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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 62 battered children with involvement of the central nervous system clinically 3 patterns of impact to the skull, brain and its coverings could be distinguished: In 22 babies (mean age 6 months) the brain was damaged mainly by violent shaking. Many of those infants were in shock and epileptic status on admission. Retinal, subarachnoidal, and later subdural bleedings were recognizable. At first, all patients survived, but later 3 of them died in a vegetative state. Retinal bleedings are prompted by subarachnoidal hemorrhage due to shearing of bridging veins and by compression of the chest which immediately is followed by raise of venous pressure in the upper half of the body and by arteriospasms, leading to endothelial damage and increase of vascular permeability (Purtscher's disease). Both mechanisms result in severe retinal hemorrhage which might intrude into the vitreous body (Terson-syndrome). The consequences of violent shaking for the child might be disastrous mental retardation, microcephaly, spasticity, and epilepsies. The child might turn blind on one or both eyes; the visual failure is due to retinal scar formation, retinal detachment and fibrous organisation within the vitreous body on the one hand, due to raised intracranial pressure on the other hand, adding further damage to the visual pathway. In 19 children whose mean age was 13 months massive impact on the skull resulted in major brain damage: acute subdural hematoma, contusional bleedings, compound, diastatic or impression fractures. Ten of them died immediately or were picked up dead from home by different emergency services.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Damage patterns in severe child abuse with and without fatal sequelae]. 374 20

Ten cases of Lesch-Nyhan syndrome have been followed for 3-19 years (mean, 11 years and four months). Criteria of Lesch-Nyhan syndrome were restricted to the following: complete absence of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in hemolysate and fibroblast, spasticity, choreoathetosis, mental retardation, self-mutilation, and occurrence in males. Two patients have died of pneumonia and two died suddenly. However, autopsies produced no positive findings. Hyperuricemia has been controlled by benzbromarone in nine patients. One patient did not take any medical treatment and died suddenly when he was 19 years old, but showed no gouty signs. Patients with Lesch-Nyhan syndrome indicated no change or aggravation of choreoathetosis or spasticity. Self-mutilation was difficult to control by any treatment with continuing effect. After the age of ten, self-mutilation declined in seven cases, and in one patient disappeared completely. Mental delay was remarkable and suspected developmental age (DA) was 7 months - four years and 10 months (chronological age, 7 years and five months - 19 years and 6 months). Mean DQ score was 15.6. Physical development was severely delayed, and weight age was 28.9-46.4%, mean 37.4% of chronological age. Future investigations will evolve clarification of CNS signs and its treatment, and etiological research of sudden death.
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PMID:Long-term follow-up of ten patients with Lesch-Nyhan syndrome. 376 72

Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo-palato-cerebral dwarfism syndrome.
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PMID:Oculo-palato-cerebral dwarfism: a new syndrome. 399 92

Three female infants with citrullinemia were followed clinically, biochemically and by electroencephalography. All three had episodes of vomiting, lethargy and hyperammonemia shortly after birth. The two more severe cases developed convulsions. They were saved by peritoneal dialysis, or repeated exchange transfusions followed by dietary adjustment. Multifocal spikes or repetitive paroxysmal activity of various kinds were seen in the EEGs at times of crisis. There was a lag in the EEG returning to normal after ammonia levels had returned to normal. Citrulline remained elevated in all cases. Follow-up over years revealed mild spasticity, mental retardation and, in one case, cortical atrophy.
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PMID:The EEGs of infants with citrullinemia. 399 77

Four infants with the 'shaken infant syndrome' are described. None had skull fractures and only one had a subdural hematoma. All had extensive retinal and pre-retinal hemorrhages. Follow-up computerized tomography showed severe brain atrophy, multiple hypodense areas and ventricular enlargement. Three of the patients suffered severe, permanent brain damage, with mental retardation, spasticity and blindness. It is suggested that the underlying pathogenesis of this syndrome is acutely increased intrathoracic pressure, transmitted into the head to cause multiple venous infarctions. Retinal and pre-retinal hemorrhages are cardinal features of this syndrome and their presence should raise the suspicion of this form of battering in the absence of the 'classical' signs of battering.
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PMID:Neurological manifestations in abused children who have been shaken. 401 25

