We describe herein the clinical symptoms, clinical course and results of investigation of 7 patients with bilateral basal ganglia-thalamic lesions (BBTL).
All patients had spastic quadriplegia with rigidity. They were unable to sit and turn over. They could follow objects, turn head towards a sound and recognize parents to some degree. They were all evaluated as having the most severe degree of disability (Oshima's classification 1). They all had dysphagia and 2 patients had a episode of bradycardia and hypothermia, which might be evidences of brain stem disorders. Muscle hypertonia, vomiting, hematemesis and obstructive respiration, which were the major complications for the patients, worsened with age.
High percentage of histories of birth asphyxia and poor feeding in the neonatal period suggested that perinatal brain insults might be one of the important factors for developing BBTL. It seemed to be difficult to explain that such diffuse brain injuries in our cases were caused by only the insults during parturition. Brain insults during parturition as well as prenatal factors probably participate in developing BBTL.
Although the cerebrum of the patients seem to be relatively preserved in the images of head CT-scan, MRI of the patients revealed diffuse brain lesions. All of five patients tested had an abnormal auditory brain stem response (ABR). These investigations demonstrated that patients with BBTL have diffuse brain damage including brain stem.
Further observation is needed to verify the mechanisms of development and the time of onset of BBTL.

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We investigated the developmental changes of the central conduction time (CCT) of the median nerve somatosensory evoked potential (SEP) and the auditory evoked potential (ABR): SEP was recorded in 148 children and adults, and ABR in 307 subjects.
We determined the rostral CCT (CCT 1: P 14 to N 17) and the caudal CCT (CCT 2: N 17 to N 19), because the central sensory tract was long, and included the spinal tract, brainstem, thalamus and cerebral cortex. The greatest changes in CCT of SEP occurred during early infancy (0 to 6 months of age). The latency of SEP gradually decreased with maturation. CCT 2 showed similar developmental patterns and was longer than CCT 1 during 0 to 4 months of age. Developmental changes in CCT 1 linearly decreased as age increased.
The CCT of ABR also decreased as age increased. The maturation of I-III interpeak latency (IPL) (2 years of age) was earlier than the III-V IPL (3 years of age). The maturation of both ABR and SEP was seen from the rostral to caudal direction.
The correlation coefficients of CCT, CCT 1 and CCT 2 divided by body height were 0.86, 0.77 and 0.69, respectively. They were higher than non-divided correlation coefficients. CCTs of the short latency SEPs were also related to body height.

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Neurophysiologic studies on six patients (five lissencephaly and one schizencephaly) with migration disorder were performed in order to evaluate the CNS function by multimodality evoked potentials. All cases revealed abnormalities in SSEP, four cases lost components below P 3 or had low voltage of P 3 indicating brainstem dysfunction in the somatosensory pathway. Two cases lost component below N 1 indicating sensory cortical dysfunction. Three cases revealed ABR abnormalities including a low amplitude of wave V, and one case revealed a prolonged peak latency of wave I and a low amplitude of all components.Two cases revealed abnormalities of poor cortical components in SEP, two cases in VEP, and three cases in MLR. Five cases had normal findings in P-SEP and three cases in VEP. The result of this study demonstrates that patients with migration disorder are frequently associated with cortical, brainstem and peripheral dysfunctions and has heterogeneity in pathophysiology.

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Serial cranial ultrasonography was performed in 17 preterm infants with periventricular leukomalacia (PVL) in the neonatal period. Periventricular high-echogenecities were observed in all infants, and periventricular cysts in 14/17 infants (82%). We investigated the correlation between these findings and abnormalities on MRI in late infancy.
Periventricular high-echogenecity was correlated with the extent of periventricular high-intensities on T₂-weighted images of late inf anile MRI. The extent of periventricular cysts was correlated with that of volume loss on MRI during late infancy. The degree of periventricular echo-lesion was associated with that of neurological abnormalities of infants. The extent of periventricular echo-lesion has the same prognostic value as findings on MRI in infants with PVL.

