A three-year-old boy with phosphoglycerate kinase deficiency was described. He had severe retardation of mental and motor abilities. Muscle dystrophy was concluded from the following poins; the rise in serum creatine phosphokinase (skeletal muscle type by isoenzyme analysis), myogenic pattern in electro myography, muscledegenerationsinmicroscopicfindings,
Clinical and electron microscopic observation of a case with nemaline myopathy is presented as the report from Japan has been very limited. The patient was a 3 year and 10 m onth old boy who showed marked hypotonia, wryneck and scoliosis since birth. Hematological study and serum chemistry were within. normal limit. E. M. G. demonstrated myopathic pattern. Multiple classical nemali ne bodies (rods) were demonstrated by electron microscopic study of the biopsy of the brachial biceps. Light microscopy of the section stained with Azan and PTAH and thick section of the Epon embeded, toluidine blue stained section also permit identification of the rods in the muscle fibers. Ultrastructural invest igation of the longitudinally sectioned rods revealed sbout 100 Angstrom periodicity parallel to the long axis and occasionally about 150 A striation perpendicular to the long axis. The transverse section of the rods demonstrated regularly arranged cross section of the filaments. The diameter was 55-60Aand the spacing was 90-110A. The filaments of the rods were apparently thinner than the thin filaments of the nearby myofilament and differ from Z band structure.
Histochemical and electron microscopic examinations on biopsied quadriceps muscle in two cases with Down's syndrome (1-year-old and 6-year old girls): revealed the following findings. Histologically; the fundamental structure of muscle was well preserved; there were ob served no degenerated nor regenerated fibers but variability of moderate degree in fiber size was noticed. Histochemically type II fibers were smaller in size than type I, moreover, there was the type I fiber predominance, which was more prominent in the older case. Though the enzyme activities of muscle fibers were within normal limits in phosphorylase, succinic dehydrogenase, aldolase and myosin ATPase. Electro n microscopic examination showed no remarkable changes, except moderate disarrangement of the myofilament and increased myofibrillar glycogen. From our experience and literatures, the muscles o f most diseases of the central nervous system show type II fiber atrophy, but none of them shows the type I fiber predominance. So the type 1 fiber predominance found in our cases is considered t o be a specific histochemical feature of the muscle of Down's syndrome, suggesting another factor being involved in muscle pathology of Down's syndrome different from the other central nervous system diseases.
A 13 year-old girl with “Myotubular Myopathy” was reported. The patient was floppy and had general muscular weakness with oculofacial involvement at birth, which subsequently showed no progression. Biopsy of the quadriceps femoral muscle revealed the central nuclei with changes of the peri-central nuclear myofibrils in 82% of type I and 70% of type II fibers. Mean diameter of the fiber in DPNH diaphorase stain was 25 microns in type I and 30 microns in type II. A review of the literature on the reported cases of myotubular myopathy showed a considerable variety in their clinical features and muscular changes with different views concerning the pathogenesis of the disease. Myotube-like changes are prominent in small type I fibers of the most of reported cases, including ours. In the course of myogenesis, type I fibers are slow in maturation and are thought to be fragile.
A severely handicapped, 5-year-old girl with hydrocephalus was reported. She was premature but delivery was uneventful. She was said hydrocephalic at 5 months of age. She can neither speak anyword nor achieve head control. Convulsive attacks began at one year ten months. Contractures of hip and knee joints have progressed gradually. At four years ten months, muscle biopsy was done because of elevated serum CPK level. Diagnosis was made' as congenital muscular dystrophy, Fukuyama type, on the basis of clinical findings and laboratory data including histological findings. Her elder sister is said to be suffered from cerebral palsy and DMP. We think that the correct diagnosis was delayed on the pr esent case because of severe and multiple handicaps in spite of positive family history and early floppiness. It is possible that there ocurred congenital muscular dystrophy and hydroCephalusi ncidentally. However, we would like to think some common etiologic factors or correlations between congenital muscular dystrophy and C. N. S. involvements.
