Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Among various cases of intracranial hemorrhage in the newborn caused by birth injury, posterior fossa subdural hematoma is of serious nature in many cases and often results in death after critical clinical course due to compression of the respiratory center of the medulla oblongata. We have recently experienced two cases of subdural hematoma in the posterior fossa caused by birth injury, which we successfully treated non-surgically. Herein, we report these two cases and present a sequential CT scan of each. The first case is a full-term (39 weeks gestation) male infant. Delivery was carried out spontaneously with double footling presentation. At 20 hours of age, cyanosis and convulsion occurred. CT scan was performed and revealed high density areas in the posterior fossa, quadrigeminal cistern and longitudinal cerebral fissure. Bloody CSF was discharged per lumbar puncture and glycerol was infused intravenously, but the ventricle became enlarged. At this point at 9 days of age, the infant was admitted to our hospital. While he showed poor activity on admission, hematoma was absorbed gradually and disappeared at 3 months of age by conservative treatment. Now, at 6 years and 6 months of age, the patient has no neurological deficits. The second case is a full-term (40 weeks gestation) twin female infant. Due to breech presentation, delivery was conducted per breech extraction. At three days of age, vomiting, fontanel bulging and hypotonia were observed. CT scan revealed hematoma similar to that seen in the first case, and steroid and glycerol were infused intravenously. Conservative treatment was performed in this case also, and changes shown by CT scan were almost the same as those seen in the first case. The patient has no neurological deficits at 5 years and 7 months of age. Since the introduction of CT scan, early diagnosis of a subdural hematoma in the posterior fossa has been possible. But reports of successful surgical treatment are not so frequent.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Posterior fossa subdural hematoma in the newborn caused by birth injury]. 261

The Galloway syndrome is a rare autosomal recessive disease consisting of congenital microencephaly associated with congenital nephrotic syndrome, and in some cases with hiatus hernia [Galloway and Mowatt, 1968]. The case presented is that of a microencephalic infant with the nephrotic syndrome who died at 11 3/4 months after a course characterized by convulsions, developmental delay, hypotonia and hyperreflexia. Brain weight was 270 g. The frontal, parietal, and rostral temporal cortex was pachygyric. Microscopically there was lack of cortical stratification, immature cortical neurons, improper orientation of cortical neurons (seen in the Golgi stained sections), and glioneuronal ectopias in the leptomeninges. There was hypomyelination in the brain stem and spinal cord, and no myelin in the hemispheres. There was also complete absence of the internal granular layer of the cerebellum. The dentate gyrus within the hippocampal formation was absent and the inferior olivary nuclei were hypoplastic. The mechanism of neuronal migration abnormalities and the significance of associated nephrosis is discussed.
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PMID:Brain morphology in the Galloway syndrome. 272 Oct 45

Six patients with terminal renal failure were subjected to a comparative assessment of the effects of acetate and bicarbonate dialyses on acid-base and gas composition of the blood as well as on the tolerance to the procedures conducted. It is shown that the cross-over of the patients to bicarbonate dialysis made it possible to appreciably reduce the number of side effects. The rate of hypotonia and muscular convulsions reduced by 50%, headache by 30%, nausea and vomiting practically disappeared. The use of the bicarbonate-containing dialysing solution prevented hypoxemia while acidosis correction was more adequate.
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PMID:[Use of bicarbonate dialysis in patients with terminal renal failure]. 279 28

Brotizolam (2-bromo-4-(2-chlorophenyl)-9-methyl-6H-thieno[3,2-f]-1,2,4-triazolo [4,3-a]-1,4-diazepine, We 941, Lendormin) is a thienotriazolo diazepine with predominantly sleep-inducing properties. Additionally, brotizolam, attenuated conflict behavior in rats and inhibited aggressive behavior in mice and cats. Brotizolam prevented audiogenic seizures in mice, seizures provoked by electroshock in rats and inhibited convulsions elicited by electrical stimulation in the limbic system of cats. Furthermore, brotizolam antagonized seizures induced by the convulsant drugs pentetrazol, bicuculline and strychnine in mice. Motocoordination was not impaired within the effective dose range. Muscle relaxant effects appeared at higher doses only. The onset of effect of brotizolam occurred in the different experiments within 15-30 min, thus indicating a fast enteral absorption and penetration of the blood-brain barrier. The duration of action within the therapeutic dose range was between 2-6 h. The effect of brotizolam was compared with other diazepine derivatives. Brotizolam was more active than diazepam, nitrazepam, estazolam, flurazepam and clonazepam and nearly as active as triazolam.
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PMID:Antiemotional and anticonvulsant activity of brotizolam and its effects on motor performance in animals. 287 99

