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At least 343 records · Page 19Linked to original sources
PubMed1979

[Clinical and biological forms of cytochrome b5 reductase deficiency].

Twenty-four personal cases of recessive congenital methemoglobinemia (RCM) due to cytochrome b5 reductase deficiency are analysed. They can be divided into two categories: 1) RCM type I, in which cyanosis is the single clinical symptom; 2) RCM type II in which cyanosis is associated with severe mental retardation and bilateral athetosis. The enzyme deficiency is restricted to the red cell soluble cytochrome b5 reductase in RCM type I, whereas in the type II form the enzyme defect is generalized to all tissues, involving both the soluble and the microsomal forms of cytochrome b5 reductase. Different mutations occurring at the same locus might account for this heterogeneity. However the mechanism of brain damage in case of generalized deficiency of cytochrome b5 reductase is still unknown.

Brain Diseases↗
PubMedDate not supplied

[Differential diagnosis of intracranial calcifications].

INTRODUCTION: Intracranial calcifications are a frequent chance finding in many neuroimaging tests. We report two clinical cases with intracranial calcifications as a common feature, but which had very different aetiologies and presenting symptoms. CASE REPORTS: The first case involved a 51-year-old male with a single tonic-clonic convulsive seizure associated to hypocalcemia secondary to hypoparathyroidism who presented extensive brain calcifications affecting the dentate nuclei, pons, periependymal and basal ganglia, and whose convulsive attacks remitted once normal Ca2+ values were restored. The second case was a 25-year-old female patient whose convulsive seizures were yet another symptom of Fahr's syndrome, which was associated to spastic paralysis, athetosis, mental retardation and occasionally hypoplasia of the optic nerve; the calcifications were located in the grey nuclei of the cerebrum and cerebellum. CONCLUSIONS: A correct history and physical and neurological examination must be carried out, and a detailed study of Ca2+/ P+ and hormonal metabolism is also required. A CAT scan is the preferred neuroimaging technique to achieve a proper differential diagnosis and to decide on the therapeutic approach that is best suited to the pathophysiological mechanisms that lead to the formation of these calcium deposits.

Adult↗
PubMed2001

[Analysis of the parkin gene deletion mutations in Chinese patients with Parkinson's disease].

OBJECTIVE: Clarify parkin gene deletion mutations at exons 3 to 7 in Chinese patients with Parkinson's disease (PD) and analyze them together with the clinical features of PD. METHODS: DNA was extracted from peripheral blood of 33 sporadic PD patients and 6 familial PD patients. Deletion mutations of parkin gene were identified by PCR amplification and agarose gel electrophoresis. The clinical data were analyzed together with the above information. RESULTS: Of the 33 sporadic PD patients, 1 had exons 5 and 7 deletion, 2 had exon 7 deletion. The age of onset was 46, 48, 50 respectively. In the 6 familial PD patients, 1 had exon 5 deletion. The inheritance pattern in this patient was autosomal recessive and onset of the patient was 60. All of the patients who had parkin gene deletion mutations had tremor, rigidity and bradykinesia, but athetosis was not found. In addition, deletion mutations of parkin gene at exons 3, 4 and 6, were not found. CONCLUSION: There are deletion mutations of parkin gene at exons 5 and 7 in Chinese PD patients.

Adolescent↗
PubMed1991

Progressive supranuclear palsy. Report of 14 cases with special reference to unusual features.

The clinical features and course of 14 patients with progressive supranuclear palsy (PSP) were analysed. PSP formed 2.3 percent of the parkinsonian population. Blepharospasm, hypersomnia, athetosis, action dystonia, action myoclonus and family history of dementia were the unusual features. Half of the patients had dementia at presentation. Drug therapy was uniformly disappointing. The mean duration from onset to death in 4 patients who died was 4.5 years. The histopathological features in a patient with the disease for one year and who died of acute myocardial infarction showed moderately severe changes characteristic of the disease.

Brain↗
PubMed1991

[Symptomatology of the involuntary movement].

Actual phenomena of various types of involuntary movements listed below were demonstrated by moving pictures, which were followed by comments on symptomatology, in particular the fundamental characteristics of an individual involuntary movement. These characteristics are the essence of each involuntary movement, and it is necessary to recognize both its phenomenon itself and its accumulated knowledge in order to realize and interpret the involuntary movement. The following involuntary movements are treated: (1) typical tremor-at-rest in paralysis agitans, (2) atypical parkinsonian tremor, (3) essential tremor, (4) chorea, (5) ballism, (6) athetosis, (7) choreoathetosis, (8) dystonia, (9) spontaneous myoclonus at rest, (10) intention or action myoclonus, (11) intention tremor and (12) hyperkinesis.

Humans↗
PubMed1990

Clinical features of bilirubin encephalopathy.

