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)

Two full-term neonates, one with convulsions and intermittent generalized hypotonia and one with poor sucking, temperature instability, and lethargy, are reported. CT scan findings suggested cerebral arterial infarction. Arteriography revealed occlusion of the middle cerebral artery, unilaterally in the first and bilaterally in the second patient. The evolution of the infarct could be followed on serial CT scans. No predisposing factors during pregnancy or delivery were found, and serious neurologic deficits developed in both children. These cases demonstrate that, even in full-term neonates with discrete or moderate neurologic symptoms and born after normal pregnancy and delivery, the possibility of vasoocclusive brain infarction should be considered. The diagnosis is suggested by imaging techniques, of which CT scanning seems to have the greatest value at present. This technique also permits the follow-up of the lesions. The prognosis for neurologic development appears to be variable: minor neurologic deficits as well as unexplained spastic hemiplegia in older children may be the consequence of inapparent cerebral arterial infarction in the neonatal period.
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PMID:Idiopathic cerebral arterial infarction with paucity of symptoms in the full-term neonate. 362 89

A 4-year-old boy with a history of muscular hypotonia, mental retardation, microcephaly, and generalized convulsions was found at autopsy to have agyria, agenesis of the anterior commissure and posterior corpus callosum as well as an abnormal decussation of pyramidal tracts which descended in the spinal dorsal columns. Postmortem muscular alterations included type IIc fiber hypertrophy and type I fiber grouping, variably expressed in individual muscles and intramuscular fascicles. This may represent a developmental delay compatible with a gestational age between the 34th and 40th week. These studies also indicate the importance of examining multiple samples of postmortem muscles and muscles from patients afflicted with cerebral malformations.
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PMID:Muscular alteration in agyria with pyramidal tract anomaly. 382 54

Post-vaccination symptoms in 6,004 infants given adsorbed Diphtheria Tetanus and Pertussis (DTP) vaccine and 4,024 infants given adsorbed Diphtheria and Tetanus (DT) vaccine have been compared. Although crying, screaming and fever were slightly more frequent after adsorbed DTP than adsorbed DT, attacks of high-pitched screaming, episodes of pallor and hypotonia, convulsions, other neurological disorders and sudden infant death occurred with similar frequency in the two groups. No specific neurological effect attributable to the pertussis component was found.
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PMID:Post-vaccination symptoms following DTP and DT vaccination. 387 85

GM1 Gangliosidosis is an autosomal recessive genetic disorder due to deficiency of the lysosome enzyme beta-galactosidase, with consequent tissue accumulation of glycolipids, oligosaccharides, and especially GM1 ganglioside. In the present paper we report the clinical and laboratory findings obtained for eight families starting from eight index cases exhibiting the childhood form of the disease. The total number of cases in these families may be as high as 14, thus causing GM1 gangliosidosis to be the inborn metabolic error most frequently diagnosed in our service. Hypotonia, neuromotor retardation, hepatosplenomegaly, macrocephaly, and hydrocele are some of the most frequent clinical findings. The disease evolves towards convulsions and bronchopneumonia, leading to patient death generally during the first half of the second year of life. The presence of vacuolated lymphocytes, alterations of the lumbar vertebrae, and cherry spots on the retina were observed in almost all patients. When tested for inborn metabolic errors, all patients gave normal results, a fact that may have confused and delayed diagnosis. Diagnosis was made by urine oligosaccharide chromatography and confirmed by beta-galactoside measurement in peripheral blood leukocytes. This method proved to be accurate also for the detection of heterozygotes, which permitted post-mortem diagnosis in two families. The authors speculate that increased fetal loss and tendency towards macrosomy may be possible characteristics of the disease, suggest that testing for vacuolated lymphocytes be used as a screening method, and propose that urine oligosaccharide chromatography be included in the routine screening for inborn metabolic errors.
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PMID:GM1 gangliosidosis: clinical and laboratory findings in eight families. 392 30

A case of pyridoxine-dependent seizures is reported. Administration of pyridoxine to an infant after a long period of convulsions was followed by acute hypotonia. Other cases have been reported in the literature, in one of which assisted ventilation was required. A possible mechanism for this alarming outcome is discussed, and it is suggested that resuscitation facilities should be quickly available during such trials.
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PMID:Pyridoxine for neonatal seizures: an unexpected danger. 401 33

