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PubMed1996

A new autosomal recessive syndrome of pachygyria.

Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known. This report describes a family in which the parents are first cousins and three of the siblings suffer from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a distinct type of autosomal recessive pachygyria.

Abnormalities, Multiple↗

PubMed1991

[Neurological examination of the elderly. Principle modifications and most-frequent abnormalities].

This article will review age-related changes in the neurological examination. The involutional process is a diffuse one, affecting all levels of the neuraxis simultaneously. Most of the numerous little manifestations distinguishing them so sharply from the youthful are really features of the neurology of the elderly. Some signs are characteristic: attitude of general flexion, general poverty of movement, gait, minor extrapyramidal signs, primitive reflexes. However, these features may also be caused by neurological diseases common in the elderly, such as dementia or cervical myelopathy, which is very common after 75 years.

Aged↗

PubMed2003

Hypometric primary saccades and increased variability in visually-guided saccades in Huntington's disease.

Eye movement abnormalities can be distinctive and suggestive of a specific pathophysiology. To further investigate the deficits in the control of saccades in patients with Huntington's disease (HD), we investigated the ability of 11 HD patients and 11 matched controls to perform visually-guided saccades. We adopted reflexive saccade tasks involving predictable and unpredictable sequences, at different amplitudes of target step (10 degrees, 20 degrees, 30 degrees, 40 degrees ), as well as voluntary self-paced saccades. Prolongation of initiation was observed in the HD group as the target amplitude of predictable saccades increased. During the self-paced saccade task, the HD patients had increased intersaccadic intervals, performed fewer saccades in the allocated time and displayed an increased temporal variability in comparison to the controls. Furthermore, hypometric primary saccades, and an increased number of corrective saccades, were observed during both reflexive and voluntary saccades in the HD group. The delayed initiation of large saccades, deficits in voluntary, self-paced saccades, impaired saccadic accuracy and increased corrective saccades in HD, were interpreted in light of other ocular motor and limb studies, and appear to be due to damage to the fronto-striatal loop, including the supplementary eye fields, as well as possible brainstem and cerebellar involvement.

Adult↗

PubMed1987

Posture-dependent chronotropic effect of carotid sinus massage.

The hypertensive carotid sinus can be divided into cardioinhibitory (chronotropic) and vasodepressor components; the former can be evaluated by carotid sinus massage performed in the supine position. We present the case of a patient in whom the abnormal cardioinhibitory response could only be demonstrated while in the sitting position.

Carotid Sinus↗

PubMed1985

Neurological findings in patients with the fragile-X syndrome.

We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after Down's syndrome. In order to determine the prevalence of seizures and the frequency of specific neurological features, we studied a total of 17 patients with the fragile X syndrome. 41% had grand mal seizures; 41% had extensor plantar responses; 47% had hyperactive behaviour and 65% exhibited stereotypics; 59% had incoordination and 35% had blepharospasm. We emphasise the need for chromosome analysis of patients with unexplained mental retardation, specific phenotypic abnormalities, and large testes.

Adult↗

PubMed1984

A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia.

We describe two brothers with severe microcephaly, unusual retinal pigmentary anomalies, intellectual function in the average or low average range, and a strong family history of hyperreflexia. The brothers have a previously undescribed syndrome, while the hyperreflexia appears to represent a coincidental autosomal dominant Mendelian trait, perhaps linked to the Kell blood group system.

Abnormalities, Multiple↗

PubMed2004

Aicardi-Goutières syndrome: clinical and neuroradiological findings of 10 new cases.

