[Hypoplasia/aplasia of the cerebellar vermis including Joubert syndrome].
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Cerebellum↗
Biomedical subjects
K Sugai
Publications and source records attributed to K Sugai.
Multiorgan failure induced by intravenous immunoglobulin.
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Child, Preschool↗
[Feeding function, blink reflex and MRI in the severely handicapped].
Blink reflexes were studied in 41 patients with severe handicaps, and were correlated with feeding problems and other lower brainstem symptoms such as drooling, an absent gag reflex and stridor. Ventrodorsal diameters of the pons and medulla oblongata on sagittal MRI were also studied in 29 of the cases. The patients were divided into three groups: tube feeding (25 cases), oral feeding (13 cases) and mixed feeding (3 cases). In the tube feeding group, all but three cases showed a prolonged or absent R1 component, and all cases showed prolonged or absent R2 and R2' components. These abnormalities were significantly more frequent in the tube than in the oral feeding group. The patients with drooling, stridor or an absent gag reflex more frequently showed prolonged or absent components than the patients without these symptoms. The brainstem size on MRI was not different between the tube and oral feeding group. These results suggest that the blink reflex, particularly its late components, is a useful indicator for evaluating feeding function and other lower brainstem functions.
Adolescent↗
Tremor and seizures associated with chronic manganese intoxication.
Tremor and seizures developed in a 2-year-old girl receiving total parenteral nutrition. T1-weighted images on MRI revealed areas of hyperintensity in the basal ganglia, brainstem and cerebellum. Blood manganese was elevated. The symptoms and MRI abnormalities disappeared after withdrawal of manganese administration. The recommendation of daily parenteral manganese intake was discussed.
Brain↗
Apneustic breathing in children with brainstem damage due to hypoxic-ischemic encephalopathy.
To confirm the presence of apneusis in patients with hypoxic-ischemic encephalopathy and to clarify which factors influence their respiratory patterns, polygraphic studies were performed on two patients. Apneusis was clinically suspected in both patients who had severe brainstem damage. In one subject, inputs of vagal afferents from the gastrointestinal tract and the urinary bladder often resulted in extreme tachypnea instead of apneusis. Lung inflation facilitated expiration during inspiratory arrest. Expiration preceded a periodic inhibition of rigospastic discharge in the right biceps muscle. In the other subject, prolonged inspiratory pauses with cyanosis occurred with or without preceding epileptic seizure. Both phenytoin dose reduction and treatment with tandospirone, a serotonin-1A agonist, were effective in improving the respiratory distress in this subject.
Brain↗
Levcromakalim decreases cytoplasmic Ca2+ and vascular tone in basilar artery of SAH model dogs.
We investigated the effects of levcromakalim, a K+ channel opener, on [Ca2+]i and the contractile force of basilar arteries obtained from normal dogs and subarachnoid hemorrhage (SAH) dogs. The responsiveness to serotonin was increased more in the SAH group than in the control group. Levcromakalim decreased the resting [Ca2+]i and force more profoundly than did a Ca2+ channel blocker, nicardipine, and these effects were more prominent in the SAH group than in the control group. Levcromakalim diminished the increases in [Ca2+]i and contractile force induced by serotonin more profoundly than nicardipine did, and these effects were equal in both groups. The effects of levcromakalim were not inhibited by iberiotoxin but were antagonized completely by glibenclamide. These results suggest that levcromakalim-induced opening of adenosine triphosphate (ATP)-sensitive K+ (K(ATP)) channels reduces [Ca2+]i more effectively than does nicardipine and that levcromakalim exerts the vasodilator effects under the condition in which large conductance Ca2+-activated K+ (BK) channels are blocked with iberiotoxin. Consequently, K+ channel openers like levcromakalim may be useful drug candidates to treat delayed cerebral vasospasm after SAH.
Animals↗
Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia.
