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Klin Padiatr 2005; 217(5): 281-285
DOI: 10.1055/s-2005-836451
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© Georg Thieme Verlag Stuttgart · New York

Kongenitale Muskeldystrophie mit Merosin-(Laminin-a2)-Mangel im frühen Säuglingsalter: Diagnostik und Langzeitverlauf

Kongenital Muscular Dystrophy with Laminin-a2 Deficiency in Early Infancy: Diagnosis and Long-Term Follow-UpC. Panteliadis1 , E. Karatza1 , I. Xinias1 , N. Flaris1 , M. Tzitiridou1 , G. Ramantani1
  • 1III. Abteilung für Pädiatrie, Aristoteles Universität Thessaloniki und Labor für Pathologische Anatomie, Hippokration Krankenhaus, Thessaloniki, Griechenland
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Publication History

Publication Date:
12 July 2005 (online)

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Zusammenfassung

Die kongenitalen Muskeldystrophien (CMD) bilden eine heterogene Gruppe von neuromuskulären Erkrankungen. Sie sind durch Hypotonie und Muskelschwäche bei Geburt oder in den ersten Lebensmonaten charakterisiert. Der Defekt wird autosomal rezessiv vererbt. Ungefähr 50 % der Fälle (Kinder) zeigen einen kompletten Merosinmangel (Laminin-a2). Wir berichten von einem Säugling mit kongenitaler Muskeldystrophie und komplettem Merosinmangel, mit Hypotonie im Neugeborenenalter. CMD wurde vom klinischen Bild und histologischen und immunohistochemischen Untersuchungen der Muskelbiopsien diagnostiziert.

Abstract

Congenital muscular dystrophy (CMD) is a heterogenous group of neuromuscular disorderes characterized by muscle weakness and hypotonia at birth or within the first few months of life. It is inherited in an autosomal recessive pattern. About half of the patients have a deficiency of the alpha-2-chain of laminin (merosin). We describe a case of congenital muscular dystrophy in an infant with laminin-a2-chain deficiency, which appeared hypotonia in early infancy. Diagnosis was made by clinical features and the histological and immunohistochemical studies on muscle biopsy.

