In recent years, there have been described a number of patients with /3-galactosidase and neuraminidase deficiency of juvenile onset.^1-5) The clinical features in these patients are myoclonus, cherry-red spots, insidious visual loss, corneal clouding, like appearance and ataxia. The condition appears to be transmitted as an autosomal recessive trait. Pathologically it has been characterized that there are vacuolation of lymphocytes, and inclusion bodies such as concentric membranousbodies in the ganglion cells of the rectum.⁶⁾ Here we report a patient with β-galactosidase and neuraminidase deficiency of juvenile onset in whomunusual "fingerprint" profiles were obtained in the submucosal ganglion cells in the rectum and will discuss the clinical significance of the inclusion bodies.

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ラヂアル荷重8～65kg,囘轉数16.6～100r.p.s.に於て,單列ラヂアル球軸受6302複列調心型球軸受1302,圓錐ころ軸受30302の摩擦を測定した結果,凡そ次の結果が得られた.
(1)本實験の如く,極めて少量の潤滑油を與へた場合には,100r.p.s.以下の範圍では,速度による摩擦の變攣化は餘り著しくない
(2)グリース潤滑に於ては,特に低荷重の場合,速度の影響が比較的大きい.
(3)球車受に比較して,圓錐ころ軸受は特に摩擦が大きく,單列ラヂアル球軸受の約2～5.5倍の摩擦係数を示してゐる.
(4)スピンドル油とGargoyleD.T.E. 1ight oilとでは,摩擦に大きな差違がないが,グリースはそれに比して大きな摩擦を示す.例へば單列ラヂアル球軸受では,高荷重で約2倍,程度,低荷重では8倍にも達する.
(5)油潤滑の場合の摩擦モーメンは,
M=M₀+aL_r^b
なる形で表はされ,單列ラヂアル球軸受ではb=1.7,複列調心型球軸受ではb=1.25～1.45であるが,圓錐ころ軸受ではb=1となつてゐる.

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Two siblings with mucolipidosis were reported. The first case was a 22 year-old female.Her chief complaints were tachycardia and unsteadiness of gait, which were gradually progressive.Clinical pictures were characterized by the presence of slightly face, angiokeratomas, corneal opacities, macular cherry-red spots, ataxic gait, abnormal movement(probably action myoclonus), anterior beaking of vertebral body, paroxysmal supraventriculartachycardia, vacuolated cells in the fibroblasts of the skin, bone marrow andperipheral lymphocytes. The second case was a 15 year-old boy and the brother of the firstcase. He showed hearing disturbance, distinct myoclonus and generalized seizures but ECGrevealed a normal sinus rhythm. Other features resembled to the first case. Both casesindicated deficiency of β-galactosidase in leukocytes and normal urinary excretion of uronicacid containing mucopolysaccharides. Epileptic pattern in EEG was detected in both cases.They have clinical features of both mucopolysaccharidoses and sphingolipidoses and theymost resemble mucolipidosis I to which Spranger and Wiedemann proposed. But mucolipidosisis a rather equivocal disease entity and therefore it is possible that further heterogeneityexists within the mucolipidosis. However, the name of mucolipidosis is considered to be useful in practice at present, until biochemical identification of an abnormal storagesubstances are detected. The neurological findings of the second case are thought to be atypical case with dyssynergia cerebellaris myoclonica and these of the first case, an atypicalone.

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A 4 ²/₁₂-year-old girl with fucosidosis was described who is a first documented case in Japan. It was noted that α-L-fucosidase activity was completely absent in liver tissue, white blood cells, cultured skin and fibroblasts. In the liver tissue obtained by biopsy, fucose-rich glycolipids as well as glycoprotein was found to be markedly increased, whereas the amounts of acid mucopolysaecharide estimated by the uronic acid content were only slightly elevated.