We report a surgically treated case of early infantile epileptic encephalopathy (EIEE) with suppression-bursts associated with focal cortical dysplasia. Tonic-clonic seizures followed by a series of spasms occurred about a hundred times a day at a few days of age. Interictal electroencephalogram (EEG) revealed a suppression-burst pattern that was predominant in the left hemisphere. Magnetic resonance imaging (MRI) suggested focal cortical dysplasia in the left prefrontal area. Combination therapies with antiepileptic treatments showed only partial efficacy. The patient underwent lesionectomy at age 4 months, after which he gradually showed psychomotor development and a decrease of spasms to 0-2 series daily. In cases of EIEE with focal cortical dysplasia, surgical treatment may have beneficial effects on both psychomotor development and seizure control.
Adrenocorticotropic Hormone↗
The value of serial auditory brainstem response in patients with subacute sclerosing panencephalitis.
A total of 98 serial auditory brainstem responses from 17 patients (11 boys and 6 girls) with subacute sclerosing panencephalitis were compared with their clinical course and stages. These patients were exposed to measles early in life (at 1.8 +/- 1.4 years old) with the average onset of the disease at 8.8 +/- 0.7 years of age. The main abnormalities of their auditory brainstem responses were a prolongation of waves I, III, and V, and of the I to V interpeak interval. Wave V thresholds were also elevated. These effects on the auditory brainstem responses started 1 to 2 years after onset of neurologic signs. I to V interpeak latency became prolonged with the progress of clinical stages, especially in Jabbour's clinically advanced stage IV. In two patients with an acute progressive type of subacute sclerosing panencephalitis, very rapid deterioration with a distorted wave pattern of later components was observed. These findings suggest rostrocaudal progression in the central nervous system of both long-term and fulminant cases.
Acute Disease↗
[Magnetoencephalographic and electrocorticographic studies on the epileptogenic focus in a patient with Kojewnikow syndrome].
Partial motor seizures occur, followed after a variable interval by well-localized myoclonic jerks, in the patients with Kojewnikow syndrome, or epilepsia partialis continua. However, the epileptogenic focus remains to be established. We studied the epileptogenic focus of a 17-year-old boy with intractable Kojewnikow syndrome. Interictal EEG, ictal EEG, jerk-locked averaging, and ictal SPECT revealed a left central focus. A giant SEP indicated increased exitability of the primary sensory area. Magnetoencephalogram (MEG) and electrocorticogram identified the epileptogenic focus in the pre- and post-central cortex, indicating involvement of both the primary motor and sensory areas. Surgical treatment was successful. Thus, MEG proved to be the most accurate tool in the presurgical evaluation.
Adolescent↗
[A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12].
Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A including sporadic cases have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17 p11.2-p12 (CMT1A duplication). We reported a 7-year-old girl with sporadic CMT 1 associated with the CMT1A duplication. The diagnosis of CMT 1 was based on the symmetrical distal muscle weakness, per cavus deformity, reduced motor and sensory nerve conduction velocities, and segmental de- and remyelinatin on sural nerve biopsy. To detect the CMT 1A duplication, peripheral myelin protein 22 (PMP-22) cDNA and a polymorphic marker in this region, VAW409 R3, were employed as probes for Southern blot analysis. Sporadic cases of autosomal dominant-CMT type 1 can not be clinically differentiated from recessive-CMT1. Testing for the CMT1A duplication is an important first step even in the molecular diagnosis of sporadic CMT1.
Charcot-Marie-Tooth Disease↗
The effect of turbulent fluctuation of air on thermal sensation.
The palm of right hand was alternately exposed to turbulent and laminar flows of air with the same velocity, to investigate the effect of turbulent velocity fluctuation on thermal sensation. It could be quantitatively shown for the first time, by measuring subjective sensations, that the turbulent velocity fluctuation had the effect of causing the air temperature to be felt lower than that of the laminar flow. The results of heat transfer experiments using an aluminum disk as a model of the palm suggested that the difference in thermal sensation for the two air flows was generally ascribable to the difference in heat transfer coefficient from the skin of the palm caused by the turbulent velocity fluctuation. The hypothesis that the temperatures of the turbulent and laminar flows of air with the same velocity would be felt the same when heat losses from the skin to the two air flows were equal, was supported by the results of these experiments.
Air↗
Picture of the month. Cutaneous lesions associated with isoleucine deficiency.
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Amino Acid Metabolism, Inborn Errors↗
Characteristic EEG findings in ring 20 syndrome as a diagnostic clue.
