FOR SEVERAL WEEKS prior to the formation of mature muscle cells, the process of which is virtually completed by the fifth fetal month in humans,1 the cell exists as a myotube. Similar muscle cells were seen in the biopsy of an adolescent boy with a muscle-wasting disorder.Since this unusual pathological occurrence appears to be unique, it is the purpose of this report to present the clinical, pathological, cytochemical, and electron microscopic studies of this disease. An attempt will also be made to correlate these findings with previously reported studies in myogenesis.
MethodsBiopsy specimens of gastrocnemius muscle were removed on two separate occasions (September 1962 and January 1965) after infiltration of the overlying skin with a local anesthetic. The initial specimen was removed with sutures and fixed in Zenker's solution; the second specimen was removed with a C-shaped clamp designed for that purpose, and fixed in Bouin's solution. Both specimens were oriented in a manner whereby both cross and longitudinal sections could be made. The fixed sections from the first biopsy were stained with hematoxylin and eosin. In addition to this, the sections from the second biopsy were stained with the hematoxylin-van Gieson, Gomori trichrome, periodic acid-Schiff (PAS) and Lillie allochrome techniques.2 During the second biopsy, a muscle specimen was frozen in isopentane cooled to \p=m-\160 C by liquid nitrogen. Thin sections cut in a cryostat were stained unfixed for histochemical and cytochemical studies. Sections were stained with the modified Gomori trichrome technique for morphological de¬ tail.3 Mitochondrial oxidative enzymatic activity and enzymes involved in electron transport were studied with the cytochrome oxidase,1 nicotinamide adenine nucleotide dehydrogenase (NADH),5 and succinic dehydrogenase (SDH) reactions." Myofibrillary activity was sudied using adenosine triphosphatase (ATPase).7 Individual sarcoplasmic contents were studied utilizing amylophosphorylase and the periodic acid-Schiff stain.Lipids were stained using scharlach-R and Sudan black. Sections were also stained for acid phosphatase.8 Immunofluorescence studies were done using rabbit anti-human myosin and fluorescein labelled anti-rabbit globulin.8 Electron Microscopy.-For electron microscopy, tissue immediately frozen at -160 C in liquid nitrogen and stored at -4 C for four weeks was thawed at room temperature and fixed in 1'% osmium tetroxide in barbital (Veronal) acetate buffer10 for two hours. Dehydration was carried on in ascending solutions of acetone, and English Araldite * was used for embedding. A microtome was used for sectioning of the blocks. The sections were examined in an electron microscope.A 12-year-old white boy was admitted to Chil¬ dren's Hospital of Philadelphia in January 1965 for evaluation of muscle weakness and repeat muscle biopsy. This was prompted by uniquely abnormal fibers found in routine review of the patient's muscle biopsy done in 1962.This boy (Fig 1) was the product of his then 30-year-old mother's fifth...