Schlüsselwörter

kongenitale Muskel Dystrophie - Laminin-a2

Key words

congenital muscular dystrophy - laminin-a2

Literatur

  • 1 Banker B Q. The congenital muscular dystrophies. In: Engel AG. Franzini-Armstrong C (eds). Myology. 2nd ed. McGraw Hill, New York 1994; 1275-1289
    Google Scholar
  • 2 Brooke M H. A clinicians view of neuromuscular diseases. 2nd ed. Williams & Wilkins, Baltimore 1986; 345-354
    Google Scholar
  • 3 Burgeson R E, Chiquet M, Deutzmann R, Ekblome P, Engel J, Kleinman H. et al . A new nomenclature for the laminins.  Matrix Biol. 1994;  14 209-211
    CrossrefPubMedGoogle Scholar
  • 4 Caro P A, Scavina M, Hoffman E, Pergoraro E, Marks H G. MR imaging findings in children with merosin deficient congenital muscular dystrophy.  Am J Neuroradiol. 1999;  20 324-326
    PubMedGoogle Scholar
  • 5 Cohn R D, Herrmann A, Sorokin L, Wener M, Volt T. Laminin a2 chain-deficient congenital muscular epitage expression in severe and mild cases.  Neurology. 1998;  51 94-100
    PubMedGoogle Scholar
  • 6 Cormand B, Avela K, Pihko H, Santavuori P, Talim P, Topaloglu H. et al . Assignment of the muscle-eye-brain disease gene to 1p32-34 by linkage analysis and homozygosity mapping.  Am J Hum Genet. 1999;  64 126-135
    CrossrefPubMedGoogle Scholar
  • 7 Darras T B. Neuromuscular disorders in the hypotonic infant. In: Panteliadis PC (ed). Encyclopedia of Paediatric Neurology. 2nd ed. Giahoudi-Giapouli, Thessaloniki 1999: 752-773
    Google Scholar
  • 8 Dobyns W B, Pagon A A, Armstrong D, Curry C JR, Greenberg F, Grix A. et al . Diagnostic criteria for Walker-Warburg-Syndrome.  Am J Med Genet. 1989;  32 195-210
    CrossrefPubMedGoogle Scholar
  • 9 Dubowitz V. The muscular dystrophies.  Postgrad Med J. 1992;  68 500-506
    PubMedGoogle Scholar
  • 10 Dubowitz V. Muscle disorders in childhood. 2nd ed. WB Saunders, London 1995: 93-105
    Google Scholar
  • 11 Dubowitz V. Congenital muscular dystrophy: An exparding clinical syndrome.  Annals Neurol. 2000;  47 143-144
    PubMedGoogle Scholar
  • 12 Engrail E. Laminin variants: why where and when?.  Kidney Internat. 1993;  43 2-6
    PubMedGoogle Scholar
  • 13 Engvall E, Wewer U M. The new frontier in muscular dystrophy research: booster genes.  FASEB J. 2003;  17 1579-1584
    CrossrefPubMedGoogle Scholar
  • 14 Flannigan K M, Kerr L, Bromberg M B, Leonard C, Tsuruda J, Zhang P. et al . Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological and genetic study.  Ann Neurol. 2000;  47 147-161
    PubMedGoogle Scholar
  • 15 Fowler M C, Manson J L. Congenital muscular dystrophy with malformation of the central nervous system. In: Kakulas BA (ed). Clinical studies in myology. Elsevier, Amsterdam 1973; 192-197
    Google Scholar
  • 16 Fukuyama Y, Haruna H, Kawazura M. A peculiar form of congenital progressive muscular dystrophy.  Pediatr Univ Tokyo. 1960;  4 4-5
    PubMedGoogle Scholar
  • 17 Hayashi Y K, Koga R, Tsukahara T, Ishii H, Matsuishi T, Yamashita Y, Nonaka I, Arahata K. Deficiency of laminin alpha-2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy.  Muscle Nerve. 1995;  18 1027-1030
    PubMedGoogle Scholar
  • 18 Helbling-Leclerc A, Zhang X, Topaloglu H, Gruand C, Tesson F, Weissenbach J. et al . Mutations in the Laminin a2-chain gene (LAMA-2) cause merosin-deficient congenital muscular dystrophy.  Nat Gent. 1995;  11 216-218
    CrossrefPubMedGoogle Scholar
  • 19 Hillaire D, Leclerc A, Faure S, Topaloglou H, Chiannilkulchai N, Guicheney P. et al . Localisation of merosin-negative congenital muscular dystrophy to chromosome 6q22 by homozygosity mapping.  Hum Mol Genet. 1994;  3 1657-1661
    PubMedGoogle Scholar
  • 20 Jones K J, Morgan G, Johnston H, Tobias V, Ouvrier R A, Wilkinson I, North K N. The expanding phenotype of laminin alpha-2-chain (merosin) abnormalities: case series and review.  J Med Genet. 2001;  38 649-657
    CrossrefPubMedGoogle Scholar
  • 21 Klietsch R, Ervasti J M, Arnold W, Campobell K P, Jorgensen A O. Dystrophin-glycoprotein complex and laminin localize to the sarcolemma and transverse tubules of cardiac muscle.  Circ Res. 1993;  72 349-360
    PubMedGoogle Scholar
  • 22 Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kandolida E, Mormura Y. et al . An ancient retrotransposal insertion causes Fukuyama type 6 congenital muscular dystrophy.  Nature. 1998;  394 388-392
    CrossrefPubMedGoogle Scholar
  • 23 Mercuri E, Muntoni F, Berardinelli A, Pennock J, Sewry C, Philpot J, Dubowitz V. Somatosensory and visual evoked potenzials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status.  Neuropediatric. 1995;  26 3-7
    PubMedGoogle Scholar
  • 24 Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C. et al . Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine on chromosome 1p35-36.  Am J Hum Genet. 1998;  62 1439-1445
    CrossrefPubMedGoogle Scholar
  • 25 Muntoni F, Sewry C, Wilson L, Angelini C, Trevisan C P, Brabati B. et al . Prenatal diagnosis in congenital muscular dystrophy [Letter].  Lancet. 1995;  345 591
    CrossrefPubMedGoogle Scholar
  • 26 Philpot J, Cowan F, Pennock J, Sewry C, Dubowitz V, Bydder G, Muntoni F. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.  Neuromusc Disord. 1999;  9 81-85
    PubMedGoogle Scholar
  • 27 Santavuori P, Leisti J, Kruus S. Muscle eye, brain disease: A new syndrome.  Neuropaediatrie. 1977;  8 553-558
    PubMedGoogle Scholar
  • 28 Sewry C A, Philpot J, Sorokin I M, Wilson L A, Naom L, Goodwin F. et al . Diagnosis of merosin (Laminin 2) deficient congenital muscular dystrophy by skin biopsy.  Lancet. 1996;  347 582-584
    CrossrefPubMedGoogle Scholar
  • 29 Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy.  J Child Neurol. 1995;  10 472-475
    PubMedGoogle Scholar
  • 30 Spyrou N, Philpot J, Foal R, Camici P, Muntoni F. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy.  Am Heart J. 1998;  136 474-476
    PubMedGoogle Scholar
  • 31 Sunada Y, Edgar T S, Lotz B P, Rust R S, Campbell K P. Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities.  Neurology. 1995;  45 2084-2089
    PubMedGoogle Scholar
  • 32 Taratuto A L, Lubieniecki F, Diaz D, Schultz M, Ruggieri V, Saccoliti M, Dubrovsky A. Merosin-deficient congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study.  Neuromusc Disord. 1999;  9 86-94
    PubMedGoogle Scholar
  • 33 Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T. et al . Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33.  Nat Genet. 1993;  5 283-286
    CrossrefPubMedGoogle Scholar
  • 34 Toda T, Kobayashi K, Kondo-Iida E, Sasaki J, Nakamura Y. The Fukuyama congenital muscular dystrophy story.  Neuromusc Disord. 2000;  10 153-159
    PubMedGoogle Scholar
  • 35 Tome F MS, Evangelista T, Leclerc A, Sunada Y, Mande E, Esturnet B. et al . Congenital muscular dystrophy with merosin deficiency CR.  Acad Sci (Paris). 1994;  317 351-357
    PubMedGoogle Scholar
  • 36 Tsao C Y, Mendell J R, Rusin J, Laquette M. Congenital muscular dystrophy with complete laminin-alpha 2-deficiency cortical dysplasia and cerebral white matter changes in children.  J Child Neurol. 1988;  13 253-256
    PubMedGoogle Scholar

Prof. Dr. Christos Panteliadis

III. Abteilung für Pädiatrie

K. Palama 4

55133 Thessaloniki, Griechenland

Phone: +30 23 10 44 64 82

Email: cpantel@med.auth.gr

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