OBJECTIVE: To review the EEG features of ring 20 syndrome in two patients and determine the characteristic pattern of this syndrome. The features of our cases and 24 patients reported in the literature will be discussed. SUBJECTS AND METHODS: Report of two patients and review of literature. RESULTS: The two patients had intractable epilepsy since childhood. Their clinical seizures were mostly complex partial seizures. Often the patients seizures were of prolonged duration. Ictal EEG revealed characteristic slow waves, and sharp waves. The slow waves were (1) usually synchronous high-voltage slow waves with or without a spike component predominantly in the frontal and frontopolar areas, (2) sometimes showed a change in frequency every several seconds, (3) continued for a long period, and (4) easily spread diffusely. The sharp waves were 5-6 Hz irregular and diffuse discontinuous sharp waves, and sometimes appeared predominantly in the centroparietal area. The clinical seizure pattern and EEG findings were similar in the 24 published cases. CONCLUSIONS: These EEG findings may be a characteristic feature of ring 20 syndrome and thus may be useful as a diagnostic clue.
Adult↗
3-Hydroxyisobutyric aciduria in two brothers.
Two Japanese brothers with 3-hydroxyisobutyric aciduria (3HiB-uria) are studied. The elder brother died of a ketoacidotic episode at the age of 4 years; the younger brother also manifested repeated episodes of ketoacidosis after 1 year of age. He is diagnosed as having 3HiB-uria by gas chromatography/mass spectometry analysis, using the unique fragment ions of 3HiB. Magnetic resonance imaging reveals focal white matter abnormalities. Protein restriction is effective for preventing the ketoacidotic episodes, although carnitine therapy seems less effective.
Child, Preschool↗
A case of alternating hemiplegia of childhood with cerebellar atrophy.
A case of alternating hemiplegia of childhood is reported. Tonic fits and generalized tonic-clonic seizures developed during her infancy. Frequent twitching and apneic seizures appeared at 16 years of age. Zonisamide transiently suppressed the tonic, twitching and apneic seizures, as well as the facial and neck dystonia. Cranial computed tomography and magnetic resonance imaging revealed progressive vermian atrophy. Cerebellar dysfunction may play a role in the clinical features of some patients with alternating hemiplegia of childhood.
Adolescent↗
Therapeutic apheresis for septic patients with organ dysfunction: hemoperfusion using a polymyxin B immobilized column.
A prospective clinical study was performed to evaluate a new method of treatment of endotoxin shock, a column containing polystyrene fibers with covalently bound immobile polymyxin B. Direct hemoperfusion using the column removes circulating endotoxin by adsorption. All of the patients studied, 37 in the treatment group and 33 in the control group, had endotoxemia and failure of 1 or more organs. The perfusion was performed 1-7 times per patient, 2 h/session. The survival rate was significantly higher in the treatment group (54%) than in the controls (36.4%). The mean plasma endotoxin concentration was significantly lowered by the treatment from 83.7 pg/ml before perfusion to 56.4 pg/ml immediately after and 28.5 pg/ml the day after the treatment, and the posttreatment level was much lower in those who survived (mean, 18.8 pg/ml) compared to those who died (mean, 88 pg/ml). Various parameters of cardiac function also improved after the treatment.
Adolescent↗
A study of ring 20 chromosome karyotype with epilepsy.
We reported a 24-year-old woman with moderate mental retardation and partial epilepsy. She developed complex partial seizures at 3 years of age and generalized tonic convulsions at 9 years. Chromosome analysis revealed that she had mosaicism (87%) of 46, XX, and r(20) (p13,q13.3). Her electroencephalogram showed bilateral 2-3 Hz sharp and wave complex over the bilateral frontopolar, and centro-parieto-occipital areas. Computed tomographic and magnetic resonance image examinations were normal. Twenty-five cases of ring 20 chromosome karyotypes (including this case) have been reported in the literature; 19 showed epilepsy, and 18 showed moderate mental retardation. Many of the patients showed growth retardation and minor malformations. The ring 20 syndrome is associated with a high incidence of epilepsy, particularly partial epilepsy. Our findings indicate that the main features of the ring 20 syndrome are partial epilepsy and mental retardation.
Abnormalities, Multiple↗