The anaesthetic management of four paediatric patients with the Prader-Willi syndrome is reported. The syndrome is characterized by obesity, mental retardation, genital hypoplasia, hypotonia, and diabetes mellitus. All patients were anaesthetized with halothane. Succinylcholine or pancuronium were used for muscle relaxation, without evidence of abnormal response. Common anaesthetic difficulties in this syndrome are obesity, hypotonia, disturbance in thermoregulation, arrhythmias, diabetes mellitus and convulsions.
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PMID:Anaesthetic considerations in the Prader-Willi syndrome: report of four cases. 613 37

Pipecolic acid (PA) is an intermediate of lysine metabolism in the mammalian brain. Recent findings suggest a functional connection of PA as neuromodulator in GABAergic transmission. Since many drugs are postulated to produce their effects by interaction with the central GABA system, the influence of PA on the anticonvulsant activity of phenobarbital was examined. Pretreatment of mice with 50 mg . kg-1 of PA potentiated the suppressing effects of the barbiturate on electrically and chemically induced convulsions. However, there was no potentiation of the behavioral effects and hypothermia induced by phenobarbital. PA itself had no or only little effect on the convulsions, motor function and rectal temperature when given in i.p. doses up to 500 mg . kg-1. Intraventricular administration of 500 microgram of PA also did not suppress either type of convulsion, although it produced ptosis, hypotonia, sedation and hypothermia. The results are discussed in relation to GABA system.
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PMID:Potentiation of phenobarbital-induced anticonvulsant activity by pipecolic acid. 628 9

Two Dutch siblings are described suffering from muscular weakness, hypotonia, severe joint contractures, mental retardation and epileptic fits. E.M.G. showed a characteristic myopathic pattern. Muscle biopsy revealed changes consistent with congenital muscular dystrophy. On CT marked hypodensities of the cerebral white matter were noticed. These findings are consistent with congenital muscular dystrophy of the Fukuyama type, a peculiar form of congenital muscular dystrophy, extremely rare outside Japan.
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PMID:Two Dutch siblings with congenital muscular dystrophy (Fukuyama type). 631 92

Two autopsy cases of congenital muscular dystrophy of Fukuyama type (F-CMD) were described. The first case was diagnosed clinically and pathologically as its typical case. Neither his family history nor the history of his prenatal period were contributory. He had suffered from muscle weakness and atrophy since his birth. Serum CPK was markedly elevated. EMG and muscle biopsy proved dystrophic changes of the skeletal muscles. In addition, he manifested mental retardation and attacks of convulsion. EEG failed to elicit remarkable changes, but PEG represented ventricular dilatation. He died of respiratory insufficiency at age 12. His postmortem examination showed variegated anomalies in the nervous system. Extensive micropolygyria was present in the cerebrum and cerebellum accompanied by adhesions between the bilateral cerebral hemispheres. Assymmetry of the longitudinal fibers was pointed out in the pontine base. Anterior horn cells were atrophic and moderately depopulated. On the other hand, the second patient was an atypical F-CMD case in symptoms, signs and pathology. His grand-mothers on both father's and mother's sides wee first cousins. His three siblings showed no similar disorders. His mother developed slight gestational toxicosis in the sixth and seventh months of pregnancy. His muscle weakness, contracture of the bilateral hip-joints and clubfoot had been observed since his birth. Physical and neurological examinations at age 6 showed deformity of the skull, myopathic face, macroglossia, high-arched palate, pigeon chest, scoliosis of the thoracic spine. In addition, generalized muscular atrophy, hypotonia and areflexia were recognized. Pseudohypertrophy of the muscles was absent. Sensation was intact to all modalities. Serum CPK and LDH were moderately increased.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2 autopsy cases of congenital muscular dystrophy of Fukuyama type--a typical and an atypical cases]. 652 23

A 2 1/2 year old mentally retarded Dutch boy, suffering from epilepsy, hydrocefalus, generalised hypotonia, degenerative signs of the eyes and teeth and characteristic pigment disturbances of the skin is described. The complete picture fits in the syndrome of Ito's hypomelanosis, also called incontinentia pigmenti achromians. This is a neurocutaneous syndrome or an ectodermal dysplasia.
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PMID:[A patient with Ito's hypomelanosis, also called incontinentia pigmenti achromians]. 668 62


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