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

We report clinical, cytogenetic, and molecular studies in 65 patients with isolated lissencephaly sequence (ILS). All had type I lissencephaly of varying severity and a grossly normal cerebellum. Some had additional brain abnormalities. Facial appearance was essentially normal. All had severe to profound mental retardation, seizures, hypotonia that evolved into spasticity, and feeding difficulties. Clinical and laboratory studies demonstrated etiologic heterogeneity. Molecular studies detected microdeletions in chromosome band 17p13.3 in six of 44 patients tested, confirming that deletion of all or part of this "critical region" is the cause of ILS in some cases. There were slightly larger deletions in the same region in a majority of patients with Miller-Dieker syndrome. One patient had an apparently balanced, de novo reciprocal translocation with breakpoints at Xq22 and 2p25. Four sibs from two families had a new, autosomal recessive syndrome of ILS with neonatal death. Other causes supported by clinical observations include autosomal recessive inheritance, intrauterine infection, and intrauterine perfusion failure. Those ILS probands in whom no etiology could be established had 41 sibs of whom three were affected, giving an empiric recurrence risk of 7%.
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PMID:Causal heterogeneity in isolated lissencephaly. 162 Mar 49

The youngest patient with eosinophilic meningoencephalitis to be reported from Australia, an 11-month-old girl, is presented here. The diagnosis of angiostrongyliasis was based on the exclusion of other possibilities, the strongly-positive results of serological examination and the findings of an environmental survey. Clinical signs of serious brain damage, with persistent blindness, profound mental retardation, spasticity and epilepsy more than three years later, indicate that this infection is not always as benign as is considered generally.
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PMID:Eosinophilic meningoencephalitis with permanent sequelae. 362 48

Electromyographic biofeedback training was used to facilitate finger and wrist extension movements in a mentally retarded individual with spastic hemiplegia. The client was a 29-year-old woman with profound mental retardation and cerebral palsy as a result of postnatal meningitis. During treatment, the client demonstrated a short attention span, lack of motivation, low frustration tolerance, and increased spasticity in her left hand. The client was able to hyperextend her fingers following finger extension training, although goniometric measurements showed a marked degree of wrist flexion and wrist ulnar deviation. Therefore, training was implemented to develop wrist extension movements. Biofeedback therapy resulted in a substantial increase in active wrist extension and a marked reduction in wrist ulnar deviation.
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PMID:EMG biofeedback training for a mentally retarded individual with cerebral palsy. 728 26

Normal development of the CNS requires adequate thyroid hormone exposure. Since iodine is an essential component of the thyroid hormone molecule, its deficiency during fetal development can cause hypothyroidism and irreversible mental retardation. The full-blown syndrome, called cretinism, includes deaf-mutism, short stature, spasticity, and profound mental retardation. The clinical spectrum can vary in degree and combination of these features. Screening programs in iodine-deficient countries show that up to 10% of neonates have elevated serum TSH levels, putting them at theoretical risk for permanent brain damage. About one billion people worldwide risk the consequences of iodine deficiency, all of which can be prevented by adequate maternal and infant iodine nutrition. Iodized salt is usually the preferred prophylactic vehicle, but iodized vegetable oil, iodized water, and iodine tablets are also occasionally used. The United Nations and the heads of state of most countries have pledged the virtual elimination of iodine deficiency by the year 2000. This goal is technically feasible if pursued with sufficient vigor and resources.
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PMID:Iodine supplementation and the prevention of cretinism. 849 59

We describe an infant who was born to a consanguineous couple of Palestinian origin. The patient had severe microcephaly, myoclonic seizures, hypsarrythmia, spasticity, hypertonicity, and profound mental retardation. A similar case was reported in another unrelated Palestinian family, suggesting that this condition may be endemic. The condition resembles early onset myoclonic seizures and spasticity described by Tolmie et al.: Am J Med Genet 27:583-594 [1987]. To the best of our knowledge, only four pairs of sibs have been described with this syndrome; however, to date no magnetic resonance imaging (MRI) findings were reported for this condition. We present the clinical and radiological findings in the patients, including the first report of MRI findings.
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PMID:Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings. 980 30