AIM: To describe the clinical and neuroimaging findings in new cases with Aicardi-Goutières syndrome (AGS) from Egypt. METHODS: Ten patients with progressive encephalopathy, bilateral calcification of the basal ganglia and spastic quadriplegia were described. Feeding difficulties, irritability, unexplained episodic fever and acrocyanosis were also observed. They were diagnosed as AGS after excluding possible non-genetic causes (especially TORCH) and because of the high interferon-alpha (IFN-alpha) level in cerebrospinal fluid (CSF) in two children who underwent this specific investigation. RESULTS: Six patients had postnatal microcephaly. Putamen was by far the most common site of calcification (nine cases) inside the basal ganglia. Calcifications were extended to the white matter, periventricular and cerebellum in three cases. Brain atrophy and/or white matter demyelination were evident in most of the cases. Further, hypogenesis of corpus callosum was detected in two cases; one of them had in addition cerebellar hypoplasia, atrial septal defect (ASD) and horseshoe kidney. To the best of our knowledge, the association of these congenital abnormalities has not been reported before in AGS. Eight families were consanguineous. CONCLUSION: This paper presents variability in both age of onset, clinical picture and neuroimaging findings even in the same family, comprising new congenital abnormalities associated with AGS and subsequently expanding the spectrum of heterogeneity. The observation of familial cases and both affected males and females emphasized the major role of the single gene inheritance.

Abnormalities, Multiple↗

PubMed1993

The effect of recombinant human erythropoietin on cardiovascular responses to postural stress in dialysis patients.

The normal response to 45 degrees head-up tilt (decreased stroke volume and cardiac output and increased heart rate and peripheral resistance) is not seen in the majority of haemodialysis patients. This is due to both an abnormal baroreceptor reflex and increased venous tone which may be explained by a number of factors including hypoxia, acidosis and sodium retention. We have studied this response by impedance cardiography in eight chronic haemodialysis patients, both before and after 3 months of treatment with human recombinant erythropoietin. Before treatment the cardiovascular parameters were abnormal both at rest and on tilting in each patient. The change in each measurement following tilting was: stroke volume, 0.5 +/- 6%; cardiac output, 6 +/- 5%; peripheral resistance, -8 +/- 4%; and heart rate, 10 +/- 4%. After 3 months of erythropoietin (150 U/kg/week intravenously) the mean haematocrit had risen from 19.5 +/- 3% to 32.9 +/- 4% and all patients felt physically fitter. Impedance showed no change in the supine-indices but after tilting there was a dramatic fall in stroke volume (-26 +/- 7%) and cardiac output (-17 +/- 7%) and an increase in heart rate (15 +/- 4%) and peripheral resistance (28 +/- 10%) each moving towards the normal response. These results indicate that human recombinant erythropoietin normalizes the response to postural stress in these patients and suggest that anaemia is the principal cause of the abnormal venoconstriction seen in haemodialysis patients. The mechanisms involved warrant further investigation.

Adult↗

PubMed2006

Relationship of underlying abnormalities in rectal sensitivity and compliance to distension with symptoms in irritable bowel syndrome.

BACKGROUND/AIMS: Abnormalities in rectal physiology play an important role in the genesis of symptoms in irritable bowel syndrome (IBS). However, their relationship to symptoms is unclear. Our aim was to investigate the association of abnormalities in rectal sensitivity and compliance to specific symptoms in IBS. METHODS: Fifty-six IBS patients and 14 healthy controls participated in this study. The intensities of individual IBS symptoms in the past 4 weeks were scored on a graded 5-point Likert scale. Using a barostat, isobaric rectal distensions were performed before and after a meal. RESULTS: Rectal hypersensitivity and hypocompliance in the fasting state were observed in 68 and 52% of IBS patients, respectively. Postprandial hypersensitivity of the rectum was significantly more prevalent in the diarrhea-predominant IBS (D-IBS) group compared to the constipation-predominant IBS (C-IBS) group. The D-IBS group showed a significant postprandial decrease in rectal compliance, but the C-IBS group did not. A significant correlation was observed between a sense of incomplete evacuation and increased bowel movements with postprandial rectal hypersensitivity or hypocompliance. CONCLUSION: A sense of incomplete evacuation and increased bowel movements are related to postprandial abnormalities in rectal sensitivity and compliance to distension. The other IBS symptoms do not seem to predict such abnormalities.

Adult↗

PubMed1993

Prolongation of the QTc-interval reflects the severity of autonomic neuropathy in primary biliary cirrhosis and in other non-alcoholic liver diseases.