An autopsy case of 9 month old male who had congenital muscular dystrophy and congenital hydrocephalus was reported. At delivery amniotic fluid was turbid. He did not breathe promptly. Birth weight was 3280 g and head circumference, 32 cm. Physical exammination reveal ed large head which was measured 50.9 cm in circumference at 3 month old, cataracta of both eyes, cryptorchidism and contrucre of knee and ancle joints with atrophic extremities. Serum creatinin e phosphokinase was elevated. EMG showed myogenic pattern. On autopsy, cerebral hemispheres were sac form ap p earnce and convolusions were flat. Parenchyma was markedly atrophic. Corpus callosum was preserved only at the anterior portion. Ague3 duct showed occulsion at the middle of its course. Cerebellar folia were poorly developed. Pons, medulla and spinal cord were not remarkable. Microscopically, neurons of cerebral hemispher es, basal ganglia, pons, medulla and spinal cord were normal. Aqueduct showed detachme nt of ependyma and forking. Cytoarchitecture of cerebellar cortex was disorganized. Muscles of extremities showed anemic and atrophic appear ance. Microscopically, interstitial fibrosis and fatty change were remarkable. Marked variation in fiber size, with some swal len fibers in markedly atrophic fibers, were observed. No anomaly was observed in other internal organ s.
Changes in the offspring of rats exposed to acute hypoxia during pregnancy were investigated in terms of the circadian rhythm of plasma corticosterone contents and brain acetylcholine levels for periods ranging from 15 to 120 postnatal days. The accelerated maturation of the daily adrenocortical rhythm and the retarded maturation of the circadian rhythm of brain acetylcholine levels were observed in the offspring of the maternal animals subjected to acute hypoxia three times. The same offspring, on the other hand, began to show, when as late as 90 to 120 days old, certain changes of the circadian rhythms already formed, which were characterized by the significant decrease in the evening value for corticosterone and also by that in the morning for brain acetylcholine levels as compared with the control groups. The more often the offspring experienced acute hypoxia in the fetal stage, the more markedly the above changes occurred. It was postulated that experimental acute hypoxia imposed on the mother produced certain chemical changes in the brain of offspring.
We reported here ruselts of observations about an 11 -year-old male case of congenital muscular dystrophy presenting muscular hypotonia from the birth, restriction of the proximal articular mobility, hyperflexibility of the distal joints, high arched palate, increased sweating and normal intelligence. These clinical features correspond to those reported by Ullrich (die kongenitale atonischsklerotische Muskeldystrophie: Typ Ullrich, 1930). Electromyographic examination revealed a myogenic pattern, and the levels of serum creatine phosphokinase and lactic dehydrogenase were slightly elevated. The biopsied muscle from the left quadriceps femoris presented variation in size of the muscle fibers, mostly measuring 7-10 p or less in diameter, and mild endo- and perimysial fibrosis. A light microscopic study revealed none of the fibers undergoing degenerative changes such as hyaline, floccular degeneration, or phagocytosis. While most of the fibers maintained the normal ultrastructure, some degenerative changes were observed electron microscopically: the loss of band structure with dissolution of Z-line, vacuolation of sarcoplasmic reticulum and disappearance of myofilament.
A 15-year-old girl is presented who has a clinical feature of de Sanctis-Cacchione syndrome xerodermia pigmentosum complicated with neurological abnormalities, such as microcephaly, mental retardation, difficulty in hearing, impaired speech, gait disturbance and tremor of hands etc. In agreement with Cleaver and Epstein et al, a defect in DNA repair mechanism was demo nstrated in the skin of patient in vivo.
Numerous complications following the ventriculo-atrial shunt for congenital hydrocephalus have been documented and discussed during the past two decades. Recently a few cases of secondary craniosynostosis have been described in the literature as a rare complication after shunting operation. Authors had a chance to follow up this rare complication subsequent to the ventriculo-atrial shunt for hydrocephalus. Sudden and persisting reduction of intracranial pressure is assumed to be the main contributing factor for producing premature synostosis of cranial sutures which were proved to be once separated each other in hydrocephalic condition.
The cerebral vessels change during the period of growth. And so the angiogram may reveal the cerebral or the cerebrovascular damage in the early age. From those points of view, 8 cases of acute infantile hemiplegia and 6 cases of secondary craniostenosis were observed for the investigation of cerebral atrophy.