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)

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.
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PMID:The FG syndrome: further characterization, report of a third family, and of a sporadic case. 56 38

Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome No. 22. The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post-natal growth retardation, mental retardation with further severe deterioration at 3-5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low-set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
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PMID:Complete trisomy 22. 56 44

4 cases of nonketotic hyperglycinemia (glycine encephalopathy), one with autopsy, are presented and the literature on 61 cases is reviewed. Major clinical signs include early hypotonia, lethargy and erratic and massive myoclonias with respiratory distrubances, starting during the first days of life after a symptom-free interval. Early death is common. Survivors are severely retarded and exhibit various types of seizures including infantile spasms. The EEG pattern consists initially of periodical paroxysmal bursts on an almost flat tracing, evolving later into a hypsarrhythmic pattern. Spongiosis of the myelinated pathways is the main pathological finding. Elevated CSF glycine seems to be the essential determinant of the neurological disturbances and it is, therefore, suggested that the term glycine encephalopathy be used instead of non-ketotic hyperglycinemia. A classification of disorders associated with hyperglycinemia is proposed.
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PMID:Glycine encephalopathy. 58 64

Posterior fossa subdural hematomas in the newborn infant are rare but potentially treatable. The infants are normal after birth, but within days, hydrocephalus hypotonia, and irregular respirations develop. Seizures and third nerve pareses are unusual. We report a neonate in whom this process was identified by computerized tomographic brain scan. We also discuss potential misinterpretations of the computerized tomographic brain scan in neonates.
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PMID:Posterior fossa subdural hematomas in neonates. 62 28

Hyperthermia has been shown to be a teratogenic agent in a number of animal species. We have attempted to determine if maternal hyperthermia during early gestation might also be responsible for problems in human development. Eight retrospectively ascertained cases, in which high fever had occurred at four to six weeks' gestation, revealed a similar clinical phenotype in the infants despite the fact that the maternal fever was caused by different infections. The most consistent manifestations were severe mental deficiency, seizures, hypotonia, microphthalmia, midface hypoplasia, and mild impairment of distal limb development. In five patients exposed to hyperthermia at seven to 16 weeks' gestation, predominant features were hypotonia, neurogenic arthrogryposis, and central nervous system dysgenesis. The cause of fever differed in each of these cases; in one, a patient with neurogenic arthrogryposis, the hyperthermia had been induced in a sauna bath. No apparent serious problem in morphogenesis was found following hyperthermia during the latter half of gestation. These findings are similar to those resulting from induced hyperthermia in animals. Further research on the effects of hyperthermia in the developing human being seems warranted.
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PMID:Hyperthermia as a possible teratogenic agent. 66 Mar 52

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.
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PMID:Partial trisomy-5p. 68 89

Clonazepam or 5-(2-chlorphenyl)-1, 3-dihydro-7-nitro-2H-1,4benzodiazepin-2-one, is a close structural and pharmacological relative of nitrazepam. It has a broad spectrum of activity against the various types of epilepsy, and is effective in many patients whose condition has proved resistant to other antiepileptic drugs. Its chief uses are in status epilepticus, in which intravenous clonazepam may replace diazepam as the drug of first choice, and in the minor motor seizures of childhood, particularly petit mal absences, the Lennox-Gastaut syndrome and infantile spasms. Clonazepam is also at least as effective as current treatment in psychomotor and myoclonic epilepsies, but seems unlikely to replace phenytoin and the barbiturates in the treatment of grand mal or focal motor seizures except in patients resistant to standard therapy. Initial success with clonazepam can be followed by loss of effect, but benefit can often be restored, at least initially, by temporary interruption and re-institution of treatment. Side-effects are common with clonazepam. Most patients experience drowsiness and fatigue, which are frequent causes of withdrawal, together with lesser incidences of ataxia, dystonia, hypotonia, and hyperactivity. These effects usually disappear with continued therapy, and are minimised by gradual introduction of the drug over 2-4 weeks. Hypersalivation and excessive bronchial secretion may be a problem in children and infants.
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PMID:Clonazepam: a review of its pharmacological properties and therapeutic efficacy in epilepsy. 97 34

Twenty-one neonates of over 36 weeks' gestation suffered perinatal asphyxia but not chronic hypoxia. Three clinical stages of postanoxic encephalopathy were distinguished. Stage 1 lasted less than 24 hours and was characterized by hyperalertness, uninhibited Moro and stretch reflexes, sympathetic effects, and a normal electroencephalogram. Stage 2 was marked by obtundation, hypotonia, strong distal flexion, and multifocal seizures. The EEG showed a periodic pattern sometimes preceded by continuous delta activity. Infants in stage 3 were stuporous, flaccid, and brain stem and autonomic functions were suppressed. The EEG was isopotential or had infrequent periodic discharges. Infants who did not enter stage 3 and who had signs of stage 2 for less than five days appeared normal in later infancy. Persistence of stage 2 for more than seven days or failure of the EEG to revert to normal was associated with later neurologic impairment or death.
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PMID:Neonatal encephalopathy following fetal distress. A clinical and electroencephalographic study. 98 69

A clinico-pathological report is given on 4 cases of agyria (premature neonate to age 13 months), 3 cases of pachygyria (aged 2,5 to 4,3 years) and a boy aged 4,5 years with temporal pachygyria and frontal microgyrias. Clinical features, more pronounced in agyria than in pachygyria, were microcephaly, frequent facial anomalies, neonatal feeding difficulties, hypotonia with subsequent seizures, hypsarrhythmic EEG pattern in 3 children, arrest of psychomotor development and signs of decerebration. One case of agyria occurred with familial faciorenal dysplasia, two were associated with congenital heart disease, and the fourth with chromosomal abnormality. Morphologically, the colpocephalic brain showed a four-layered agyric pallium with radially aligned cell columns and periventricular heterotopias, lacking differentiation of the claustra, olivary heterotopias and cerebellar dysgenesias in the 4 younger infants. In the agyric neonate additional agenesis of corpus callosum was present. Pachygyric brains showed a six-layered cortex, periventricular heterotopias, lacking differentiation of the claustra, but no cerebello-olivary anomalies. Cytoarchitectonic analysis of the agyric cortex suggests a disorder of neuronal migration during stage III of neocortex formation (Rakic and Sidman) between the 11th and 13th fetal week, while the pachygyric cortex showing the later formed layers II and IV presumable is caused by an attenuated and later disorder acting in early stage IV of neocortex formation, i. e. around or after the 13th fetal week. Additional insula-claustrum dysplasia, olivary and cerebellar anomalies are due to concomittent migration disorders between the 11th and 14th week. Along this period there is a gradient from agyric to normal six-layered cortex, whereas microgyria presumably results from an event occurring after migration has terminated (after the 16th fetal week). Etiological factors of agyria-pachygyria may be both hereditary (familial lissencephaly-syndrome) and environmental ones (prenatal drug application or intrauterine perfusion disorders).
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PMID:Agyria-pachygyria (lissencephaly syndrome). 98 18

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low-set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.
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PMID:Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies. 99 39


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