Heterogeneity of liver disorder in type B Niemann-Pick disease.

Patients with type B Niemann-Pick disease (NPD) are known to be complicated with varying degrees of prognosis-determining liver dysfunction. To see heterogeneity of the dysfunction histologically, we performed liver biopsies on three NPD patients from three different families, who were diagnosed by enzyme assay of acid sphingomyelinase (ASM) and analysis of the ASM gene. In a severe case, of a female patient in her childhood, the liver showed definite fibrosis despite her age. In contrast, in a very mild case, of an adult male patient, the liver showed little fibrosis, though the ballooning of hepatocytes and infiltration of foamy histiocytes were observed in the tissue. Three homo-allelic mutations (S436R, A599T, and S231P) were identified in the patients. Thus, various hepatic phenotypes in type B NPD were shown to be caused by the heterogeneity of liver lesions originating from different ASM gene mutations.

Ossification of the posterior longitudinal ligament. Autosomal recessive trait.

STUDY DESIGN: This study analyzed the mode of inheritance of ossification of the posterior longitudinal ligament (OPLL) from the pedigree of a family. OBJECTIVES: The results were correlated to provide a new mode of inheritance of OPLL. SUMMARY OF BACKGROUND DATA: Although a nation-wide multicenter survey of OPLL has been carried out in 347 subjects and 1030 relatives in Japan since 1981, no parental consanguinity has been reported. METHODS: In the family, three siblings and one other member of a family underwent operations for OPLL in our department, and the clinical information regarding other family members was obtained from interviews with these four patients or relatives. RESULTS: The parents of three affected siblings and another unaffected sister were first cousins, and the father was suspected to be affected as well. CONCLUSION: Transmission of OPLL as an autosomal recessive trait in this family, which has not been reported, is suspected; although, the possibility that it is a dominant trait can not be excluded.

99mTc(V)-DMSA and 67Ga-citrate images in a patient with recurrent extraabdominal fibromatosis.

67Ga-citrate and 99mTc(V)-DMSA images were obtained in a patient with recurrent extraabdominal fibromatosis of the left calf. The 67Ga-citrate image showed abnormal uptake in the left calf lesion and right calf, which was considered due to probable myositis caused by overexertion. On the other hand, the 99mTc(V)-DMSA image showed abnormal uptake only in the left calf lesion. Surgical and radiation therapy was performed. Two years after the treatment, two lesions of the recurrent extraabdominal fibromatosis followed, and a 99mTc(V)-DMSA image could demarcate the two lesions. 99mTc(V)-DMSA images were considered to be useful in following up of recurrent extraabdominal fibromatosis.

A case of malignant fibrous histiocytoma of the ilium, evaluation by blood-pool scintigraphy.

A rare case of malignant fibrous histiocytoma (MFH) of the ilium was presented and blood-pool scintigraphic images and angiographic images were correlated. Hypervascular tumor and lacking of contrast material with arteriovenous shunts were shown by angiography. Intensive tracer accumulation was shown by blood-pool scintigraphy. After radiation therapy and transcatheter arterial embolization of the tumor, tracer accumulation was noticeable reduced. These findings suggested a vascular tumor such as angiosarcoma, but surgery revealed MFH of the bone. Blood-pool scintigraphy was useful in the evaluation of the vascular characteristics of the tumor.

Simulation by stereographic processing of computed tomography for transtrochanteric rotation osteotomy in necrosis of the femoral head.

The transtrochanteric rotation osteotomy described by Sugioka will preserve the femoral head in patients with avascular necrosis of the femoral head, but there is controversy about the clinical results. We developed a simulation system for rotation osteotomy, based on stereographic processing through computed tomography, the object being to determine the indication for this procedure and the degree of rotation required. This method makes it possible to determine the degree of rotation needed to displace the necrotic areas from the weightbearing zone; the need for a varus osteotomy can also be assessed. Our clinical results improved when we used this method. CT stereographic drawings in patients with avascular necrosis of the femoral head are useful for assessing the necrotic area.

Cross-sectional area of the stenotic lumbar dural tube measured from the transverse views of magnetic resonance imaging.

The cross-sectional area of the lumbar dural tube was calculated from transverse-slice lumbosacral magnetic resonance images (MRI) using the simple geometric formulas and computerized digitizer in 51 patients with low-back pain only, 79 with mainly radicular symptoms, and 53 with intermittent claudication, and in 39 controls with confirmed symptomatic lesions at a nonlumbar level or of a nonspinal organ. Findings suggesting developmental narrowing of the spinal canal were found not only in the intermittent claudication group, but also in the radicular pain group. Cross-sectional area of < 100 mm2 at more than two of three (L2/3, L3/4, and L4/5) intervertebral levels was highly associated with the presence of intermittent claudication. The cross-sectional area value obtained with the simplified geometric formulas was highly correlated with that calculated with the digitizer, indicating that this simple method can be used with MRI in outpatient clinics for the rapid determination of the most stenotic portion of the dural tube.