Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?

We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. These manifestations were similar to those seen in Lowry-Wood syndrome (LWS). He also had hypoplasia of the corpus callosum and leukonychia totalis, which were not described in the previous cases.

EEG coherence changes during finger tapping in acallosal and normal children: a study of inter- and intrahemispheric connectivity.

The EEG inter- and intrahemispheric coherences (ICoh and HCoh) in the theta, alpha and beta bands were studied in an acallosal group (ACCG) of five children and a normal group of 30 sex- and age-matched children (NG) during resting and tapping conditions. Being functionally deficient, tapping in the ACCG was characterized by increased intertap intervals and variability (in right-hand tapping) and by variability together with decreased synchronization (in bimanual tapping). In the ACCG, frontal, central and parietal ICohs were shown to be smaller, while temporal ICohs were larger under all conditions (see also Koeda, T., Knyazeva, M., Jonkman, J., Njiokiktjien, C., De Sonneville, L., Vildavsky, V., 1995. The resting EEG in acallosal children: compensatory left hemisphere mechanisms? Electroencephalogr. Clin. Neurophysiol. 95, 397-407). The effect was most pronounced in the EEG beta band. The sagittal HCohs, including fronto-central, fronto-parietal, and centro-parietal HCohs within both hemispheres, were larger in the ACCG, whereas temporal HCoh (fronto-temporal, centro-temporal, parieto-temporal and occipito-temporal) were smaller, suggesting rearrangement of intracortical activity associated with callosal agenesis. Tapping induced an increase in ICoh and HCoh between frontal, central and parietal areas in the NG, and weak enhancement only in the left temporal HCoh in the ACCG. The beta band, the most reactive band in the NG, was 'silent' in the ACCG, suggesting deviant cortical function during motor activity as well.

Screening of urine by one-dimensional and pulsed-field gradient two-dimensional 1H NMR spectroscopy: intoxication by propylene glycol in an infant patient.

1H NMR spectroscopy is a promising method for the analysis of physiological fluids in clinical medicine. In the course of screening the urine of patients by 1D- and pulsed-field gradient 2D 1H NMR spectroscopy at 500 MHz, we encountered a case with a very high excretion of propylene glycol compared to others who received similar doses of the medication. In this case, the propylene glycol was scarcely metabolized by the patient. Propylene glycol is widely used as a safety material which is transformed into pyruvate and lactate in the healthy body. In this paper, we discuss how NMR spectroscopy can be a useful method for screening a patient intoxicated with propylene glycol.

Relationship between enhancement of morphine analgesia and inhibition of enkephalinase by 2S, 3R 3-amino-2-hydroxy-4-phenylbutanoic acid derivatives.

The effects of nineteen AHPA* derivatives were examined on morphine analgesia by tail-flick test in rats and on enkephalinase inhibition which was based on the formation of tyrosyl-glycyl-glycine from met-enkephalin. The correlation between the enhancement of morphine analgesia in vivo and enkephalinase inhibition in vitro was analyzed. The different analogs varied considerably in the degree of enhancement of morphine analgesia and inhibition of enkephalinase. A close relationship between enkephalinase inhibition expressed by IC50 in vitro and enhancement of morphine analgesia in vivo was observed in thirteen out of nineteen AHPA derivatives examined. One of other six AHPA derivatives which showed weak effectiveness in potentiating on morphine analgesia but was highly potent as an enkephalinase inhibitor, caused potent analgesic action when it was applied intracisternally indicating poor penetration of the blood brain barrier. The possibility was discussed that some of other compounds excluded from the linear relationship might act on other enkephalin degrading enzymes such as aminopeptidase.

Studies on the electrical stimulation-induced contractile responses of hamster and mouse gallbladders.

Isolated gallbladders of both hamsters and mice showed a contractile response consisting of initial and secondary contractile responses to electrical stimulation with rectangular pulses (50 volt, 40 Hz) of 6 msec duration for a period of 10 seconds. The duration time of the contractile response was very long. This was because the duration time of the process of the initial contractile response was as short as 5 to 40 seconds, but that of the secondary contractile response was as long as 8 to 15 minutes. Both initial and secondary contractile responses of the gallbladder in both hamsters and mice were little affected by atropine (1 x 10(-6)M, guanethidine (1 x 10(-6) M) and tetrodotoxin (1 x 10(-7) M). In both animals, further, the initial contractile response of the gallbladder was little affected by indomethacin (1 x 10(-5) M) and 5, 8, 11, 14-eicosatetraynoic acid (ETYA) (5 x 10(-6) g/ml), while the amplitude of the secondary contractile response of the gallbladder was significantly reduced by such drugs. From these results, we obtain the following conclusions: 1) In both animals, the intramural nerves of the gallbladder may have no influence on the both initial and secondary contractile responses of the gallbladder. 2) The initial contractile response is probably mediated by a direct effect of the electrical stimulation to the muscle in the wall of the gallbladder, while the secondary contractile response is probably attributable to prostaglandins released from the wall of the gallbladder by a direct effect of the electrical stimulation to the wall.

