Abstract
A 16-year-old male with typical features of rigid spine syndrome orginally reported by Dubowitz in 1970, was studied by x-ray computed tomography (CT), histochemistry and electron-microscopy.
A CT scan of the muscles showed characteristic findings of remakable hypodensities of the cervical multifidus, semispinalis cervicis and capitis, multifidus of the back, erector spinae, long heads of biceps femoris and soleus muscles.
Histochemical studies of the left rectus femoris muscle revealed increased variation in fiber diameters with type I fiber atrophy, partial necrosis and fatty degeneration, infiltration of phagocytes and no ragged red fiber. An electron microscopic examination disclosed increased vacuoles and lipid bodies, dilatation of sarcoplasmic reticula, deformed mitochondria and cytoplasmic bodies associated with derangement of myofibrils. The feature of Z band streaming strongly suggested that the cytoplasmic body originated from Z band degenaration.
A review of the histopathological findings of the past literatures was also made.
