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)

Cardiac conduction abnormalities and hypertension developed in a patient who ingested approximately 500 mg of baclofen (Lioresal). The patient also exhibited the more common features of baclofen overdose including coma, respiratory depression, hypotonia, and hyporeflexia. A review of the literature and a discussion of the interesting manifestations and treatment of baclofen overdose are included.
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PMID:Baclofen overdose with cardiac conduction abnormalities: case report and review of the literature. 301 74

This study is the first attempt to characterize neurological and behavioural consequences of fluid-percussion concussive head injury in the cat. Both animals initially anaesthetized by N2O as well as unanaesthetized, chronically prepared animals were subjected to injury. Injury with a fluid-pressure wave of 1.9-2.5 atm (duration 21-24 ms) produced a brief generalized areflexia. Following this initial response, injury greater than 2.1 atm frequently produced a period associated with hypotonia of postural muscles and suppression of postural motor responses (flaccidity). A close association between flaccidity and other indices of coma such as absence of eye-opening responses was noted. These consequences of injury can occur without fatal apnoae, circulatory collapse or overt intraparenchymal haemorrhages. This result suggests that mechanical stress predominantly restricted to the brain stem in fluid percussion may be sufficient, at least in the cat, to produce coma associated with flaccidity which has been previously documented for acceleration concussion. There was no evidence that fluid percussion produced EEG depression similar to the effects of lesions in the mesencephalic reticular activating system (RAS). Thus, depression of general levels of brain activity including those within the RAS seems not be necessary for production of this form of reversible coma.
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PMID:Coma associated with flaccidity produced by fluid-percussion concussion in the cat. I: Is it due to depression of activity within the brainstem reticular formation? 316 67

Septo-optic dysplasia (De Morsier's syndrome) is a common cause of congenital optic nerve hypoplasia. Associated abnormalities such as hypothalamic/pituitary dysfunction, hypotonia or spasticity, may result in affected children presenting for surgical procedures under general anaesthesia. A 3.5-year-old boy with the undiagnosed condition had his Achilles tendons elongated under an uncomplicated general anaesthetic. The postoperative period was complicated by coma and a major convulsive seizure which responded to glucose and steroids. The importance of awareness of this condition in short children with poor visual acuity who require general anaesthesia is stressed, and the presenting features of seven other cases are demonstrated.
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PMID:Anaesthesia and septo-optic dysplasia. Implications of missed diagnosis in the peri-operative period. 343 62

Organic acidurias are congenital errors of the intermediate metabolism caused by a specific metabolic defect which gives rise to an anomalous excretion of carboxilic acids. The majority of these disease appear in the first weeks of life with few specific symptoms as hypotonia, lethargy, coma, seizures, vomits and dehydration. From biochemical point of view the findings of metabolic acidosis, ketosis, and hyperamoniemia are common. Frequently clinical symptoms are precipitated by infectious disease, traumatism or stress situations. The treatment applied in the initial phases may be efficient; for this reason diagnostic and early treatment are necessary for avoid irreversible sequelae. The diagnosis is also important for posterior genetic counseling. Organic acidurias are an interesting field of work for the pediatrician, neuropediatrician, biochemist and dietician to offer new perspectives in the diagnosis and treatment of many congenital errors of the metabolism.
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PMID:[Organic aciduria. Forms of presentation and treatment]. 372 91

A lethal carbamylphosphate synthetase (CPS: EC 6.3.4.16) deficiency (McKusick 23730) was found in a newborn girl; who presented on the second day of life with acute hyperammonaemia, hypotonia, seizures and who died in a coma 6 days after birth. The activity of the mitochondrial urea cycle enzymes, CPS and ornithine transcarbamylase (OTC: EC 2.1.3.3) were measured on a needle biopsy sample taken from liver and showed that CPS was 1.4% of the normal mean (0.09 nmol/min/mg protein) whereas OTC activity was normal (110 nmol/min/mg protein). Immunological analysis of the liver sample showed no detectable immunoreactive CPS and confirmed the presence of normal levels of OTC. RNA was extracted from postmortem liver and in vitro translation experiments showed that there was no translatable CPS mRNA and confirmed that no CPS protein was synthesized in this child. The absence of translatable mRNA is explicable in terms of a genetic defect which results in a failure to synthesize mRNA for CPS, or synthesis of a defective form of mRNA which is not translated.
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PMID:A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatable mRNA. 643 91

A symptomatic elevation in plasma ammonium concentration, termed hyperammonemia, is associated with numerous congenital and acquired conditions (Table 11). In some cases, such as urea cycle disorders, ammonia is the principal toxin. In other instances, such as portal systemic encephalopathy, it is but one of a number of metabolic disturbances, However, in either case hyperammonemic episodes should be treated aggressively to prevent coma, subsequent brain damage, or death. This involves restricting protein intake, providing adequate calories, and giving agents that remove accumulated nitrogen. Long-term therapy relies on diagnosing the specific disease rate. This rarely requires invasive procedures such as liver biopsy. In most cases measurement of plasma amino acids and urinary organic acids will identify the defect. Treatment involving restriction of nitrogen intake, vitamin supplementation, or stimulation of alternative pathways of waste nitrogen excretion can then be instituted. Early therapy, especially in patients with neonatal-onset hyperammonemia, is imperative to avoid severe brain damage. On this basis, the plasma ammonium level should be determined in virtually every newborn with lethargy, hypotonia, poor feeding, seizures, and/or respiratory distress of unclear origin (Table 12).
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PMID:Hyperammonemia. 651 17

