Multi-minicore disease: a rare form of myopathy.
BACKGROUND
Multi-minicore disease is a rare form of myopathy characterized by slowly progressive or nonprogressive muscle weakness and characteristic multiple cores within the muscle fibers. To the best of our knowledge, this is first documentation of the clinicopathological features of this rare entity from India.


METHODS
A ll cases of multi-minicore disease diagnosed in our laboratory were retrieved. Clinical and pathological features were reviewed.


RESULTS
During a period of two years (January 2004 to December 2005), we received 985 muscle biopsies for various reasons. Of which, 15 were diagnosed as myopathies and four of which were of multi-minicore disease. Thus, multi-minicore disease comprises 0.40% of all muscle diseases and 26.6% of all myopathies. All were male and presented in early childhood (first decade of life) with generalized hypotonia and muscle weakness. All of them had dysmorphic facies and three had high arched palate. CPK levels were normal and EMG was myopathic except in one patient. Microscopic examination revealed minimal changes with Type I fibers' predominance but characteristic multiple cores in the myofibers. Ultrastructural examination showed both structured and unstructured cores.


CONCLUSIONS
Multi-minicore disease, although a rare form of myopathies, should be suspected in children who present with generalized hypotonia and slowly progressive muscle weakness along with dysmorphic facies.
Sharma
M C
MC
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India. sharmamehar@yahoo.co.in.
Gulati
S
S
Sarkar
C
C
Jain
D
D
Kalra
V
V
Suri
V
V
D002648:Child; D002675:Child, Preschool; D004576:Electromyography / Q000379:methods; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D018485:Muscle Fibers, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D018908:Muscle Weakness / Q000503:physiopathology; D009139:Musculoskeletal Abnormalities; D020512:Myopathy, Central Core / Q000473:pathology* / Q000503:physiopathology*; D012189:Retrospective Studies