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)

The article describes pregnancies and labors of five women with myotonic muscular dystrophy and their four severely involved infants, and reviews the pertinent literature. Three of the four neonatal cases died by 3 weeks of age of respiratory failure or aspiration; the fourth infant is now 4 months old and has respiratory and swallowing difficulties. The symptoms of myotonic dystrophy worsen during pregnancy. A high rate of fetal loss occurs due to spontaneous abortion, prematurity, and neonatal involvement with the disease. Prolonged labor has been described as a consistent complication, but the evidence does not justify this conclusion. Although many neonates with myotonic dystrophy are asymptomatic, severely affected newborns have a recognizable disorder unrelated to the severity of the maternal disease. The most common clinical manifestations in the neonate are arthrogryposis involving predominantly the lower extremilies, generalized hypotonia and weakness, and pharyngeal weakness. Less constant features include polyhydramnios, facial diplegia, diaphragmatic paralysis, respiratory failure, decreased motility of the gastrointestinal tract, congenital cataracts, and electrocardiographic abnormalities.
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PMID:Clinical effects of myotonic dystrophy on pregnancy and the neonate. 77 28

Benign enlargement of the subarachnoid spaces was diagnosed in 41 infants on the basis of ultrasound and/or CT scan findings. 10 MHz transfontanellar ultrasonography is without doubt the most reliable investigation in this condition (skull-to-cortex distance greater than 5 mm). Patients with extracerebral collections due to a clearly identifiable pathologic process (e.g., prematurity, IUGR, neonatal distress, malnutrition) were excluded from the study. Macrocrania developed rapidly in 72% of patients, either as the single manifestation (30%) or with delayed motor development and hypotonia (30%). Other clinical patterns included evidence of intracranial hypertension (15%) and hypotonia without macrocrania (20%). The two main findings of this study were the high rate of familial forms and the severity of early hemorrhagic complications, i.e., spontaneous subdural hematoma (5/41 cases), with permanent neurologic impairment in some instances (2/5 cases). These complications call into question the benignity of this syndrome whose long-term outcome, particularly in terms of cognitive function, is as yet unknown.
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PMID:[Idiopathic pericerebral swelling (external hydrocephalus) of infants]. 146 2

A pediatric neurologist analyzed the case histories of 30 4-16 year old children diagnosed with cerebellar ataxia in the pediatric neurology unit at the Royal Hospital for Sick Children in Edinburgh, Scotland to examine its clinical features, investigative findings, and etiology. Previous unfavorable events happened to 14 children (46.6%). Yet only 6 (42.8%) of these 14 children had unfavorable events of etiological significance. These previous unfavorable events occurred during the perinatal period (48%). These events in order of significance were asphyxia, prematurity, neonatal jaundice, and trauma. 66.6% of all children had an unsteady gait. The 2nd and 3rd most common signs of cerebellar ataxia were truncal ataxia (53.3%) and hypotonia (36.6%). The next most common symptom was considerable delay in reaching gross motor milestones (50%) such as not sitting until 2 years old. 23 (76.6%) of the children had dysfunctions in 1 of the cerebellar divisions. Clinical examination found dysfunctions most often in the paleocerebellum (86.6) followed by the neocerebellum (70%) and archicerebellum (56.6%). The paleocerebellum and the archicerebellum were the only divisions involved in 6 and 1 of the remaining children, respectively. The most common cause of ataxia was hydrocephalus (23.3%) followed by perinatal problems (20%). 70% of the patients also experienced other central nervous system conditions such as macrocephaly and mental retardation. 5 children had normal investigative findings, 3 of whom had cerebellar ataxia syndrome, 1 had congenital ataxic cerebral palsy, and 1 had familiar ataxia.
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PMID:Cerebellar ataxia in childhood: a review of clinical features, investigative findings and aetiology in 30 cases. 150 89

Neuromuscular disorder can cause neonatal respiratory insufficiency. One male term newborn with Werdnig-Hoffmann disease and two preterm infants with congenital myotonic dystrophy Curshmann-Steinert-Batten are reported. Hydramnion, few spontaneous movements, prematurity, increasing respiratory insufficiency, hypotonia and myopathic facies of the mother are typical for congenital myotonic dystrophy.
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PMID:[Neuromuscular diseases as a cause of neonatal respiratory insufficiency]. 196 Dec 9

