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.
Sharma
M C
MC
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Ralte
A M
AM
Atri
S K
SK
Gulati
S
S
Kalra
V
V
Sarkar
C
C
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