Clinical features of bilirubin encephalopathy vary depending on the age of the infant and the degree of hyperbilirubinemia. In term infants with hyperbilirubinemia, three distinct clinical phases are apparent in the first weeks of life, and long-term consequences include extrapyramidal disturbances (particularly athetosis), hearing loss, gaze abnormalities (particularly limitation of upward gaze), and, in a minority, intellectual deficits. In term infants with moderate hyperbilirubinemia, minor delay in motor development during the first year has been demonstrated, but with longer follow-up this delay is not apparent. Associated conditions such as sepsis, anoxia, and acidosis may increase the likelihood of neurotoxicity of bilirubin in these infants. The clinical consequences of moderate hyperbilirubinemia in premature infants are unclear. No acute clinical syndrome is recognizable during the first weeks. The results of follow-up studies are variable. Hearing loss is the commonest consequence. Follow-up through age 2 years in one large study suggests that static encephalopathy may be a sequel. Longer follow-up is needed to understand the clinical consequences of moderate hyperbilirubinemia in this important group of infants.

Humans↗
PubMed1990

[A clinical study of death in profound mental retardation with motor disturbance].

Among 848 cases of profound mental retardation with motor disturbance admitted to Metropolitan Medical Center of Severely Handicapped in the last 20 years, 98 died. The 94 cases whose cause of death was determined were clinically investigated. There was no difference in sex, and 72% of the patients died before the age of 15 years. Half of the patients died of pneumonia; sudden death occurred in 9, and ileus in 8. These three were thought to be the most important and characteristic causes of death in severely handicapped patients. In recent years, deaths due to pneumonia have decreased and those due to ileus have disappeared, but deaths due to malignant neoplasm have begun to be recognized. There were also some deaths from intracranial hemorrhage in young children, and some deaths from tracheal bleeding in those who had tracheal tubes. These two were also important causes of death in the patients. Sudden death had certain characteristics: most cases were adolescent or young patients with mixed quadriplegia who were sensitive to environmental changes and often showed marked hypertonia by athetosis, and in addition, all of their acute changes occurred between 5 and 8 a.m. or between 6 and 9 p.m.

Adolescent↗
PubMed1989

[Bilirubin encephalopathy].

The author describes symptoms typical for children with bilirubin encephalopathy (the hyperkinetic patterns of infantile cerebral paralysis, audition deficiency, mental deficiency). During follow up studies (from 1 month or 1-5 years and up to 10-25 years) of children with bilirubin encephalopathy uncomplicated by prolonged asphyxia and derangement of cerebral circulation, the majority of them demonstrated the evolutional time-course of changes in motor disorders (from rigidity to athetosis and then to ataxia). Variants of neurosensory hypoacusis and peculiarities of secondary retardation of the mental development determined by audition and speech distress in children trained at the boarding++ schools are described. Preventive and treatment measures for these abnormalities are provided.

Adult↗
PubMed1988

[The different present-day clinical picture of human African trypanosomiasis caused by T. b. gambiense. Analysis of 300 cases from a focus in Daloa, Ivory Coast].

300 patients with sleeping sickness have been admitted, at the AHT clinic of Daloa, over a time period of 22 months. The sex ratio of the patients is 1.5 males for 1 female; the mean age is 25.5 years. The most frequent signs and symptoms observed by clinical examination are: fever (30%), nodes (86.3%), prurigo (43.3%), splenomegaly (15.3%), hepatomegaly (1%), headache (72.6%), vigilance and sleeping disturbances (68.7%), perioral reflexes (67.6%), cheiro-oral reflexes (64.3%), movement disorders consisting of tremor, choreo-athetosis movements, buccal dyskinesia or seizures (35%), motor palsy and gait disorders (15%), tonus disturbances (12.3%), sensitivity abnormalities (17%), endocrine disorders (16.3%), psychiatric symptoms (6.3%). According to CSF status, 261 patients have been classified in second period (P2). This group, although biologically well defined, is in fact a miscellaneous group of clinical signs and symptoms ranging from apparently normal patients to sleeping comatose and cachectic patients. 93% of the patients in this group have peripheral signs associated with neurological symptoms. They are as frequent in the first period as in the second period, with a statistical significance. This is an argument to think that the CNS is early affected in the course of the disease. The classification of the patients in groups of increasing neurological impairments, is in accordance with this hypothesis. 89% of the patients in the second period have only slight neurological signs. This explain how difficult it is for a physician to use melarsoprol in the treatment of all patients classified in second period.

Adolescent↗
PubMed1985

Five-year follow-up study of tardive dyskinesia.

