Case Report - Congenital fiber type disproportion: A rare type of congenital myopathy: A report of four cases

Congenital fiber type disproportion is a rare type of congenital myopathy which presents as hypotonia, delayed motor milestones and dysmorphic facies. During the past 2 years we received 449 muscle biopsies, of which 4 cases were diagnosed as congenital fiber type disproportion (CFTD). In addition to CFTD, one case also had centronuclear features. Three of them were females and one was a male child. Although rare, it should be considered in the differential diagnosis of childhood muscle diseases. Histochemical staining is necessary for the diagnosis of this entity.

Keywords
Congenital myopathy, myopathic disorder, muscle, congenital fiber type disproportion, enzyme histochemistry