Congenital rapidly fatal form of nemaline myopathy with fetal hydrops and arthrogryposis. A case report and review

Fetal Diagnosis and Therapy

Volumn 13, Issue 4, 1998, Pages 244-249

  Vardon, D ^a   Chau, C ^a   Sigodi, S ^b   Figarella Branger, D ^b   Boubli, L ^a  

^a HÔPITAL NORD   (France)

^b TIMONE HOSPITAL   (France)

Author keywords

Congenital rapidly fatal form; Fetal akinesia; Fetal hydrops; Genetics; Muscle biopsy; Nemaline myopathy; Ultrasonography

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; FATALITY; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; FETUS MOVEMENT; GENETIC COUNSELING; GENETICS; HISTOPATHOLOGY; HUMAN; MALE; MUSCLE BIOPSY; NEMALINE MYOPATHY; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS;

ADULT; ARTHROGRYPOSIS; BIOPSY; FATAL OUTCOME; FEMALE; FETAL DISEASES; HUMANS; HYDROPS FETALIS; MUSCLES; MYOPATHIES, NEMALINE; PREGNANCY;

EID: 0031736853     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000020847     Document Type: Article

References (52)

1. Conen PE, Murphy EG, Donohue WL: Light and electron microscopic studies of myogranules in a child with hypotonia and muscle weakness. Can Med Assoc J 1963;89:983-986.
2. Shy GM, Engel WK, Somers JE, Wanko T: Nemaline myopathy - A new congenital myopathy. Brain 1963;79:793-810.
3. Goebel HH, Lennard HG: Congenital myopathies: in Rowland LP, DiMauro S (eds): Myopathies. Handbook of Clinical Neurology. Amsterdam, Elsevier Science, 1992, vol 18. pp 331-367.
4. Banker BQ: The congenital myopathies; in Engel AG, Banker BQ (eds): Myology - Basic and Clinical. New York, McGraw-Hill, 1986, pp 1527-1581.
5. Shafiq SA, Dubowitz V, Peterson HC, Milhorat AT: Nemaline myopathy: Report of a fatal case with histochemical and electromicroscopic studies. Brain 1967;90:817-828.
6. Kohn IS Nemaline myopathy: A fatal case Am J Dis Child 1967;114:95-100.
7. Neustem HB: Nemaline myopathy: A family study with three autopsied cases. Arch Paihol Lab Med 1973;96:192-195.
8. McComb RD, Markesbery WR, O'Connor WN: Fetal neonatal nemaline myopathy with multiple congenital anomalies J Pediatr 1979; 94:47-51.
9. Gillies C, Rave J, Vasan U, Hart WE, Goldblatt PJ: Nemalme (rod) myopathy: A possible cause of rapidh fatal infantile hypotonia. Arch Pathol Lab Med 1979;103:1-5
10. Matsuo T, Tashiro T, Ikeda T: Fatal neonatal nemaline myopathy. Acta Pathol Jpn 1982;32: 907-916.
11. Norton P, Ellison P, Sulaiman AR, Harb J: Nemaline myopathy in the neonate. Neurology 1983;33:351-356.
12. Eeg Olofsson O, Henriksson KG, Thornell LE, Wesstrom G: Early infant death in nemaline (rod) myopathy. Brain Dev 1983;5:53-57.
13. Me Menamin JB, Curry B, Taylor GP: Fatal nemaline myopathy in infancy. Can J Neurol Sci 1984;11:305-309.
14. Bucher HU, Boltshauser E, Briner J: Neonatal nemaline myopathy presenting with multiple joint contractures. Eur J Pediatr 1985;144: 288-290.
15. Netter JC, Laurent Peilegrin M, Bildstein G, Chateauneuf R, Petrus M: Myopathie à bâtonnets - une observation néonatale létale. Arch Fr Pédiatr 1986;43:327-329.
16. Banker BQ: Arthrogryposis multiplex congenita: Spectrum of pathologic changes. Hum Pathol 1986;17:656-672.
17. Schmalbruch H, Kamieniecka Z, Arroe M: Early fatal nemaline myopathy: Case report and review. Dev Med Child Neurol 1987;29:800804.
18. Cartw right JD, Castle DJ, Duffield MG, Reef I: Nemaline myopathy: A report of two siblings as evidence of autosomal recessive inheritance of the infantile type. Postgrad Med J 1990;66: 962-964.
19. Quinn CM, Wiggiesworth JS, Heckmatt J: Lethal arthrogryposis multiplex congenita: A pathological study of 21 cases. Histopathoiogy 1991;19:155-162.
20. Rifai Z, Kazee AM, Kamp C, Griggs RC: Intranuclear rods in severe congenital nemaline myopathy. Neurology. 1993;43:2372-2377.
21. Vuopala K, Leisti J, Herva R: Lethal arthrogryposis in Finland - A clinicopathological study of 83 cases during thirteen years. Neuropediatrics 1994;25:30S-315.
22. Teeuw AH, Banh PG, van Sonderen L, Zondervan HA- Drie voorbeelden van genetische neuromusculaire aandoeningen bij de foetus die leiden tot hydramnion. Ned Tijdschr Geneeskd 1993;137:908-913.
23. Bergmann M, Kamarampaka M, Kuchelmeister K, Klem H, Koch H: Nemaline myopathy: Two autopsy reports. Childs Nerv Sya 1995; 11:610-615.
24. Venditelli F, Manctet-Labarchède C, GilbertDussardier B: Nemaline myopathy in the neonate: Two case reports. Eur J Pedsatr. 1996; 155:502-505.
