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At least 1,207 records · Page 67Linked to original sources
PubMed1995

Fryns syndrome: neurologic findings in a survivor.

Fryns syndrome, a multiple congenital anomaly syndrome associated with diaphragmatic defects, craniofacial dysmorphism, distal digital hypoplasia, and neurologic abnormalities, was first described in 1979. This autosomal recessive disorder is usually associated with stillbirth or death immediately after birth. Detailed neurologic findings in the third survivor beyond the neonatal period are reported, and neurologic abnormalities in other cases are reviewed. Initially, hypotonia, areflexia, and weakness were seen. Myoclonus developed immediately after birth and was well controlled with high-dose valproate. Electroencephalography revealed slowing and irregular paroxysmal discharges with spikes and sharp waves that disappeared with time and treatment. Magnetic resonance imaging demonstrated partial agenesis of the corpus callosum, a Dandy-Walker malformation, and progressive cerebral and brainstem atrophy. This syndrome should be considered in patients with unusual facial features and digital abnormalities associated with frequent early myoclonus.

Abnormalities, Multiple↗
PubMed1984

Abnormalities of colonic function in patients with rectal prolapse and faecal incontinence.

We have investigated changes in colonic motility and anorectal function in 6 continent patients with a rectal prolapse; in 10 incontinent patients with rectal prolapse and in 16 patients with idiopathic faecal incontinence compared with 26 age and sex match controls. A history of incontinence, irrespective of a prolapse, was associated with significantly lower anal squeeze pressures (P less than 0.05), a deficient anorectal angle (P less than 0.05), failure to retain a balloon containing more than 250 cm3 of air in the rectum (P less than 0.01) and increased sigmoid motility (P less than 0.02) compared with controls. By contrast patients with rectal prolapse and no incontinence had normal anal pressures, a normal anorectal angle and normal sigmoid motility, but transit was delayed. These results indicate that abnormal sigmoid motility is commonly associated with faecal incontinence and that slow transit constipation is frequent in patients with rectal prolapse who are continent.

Adult↗
PubMed1976

Cystometric, sphincter and electromyelographic abnormalities in Parkinson's disease.

Bladder function was studied in 24 patients with a diagnosis of parkinsonism using cystometry, sphincter electromyography, flowmetry and electromyelography. A high incidence of disturbances in detrusor function and sphincter control was documented and the signal tracing studies showed prolonged conduction times, giving evidence of peripheral neuropathy. The abnormalities of detrusor function were ascribed to the lesion of the basal ganglia, whereas the sphincter disturbances indicate impairment of the corticospinal tract as a result of Parkinson's disease.

Adult↗
PubMed1984

Early physiotherapy in the treatment of spastic diplegia.

This study reports the effect of early physiotherapy, using Vojta's method, on children with spastic diplegia. Eight children with spastic diplegia (in spite of early treatment which was started before nine months of age) were compared with 21 children with spastic diplegia in which treatment was started between nine months and three years of age. The average age of starting to walk was eight months earlier in the group treated early, although they had more severe complications. They tended to walk steadily with a gait pattern which was quite different from the classical pattern. All of the early treated patients had confirmed organic brain damage with abnormal CT scan or microcephaly. In conclusion, Vojta's method of treatment is one system which improves the prognosis for walking if performed early.

Age Factors↗
PubMed1979

Acute hemiparesis in juvenile insulin-dependent diabetes mellitus (JIDDM).

Four episodes of acute left hemiparesis occurred in three pediatric-age, insulin-dependent diabetic patients. Each had a concomitant respiratory tract infection and headache, but no obvious signs of systemic hypoglycemia. No cerebral abnormalities were demonstrated by angiography or computerized tomography. The clinical course was benign, with slow but complete resolution of neurologic abnormalities within 8 to 24 hours of onset, and no further neurologic complaints in a 7- to 16-month follow-up.

Acute Disease↗
PubMed1985

[Changes in lipid metabolism in patients with dyscirculatory encephalopathy].

The characteristics of lipid metabolism investigated in 114 patients with dyscirculatory encephalopathy of the atherosclerotic genesis were collated with the clinical manifestations of the disease and the results of patients' psychological testing. Ten neurological syndromes and symptoms occurring most frequently in dyscirculatory encephalopathy were specified. The data of the psychological testing also changed with the severity of the disease. The most commonly identified abnormalities included dyslipoproteinemia, types II b and IV of hyperlipoproteinemias according to Frederickson as well as hypertriglyceridemia and an increase in the atherogenic coefficient.

Adult↗
PubMed1995

Central motor conduction in motor neuron disease.