It was the aim of our study to prove a potential correlation (a) between laboratory findings of cholestasis and autonomic neuropathy (AN) and (b) between the severity of AN and the prolongation of the corrected QT-time (QTc). The five standard tests of autonomic cardiac neuropathy were investigated. QTc was calculated according to Bazett's formula. 12 out of 14 patients with primary biliary cirrhosis, 18 out of 21 patients with HBsAg positive liver diseases and 11 out of 14 patients with cirrhosis of other origin had AN. No significant correlation between the laboratory parameters of cholestasis and AN was found. Abnormal QTc values (> 440 m/sec) were observed significantly more often (p < 0.002) in patients with AN than in patients without AN. Significant linear regression (p < 0.01) could be confirmed between the prolongation of the QTc-time and the severity of AN. Besides the non-invasive investigation of the cardiovascular reflexes the evaluation of the QT-time might be an additional diagnostic means to identify patients with an increased cardiovascular risk in chronic non-alcoholic liver diseases.

Adult↗

PubMed1995

Asymmetry in plantar grasp response during infancy.

The neurologic outcomes of 61 children with asymmetric plantar grasp responses during infancy were evaluated during a follow-up period of 2.8-11.9 years (mean: 6.1 years). They all had perinatal risk factors and/or neurologic signs except for asymmetric plantar grasp responses recorded during infancy. The outcomes consisted of cerebral palsy in 38, delay in motor development in 6, mental retardation in 3, borderline intelligence in 9, and normal in 5. Most patients demonstrated concordance between the side of the abnormal response and the laterally in motor function and abnormal computed tomographic findings. The asymmetry in the plantar grasp response strongly suggests the existence of brain dysfunction. Infants with this asymmetry should be carefully monitored for the development of neurologic abnormalities.

Brain↗

PubMed1998

Neurocognitive effects of chronic lead intoxication in Andean children.

Lead (Pb) intoxication in children has been associated with neurodevelopmental disabilities which may result in motor and cognitive impairment. We conducted blood lead (PbB) measurements, neurological examinations and cognitive tests on children living in Ecuadorian villages where Pb is used extensively in the glazing of ceramics. Group I consisted of 55 children with a mean PbB level of 48.0 microg/dl (SD: 26.4, range: 9.2-119.1 microg/dl) who received PbB tests and complete neurological examinations. An appreciable number of the children with elevated PbB levels were normal on specific components of the neurological examination. Among the children who showed neurological deficits, higher PbB levels were associated with abnormal tendon reflexes, finger tapping, visual pursuit, size discrimination, draw-a-person, and math calculation skills. Group II consisted of 41 children with a mean PbB level of 47.4 microg/dl (SD: 22.0, range: 6.6-84.7 microg/dl) who were administered Raven's Coloured Progressive Matrices (RCPM) non-verbal reasoning test. Performance on RCPM was abnormal in 22 (53.7%) of 41 children. Children with abnormal RCPM scores had higher PbB levels (t-test: P=0.030). There was a significant inverse correlation between RCPM scores and PbB levels for children ages 9 years and older (r=-0.618, P=0.011). Males had higher mean PbB levels as a function of age than females (t-test: P=0.037), and more males showed neurocognitive deficits. The results demonstrate a range of neurological responses in children with chronically elevated PbB levels from apparent exceptional neuro-physiological tolerance of PbB intoxication, to some fine motor and cognitive deficits.

Ceramics↗

PubMed1991

The construction of a scored neonatal neurological examination for assessment of neurological integrity in full-term neonates.

We describe the construction of a scored form for the neurological examination of the full-term neonate. Extensive data analyses were obtained from a large sample of neonatal neurological examinations performed by one examiner (MSP). Examinations were used from neonates with ages less than or equal to 48 hours (n = 727) and 72 hours to 1 week (n = 510) with gestational ages greater than or equal to 37 weeks. Forty-four items from several neonatal assessments were used in these neurological examinations. Further subdivision yielded a total of 65 items. Correlations were obtained for the 65 items. We factored the matrix of these correlations, using several solutions of factor analysis. Thirty-two items were thus grouped and pruned into seven dimensions (factors) to provide a scorable neonatal neurological examination (Neoneuro) with an internal consistency or reliability of 0.80. From the total scores, cut points are recommended for categories of normality/abnormality: normal, mildly abnormal, moderately abnormal, and severely abnormal. This scoring system is well-based both theoretically and psychometrically. The quantified computer-compatible scoring system permits evaluation of individual neonates, as well as comparison of samples of neonates on item scores, subscores (factor scores), and total scores. Such quantification will permit documentation of the natural history of specific abnormalities and the evaluation of various therapies.