A 5-year follow-up investigation of TD was carried out in 85 Hungarian schizophrenic out-patients. No substantial changes occurred during the 5 years in pharmacotherapy: most patients continued on neuroleptics and antiparkinson drugs. Comparison of 1978 and 1983 ratings revealed increased dyskinesia scores, which was statistically significant on the DRS Choreo-athetosis cluster. There was an increase in the number of patients with "moderately" severe TD from 4 in 1978 to 6 in 1981 to 10 (9 "Moderate" and 1 "Severe" TD) in 1983. The total number of TD cases as defined by research diagnostic criteria increased by only 3. The long-term trend in these neuroleptic-treated schizophrenics is for dyskinesia to plateau after reaching mild intensity, while in a minority of cases, the dyskinesia tends to extend from the oro-facial region to other body regions.

Antipsychotic Agents↗
PubMed1979

[Pathogenesis of hyperkinesis in children].

Pheylalanine metabolism was studied in 56 children with various forms of hyperkinesias. It was found that in the development of slow and fast hyperkinesias a certain role belongs to dihydroxyphenylalanine (DOPA). It is probable, that in patients with Turett's syndrome the synthesis of DOPA is increased while in patients the excretion of phenylacetylglutamine was found to be disturbed: it was decreased in the patients with the fast and increased in the children with the slow hyperkinesias. Phenylalanine load led to a lowering of the DOPA level in the patients with Turett's syndrome; an intensification of the synthesis of phenylacetylglutamine and diminution of the intensity of hyperkinesias. L-glutamine load resulted in detoxication of the toxic phenylalanine metabolites which inhibited the DOPA synthesis, as well as in a short-time increase in the phenylacetylglutamine excretion and a moderation of tonic hyperkinesias that manifested by athetosis and dystonia. All this points out that in the development of various forms of hyperkinesias a certain role belongs to amino acid metabolites.

Adolescent↗
PubMed1987

[Value of bifocal stereotaxic destruction in case of dyskinesia in patients with a motor deficit of cerebral origin].

Authors report a study concerning 12 dyskinetic patients with cerebral palsy. The clinical pre-operative examination shows that many signs and symptoms are associated: volitional and postural dyskinesia, athetosis and dystonia, pyramidal deficit and spasticity. Talairach's stereotactic methodology has been used for bifocal (VPL thalamic nucleus and internal pallidum) Yttrium 90 implantation. After stereotactic bifocal lesions, involuntary movements have been reduced in 45.5% of cases and have disappeared in 27% of cases. Impairment of previous motor deficit has been observed in 3% of cases; volitional and postural dyskinesia seems to be the most curable symptomatology. Clinical results in athetoid involuntary movements and dystonia are less rewarding. Because of important anatomical modifications often observed cerebral palsy patients, the authors stress the interest of individual acute neurophysiological study and discuss about the stereotactic targets and the modalities of destruction. They insist upon the necessity of rigorous selection of indications based on acute clinical examination in the perspective of improvement of global functional capacities.

Adolescent↗
PubMed1978

Possible involvement of central pacemakers in clinical disorders of movement.

This review considers the evidence for possible involvement of central nervous system pacemaker neurons in several clinical disorders of movement. Two basic types of tremor are discussed from this point of view, i.e., 4--7/sec parkinsonian tremor, of possible thalamocortical origin, and 7--11/sec essential tremor of possible olivo-cerebellar origin. The importance of motor programs and abnormalities in their utilization are considered with reference to the loss of motor function in parkinsonism (? loss of motor programs), and the inappropriate release of such programs as a possible basis for the involuntary movements seen in other movement disorders, such as chorea, athetosis, dystonia, and hemiballismus. The possible role of pacemaker neurons controlling such programs is considered. Finally, the subject of locomotion and the pacemaker model of the spinal locomotor pattern generator for stepping are considered in relation to clinical disorders of gait. While critical evidence is lacking for pacemaker inovlvement in any of these disorders, their possible role is emphasized.

Feedback↗
PubMed1979

Intramuscular neurolysis for spasticity in children.

Intramuscular neutrolysis with phenol has been used for 10 years in the management of spasticity in children. Best results depend on fastidious technique and realistic use of the procedure. Sedation or anesthesia was used in all cases -- 5% phenol in water was used for all procedures. The main indications were spasticity which interfered with function, either actual or potential, or with care. Where uninhibited vestibular or tonic neck reflexes affect muscle tone, or there is dystonia or athetosis, the procedure is less effective than where spasticity alone is present. Duration of relief of spasticity ranged from 1 month to more than 2 years. About one half of the lower extremity muscle treated required tenotomy later. Generally training was required after the procedure to obtain improved function. A representative sample of muscles treated, repeat procedures, and later surgery is discussed. The procedure is recommended for use in the management of spasticity in children as a way of improving function and/or care.

Adolescent↗
PubMed1979

[Loss of hearing in cerebral palsy (author's transl)].