Thirty-four women with multiple pregnancies (three or more fetuses) underwent embryonic reduction in order to reduce abortions, premature births or fetal growth-retardation by obtention of twins. Four early abortions occurred. Thirty pregnancies reached term and out of 60 fetuses, 58 infants were born alive. Fetal death in utero of one twin occurred in two pregnancies. The mean term until delivery was 36 +/- 2.8 weeks gestation and the prematurity rate was 51.7%. Of 55 neonates, 25 were underweight within the 10th percentile and 10 out of 55 neonates were underweight below the 3rd percentile. There were three deaths in the early neonatal period. The rate of perinatal mortality was 8.3%. Fifty-four children are currently healthy and one child has a mild axial hypotonia. A reduction in prematurity was observed with a gain of 2 weeks on reported data concerning triplet pregnancies. The rate of low-birth-weight infants was high, 63.5% being underweight at birth.
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PMID:Obstetrical results after embryonic reductions performed on 34 multiple pregnancies. 208 95

From June. 1987 to Dec. 1988, data was collected from 12 cases with Congenital Brain Anomalies. The cases involved 7 girls and 5 boys with ages ranging from 2 days to 15 years old. Abnormalities diagnosed were Cavum-septi pellucidi; Cavum vergae; Cystic dilated cavum; Cavum veli interpositi; Lissencephaly with dysgenesis of the corpus callosum; Dysgenesis of the corpus callosum associated the midline dorsal cyst; Holoprosencephaly, alobar type; Schizencephaly associated with Hydranencephaly; Encephaloclastic porencephaly; Severe hydrocephalus; Variant type of Dandy-Walker cyst with dysgenesis of the corpus callosum; Arnold-Chiari malformation. The patients were initially seen OPD primarily for seizures and other complaints such as nystagmus with visual impairment, hypotonia, facial anomalies, Yolk-sac tumor, prematurity, dyspnea and hydrocephalus. Among these, Holoprosencephaly was easiest to diagnose because it was combined with facial anomalies. However the others required evaluation by CT. CT offers very efficient diagnostic modality which is better than a Cranial Echo. It is also safer than the invasive angiography and not as expensive as MRI.
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PMID:[Congenital anomalies of the brain in computed tomography]. 276 27

Fifteen premature infants with severe chronic lung disease of prematurity were treated with ventilatory assistance and continuous positive airway pressure for at least 28 days. Fourteen developed progressive central nervous system deterioration following right heart failure and pulmonary hypertension. Two patterns of deterioration were observed: (1) cerebral, with loss of developmental milestones, increasing a hypotonia, and eventual EEG deterioration and death; and (2) brainstem, with progressive apnea, bradycardia, or both, and sudden death or irreversible apnea.
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PMID:Progressive central nervous system deterioration: a complication of advanced chronic lung disease of prematurity. 699 61

