Tubular aggregate myopathy: a rare form of myopathy.
Tubular aggregate myopathy (TAM) is a rare form of myopathy with an autosomal dominant or recessive pattern. Four rare cases of TAM are described. All patients presented with muscle aches and pains, sometimes cramps. Muscle biopsies were snap frozen and processed for routine, special, enzyme, and immunohistochemistry. Tissue was also processed for electron microscopy. Muscle biopsy revealed similar changes characterized by subsarcolemmal accumulation of granular material that stained red with modified Gomori trichrome stain, intense blue with nicotinamide adenine dinucleotide-tetrazolium reductase, but was non-reactive to succinyl dehydrogenase and cytochrome oxidase stains. Ultrastructural examination showed aggregates of hexagonal tubules in the subsarcolemmal region, which are pathognomonic of this entity. This report highlights the importance of histochemistry and electron microscopy for accurate diagnosis; otherwise TAM can be misdiagnosed on clinical grounds as a metabolic or mitochondrial myopathy.
Jain
Deepali
D
Department of Pathology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India.
Sharma
Mehar Chand
MC
Sarkar
Chitra
C
Suri
Vaishali
V
Sharma
Surinder Kumar
SK
Singh
Sumit
S
Das
Taposh Kumar
TK
D000328:Adult; D006801:Humans; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology; D018482:Muscle, Skeletal / Q000503:physiopathology / Q000648:ultrastructure; D020914:Myopathies, Structural, Congenital / Q000473:pathology / Q000503:physiopathology; D009243:NAD / Q000378:metabolism; D035583:Rare Diseases; D055815:Young Adult
D009243:NAD