RESUMO
A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features.
Assuntos
Síndrome de Klinefelter/complicações , Distrofias Musculares/complicações , Pré-Escolar , Saúde da Família , Genótipo , Humanos , Cariotipagem , Síndrome de Klinefelter/genética , Masculino , Distrofias Musculares/genética , LinhagemRESUMO
We report a female infant with an isolated deficiency of beta-mannosidase activity. At nine months of age dysmorphism was absent except for brachecephaly. There was moderate developmental delay and a startle response to sound. At 12 months there was a sudden onset of tonic-clonic seizures which were unresponsive to drug therapy, requiring paralysis and mechanical ventilation for control. The child died suddenly aged 15 months. beta-mannosidase activity was markedly reduced in white cells and cultured skin fibroblasts whilst other lysosomal enzymes were normal. The disaccharide ManGlcNAc was excreted in urine but urinary mucopolysaccharides were normal.
Assuntos
Encefalopatias/enzimologia , Epilepsia/genética , Manosidases/deficiência , Anormalidades Múltiplas/enzimologia , Encefalopatias/genética , Cromatografia em Camada Fina , Dissacarídeos/urina , Epilepsia/enzimologia , Feminino , Fibroblastos/enzimologia , Humanos , Lactente , Leucócitos/enzimologia , Oligossacarídeos/urina , beta-ManosidaseRESUMO
An unusual inherited progressive distal myopathy of early childhood onset is described in two sisters from a consanguineous Asian family. Motor milestones were normal but gait deteriorated slowly thereafter with development of generalized hypotonia and muscle weakness particularly in the wrist extensors and hand muscles. Muscle biopsies obtained at the ages of 6 and 10 years respectively (Case 1) showed significant differences. At 6 years muscle morphology and histochemical appearance were normal although type I fibres predominated (79%) and a substantial pool of 'undifferentiated' fibres (12%) was present. By 10 years there was a significant reduction in type I fibres (-13%) and in 'undifferentiated' fibres (-10%) with a concomitant increase in type II fibres (+23%). Fibre size and shape were normal at the age of 6 years but no further fibre growth was evident 4 years later. The older sister (Case 2, age 13 years) was similarly affected. The possibility of this progressive myopathy being caused by loss of neural control at two separate stages of development is discussed. The importance of performing sequential morphometric studies of muscle biopsies from patients with unusual childhood myopathies is emphasized.
