[Western type cerebro-muscular dystrophy and congenital merosin deficiency muscular dystrophy: two terms for the same disorder].
BACKGROUND
Congenital muscular dystrophies (CMD) are a clinically heterogeneous group of muscular disorders characterized by hypotonia, muscle weakness and early or congenital joint contractures. Electromyography reveals a myopathic pattern, creatine-kinase (CK) may be moderately elevated and muscle biopsy shows pathological changes consistent with a dystrophic process.


OBJECTIVE
Report the cases of two brothers with 'Occidental type cerebro-muscular dystrophy' versus 'merosin-deficient CMD'.


METHODS
Two children, a boy and a girl, of a first consanguineous parents. In the first case, the diagnosis of Occidental type cerebro-muscular dystrophy was made in 1983, at the age of 4 years, according to clinical, biochemical, electromyographic, pathological and neuroradiological data. In the second case, the diagnosis of merosindeficient form of CMD was made with the same criteria and with immunohistochemistry and Western blot techniques in 1997, when she was 6 months old.


CONCLUSIONS
Occidental type cerebro-muscular dystrophy, described 13 years ago by one member of our group, corresponds with merosin-deficient form of CMD.
Departamento de Pediatría, Hospital General de Galicia, Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, España. pdcastro@uscmail.usc.es
M
M
Castro-Gago
M I
MI
Novo-Rodríguez
E
E
Pintos-Martínez
A
A
Alonso-Martín
R
R
Morales-Redondo
J
J
Eirís-Puñal
D001921:Brain / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007797:Laminin / Q000172:deficiency*; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D009626:Terminology as Topic; D014057:Tomography, X-Ray Computed
D007797:Laminin
Distrofia cerebromuscular tipo occidental y distrofia muscular congénita deficiente en merosina: dos denominaciones para una misma entidad.