Muscular abnormalities in children with muscular hypotonia and cerebral damage.
Forty children with hypotonia and non progressive cerebral impairment were observed. In all cases muscle morpho-histometric and ultrastructural studies were performed, in 13 cases muscular acetylcholinesterase study was carried out. The Authors pointed out the high frequency (92% of cases) of muscle abnormalities: histochemical alteration of fibre type distribution (type 1 or type 2 fibres prevalence, type 2C persistence), diameter change (hypertrophy or hypotrophy of the fibres). In 37.5% of the cases, randomly distributed, were also present myofibrillar degeneration, Z band streaming, desalignment or marked destructuration of the sarcomeres. The muscular acetylcholinesterase study showed the same anomalous pattern of molecular forms (11 out of 13 cases), with increase of light (6S, 4S) and disappearance of heavy (16S) and medium forms (13S, 10S), without significant change of enzymatic activity. The possible alterated influence of CNS on muscle fibre differentiation and growth because of abnormal neural control is discussed. This hypothesis even if could be related with abnormal fibre typing and diameter, do not seem to explain the ultrastructural and biochemical abnormalities observed.
Porro
G
G
I Cattedra di Neuropsichiatria Infantile, Università La Sapienza, Roma.
Carboni
P
P
Spagnoli
L G
LG
Palmieri
G
G
D000110:Acetylcholinesterase / Q000032:analysis; D000293:Adolescent; D002493:Central Nervous System Diseases / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000201:enzymology / Q000473:pathology*; D009132:Muscles / Q000002:abnormalities* / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D009133:Muscular Atrophy / Q000473:pathology
D000110:Acetylcholinesterase