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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

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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