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.
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
M C
MC
Sharma
A M
AM
Ralte
S K
SK
Atri
S
S
Gulati
V
V
Kalra
C
C
Sarkar
D000293:Adolescent; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006651:Histocytochemistry / Q000379:methods; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D020914:Myopathies, Structural, Congenital / Q000378:metabolism / Q000473:pathology*; D013194:Staining and Labeling