Absence of ganglionated plexus in bullfrog gallbladder.

We first carried out microscopic observation of the intramural nerves of a bullfrog gallbladder which were fixed and stained with a solution of OsO4 and ZnI2. We then investigated if the responses of isolated frog gallbladder evoked by electrical stimulation are mediated through the intramural nerves. The following results were obtained: 1. The nerve plexus and the perivascular nerves were observed in the subserosal layer of the wall of the gallbladder. These nerves do not have a ganglia. That is to say, no ganglionated plexus or ganglia were observed in the subserosal layer of the wall of the gallbladder. 2. Electrical stimulation caused the gallbladders to contraction with rectangular pulses (50 volt, 40 Hz) of durations of 0.5, 1, 2, 3, 4 and 5 msec for a period of 10 sec. Three blockers of nerve mediated responses, atropine (1 x 10(-6) M), guanethidine (1 x 10(-6) M) and tetrodotoxin (3 x 10(-7) M), had no effect on the gallbladder contractions induced by stimulation with pulses as short as 0.5 msec or as long as 5 msec. These results suggest that the bullfrog gallbladder may not contain nerves related to movement. Thus, the contraction of the bullfrog gallbladder induced by electrical stimulation does not seem to be modulated by extrinsic nerve terminals distributed in the gallbladder wall.

Studies on the intramural nerves of the hamster and mouse gallbladders.

We first carried out microscopic observation of the intramural nerves of hamster and mouse gallbladders which were fixed and stained with a solution of OsO4 and ZnI2. For this microscopic observation, the guinea-pig gallbladder was used as a control. We then investigated the relationship between the motility and intramural nerves of the isolated gallbladder in both the hamster and mouse. The following results were obtained: 1. The ganglionated plexus and the perivascular nerves as the intramural nerves of the guinea-pig gallbladder were observed in the subserosal layer. These perivascular nerves were not possessed of ganglia. On the other hand, the nerve plexus and the perivascular nerves as the intramural nerves of the gallbladders of hamster and mouse were observed in the subserosal layer. These nerves, that is, the nerve plexus and the perivascular nerves, were not possessed of ganglia. That is to say, no ganglionated plexus or ganglia were observed in the subserosal layer of the walls of hamster and mouse gallbladders. 2. The isolated hamster and mouse gallbladders evoked spontaneous motility. This spontaneous motility was little affected by either atropine (1 x 10(-6) M) or tetrodotoxin (1 x 10(-7) M). 3. The hamster and mouse gallbladders showed a contractile response to electrical stimulation with rectangular pulses (50 volt, 40 Hz) of durations of 0.5, 1, 2, 3, 4, 5 or 6 msec for a period of 10 sec. These contractile responses were little affected by either atropine (1 x 10(-6) M) or tetrodotoxin (1 x 10(-7) M). 4. The long duration of the contractile response was mediated by electrical stimulation with rectangular pulses (50 volt, 40 Hz) of durations of 4, 5 or 6 msec for a period of 10 sec. That is to say, its duration time was approximately from 8 to 15 minutes for both hamster and mouse. These results suggest that the hamster and mouse gallbladders may not contain the nerves that take part in the movement of the gallbladder. That is to say, the contractile response of the hamster and mouse gallbladders seems to be myogenic rather than neurogenic in its control. It is, however, possible that some substance other than the neurotransmitter in the walls of these gallbladders may also play a part in the control of the contractile response, although further study will be necessary to verify this suggestion.

Bilateral opercular syndrome caused by perinatal difficulties.