The purpose of this work was to review the literature about the newborn neurological pathology and to compare it with our results starting from the observation of 650 children who born at the Clinical Hospital of Porto Alegre from September 1979 to June 1980. Out of these, 100 presented with neonatal neurological pathology. These newborn were studied as to the age of the mother at the birth time, Apgar rate, weight and cephalic perimeter at the birth time, probable etiologies, and clinical picture and evolution. These newborn were compared to control groups and the results were discussed on the grounds of literature. Out of 100 newborn with neurological pathology, 65% presented with pathological neurological examination and 35% with normal neurological examination. The 65 newborn with pathological neurological examination had hypotonia, decreased deep tendon reflexes, decreased or absence of superficial reflexes in 40 cases. Hyperactivity, hypertonia and tremors were observed in 25 cases. Coma was present in 6 of these newborn with apathy and hypotonia. Seizures were present in 41 cases. EEG was performed in 29 of these 41 cases in the first five days of life. The EEG was normal in 15 (51.7%) newborn and it was pathologic in 14 (48.3%) newborn. The 100 newborn had the following diagnosis: 37 birth anoxia, 13 hemorrhages, 24 meningitis, 14 metabolic seizures, 4 sepsis, 1 kernicterus, 2 chromosomopathies, 3 malformation, 1 cerebral palsy, and 1 congenital rubeola. Out of the 37 newborn with birth anoxia, 20 (54.1%) had a good evolution, 7 (18.9%) had sequela and 10 (27.0%) died. Out of 13 newborn with hemorrhages 2 (15.4%) had a good evolution, 5 (38.5%) had sequela, and 6 (46.1%) died. Out of 24 newborn with meningitis, 18 (75.0%) had a good evolution, 5 (20.8%) had sequela, and 1 (4.2%) died. Out of 58 newborn with a good evolution, 30 had normal newborn neurological exam, and 28 had transient alterations. Out of 23 newborn who presented with sequela later on, only 5 had normal newborn neurological exam. All the 19 who died, had pathological newborn neurological exam.
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PMID:[Neurological pathology in the newborn infant]. 653 54

Shortly after birth, a newborn girl developed anorexia, hypotonia, apneic attacks and seizures. After 61 h the child died in coma. Biochemically, a highly elevated blood ammonia level was found together with an increased plasma level of the amino acids mainly involved in ammonia detoxication. Enzyme studies in post-mortem liver tissue material revealed a deficiency of carbamoyl-phosphate synthetase (0.9% of the mean value in controls) in combination with an intermediate activity of L-ornithine: 2-oxoglutarate aminotransferase (40% of the mean value in controls).
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PMID:A lethal neonatal variant of carbamoyl-phosphate synthetase deficiency in combination with an intermediate activity of L-ornithine: 2-oxoglutarate amino-transferase. 685 Dec 28

The authors describe the clinical manifestations in 200 cases of cerebellar vascular lesions confirmed on autopsy. The clinical symptoms and signs included very little typical cerebellar signs, the most frequently observed changes were: gradually increasing coma, muscular hypotonia, sluggish reflexes, ocular signs. The diagnosis was made even more difficult by the presence of additional pyramidal signs. The causes of diagnostic errors emphasized by the authors are: 1) an erroneous conviction of doctors that vascular cerebellar lesions must be associated with cerebellar signs, 2) difficulty in carrying out whole neurological examination since gait and posture cannot be observed in these bedridden patients, 3) frequently cerebellar focal lesions are associated with focal lesions in other brain structures (brainstem and cerebral hemispheres) with consequent superimposition of various symptom complexes, 4) presence of profound coma which not infrequently blurs many signs. Nevertheless, the authors could have established the clinical diagnosis of vascular cerebellar lesions in one-third of these cases.
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PMID:[Diagnostic difficulties in cases of vasogenic lesions in the cerebellum]. 715 84

Five patients were examined suffering from bilateral paramedian thalamic infarction, caused by occlusion of the posterior paramedian thalamo-subthalamic arteries, when they begin from one single pedicle. All cases began with obnubilation or transitory coma, followed by hypersomnia. Four patients showed vertical gaze paralysis, and the fifth vertical nystagmus. In three cases, nuclear lesion of the III cranial nerve was observed along with alteration of the photomotor reflexes, and there was miosis in one case. All were suffering from weakness in one or another limb or facial paresis and generalised acute hypotonia: only one patient had hemihypostesia. All five had dysarthria, ataxy and dysmetria, one had asterixis and two spasmodic crying. Between 5 and 12 months later, one had akinetic mutism and vertical gaze paralysis as the most noteworthy signs. The neuroradiological images show a bilateral ischemic lesion in the paramedian thalamic region, which extends in some cases to the anterior nucleus and in one case to the pulvinars; the lesion continues through the subthalamic regions and the medial part of the mesencephalic tegmentum, with a clear extension to the medial region of the cerebral peduncles in three cases and to the tectum in one case.
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PMID:[Paramedian bithalamic infarct syndrome: report of five new cases]. 749 75


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