Early clinical signs and imaging findings in Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu).

OBJECTIVE: To determine the clinical and radiologic features of Gerstmann-Sträussler-Scheinker syndrome caused by Pro102Leu mutation in PRNP (GSS102). METHODS: The authors report 11 patients (nine families) with clinically and radiologically diagnosed GSS102. RESULTS: All patients showed mild gait disturbance, dysesthesia and hyporeflexia of the lower legs, and truncal ataxia, and 9 of 11 patients showed proximal leg muscle weakness during the early stage of the disease. Dementia was not a main symptom during the early stage. Brain MRI and EEG abnormalities were not prominent initially. SPECT (N-isopropyl-p-[(123)I]iodoamphetamine) analyzed by the three-dimensional stereotactic surface projection (SSP) method detected abnormalities in five patients early during the course of the illness. SPECT findings showed diffusely decreased cerebral blood flow, demonstrated by a mosaic pattern, with the lowest perfusion noted in the occipital lobes. In contrast, blood flow to the cerebellum was preserved. These studies suggested sites of pathology in GSS102, with the main lesions probably located in the cerebrum and the spinal cord (posterior horn and spinocerebellar tract) instead of the cerebellum. CONCLUSIONS: Key features for early diagnosis of Gerstmann-Sträussler-Scheinker syndrome caused by Pro102Leu mutation in PRNP (GSS102) are truncal ataxia, dysesthesia and hyporeflexia of the lower legs, and mild dysarthria. Normal cerebellar MRI and abnormal cerebral SPECT findings are characters of early GSS102.

Venous sac embolization of pulmonary arteriovenous malformation: preliminary experience using interlocking detachable coils.

PURPOSE: To evaluate the indication and advantages of venous sac embolization of pulmonary arteriovenous malformations (PAVMs) using interlocking detachable coils (IDCs). METHODS: We performed percutaneous embolization in 12 PAVMs in four patients using IDCs, initially placed in the venous sac or at the feeding artery to prevent systemic migration of additional coils. We placed the IDCs in the venous sac in PAVMs with the following vascular architecture: the draining vein was larger than the feeding arteries and both vessels were interposed with the venous sac or there were short feeding arteries. RESULTS: Complete occlusion was achieved in all 12 PAVMs without significant complications. We deployed IDCs in the venous sac in eight PAVMs and in the feeding artery in four. CONCLUSION: Venous sac embolization may be beneficial in PAVMs with large out-flow vessels or short feeding arteries. IDCs are suitable for this procedure.

Periarticular calcification in systemic lupus erythematosus.

OBJECTIVE: To describe the radiologic manifestations of periarticular calcification in patients with systemic lupus erythematosus (SLE) and to investigate clinical variables associated with its occurrence. METHODS: Hand radiographs and clinical records of 52 patients who had 4 or more features of the 1982 revised criteria for classifying SLE and who had no other collagen vascular diseases were analyzed retrospectively. RESULTS: Periarticular calcifications were found in 7 patients (13.5%) near the distal and proximal interphalangeal (DIP and PIP) joints and metacarpophalangeal (MCP) joints. No significant association with calcification was noted for the following variables: age at disease onset, duration of the disease, sex, the maximum value of the serum calcium, organic phosphate, and uric acid, Raynaud's phenomenon, lupus nephritis, femoral avascular necrosis, central nervous system lupus, proteinuria, or the use of drugs such as corticosteroids, synthetic vitamin D, and nonsteroidal antiinflammatory drugs. However, a significant association was noted with the use of furosemide (p < 0.01 by chi-square). In 5 patients periarticular calcification was observed during or just after hyperuricemia had developed while taking diuretics. CONCLUSION: Periarticular calcification in patients with SLE was seen in the DIP, PIP, and MCP joints, and appeared to be associated with the use of diuretics. If patients with SLE are prescribed a diuretic regimen, crystal associated arthritis should be considered as a possibility when diagnosing oligoarthritis.

Oculomotor nerve invasion of acute myelogenous leukemia demonstrated by magnetic resonance imaging.

A 53-year-old male was diagnosed as having acute myelogenous leukemia (M2, FAB). He complained of double vision and right blepharoptosis after receiving remission induction chemotherapy. Magnetic resonance imaging (MRI) showed enlargement of the bilateral oculomotor nerves. Intrathecal injections of methotrexate and cytosine arabinoside were partially effective and repeated MRI showed shrinkage of the enlarged oculomotor nerves, after therapy. This case shows the importance of MRI in the early diagnosis of CNS leukemia.

[CT findings of the irradiated intestinal wall: comparison of early vascular phase and delayed equilibrium phase].

