[Muscular dystrophy with central nervous system involvement. Apropos of 2 Spanish cases]

Two spanish male brothers with weakness and muscular dystrophy and affection of the CNS are presented. Muscular disturbances were noticeable from birth and, although generalized, they affected more severely proximal muscles. Both children presented joint contractures from an early stage. None of the patients got to walk and to stand. Muscular serum enzymes were slightly elevated. EMG and muscular histology were compatible with conventional pathology of PMD. Other features of severe alteration of CNS were observed in both patients, being the most significant lack of sphincter control at 13 and 7 years old, mental retardation with an IQ about 70, generalized seizures at 10 years in the older boy and presence of brain alterations at computerized tomography (CT), consisting in low density on subcortical brain parenchima in both cerebral hemispheres and the cerebellum in the older brother and in both cerebral hemispheres in the younger. Clinical course is stationary in both brothers. It seems that in our patients there is an autosomal recessive heredity. All clinical, genetic, EMG, CT and histological features are compatible with congenital progressive muscular dystrophy of Fukuyama type.