Four patients with pseudobulbar palsy, mental retardation and various degrees of speech disturbance associated with perinatal difficulties are described as having an acquired type of opercular syndrome. There were two patients with fetal bradycardia and three with subarachnoid haemorrhage and neonatal convulsion. Magnetic resonance imaging revealed cortical atrophy in the bilateral opercula with some signal abnormalities in the underlying white matter in common. Single photon emission computed tomography (SPECT) also confirmed the presence of hypoperfusion in the regions. Although the opercular syndrome is a clinical entity with a multitude of underlying pathologies, perinatal difficulties could be an important cause of the acquired type.

Low interhemispheric and high intrahemispheric EEG coherence in migraine.

Twenty women with migraine were evaluated by EEG coherence analysis. In comparison with controls, the migrainous subjects showed lower interhemispheric coherence values at C3-C4 for the delta band (P=0.0030) and at F3-F4 (P=0.0055) and C3-C4 (P=0.0018) for the beta band frequency (Wilcoxon criterion). In contrast, 22 intrahemispheric coherence pairs were significantly higher in the migraine group than in the control group (P<0.01). The subjects with visual aura showed lower interhemispheric coherence at O1-O2 and T5-T6 for the alpha band than the subjects without the aura. Discriminant analysis revealed that 95% of the subjects with migraine and 85% of the controls were correctly classified into their proper groups. We suggest that EEG coherence analysis is a sensitive parameter in the detection of electrophysiological abnormalities in patients with migraine.

Mutagenicities of carbadox and olaquindox--growth promoters for pigs.

Carbadox and olaquindox were examined for mutagenicities in the repair tests with Bacillus subtilis (rec assay) and Salmonella typhimurium (uvr assay) and in the reverse mutation test (TA100 and TA98 of S. typhimurium). Both compounds were positive in the rec and uvr assays, and were highly mutagenic for strains TA100 and TA98. Carbadox was about 6 times move mutagenic than olaquindox in the absence of S9 mix. When incubated in S9 mix or bacterial cytosol (BC) mix for various times at 37 degree C, carbadox was found to lose its mutagenic activities easier than olaquindox. The mutagenicity of carbadox was almost inactivated at 10 min after incubation with S9 mix, but olaquindox still retained its activities even at 20 min. While carbadox required 20 min to be inactivated in BC mix, olaquindox was not completely inactivated even if incubated for 60 min.

Progressive encephalopathy associated with cytomegalovirus infection without immune deficiency.

Slowly progressive encephalopathy caused by cytomegalovirus is an unusual disorder, and its pathogenesis remains unknown except for cases associated with the acquired immune deficiency syndrome and organ transplantation. We report a case who showed clinical features of progressive encephalopathy. Cytomegalovirus was repeatedly isolated from urine, and cytomegalovirus-infected cells were detected in bone marrow. Serial computed tomographic head scan revealed periventricular calcification and its progression to the thalamus, cerebellum, and brain stem. On autopsy, there were multiple calcifications and diffuse glial proliferation in the gray and white matter. Perivascular inflammation was only minimal. There was no evidence of immune deficiency. This case suggests that progressive encephalopathy can be caused by cytomegalovirus infection without immune deficiency. This type of cytomegalovirus infection may be unusual, but its serious outcome should remind us to detect it accurately.

Visuo-perceptual impairment and cerebral lesions in spastic diplegia with preterm birth.

Eighteen cases of spastic diplegia (SD) ranging in age from 5 year 4 month to 9 year 5 month with preterm birth were studied to clarify the relationship between visuo-perceptual impairment and their cerebral lesions. All underwent neuropsychological examinations including the Frostig developmental test of visual perception, Tanaka-Binet or Suzuki-Binet intelligence test, and MRI examination. Cerebral lesions were detected in all subjects, and the volume of the peritrigonal white matter of the parietal and occipital lobes was significantly correlated with the visuo-perceptual impairment (r = 0.74, in the axial plane; r = 0.64, in the coronal plane). We propose that visuo-perceptual impairment is caused by cerebral lesions and that the measurement of peritrigonal white matter by MRI is useful for detecting potential visuo-perceptual impairment at an early age.

A case report of remarkable improvement of motor disturbances with L-dopa in a patient with post-diffuse axonal injury.

A 9-year-old girl with rigidospastic quadriplegia as post-traumatic sequela was reported. The distribution of lesions observed on a MRI implied diffuse axonal injury; involvement of the substantia nigra was also detected. L-Dopa administration was remarkably effective for relief of the rigidity. As a result, she became able to walk on her knees and communicate by writing letters. L-Dopa administration should be considered for patients who show rigidity as sequela of diffuse axonal injury with involvement of the substantia nigra.

Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy.