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Although mucolipidosis, a fatal metabolic storage disorder, is associated with cardiovascular abnormalities, detailed, non-invasive cardiac examinations have not been well documented. We studied 4 children with type II and type III mucolipidosis, 3 of whom had unequivocal evidence of aortic regurgitation characterized by phonocardiography and M-mode echocardiography. Two-dimensional echocardiography showed an aortic valve prolapse in 3, a mitral valve prolapse in 2 and a tricuspid valve prolapse in 1. The QT interval was prolonged in 2 cases.
In 1 autopsy case, we found considerably thickened and retracted aortic, mitral, and tricuspid valves, and an accumulation of the foam cells in the myocardium. Echocardiography revealed similar findings in another 3 cases.
We conclude that cardiac manifestations in this disorder should be examined carefully particularly by the use of echocardiography which is an excellent technique for detecting cardiovascular abnormalities in mucolipidosis.

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Mucopolysaccharidosis is often associated with spinal deformities such as kyphosis, atlanto-axial instability. The kyphosis responds well to treatment with Milwaukee brace in infant, but may require surgical treatment if it is severe and progressive.
We have experienced a case of mucopolysaccharidosis with severe kyphotic deformity who underwent surgical treatment successfully. The patient was a seventeen years old male complaining of kyphosis and gait disturbance. Physical examination revealed short statue, flexion contracture of both elbow, hip and knee joints, mental retardation, heat murmur and hepatomegaly, but no face, corneal clouding. No neurological abnormality was seen except for hyperreflexia of the bilateral lower limbs. Roentgenograms of the spine showed os odontoideum and thoraco-lumbar kyphosis measured 65 degrees from the eleventh thoracic to the third lumbar vertebrae. In biochemical findings, the excessive urinary excretion of mucopolysaccharides was seen, but the inactivity of any enzyme was not significant.
The patient, treated by two-stage operation with anterior and posterior procedures, had initial improvement in the kyphosis from 65 to 8 degrees.

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Gagroylism, congenital disorder of mucopolysaccharide metabolism, was first described by Hunter in 1917. Its main clinical features are as follows; 1) mental retardation, 2) dwarfism, 3) appearance, 4) hepatomegaly and splenomegaly and 5) corneal opacity.
Recently, we have observed a ten-years-old boy who suffered from protuberant abdomen and retardation of growth. Clinically, a limitation in joints movement and an umbilical herniation as well as the above mentioned features except corneal opacity, were existed. On X-ray examination, an enlarged Turkish saddle, oar-shaped ribs, cocave lenz-shaped vertebral bodies, coxa valga and hypoplastic carpalia were observed.
We performed tetracycline bone labelling in this case. The number of tetracycline labelled osteons per mm² of cortical cross section (symbol; Af) was 1.0 in the eleventh rib of this case. It was less than the Af in 10 age normal subjects.

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Scheie's syndrome (mucopolysaccharidosis type I-S) is a rare genetic lysosomal storage disease affecting mucopolysaccharide metabolism, and is known to include cardiovascular disease. Surgical treatment was carried out in 2 patients with Scheie's syndrome. Patient 1 was a 56-year-old man with triple-vessel coronary artery disease, who successfully underwent coronary artery bypass grafting. Patient 2 was a 52-year-old man with aortic and mitral valve stenosis, who successfully underwent combined aortic and mitral valve replacement. The literature on Scheie's syndrome associated with valvular and coronary artery disease is also reviewed. (Jpn Circ J 1998; 62: 700 - 703)

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The biochemical abnormality in the Sanfilippo syndrome was reported by Meyer and Hoffman and later confirmed by Sanfilippo and co-workers. They found that scme -like patients excreted excessive amounts of heparan sulfate in the urine.
The clinical characteristics are severe mental retardation and relatively mild somatic changes.
The Sanfilippo syndrome (MPS III) is inherited as an autosomal recessive trait like Hurler synd rome.
Case Y. N., a boy aged 5 years and 11 months, was first seen in January, 1971. The parents are apparently unrelated. For the first 3 years of life, the boy was not considered abnormal. In the latter part of his forth year delayed speech and an increase in aggressive behavior were noted. Thereafter, agitation increased markedly. His clinical symptoms were good bodily strength, gargoylelike face, mental retardation with delayed development, hepatomegaly, and stiffness of large joints. There was us cloudy cornea or hearing loss. X-ray showed thickened calvarium, oval vertebrae and pelvic dysplasia.
Urinary acid mucopolysaccharide was chemically isolated, most of which was heparan sulfate: there was no dermatan sulfate.