25. Wada H, Nishio H, Kugo M, Waku S, Ikeda K, Takada S, Murakami R, Itoh H, Matsuo M, Nakamura H: Severe neonatal nemahne myopathy with delayed maturation of muscle Brain Dev 1996;18:135-138.
26. Lammens M, Moerman Ph, Fryns JP, Lemmens F, van de Kamp GM, Goemans N, Dom R: Fetal akinesia sequence caused by nemaline myopathy. Neuropediatrics 1997;28:116-119.
27. Tsujihata M, Stumomura C, Yoshimura T, Sato A, Ogawa T, Tsuji Y, Nagataki S, Matsuo T: Fatal neonatal nemaline myopathy: A case report. J Neurol Neurosurg Psychiatry 1983; 46:856-859.
28. Voirin J, Borne JB, Laloum D, Chapon F: Myopathie à bâtonnets de découverte néonatale et d'évolution favorable. Arch Fr Pediatr 1990; 47:201-202.
29. Roig M, Hernandez MA, Salcedo S: Survival from symptomatic nemaline myopathy in the newborn period. Pediatr Neurosci 1987;13:9597.
30. Nonaka I, Tojo M, Sugita H: Fetal muscle characteristics m nemaline myopathy Neuropediatrics 1983;14:47-52.
31. Fulthorpe JJ, Gardner Medwin D, Walton JN: Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia. Neurology 1969;19:735-748.
32. Ishibashi Ueda H, Imakita M, Yutani C, Takahashi S, Yazawa K, Kamiya T, Nonaka I: Congenital nemaline myopathy with dilated cardiomyopathy, an autopsy study. Hum Pathol 1990;21:77-82.
33. Ropert JC, Magny JF, Boulley AM, Delaporte B, Marot J, Vial M, Dehan M: Sémiologie périnatale des maladies neuro-musculaires sévères, à propos de 11 cas. Arch Fr Pediatr 1984;41: 689-694.
34. Machin GA: Hydrops revisited: Literature review of 1,414 cases published in the 1980s. Am J Med Genet 1989;34:366-390.
35. Moerman Ph, Fryns JP: The fetal akinesia deformation sequence - A fetopathological approach. Genet Counsel 1990;1:25-33.
36. Fahy MJ, Hall JG: A retrospective study of pregnancy complications among 828 cases of arthiogryposis. Genet Counsel 1990;1:3-11.
37. Porter HJ: Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS). Pediatr Pathol Lab Med 1995; 15:617-637.
38. Evans MI, Greb A, Kunkel LM, Sacks AJ, Johnson MP, Boehm C, Kazazian HH Jr, Hoffman EP: In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy. Am J Obstet Gynecol 1991;165:728-732.
39. Kuller JA, Hoffman EP, Fries MH, Golbus MS: Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy. Hum Genet 1992;90-34-40.
40. Evans MI, Farrell SA, Greb A, Ray P, Johnson MP, Hoffman EP: Prenatal diagnosis of Duchenne muscular dystrophy by fetal muscle biopsy. Am J Med Genet 1993;46:309-312.
41. Benzie RJ, Ray P, Thompson D, Hunter AG, Ivey B, Salvator L: Prenatal exclusion of Duchenne muscular dystrophy by fetal muscle biopsy. Prenat Diagn 1994;14:235-238.
42. Evans MI, Hoffman EP, Cadrin C, Johnson MP, Qmntero RA, Golbus MS: Fetal muscle biopsy: Collaborative experience with varied indications. Obstet Gynecol 1994;84:913-917.
43. Evans MI, Krivchenia EL, Johnson MP, Quintero RA, King M, Pegoraro E, Hoffman EP: In utero fetal muscle biopsy alters diagnosis and carrier risks in Duchenne and Becker muscular dystrophy. Fetal Diagn Ther 1995;10:71 - 75.
44. 40th ENMC sponsored International Workshop: Nemaline Myopathy, Naarden, Feb 1996, Neuromusc Disord 1996;5:389-391.
45. Bodensteiner JB: Congenital myopathies. Muscle Nerve 1994;17:131-144.
46. Goebel HH, Warlo I: Nemaline myopathy with intranuclear rods - Intranuclear rod my opathy. Neuromusc Disord 1997;7:13-19.
47. Arts WF, Bethler J, Dingemans KP, Enksson AW: Investigations on the inheritance of nemaline myopathy. Arch Neurol 1978;35:7277.
48. Kondo K, Yuasa T: Genetics of congenital nemaline myopathy. Muscle Nerve 1980;3: 308-315.
49. Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, Haan E: A mutation in alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet 1995;9:75-79.
50. Laing NG, Madja BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, Groth DM, Boundy KL, Kneebone CS, Blumberg PC, Wilton SD, Speer MC, Kakulas BA: Assignment of gene (NEMI) for autosomal dominant nemaline myopathy to chromosome 1. Am J Hum Genet 1992;50:576-583.
51. Wallgren-Pettersson C, Avela K, Marchand S, Kolehainen J, Tahvanainen E, Hansen FJ, Muntoni F, Dubowitz V, DeVisser M, Van Langen IM: A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromusc Disord 1995;5:441-443.
52. North KN, Laing NG, Wallgren-Petterson C, and the ENMC International Consortium on Nemane Myopathy: Nemaline myopathy: Current concepts. J Med Genet 1997;34:705-713.