To evaluate the topographical neurological distribution, patterns of abnormal tone and related functional neuromotor impairment after grade 3 and grade 4 intraventricular/periventricular haemorrhage (IPVH), 33 children with previous grade 3 or 4 IPVH of mean gestational age 30.9 weeks (range 25-40 weeks) and mean birth weight 1743 g (range 866-3600 g) were examined neurologically at 4.7 years (range 0.75-10.8 years). Neurological signs were absent in 10/33 cases which were equally distributed between the grade 3 and grade 4 IPVH groups. The largest single topographical neurological distribution was hemiparesis in 8/23, followed jointly by diplegia (cerebral paraplegia) in 6/23 and triplegia in 6/23 cases and finally quadriplegia in 3/23 cases. Grade 4 IPVH tended to result in asymmetrical syndromes, accounting for 7/8 cases of hemiparesis and 5/6 cases of triplegia, whereas all 3/3 cases of quadriplegia followed grade 3 IPVH. The 6/23 cases of diplegia were shared between the grade 3 and grade 4 IPVH groups. Tone was normal in 7/8 of the hemiparetic subjects. Dystonia was the commonest tone abnormality, affecting 8/23 children with neurological disturbance, followed by ataxia/hypotonia in 4/23 and mixed dystonia/hypotonia in 3/23. Only 1/23 cases had signs of spasticity. Spasticity is rare following severe IPVH. Diplegic children had a better functional neuromotor grade than hemiparetic children, who in turn did better than triplegic children. Ataxia hypotonia resulted in better functional outcome than dystronia, which in turn was more favourable than mixed tone patterns. Cranial imaging by ultrasound (US) or computed tomographic (CT) scanning proved an unreliable prognostic indicator except in the case of hemiparesis, for which US scans correctly predicted the affected side in 5/7 cases. The neurological syndromes following severe IPVH differ from the classical encephalopathy of prematurity, and this should lead to a re-appraisal of the trends in the prevalence of cerebral palsy. Caution should be exercised in the interpretation of cranial imaging with regard to pessimistic prognoses in the presence of changes or undue optimism in their absence.
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PMID:Heterogeneity of neurological syndromes in survivors of grade 3 and 4 periventricular haemorrhage. 840 2

To assess the clinical impact of microcephaly among children with developmental disabilities, we reviewed the charts of 1393 consecutive patients from birth to 5 years of age referred to our child development center. Comparisons were made between normal and low IQ microcephalic patients and between children with cerebral palsy with and without small head circumference. Microcephaly was detected in 15.4% of patients. Although mental retardation was more common among microcephalic children (P < .001), almost half had normal intelligence. Prematurity (P < .001), perinatal asphyxia (P < .001), small for gestational age (P < .001), respiratory distress syndrome (P < .001), and brain hemorrhage (P < .001) were associated with microcephaly. Hypotonia (P < .001) and spasticity (P < .001) were the most common neurologic findings. Cerebral palsy (P < .001), growth retardation (P < .001), epilepsy (P < .001), and strabismus (P < .001) were the main associated diagnoses found. Mental retardation was significantly more common among microcephalic patients with cerebral palsy than among normocephalic ones (P < .0004). Microcephaly is common among children evaluated for developmental disabilities. Many of these patients have normal or borderline IQ. Of several perinatal conditions associated with later microcephaly, respiratory distress syndrome and intraventricular hemorrhage show the strongest correlation. Mental retardation is not a risk factor for other neurologic complications in microcephalic children. However, in children with cerebral palsy, microcephaly is a risk factor for mental retardation.
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PMID:Significance of microcephaly among children with developmental disabilities. 1195 71

Succinic semialdehyde dehydrogenase deficiency is one of the disorders of GABA metabolism, so it is not surprising that seizures occur as one of the symptoms in affected patients. Other features that are described include delayed development, hypotonia, myopathy with ragged red fibres, abnormal behaviour, and ocular abnormalities. Neonatal problems include prematurity, respiratory difficulties, and hypoglycaemia. The responsible gene has been identified on the short arm of chromosome 6. There are many mutations, and there is poor genotype-phenotype correlation resulting in difficulties in diagnosis. The pathogenesis of the condition is discussed, especially the results of the disturbed GABA catabolism, and the production of the gamma-hydroxybutyric acid. The many properties of this substance suggest it may act as a neurotransmitter or neuromodulator in the brain. The diagnosis may be difficult as the clinical picture is not really suggestive, but the MRI examination can help if it shows abnormalities in the globus pallidus. It will be confirmed by finding an excess of 4-hydroxybutyric acid in the body fluids; and the methods of estimation are discussed. Prenatal diagnosis is possible using a combination of methods. Treatment possibilities are limited. Vigabatrin should be of value as it is an inhibitor of GABA transaminase, but results have been disappointing. Symptomatic treatment may well be needed for control of seizures, abnormal behaviour and other disorders; and special educational needs must be served.
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PMID:Succinic semialdehyde dehydrogenase deficiency (SSADH) (4-hydroxybutyric aciduria, gamma-hydroxybutyric aciduria). 1534 10


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