The hearing threshold level was examined in 75 cerebral palsied children (3--15 yrs.). In the case of 5 patients, we were unable to get an audiogram. 50 children had a normal audiogram on both ears. 13 patients had a bilateral, one a unilateral sensoneural loss of hearing. The rate of conductive loss of hearing was unexpectedly high: 4 patients with a bilateral pure conductive loss of hearing, 3 with a bilateral sensoneural loss of hearing and a bilateral additional airborne gap, and 2 with a monaural conductive loss of hearing. The treatment of the conductive deficiency is of primary importance in cases of a super-imposed senso-neural loss of hearing losses. 7 of our patients have been fitted with a hearing aid. The threshold of the stapedius reflex could be estimated in the case of 10 patients suffering from a sensoneural loss of hearing. All had a reduced dynamic range. Reduction of the dynamic range is not a specific trait of cerebral palsy as our cerebral palsied children with normal hearing had a normal dynamic range. No correlation could be found between asphyxia, underweight and hyperbilirubinaemia as single factors in the newborn period and sensoneural loss of hearing nor between athetosis and sensoneural loss of hearing.

Adolescent↗
PubMed1969

Current concepts of hyperuricemia and gout.

Recent studies have confirmed that gout is an inborn error of metabolism. It has now become evident that the hyperuricemia associated with gout might occur either due to overproduction of uric acid, underexcretion of uric acid or a combination of these processes. Furthermore, patients with excessive purine synthesis may have a specific enzyme defect resulting in altered feedback inhibition of purine synthesis. A neurological disease manifest by mental retardation, choreo-athetosis, aggressive behavior, lip-biting and self-mutilation and associated with decidedly increased purine biosynthesis serves as a prototype of this kind of disorder. Other defects in regulation of purine biosynthesis have been postulated but their existence not yet confirmed. It has been demonstrated that urate crystals which are deposited from hyperuricemic body fluids set up an acute inflammatory reaction by means of a variety of chemical mediators. Thus, acute gouty arthritis is now recognized as an example of "crystal induced" synovitis. The treatment of gout consists of (1) the control of acute gouty attacks, and (2) the maintenance of normal serum uric acid concentrations. This latter may be achieved either with uricosuric drugs or with xanthine oxidase inhibition. With these principles in mind, it is now possible to avoid many of the severe crippling effects of gout and to restore the vast majority of gouty patients to useful and productive lives.

Chemical Phenomena↗
PubMedDate not supplied

Current concepts of surgical management of deformities of the lower extremities in cerebral palsy.

In cerebral palsy, principles involved in proper selection of orthopedic management of the lower limbs include diagnosis, timing, goals, degree of involvement, linkage, kinetic electromyography, retention of neonatal automatisms, and dynamic versus fixed deformity, as well as the physical plant and professional skills. Specific lower extremity problems in the hip, knee, ankle, and foot must be analyzed and management for each should be approached on a rational basis. Unsolved enigmatic problems of etiology, pathways of neonatal automatisms that impose abnormal posturing, neurophysiologic mechanisms of spasticity, athetosis, rigidity and ataxia, pathogenesis of contracture, linkage biomechanics, and the neurologic, including the biomechanical effects of surgical intervention, require special research programs.

Ankle Joint↗
PubMed1978

Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands.

Our objective has been to trace Joseph's disease to its geographic origins and to determine the spectrum of clinical manifestations. This goal we have achieved by documenting type I and II disease within the Joseph and Sousa families. The major neuropathologic findings are a progressive neuronal loss involving the striatum, nigra, dentate nucleus of the cerebellum, and lower motor neurons in the brainstem and spinal cord. The homozygote form of the disease produces type I disease with onset in early childhood of progressive dystonia, athetosis, and spasticity. Type I disease tends to have its onset by age 25 years in heterozygotes and lasts about 15 years on the average. Type II disease, which we consider the result of a single dose of the mutant gene, usually begins somewhat later and runs its course over a 20-year period. Type III disease documented in the Thomas family is the most benign. Its onset is often in the fifth decade, and it progresses slowly into the eighth decade. Patients may benefit from antiparkinson medication including dihydroxyphenylalanine and anticholinergic agents (e.g., amantadine). A molecular marker for the disease is being sought actively, and several interesting patterns have already been documented by means of patient fibroblast cultures and two-dimensional acrylamide gel protein separations. The mutant gene is clearly outside the HLA complex but may be linked to it. The only biochemical change noted thus far is a reduced CSF level of HVA that probably reflects the loss of dopamine-synthesizing neurons in the substantia nigra and is thus a secondary effect of disease. Although the disease is a very old one which we can trace back to the early 19th century on the island of Flores, it may be recurring de novo by new gene mutations at an unstable gene locus in a genetically vulnerable population. Now that the spectrum of clinical expression has been identified and the mode of inheritance established as an autosomal dominant wherever the disease has been found, it is believed that its true incidence will become more evident by virtue of better detection and that the true incidence will actually increase because of increased assimilation of affected persons into other ethnic groups.

Adolescent↗