CONGENITAL RAPIDLY FATAL FORM OF NEMALINE MYOPATHY WITH FETAL HYDROPSAND ARTHROGRYPOSIS - A CASE-REPORT AND REVIEW

A new lethal case of nemaline myopathy is reported. The diagnosis was made by postmortem muscle biopsy. The child died before his first day of life. This is one of the very rare cases of nemaline myopathy with severe antenatal ultrasonographic signs: fetal hydrops and arthrogrypo sis. In a review of the literature other cases of the congenital rapid ly fatal form are found, some of them with clinical decrease of fetal movements but only few authors report ultrasonographic signs. The diag nostic, histopathogenic, genetic and evolutive aspects of this heterog eneous disorder are analyzed. This congenital nonprogressive myopathy is not as benign as previously thought and may be an etiology of the l ethal form of arthrogryposis multiplex congenita. The existence of ult rasonographic antenatal signs seems to be a factor of poor prognosis. In spite of recent genetic discoveries, there is at present no specifi c antenatal diagnosis. Consequently, muscle biopsy in lethal cases is very important to allow a genetic counselling; however, in utero fetal biopsy has never been performed in such cases.