ABSTRACT
We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzymes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.
Subject(s)
Contracture/congenital , Marfan Syndrome/genetics , Child, Preschool , Contracture/complications , Exons , Female , Humans , Marfan Syndrome/complications , Muscular Atrophy/complications , Muscular Atrophy/congenital , Muscular Atrophy/pathologyABSTRACT
We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous
Subject(s)
Humans , Female , Child, Preschool , Contracture/congenital , Marfan Syndrome/genetics , Contracture/complications , Exons , Marfan Syndrome/complications , Muscular Atrophy/complications , Muscular Atrophy/congenital , Muscular Atrophy/pathologyABSTRACT
We report a family with three generation affected by an autosomal dominant centronuclear palsy. This gene is characterized by ptosis that begins in childhood and a slowly progressive weakness that starts in the second decade of life, involving face, neck and limbs. In this stage, muscle pan associated to exercise or cold muscle sparms may apprear. The gene is expressed with differing intensity in each individual. Myopathic electro myographic alterations are only found in fuctionally impaired subjects. Muscle biopsy shows type I fiber atrophy and central nuclei in a high percentage of fibers, specially in type I fibers
Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Blepharoptosis/congenital , Neuromuscular Diseases/congenital , Muscular Atrophy/congenitalABSTRACT
The authors report 11 cases of congenital disproportion of fibers, confirmed through clinical and complementary examinations. In these 11 cases early fibrotendinous retractions were frequent and CK proved to be high. At muscle biopsy histochemistry revealed a selective atrophy of type I fibers. This is a rarely frequent congenital dystrophy, of slow progression and benign evolution.
Subject(s)
Muscular Atrophy/congenital , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Muscle Hypotonia/pathology , Muscles/pathology , Muscular Atrophy/genetics , Muscular Atrophy/pathologyABSTRACT
Two unrelated patients with multiple ankyloses, pulmonary hypoplasia, and characteristic facies syndrome had definite evidence of severe spinal muscular atrophy of prenatal onset. In addition, there were specific changes in the adrenal cortex.
Subject(s)
Ankylosis/congenital , Arthrogryposis/diagnosis , Lung/abnormalities , Muscular Atrophy/congenital , Arthrogryposis/pathology , Back , Female , Humans , Infant, Newborn , Male , Muscles/pathology , Muscular Atrophy/pathology , Spinal Cord/pathologySubject(s)
Infant , Humans , Intestines , Muscular Atrophy/congenital , Intestinal Obstruction/congenital , PeritonitisABSTRACT
A case of a 6-years-old boy with delayed motor milestones, hypotonia since birth (floppy baby), showing a partial improvement in the latter years is reported. On physical examination was found diffuse muscle atrophy, lordosis, generalized hyporeflexia and Gowers maneuver during standing procedure. Serum enzymes were normal and electromyography had potential with increased duration and excess of polyphasic potentials. Fresh-frozen muscle biopsy processed by histochemistry showed type 1 fiber predominance, absence of oxidative enzyme activity in the center of the fibers (central cores) and slight increased of the ATPase reaction in the cores area (structured cores?). Is made a brief discussion about the pathology, pathogenesis, and the good prognosis of the disease.