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We found two Niemann- Pick disease model mouse species, NCTR- BALB/c mouse and SPMmouse. NCTR-BALB/c mouse is known as a model mouse of Niemann-Pick disease type C, because cholesterol esterification is deficient in fibroblasts. On the other hand, SPM mouse has been thought as a model of Niemann-Pick disease type A. However, we disclosed cholesterol esterification in fibroblasts from SPM mice is also deficient. It indicates that two model mice could be caused by a same genetic deficiency.
To test if the genetic defect of those mice are located in the same gene, we made NCTR-BALB/c mouse heterozygotes mate with SPM mouse heterozygotes. The Fl mice are investigated by lipid analysis, lysosomal enzyme assay, cholesterol esterification ratio, and electron microscopic study. Eleven in 42 F1 mice (25%) got affected, and the clinically affected Fl mice had the biological and morphological abnormalities which are seen in SPM and NCTR-BALB/c mice. These data suggest that genetic defects in NCTR-BALB/c and SPM mice are located in the same gene.

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We studied sleep disordered breathing (SDB) in 12 patients with group A xeroderma pigmentosum (XP) by means of respiratory inductive plethysmography (Respisomnograph: Nims) during polysomnographical examination. The subjects were 6 male and 6 female patients aged from 10 months to 25 years. Four out of the subjects had SDB: 3 showed sleep apnea (apnea index ranged from 5.2 to 44.2/h) and 1 presented desaturation during sleep (desaturation time per total sleep time was 4.3%). All these patients were over 12 years. The patients below 14 years had mainly the central type of SDB, and the others aged over 16 years had both the central and obstructive types of SDB. Three of the 4 patients had daytime sleepiness or restless sleep, which seemed to be due to SDB. We discussed the pathophysiology of SDB with XP in relation with brain stem function and peripheral neuropathy. We must pay attention to SDB in patients with XP aged over 12 years.

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We report our experience using lidocaine to determine the epileptic focus in a case of refractory status epilepticus associated with an aberrant intracranial shunt tube. Pentobarbital anesthesia rapidly suppressed convulsions. However, whenever the pentobarbital was decreased, the status epilepticus was resumed. The seizure looked primarily generalized both clinically and electroencephalographically, but EEG monitoring with intravenous administration of lidocaine demonstrated that the ictal waves began from the right anterotemporalarea, where the shunt valve and tube were placed. Removal of the shunt tube and the surrounding scar tissue eliminated status epilepticus. Our result suggests the excellent efficacy of lidocaine to distinguish secondarily generalized status epilepticus from primarily generalized one.

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Among the severely-handicapped, hiatus hernia (HH) and/or gastroesophageal regurgitation (GER) are not uncommon. We report here three patients with HH and/or GER. Two of them died of massive hemorrhage in the alimentary tract from the heart or the thoracic aorta due to penetration of the gastric or esophageal ulcer. The third patient died of pneumonia, but autopsy proved multiple esophageal ulcers, one of which reached the wall of the brachiocephalic artery without penetration. We propose that proper treatment for HH and/or GER is required for the severely-handicapped, including surgical intervention, before their general conditions become worse and decompensatory.

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A four-year-old boy with cerebral palsy showed marked myoglobinemiand developed acute renal failure. Peritoneal dialysis and exchange transfusion resulted in saving the patient. He had a second episode of rhabdomyolysis after one month. Renal failure did not develop due to forced solute-alkaline diuresis therapy. Muscle biopsy revealed nemaline bodies by the Gomori trichrome stain. Serum and muscle carnitine showed a marked decrease.

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We reported a case of Larsen syndrome with cervical cord compression. She had a flattened face, bilateral joint dislocations of the elbows, hips and knees, and equinovalgus deformity on the feet. At first she had flaccidity of the upper and lower limbs, she gradually developed spastic. On labolatory examination, CSF protein was elevated. EMG showed fibrillation. In short latency somatosensory evoked potential (SSEP), N 20 was not detected. MRI showed a severe cervical cord compression. Cervical spine deformity has been often described in the previous reports on Larsen syndrome, but cervical cord compression demonstrated by MRI was reported in only one case. We should take into consideration this risk associated with Larsen syndrome.

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We report two cases of absence seizures, in which zonisamide monotherapy was effective. In one case the attacks recurred 6 months after the beginning of zonisamide therapy but ceased again with an increase of the dosage. The EEG prior to treatment showed 3 Hz generalized spike- wave patterns and 3 Hz high voltage slow wave burst in the right occipital area in one case, and 3.5-4 Hz generalizedspike-wave patterns and focal spike-wave complexes in the left frontal to central areas in the other. One of the generalized spikewave patterns were preceded by right occipital δ wave burst in one case, and bilateral occipital sharp-wave complex in the other. It is suggested that zonisamide monotherapy may be effective against absence seizures with focal paroxysmal discharges.

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[in Japanese]

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[in Japanese]

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