Central motor conduction time (CMCT) to abductor digiti minimi (ADM) and tibialis anterior (TA) was measured in 21 patients of motor neuron disease (MND). In the upper limb, the motor pathways were inexcitable in 13 and central motor conduction time (CMCT-ADM) was prolonged in 7 sides. In the lower limbs the motor pathways were inexcitable in 10 and CMCT-TA was prolonged in 14 sides. The CMCT abnormalities did not follow a constant pattern but were randomly distributed and were asymmetric in the upper limbs in 7 and lower limbs in 3 patients. Asymmetric and randomly focal abnormalities in central motor conduction in our patients are consistent with asymmetric and focal neuronopathy in MND.

Amyotrophic Lateral Sclerosis↗
PubMedDate not supplied

[Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family].

The major form of familial hyperekplexia, a rare autosomal dominant disorder, is characterized by an abnormal startle reaction elicited by auditory and somatosensory stimuli, with transitory stiffness during the neontam period, followed later by falling attacks accompanied by momentary generalized muscular stiffness. Affected neonates occasionally have fatal hypertonia. The minor form is characterized only by an inconstant excessive startle response. We encountered a family in which three females presented with a partial or complete major form of the disease. All our patients were hyperreflexic, insecure gait was present in two subjects, without concomitant spontaneous nocturnal myoclonus. The pathophysiological basis of the hyperekplexia remains unclear. The abnormal startle reflex, probably related to the lack of inhibition by higher centers, is relayed in the caudal brainstem (ponto-medullary reticular formation), where bulbospinal motor efferents originate. Moreover, nonspecific changes such as large somatosensory evoked potentials and long-loop reflexes ("C-responses") may indicate increased cortical neuronal excitability. Polygraphic studies in these patients were normal. The locus of the major form of the disorder is located on chromosome 5q33-q35. Sequence analysis of the alpha 1 subunit of the inhibitory glycine receptor (GLRA1) revealed a mutation at the same codon 271 in several families (G1192A and G1192T). We analyzed this gene and found a G1192A mutation changing an ARG to a LEU codon in all three presented patients. Sporadic cases may represent new mutations or lack of penetrance in some family members. Only one of our three patients needed clonazepam. The diagnosis of this disorder rules out epilepsy, or psychogenic pathological startle reaction. Electrophysiological criteria are useful, however perinatal hypertonia or a tonic generalized spasm accompanied with falls following an abnormal startle reaction and genetic studies remain the diagnostic milestones of familial hyperekplexia.

Adolescent↗
PubMed1978

Precocious aging and dementia in patients with Down's syndrome.

Fifty unselected institutionalized patients with Down's syndrome were studied to determine the clinical course of precocious aging and mental and neurological deterioration. In our studies we establish statistically significant differences in neurological and psychiatric abnormalities and mental deterioration in patients below and above age 35, indicating progressive changes in the central nervous system. We demonstrate higher incidence of recent memory loss, impairment of short-term visual retention, frontal release signs, hypertonia, hyperreflexia, long-tract signs, and psychiatric problems. We also note the presence of external features of precocious aging. Down's syndrome appears to be a human chromosomal abnormality in which genetically determined biochemical defects leading to precocious aging and dementia can be studied.

Adolescent↗
PubMed1979

Dysautonomia in mitral valve prolapse.

Many of the clinical features of patients with mitral valve prolapse can logically be attributed to abnormal autonomic neural function. Accordingly, we have studied heart rate and blood pressure response to a standardized Valsalva maneuver and postural test in 44 untreated patients with demonstrated mitral valve prolapse. Fifteen healthy subjects of similar age served as controls. The directional changes of blood pressure and heart rate were similar in control subjects and patients in both tests, but patients differed from control subjects by their widely oscillating heart rate during the upright posture, and their exaggerated and prolonged bradycardia during the recovery phase of the Valsalva maneuver and following their return to recumbency in the postural test. This bradycardia persisted for 30 to 90 seconds after blood pressure returned to control values. Patients also showed a greater respiratory variation of R-R interval, which became especially marked during the adjustment to changes of posture. We postulate an abnormal central modulation of baroreflexes as the best explanation for the dysautonomic responses of symptomatic patients with prolapsed mitral valves.

Adolescent↗
PubMed1977

Peripheral nerve conduction in Miller Fisher syndrome.

Two cases of acute ophthalmoplegia, ataxia, and arreflexia with high CSF protein are reported (Miller Fisher syndrome). Detailed EMG and nerve conduction studies showed abnormal conduction in peripheral sensory fibres from the initial stages of the illness in both patients. Careful review up to 10 months after the onset was required to document the sensory conduction abnormality properly in one of them. The electrical findings did not differ from those that can be seen in the Guillain-Barré syndrome and provided no clues as to the mechanism of the ataxia.