Brain Damage, Chronic↗

PubMed2002

Objective evaluation of infraorbital nerve involvement in maxillary lesions by means of the blink reflex.

OBJECTIVE: To objectively evaluate the effects of maxillary lesions on the infraorbital nerve (ION). METHODS: We investigated the latencies (R1, R2) of the blink reflex, stimulating the infraorbital foramen electrically (18 mA, 0.2 millisecond). Twenty-two patients with unilateral maxillary lesions were enrolled. RESULTS: Ten patients showed delayed or absent R1 on the lesion side. Four of 20 patients showed delayed difference in R2 latency. Ten (77%) of 13 patients with lesions along the ION pathway showed an abnormal blink reflex. Only 3 patients demonstrated a normal blink reflex despite a lesion along the pathway of the ION. All patients whose ION pathway was intact showed a normal blink reflex. CONCLUSIONS: These results suggested that lesions along the ION pathway may impair the afferent pathway of the blink reflex. The blink reflex may be valuable to evaluate maxillary lesions objectively. Furthermore, R1 is more effective than R2 in detecting ION defects.

Adult↗

PubMed1979

Carotid sinus hypersensitivity in patients presenting with syncope.

In 23 patients (ages 44 to 81) presenting with syncope, vertigo, or transient amnesia, carotid sinus massage produced a significant bradycardia in association with symptoms. The 10 most severely symptomatic patients were studied electrophysiologically, including measurement of intracardiac conduction times and corrected sinus node recovery times, as well as with carotid sinus massage before and after atropine. The only detectable abnormality in five of this group was asystole produced by carotid sinus massage; the other five had, in addition, evidence of either sinuatrial disease or an intracardiac conduction defect. Cardiac pacing in these 10 patients completely abolished their symptoms. In a control group of 52 asymptomatic patients (ages 36 to 87), an abnormal response to carotid sinus massage was uncommon (2%).

Adult↗

PubMedDate not supplied

Unexpected good results after therapy for anisometropic amblyopia associated with unilateral peripapillary myelinated nerve fibers.

Unilateral extensive myelination of the peripapillary nerve fibers may be associated with anisometropic myopia, strabismus, and reduced vision. Despite aggressive occlusion of the normal eye, visual results are often disappointing, presumably due to associated structural abnormalities in the macula which limit visual potential. We report two cases, a 21-month-old child and a 23-month-old child with unilateral peripapillary myelination, ipsilateral high myopia, and dense amblyopia. Despite an abnormal macular reflex in each child, vision improved to 20/30 in one child and 20/50 in the other child after occlusion therapy. Visual results in these patients suggest that aggressive amblyopia therapy should be considered in patients with anisometropic amblyopia associated with extensive myelination continuous with the optic nerve. Not all patients with unilateral peripapillary myelinated nerve fibers, an abnormal macula, and myopia will have refractory amblyopia.

Amblyopia↗

PubMed1970

A prospective study of mental and motoric development in premature children with a birth weight less than 2000 grammes. The prognostic value of pathological neurological signs.

As a conclusion I will say that a careful and repeated neurological examination enables us to make an early diagnosis of brain damage in premature children, but neither the history of the neonatal period, the separate clinical signs, nor the study of the psycho-motoric development is conclusive for the diagnosis. The prognosis seems to be good if the neonatal period is without abnormalities.

Brain Damage, Chronic↗

PubMed1978

[Acute syndromes of the brain stem in newborn infants with birth injuries--case report].

The acute syndroms of the brainstem of cerebral injuried newborns by the birth trauma (casuistry). The neurologic clinical symptomatology of the acute syndroms of the brainstem are described in brief. Three cases of damaged newborn with this syndroms are particular published. Especially performed are: the possibility of repair, the changing of the symptoms, the danger of manual transformation of abnormous cephalic positions and the need of topological diagnosis in follow-up of special care.

Acute Disease↗