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We describe a 40-year-old male patient with Hunters syndrome. His main manifestations were ascites and esophageal varices due to cirrhotic liver. We obtained hepatic biopsy samples and examined them. Ultrastructurally, the features of the hepatocytes and Kupffer cells were the same as those reported in young patients. The passage of 40 years led to gradual progression to fibrosis, and ultimately liver cirrhosis. Namely, with a longer survival time, the complications of liver cirrhosis become more remarkable. Hepatic fibrosis in Hunters syndrome is slowly progressive and patients who are expected to have a longer life span should be continuously monitored for hepatic complications.

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The study aims to clarify the relationship between Le Corbusier's global concept regarding the environment ("Sun, Space, Green") and its realization in the transformation of the architectural form of the Villa Sarabhai (1952-1955) in Ahmedabad, India. According to an analysis of the Le Corbusier Archives, Carnets (Sketchbooks) and Le Corbusier's correspondence, Le Corbusier studied the architectural space of the Villa Sarabhai using the low-level vault to receive the wind and to merge into the landscape from the start of the project. However, in the process of this project, the rooftop form was transformed. That is, a roof garden where one could stroll freely on the vault was conceived. This horizontal layout with the "roof garden" differs from the utopian one that had been planned and achieved in the 1920's. The "roof garden" of Ahmedabad is a reflection of the relationship with the specific natural environment which Le Corbusier encountered.

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Gargoylism or Hurler disease, first described by Hunter, is a generalized congenital disease of the connective tissue.
Recently, we observed a eight-years-old boy who suffered from a limitation in articular movement and delayed growth, and established the diagnosis of Gargoylism by;
1. Dwarfism, appearance and mental retardation
2. Typical roentgenographic findings, especially in the vertebral bodies
3. Very high mucopolysacharide content in the urine
4. Abnormal cytoplasmic inclusions in a proportion of lymphocytes
5. The same deformities being found in his sister

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Cerebral and visceral glycolipids of a patient with the Tay-Sachs disease were investigated in the present study. The disease was found to be characterized by excessive accumulation of Tay-Sachs ganglioside (G₀) in the brain, but any storage of ganglioside was not detected in other visceral organs such as the spleen, kidney or liver. Tay-Sachs globoside was also present only in the Tay-Sachs brain. It was found that only a trace amount of glucocerebroside and a small amount of ceramide lactoside were present in the brain with the Tay-Sachs disease. The fatty acid composition of ceramide lactoside, globoside or ganglioside (G₀) in the Tay-Sachs brain was different from that of cerebroside and sulfatide, being composed mostly of stearic acid. TaySachs ganglioside (G₀) contained mostly C₁₈-sphingosine, besides small amounts of C₁₈-dihydrosphingosine and G_2O-sphingosine. Moreover, it was noted that ceramide dihexo-side showing two bands on thin layer chromatography was the major glycolipids in the Tay-Sachs spleen glycolipids and that the Tay-Sachs liver contained mostly ceramide trihexoside and hematoside. A normal neonatal human brain was used for comparison. Contrary to the Tay-Sachs ganglioside, the amounts of major gangliosides in the normal neonatal human brain were roughly in the order of G₁₁>G₁>C₁₁₁.

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Gargoylism, abnormal metabolic disease of acid mucopolysaccharides, was first described by Hunter in 1917. Recently we experienced a case of this disease in 9-years-old boy who was suffering from a limitation in articular movement and delayed growth.
Chief clincal findings in our case are followings,
1. Dwarfism, appearance and mulitiple articular rigidity due to maldevelopment of bones and joints
2. Slight mental retardation, opaque corneas and hard of hearing
3. Slight cardiac hypertrophy, protuberant abdomen, umbilical hernia and hirsutism
4. Typical X-ray findings in almost every bones and joints
5. Evidence of mucopolysaccharide in the urine

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