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

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.

kongenitale Muskel Dystrophie - Laminin-a2

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
• 2 Brooke M H. A clinicians view of neuromuscular diseases. 2nd ed. Williams & Wilkins, Baltimore 1986; 345-354
• 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
• 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
• 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
• 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
• 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
• 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
• 9 Dubowitz V. The muscular dystrophies.  Postgrad Med J. 1992;  68 500-506
• 10 Dubowitz V. Muscle disorders in childhood. 2nd ed. WB Saunders, London 1995: 93-105
• 11 Dubowitz V. Congenital muscular dystrophy: An exparding clinical syndrome.  Annals Neurol. 2000;  47 143-144
• 12 Engrail E. Laminin variants: why where and when?.  Kidney Internat. 1993;  43 2-6
• 13 Engvall E, Wewer U M. The new frontier in muscular dystrophy research: booster genes.  FASEB J. 2003;  17 1579-1584
• 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
• 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
• 16 Fukuyama Y, Haruna H, Kawazura M. A peculiar form of congenital progressive muscular dystrophy.  Pediatr Univ Tokyo. 1960;  4 4-5
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 27 Santavuori P, Leisti J, Kruus S. Muscle eye, brain disease: A new syndrome.  Neuropaediatrie. 1977;  8 553-558
• 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
• 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
• 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
• 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
• 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
• 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
• 34 Toda T, Kobayashi K, Kondo-Iida E, Sasaki J, Nakamura Y. The Fukuyama congenital muscular dystrophy story.  Neuromusc Disord. 2000;  10 153-159
• 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
• 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