We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X-linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.
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PMID:A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness. 653 52

The authors report a 1-year-old Japanese boy, who was noted to have unilateral alopecia and a cloudy cornea since birth. Additional features included mild spasticity and mental retardation, DQ being 70. A non-communicating cystic lesion was found in the right middle cerebral fossa by metrizamide CT scan, and resection of the lesion by craniotomy revealed an arachnoid cyst. The case was diagnosed as encephalocraniocutaneous lipomatosis, a recently described neurocutaneous syndrome.
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PMID:Encephalocraniocutaneous lipomatosis: a recently described neurocutaneous syndrome. 674 91

The clinical, radiological, and neuropathological findings in early onset Cockayne syndrome are illustrated in identical twins and their brother. Their appearance of dwarfism with small head and prominent beaked nose strongly resembled that seen in the Seckel syndrome, but unlike patients with that syndrome they had a normal birth weight (for twins), thick cranial vaults, intracranial calcification, and a severe degree of mental retardation. The twins were deaf and blind, with optic atrophy and retinal pigmentation, while their brother had cataracts. Their hands and feet were large in proportion to their small trunk. They had cutaneous sensitivity to any slight exposure to ultraviolet light and severe neurologic problems with incoordination and spasticity. Radiologic findings included microcephaly, a thick cranial vault, a small pelvis, coxa valga, and "ivory epiphyses" in terminal phalanges of hands and feet. Pathologic findings included atrophy of white matter with widespread patchy demyelination, and massive siderocalcific deposits in the brain, particularly in the basal ganglia and cerebellum. While autosomal recessive inheritance is most likely, formally X-linked inheritance cannot be excluded.
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PMID:Identical male twins and brother with Cockayne syndrome. 689 Mar 11

Lesch-Nyhan Syndrome (LNS) is a biochemical disorder characterized by a virtually complete deficiency of an enzyme of purine metabolism, hypoxanthineguanine phosphoribosyltransferase. This sex-linked recessive inborn error of metabolism is characterized clinically by: hyperuricaemia, excessive production of uric acid, certain characteristic neurological features including self-mutilation, choreoathetosis, spasticity and mental retardation. This paper will review the clinical, biochemical and genetic features of Lesch-Nyhan Syndrome and report a case in which repeated lip chewing resulted in destruction of the lower lip and the need for surgical intervention.
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PMID:Lesch-Nyhan syndrome: surgical treatment in a case with lip chewing. A case report. 693 76

An unselected series of 116 dyskinetic cerebral palsy cases born 1959-70 was delineated and subgrouped according to neurological criteria into 35 hyperkinetic (30%) and 81 dystonic (70%) cases. Of the hyperkinetics, 80% had a mild motor disability, while 90% of the dystonics had moderate or severe disability. Subordinated spastic signs were found in 9% of the hyperkinetic and in 44% of the dystonic cases. IQ was greater than 90 in 69% of the hyperkinetics and 25% of the dystonics and less than 50 in 11% and 41%, respectively. Two or more additional neurological abnormalities (spasticity, mental retardation, epilepsy, anarthria, dysarthria, hearing deficit) were detected in 46% hyperkinetic and 81% dystonic cases. A heavy multihandicap complex was present predominantly in the dystonic subgroup. The 5-19 year mortality rate was 6% and was confined to the most severely handicapped dystonic cases. The twin rate was 5%. A total of 9% had birth weights less than or equal to 1500 g, and 31% had less than or equal to 2500 g. The weight- and age-specific incidences increased rapidly with decreasing birth weights and gestational ages. The crude incidence of hyperkinetic cerebral palsy was 0.07 and dystonic cerebral palsy 0.17 per thousand live births.
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PMID:Dyskinetic cerebral palsy. I. Clinical categories, associated neurological abnormalities and incidences. 713 69


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