A Japanese boy with megalencephaly and leukoencephalopathy was reported. The clinical characteristics were as follows; slowly progressive megalencephaly starting at 8 months, and motor impairment with ataxia and spasticity, with relatively preserved intelligence and well-controlled epilepsy, and the following MRI findings; diffuse leukoencephalopathy in the supratentorial white matter with cystic subcortical white matter in the temporal tips and the fronto-parietal lobes. This corresponds to vacuolating leukoencephalopathy with megalencephaly, which was recently reported in European countries. In Japan, there were similar case reports previously, however, the patients were diagnosed as having Alexander's disease. It seems that this new leukoencephalopathy must also be seen among Japanese.

Cognitive and neurophysiological evaluation of Japanese dyslexia.

Seven Japanese dyslexic boys were evaluated as to their pedagogic performance on the pupil rating scale (PRS), and psychological and neurophysiological characteristics. One of them suffered from severe English dyslexia despite that his Japanese dyslexia was feeble. PRS did not successfully reveal their reading difficulties. Psychological examination (WISC-R and K-ABC) revealed their cognitive dysfunction, but the results were heterogeneous. The Token test was most useful for detecting their poor reading comprehension. Electroencephalogram (EEG) coherence analysis showed high inter- and intra-hemispheric values. These findings may imply hyperconnectivity of the cerebral white matter in dyslexia. We assumed that the Token test demonstrates the discrepancy between reading and hearing comprehension best of all among these psychological tests and that connectivity between non-functional cortical lesions remains in dyslexic children.

Bilateral opercular syndrome: an unusual complication of perinatal difficulties.

We describe an 8-year old boy with pseudobulbar palsy and speech disturbance associated with fetal distress, mild birth asphyxia and probably intracranial hemorrhage. There is a remarkable dissociation between orofacial voluntary movements and emotional expression. MRI revealed cortical atrophy and subcortical gliosis of both opercula. The clinical and neuroradiological features correspond to bilateral opercular syndrome. We assume that a reduction of cerebral blood flow involving both opercula induced pseudobulbar palsy with severe expressive speech disturbance.

A patient with cerebral palsy whose mother had a traffic accident during pregnancy: a diffuse axonal injury?

A 16-year-old girl had spastic cerebral palsy (CP) with triplegia and focal epilepsy. The patient's past history included her mother's lower abdominal trauma caused by a traffic accident at the 7th month of gestation. Brain examination with magnetic resonance imaging (MRI) revealed encephalomalacia at the bilateral parieto-temporal lobes and the left caudate nucleus, segmental narrowing of the splenium of the corpus callosum, dilatation of the left lateral ventricle and an abnormally high intensity at the right posterior portion of the internal capsule. These findings might indicate a diffuse axonal injury (DAI), but not an asphyxic brain damage. In this patient, CP might be caused by an intrauterine DAI when her mother was involved in the accident.

Type C Niemann-Pick disease: clinical and biochemical studies on 6 cases.

Clinical and biochemical studies were performed on 6 cases of type C Niemann-Pick disease. Neurological symptoms started in early infancy in 3 cases, and in childhood in the other 3 cases. However, no clear discriminations were possible with regard to neurological and general somatic manifestations between these two groups. All patients showed normal or slightly low sphingomyelinase and beta-glucosidase activities in fibroblasts, and a defect of esterification of exogenous cholesterol. The extent of these abnormalities was not correlated with the clinical course or severity of this disease.

A functional magnetic resonance imaging study during sentence reading in Japanese dyslexic children.

A functional magnetic resonance imaging (fMRI) study during Japanese 'kana' readings was performed on Japanese dyslexic children. Five dyslexic children (aged 9-12 years) and five healthy children (aged 9-11 years) were investigated. The fMRI examination was performed by getting these children to read sentences constructed from Japanese phonograms, 'kana', compared with staring at meaningless figures as a control task. All control subjects showed activation of the left middle temporal gyrus. In the dyslexic children, the activation of the middle temporal gyrus was rather vague. However, other distinctively activated regions were detected as follows: the bilateral occipital cortex in two dyslexics, the inferior part of the frontal regions in two other dyslexics, and both the bilateral occipital cortex and the inferior part of precentral gyrus in the remaining one. These results indicate compensatory management processes for the unskilled reading ability of dyslexic children. The present results were similar to previous ones for adult dyslexia with the Roman alphabet, and suggest that brain malfunction in dyslexia during the task of reading must be common despite differences in languages.