Acute Disease↗
PubMed1992

Paradoxical sphincter reaction and associated colorectal disorders.

Of 71 patients with paradoxical sphincter reaction, 54 had symptoms of constipation or outlet obstruction and 17 were incontinent. The patients were investigated with defecography, colon transit time, anorectal manometry and electromyography. Ninety-six percent of the patients had additional changes in anorectal anatomy and physiology; 70% of the patients had abnormal defecography and 42% had delayed colon transit time. Decreased maximal anal pressure (MAP) and maximal squeeze pressure (MSP), indicating impaired function of the anal sphincters might be one reason for incontinence in patients with paradoxical sphincter reaction. The paradoxical reaction occurred in the puborectalis muscle and in three tested sites in the external sphincter. It is sufficient to record the EMG activity in one muscle and at one point to diagnose a paradoxical sphincter reaction. The absence of a normal closing reflex on electromyography is evidence for a paradoxical sphincter reaction. Denervation was more pronounced in the external sphincter than in the puborectalis muscle. The right pudendal nerve was subjected to damage more often than the left nerve.

Adolescent↗
PubMed1986

Abnormal eye-head coordination in Parkinson's disease patients after administration of levodopa: a possible substrate of levodopa-induced dyskinesia.

Head oscillations in response to whole body oscillation of Parkinsonian patients before and after administration of levodopa were compared with those of normal subjects. Parkinsonian patients developed large increases in the amplitude of their head movements while fixating a stationary target after administration of levodopa. This increase was proportional to disease severity and was maximal in stage IV patients with levodopa induced dyskinesias. These findings indicate a fundamental yet reversible change in the strategy of eye-head coordination in Parkinsonian patients after administration of levodopa which may be due to release of normally inhibited visuo-vestibular reflexes.

Aged↗
PubMed2004

Segmental conduction abnormalities and myelin thickenings in Val102/fs null mutation of MPZ gene.

The authors report in patients with Val102/fs null mutation a possibly age dependent variability of clinical and electrophysiologic phenotype, segmental conduction abnormalities mainly in ulnar nerves at the elbow, and excessive myelin foldings and thickenings. The authors hypothesize that myelin thickenings at the paranodal region, in concurrence with compression at usual entrapment sites or minor repetitive trauma, may induce segmental conduction abnormalities.

Adult↗
PubMed1987

Evaluation of blood pressure control after bilateral glomectomy: effects of propranolol treatment.

The effects of bilateral glomectomy on arterial blood pressure and heart rate and the response to the pressor tests were studied in a women of 37. Arterial pressure and ECG were recorded by the continuous unrestricted Oxford method. Hypotension, increased blood pressure variability and tachycardia rapidly developed 2 days after surgery, indicating sympathetic hyperactivity and/or deactivation of vagal tone. Wide blood pressure fluctuations were present on standing and abnormal blood pressure responses to head up tilting and to the Valsalva maneuver were observed reflecting a less prompt and precise control of blood pressure. Treatment with propranolol reduced tachycardia and blood pressure variability. After 5 and 17 months of this therapy propranolol was withheld for 36 h. Tachycardia was still present and blood pressure fluctuations were recorded on assuming the upright posture. However, the heart rate and pressure response to the Valsalva maneuver were normal after 17 months, indicating an improvement of the reflex control of blood pressure.

Adult↗
PubMed2005

Drop attacks secondary to superior canal dehiscence syndrome.

Two patients with unprovoked drop attacks were found to have dehiscence of the superior semicircular canal on CT of the temporal bone. Both had conductive hearing loss, preservation of stapedius reflex, and abnormal vestibular evoked myogenic potentials. Neither had sound- or pressure-induced nystagmus. Repair of the dehiscence in one case stopped the drop attacks, supporting a causal relationship between the dehiscence and the drop attacks.

Aged↗
PubMed2004

A novel MPZ gene mutation in congenital neuropathy with hypomyelination.

Congenital hypomyelinating neuropathy (CHN; MIM# 605253) is a severe neuropathy with early infancy onset inherited as an autosomal dominant or recessive trait. Sural nerve biopsy shows a characteristic picture of nonmyelinated and poorly myelinated axons with basal lamina onion bulbs and lack of myelin breakdown products. Several mutations in the MTMR2, PMP22, EGR2, and MPZ genes have been found in patients with CHN. The authors describe the clinical and morphologic features of a patient with CHN and the identification of a novel Thr124Lys mutation in the MPZ gene.

Abnormalities, Multiple↗