Measurement of pyruvate and lactate produced from glucose by confluent skin fibroblast cultures from 95 patients with lactic acidemia revealed 10 in whom the lactate/pyruvate ratio (L/P) was increased (L/P = 57 to 232) compared with that observed in control cell lines (L/P = 18 to 35). Mitochondria prepared from these cells revealed two types of respiratory chain defect. In four patients the deficient activity was present in NADH-coenzyme Q reductase (14% to 21% of controls), and in six the deficiency was in cytochrome c oxidase (21% to 28% of controls). The four patients with NADH-coQ reductase deficiency presented early with lactic acidosis, respiratory failure, anorexia, and hypotonia; all four died within 7 months. The group with cytochrome oxidase deficiency had a somewhat later (18 months to 2 years of age) presentation with milder lactic acidemia, but also with hypotonia and anorexia. They had delayed development, beginning to walk and talk at 18 to 24 months, and then slowly regressed. Although an investigation of central nervous system disorders in this latter group has not been possible, the clinical progression fits into the broad category of Leigh disease. We conclude that in these two groups respiratory chain defects can be detected and localized by the use of skin fibroblast cultures.
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PMID:Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease. 302 93

A male infant with typical clinical and biochemical findings of Zellweger syndrome, but in whom hepatic peroxisomes were detected by electron microscopy, had profound hypotonia, hepatomegaly, typical facial appearance including large fontanelle and frontal bossing, convulsions, panaminoaciduria, and hyperammonemia. He died of liver failure at age 5 months. There were increased levels of very long chain fatty acids and trihydroxycoprostanic acid in serum, and increased excretion of dicarboxylic acids and tyrosine metabolites in the urine. Levels of peroxisomal enzymes, acyl coenzyme A oxidase, bifunctional protein, 3-ketoacyl coenzyme A thiolase, and dihydroxyacetone phosphate acyltransferase in the liver tissue from the patient were all deficient, findings consistent with Zellweger syndrome. However, immunocytochemical study and electron microscopic examination of the liver at autopsy revealed that hepatic peroxisomes were present at a level similar to that in a control subject. These observations suggest further heterogeneity in Zellweger syndrome and a different pathogenesis in this variant case.
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PMID:Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder. 318 38

Ten patients with biotinidase deficiency were studied. Clinical findings at presentation varied with dermatological signs (dermatitis and alopecia), neurological abnormalities (fits, hypotonia, and ataxia), and recurrent infections being the most common features, although none of these occurred in every case. Biochemically the disease is characterised by metabolic acidosis and organic aciduria. Treatment with biotin results in pronounced, rapid, clinical and biochemical improvement, but some patients have residual neurological damage comprising neurosensory hearing loss, visual pathway defects, ataxia, and mental retardation. The cause of this permanent damage remains obscure and it is not clear if the early introduction of treatment will prevent it.
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PMID:Biotinidase deficiency: a survey of 10 cases. 319 50

The case of a newborn presenting from birth with arthrogryposis multiplex congenita resting mainly on the legs, severe hypotonia, consciousness anomalies, clonic fits, recurrent apnea and bradycardia, absent sucking and swallowing is described. At the age 4 months a further episode of apnea and bradycardia was followed by death. The neuropathologic analysis disclosed a number of bilateral, cystic and symmetric infarcts in the thalamus and hypothalamus, spreading caudally to the tegmentum of the mesencephalon and the pons. Such distribution of lesions does suggest a vascular topography, i.e. in the territories supplied by branches of the vertebro-basilar arteries. There was light clinical and neuropathological evidence of prenatal occurrence of the vascular injuries, possibly at the end of the 7th month by a defective arterial perfusion of the fetus due to protracted menaces of premature birth. We would outline the existence and frequency of the thalamic and dorsal brain stem necrotic involvement by acute anoxia-ischemia occurring in the third trimester of gestation or at birth, and the relative peculiarity of their clinical picture.
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PMID:[Vertebrobasilar insufficiency of prenatal origin: a case report]. 329 92

In the frog rectus abdominis and rat phrenic nerve-diaphragm preparations, piperazine citrate was shown to have some neuromuscular blocking activity. In the rat, d-tubocurarine was 500 times more potent than piperazine. This neuromuscular blocking effect of piperazine may be responsible for the hypotonia it sometimes induces in man. High doses of piperazine increased, in mice, the sleeping time due to pentobarbitone, but decreased the threshold for convulsion due to leptazol and strychnine, thus explaining piperazine-induced somnolence and worsening of epileptic attacks in man.
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PMID:Some effects of piperazine citrate on skeletal muscle and central nervous system. 344 36

An infant with neonatal adrenoleukodystrophy experienced extreme hypotonia and virtually continuous convulsions at four months of age and died. Light and electron microscopic examination revealed evidence of myopathy and the presence of mitochondrial inclusions. Concentrations of very long-chain fatty acids were elevated in blood and fibroblasts and the oxidation of 14C-labeled fatty acids was defective. Urinary pipecolic acid content was increased. Activity of the peroxisomal dihydroxyacetone phosphate acyltransferase, which catalyzes the first step in plasmalogen synthesis, was decreased.
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PMID:Myopathy in an infant with a fatal peroxisomal disorder. 350 88


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