The intestinal walls of the irradiated pelvic tumor cases of 20 patients were studied. CT manifestations of the irradiated intestinal wall were examined at the early vascular phase (examined 40 seconds after the injection of contrast medium by helical scan) and at the delayed equilibrium phase (examined 4 to 5 minutes after the injection of contrast medium by rapid sequence scan). Two characteristics were identified: intestinal wall thickening and a three-layered pattern. The former was better depicted on equilibrium phase, whereas the latter was clearer on early vascular phase. Differences in visualization of the wall thickening on vascular phase and delayed phase were statistically significant. The three-layered pattern was considered to suggest severe inflammatory edematous change of the intestinal wall. Early enhancement of the mucosal and muscular-serosal layers with less enhancement of the submucosal layer, and homogeneous distribution of the contrast medium to the interstitium on delayed phase were considered to be the reason.

High level cross of the esophagus with the descending aorta in scoliosis: CT study.

OBJECTIVE: The esophagus occasionally crosses the descending aorta at an unusually high level (3-5 cm inferior to the carina) in right-sided scoliosis. The purpose of this study was to analyze the mechanism of this finding. MATERIALS AND METHODS: We prospectively evaluated thoracic CT scans in 30 patients with right-sided scoliosis. We assessed the alterations in the positions of the esophagus and the descending aorta by the thoracic deformity. RESULTS: The descending aorta followed the scoliotic curve of the spine in 26 (87%) patients. The esophagus followed the scoliotic curve of the spine in 14 (47%) patients and did not in 16 (53%). The anteroposterior diameter of the thorax in the former group was significantly smaller than that in the latter (p < 0.01). High level cross of both structures was identified in 14 (47%) patients, and all of them belonged to the group in which the esophagus did not follow the scoliotic curve of the spine. CONCLUSION: The unusual high level cross of the esophagus with the descending aorta occasionally seen in scoliosis is due to a difference in the positional alterations of the two structures resulting from the scoliosis.

Effect of acute nitrogen dioxide exposure on the composition of fatty acids in lung and liver phospholipids.

In order to examine the effects of NO2 on the fatty acid content of the lung and liver phospholipids, the phospholipid fractions of rats exposed to 20 ppm NO2 for 20 and 40 h were extracted and analyzed using gas chromatography. Among the ftty acid species in the lung, the relative amount of palmitic acid, palmitoleic acid and linoleic acid increased significantly, whereas myristic acid, stearic acid and oleic acid decresed significantly after exposure to NO2. These changes in the composition of fatty acids are discussed in comparison with the results of acute, subacute and chronic exposure to NO2 reported by other workers. In the case of the fatty acid species in the liver, a significant increase for stearic acid and arachidonic acid and a decrease in oleic acid were observed.

The localization of acetylcholinesterase in the optic lobe in the developing chick embryo.

The localization of acetylcholinesterase (AChE) in the optic lobe in the developing chick embryo was studied histochemically and biochemically. The histochemical reaction of AChE increased remarkably between stage 42 and 44 especially in the neuropile. The increase of the biochemical activity of the AChE in the synaptic membrane fraction occurred at a later stage than that in the microsomal fraction. These findings can be interpreted as the result of axonal transport of the enzyme from the synthetic to the synaptic site.

[Changes in cholinesterase activity of gastrocnemius and soleus muscles of the rat after crush of the sciatic nerve, and effects of a vitamin B complex on those changes (author's transl)].

In an analysis of the gastrocnemius muscle, the microsomal fraction showed the highest cholinesterase (ChE) activity. The ChE activity of all fractions decreased to a greater extent after strong nerve crushing than after weak crushing. This change in the activity in the microsomal fraction was the most marked change observed. Although in the analysis of the soleus muscle the ChE activity was measured only in the homogenate and in the microsomal fraction, the results were the same as those obtained with the gastrocnemius. A preparation of vitamins B1, B2, and B12 (B complex) had little effect on the ChE activity in the gastrocnemius muscle. In the soleus muscle on the lesion side, the B complex increased the ChE activity to some extent after nerve crushing, but such was not significant. However, the B complex signifiicantly increased this activity in the soleus on the intact side. In the soleus muscle, strong nerve crushing induced more marked muscle atrophy than weak crushing. On the other hand, no significant difference was found in the gastrocnemius. Effects of the B complex on muscle atrophy were found in the soleus, but not in the gastrocnemius. These results suggest that the ChE activity in the microsomal fraction containing sarcoplasmic reticulum reflects the nervous disorders clearly, and that the B complex increases the ChE activity and muscle weight in the soleus, but not in the gastrocnemius muscle.

Changes in cholinesterase activity of muscle after crushing the sciatic nerve of rats.

The subcellular distribution of cholinesterase (ChE) was studied in the gastrocnemius muscle of rats after strong or weak nerve crushing. The ChE activities of muscle were decreased to a greater extent by strong crushing than by weak crushing. In particular, the ChE activity of the fraction containing sarcoplasmic reticulum was most greatly decreased. These results suggest that the change in the ChE activity of the microsomal fraction most finely reflects the strength of nerve crushing.