescenzi F., Dotta A., et al. Outcome at 2 years of infants with congenital diaphragmatic hernia: a population-based study. Ann Thorac Surg 75 (2003) 250-256
17. Jaillard S.M., Pierrat V., Dubois A., et al. Outcome at 2 years of infants with congenital diaphragmatic hernia: a population-based study. Ann Thorac Surg 75 (2003) 250-256