A patient with severe pyruvate carboxylase deficiency presented at age 11 weeks with metabolic decompensation after routine immunization. She was comatose, had severe lactic acidemia (22 mM) and ketosis, low aspartate and glutamate, elevated citrulline and proline, and mild hyperammonemia. Head magnetic resonance imaging showed subdural hematomas and mild generalized brain atrophy. Biotin-unresponsive pyruvate carboxylase deficiency was diagnosed. To provide oxaloacetate, she was treated with high-dose citrate (7.5 mol/kg(-1)/day(-1)), aspartate (10 mmol/kg(-1)/day(-1)), and continuous drip feeding. Lactate and ketones diminished dramatically, and plasma amino acids normalized, except for arginine, which required supplementation. In the cerebrospinal fluid (CSF), glutamine remained low and lysine elevated, showing the treatment had not normalized brain chemistry. Metabolic decompensations, triggered by infections or fasting, diminished after the first year. They were characterized by severe lactic and ketoacidosis, hypernatremia, and a tendency to hypoglycemia. At age 3(1/2) years she has profound mental retardation, spasticity, and grand mal and myoclonic seizures only partially controlled by anticonvulsants. The new treatment regimen has helped maintain metabolic control, but the neurological outcome is still poor.
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PMID:Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. 1058 40

Angelman syndrome (AS) is a distinct neurogenetic disorder and the phenotype is well known in childhood and adolescence. However, with advancing age the clinical and behavioral phenotype changes. In adulthood, the phenotype can be rather aspecific. We report on AS in 3 severely to profoundly mentally retarded patients, who developed severe neurologic complications of severe tremor, spasticity and coordination problems, resulting into severe loss of function. They presented atypical craniofacial features, short stature, epileptic seizures, microcephaly, brachytelephalangy and absent speech. Two patients presented at an older age a change in day-night rhythm. Based on this experience, we conclude that all severely to profoundly mentally retarded patients with atypical phenotype, spasticity, absent speech, epileptic seizures and changed day-night rhythm are candidates for further cytogenetic and molecular investigation for AS. Clinical photographs of the patient at a younger age can be helpful. The presence of the typical EEG pattern with frontal triphasic delta waves may direct to the diagnosis of AS.
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PMID:Angelman syndrome in three adult patients with atypical presentation and severe neurological complications. 1114 Apr 14

Direct measurement of energy expended by spasticity in children with severe spastic quadriparesis is difficult. Insertion of an intrathecal baclofen pump in a 13-year-old boy with severe spasticity and profound mental retardation resulted in an estimated 30 to 40% decrease in his spasticity. As he had been on a carefully calculated ketogenic diet and fed by gastrostomy, his precise caloric intake was known. Decrease in spasticity, on the same caloric intake, led to marked weight gain. Reduction of 100 calories intake resulted in new weight stability. It was possible therefore, to estimate indirectly energy used by his spasticity. This 100 calories, representing 34% of calories above his resting energy requirement, corresponded to an independently estimated 30 to 40% of caloric expenditure of his spasticity. It was concluded that when calculation of calories is critical, energy utilization by spasticity must be taken into consideration.
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PMID:Energy requirements of spasticity. 1199 99

Alexander disease is a rare, degenerative disorder of the central nervous system. It is characterized clinically by spasticity, seizures, dementia, loss of developmental milestones, and macrocephaly. Here we describe a 13-year-old boy with Alexander disease and severe scoliosis. The patient initially presented at 9 months of age, with profound mental retardation and a history of seizures. When he was 7 years old, a pediatrician had diagnosed Alexander disease (hypotonia, macrocephaly, and progressive low-density white matter predominantly in the frontal region on computed tomography examination). From the age of 10, thoracolumbar scoliosis had gradually become severe. Because treatment using a corrective brace would have produced major problems because of the patient's mental retardation, the scoliosis was successfully treated surgically, by careful posterior spinal fusion with instrumentation, and an autologous iliac crest bone graft. A 64 degrees curve was corrected to 18 degrees (72% correction). Scoliosis with Alexander disease is considered to be very rare because patients with the disease seldom survive long enough to develop spinal deformities.
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PMID:Scoliosis in a patient with Alexander disease. 1213 31

One woman with profound mental retardation and spasticity living in a public residential developmental center was treated with intrathecal baclofen therapy and botulinum toxin type A injections. After one year of regular injections, extension across the right elbow increased 49 degrees. After one year of ITB, range of motion for left hip abduction increased 28 degrees; right hip abduction 9 degrees; left hip flexion 3 degrees; right hip flexion 1 degree; right knee flexion 31 degrees. Our case demonstrates the importance of a multidisciplinary approach in order to ease care and prevent complications. Expanded investigations should be carried out to evaluate the efficacy of combined therapy in patients with mental retardation.
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PMID:Combined treatment with BTX-A and ITB for spasticity: case report. 1796 16


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