Aicardi syndrome is a clinical disease entity consisting of infantile spasms, agenesis of the corpus callosum and chorioretinopathy. Pathologicali dentity of this disorder, however, h as not yet been settled because of extremely rare autopsy cases reported. Agenesis of the corpus callosum generally occurs alone and may coexists with the other malformationss uch as polymicrogyri, aneuronalh eterotopiasa nd lobar hypoplasia. In Aicardi syndrome, the presence of glio-ependymal cysts and choroid plexus papillomas which suggest a hamartomatous growth is characteristic. We reviewed a variety of brain anomalies desecribed in literature and discussedt he pathologicalb ackgroundo f this syndrome

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We studied the relationship between corrected handedness and dysgraphia on 417 children of elementary school. The information of handedness was obtained through a questionnaire, and dysgraphia was detected by examining their compositions. They were divided into four groups. Children of group A were right-handed from infancy, group B left-handed in infancy but corrected to right-handedness, group C left-handedness from infancy, and group D right-handed in infancy but changed to left- handedness. Group C and D had higher incidences of mistakes in writing Japanese letters “kana” than groups A and B. This result suggested that dysgraphia at school age may be related to the disturbance of cerebral lateralization. It is importantto know whether the handedness was corrected in infancy when we examine patients with developmental dis-abilities.

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Tetrahydrobiopterin (natural form) was administered to an 8-year-old girl and her mother with hereditary progressive dystonia (HPD). High dose oral administration for 3 consecutive days was effective for their symptoms. The effects lasted for about 2 weeks. 5-hydroxytryptophan administration in addition to low dose of L-dopa showed the same effects on dystonia. These observations suggest that functional disturbances of not only dopaminergic neurons but also serotonergic neurons may play an important role in some cases of HPD.

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Thirty patients, aged 0 to 25 years, with paroxysmal disorders were examined by the routine EEG recording (R/EEG) and ambulatory EEG monitoring system (A/EEG). For the A/EEG, Oxford Medilog 9000 with 8 EEG channels was utilized. Of the 30 patients, recording rate of ictal EEG was 57% by the A/EEG and 13% by the R/EEG. Of 18 patients, who had not been accurately diagnosed by the R/EEG, six were confirmed to have epilepsy and six to have pseudoseizure by the A/EEG. For the six remainder new information was not obtained even by this method. The A/EEG was contributory to differentiating the partial epilepsy from the generalized epilepsy. The A/EEG also disclosed considerable variabilities in seizure activi-ties according to the different phases of the circadian cycle.
These results indicate that the A/EEG is a valuable method for the differential diagnosis of seizure states and evaluation for the therapy of epilepsy. Contrary to this usefulness, however, there is one disadvantage that it is difficult to distinguish sporadic spikes and focal spikes from spike-like artifact waves observed frequently in the A/EEG.

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The recent developmento f a new radiopharmaceutical ¹²³I-isopropyl-iodoamphetamine (IMP), which is taken up by the brain from the blood flow, has offered a possibility of constructing scintigraphy maps of regional cerebral blood flow (rCBF) using single photon emission CT. We used this method in various pediatricn eurologicald iseases.
Six patients with cerebro-vasculard isorders (moya-moyad isease2, infarction3 and HHE syndrome1), 6 patients with infectiousd iseaseso f CNS (acute encephalitis4, septic meningitis1 and SSPE 1) and a miscellaneous group of six patients were studied. The rCBF abnormalitiesi n cerebro-vasculard iseases were more extensive and frequent than x-ray CT abnormalities.R epeateds tudieso f IMP-SPECTr evealedu sefulness for the understandingo f changeableh emodynamicp athophysiologya nd for the judgment of theraptic effectivenessa nd prognosis.T he rCBF decrease in infectiousd iseasest ended to be more diffuse and slight than that in cerebro-vasculard iseases. In almost all patients, t he area of rCBF decrease coincidedw ith the area of EEG slowing evaluated by EEG topographic analysis.
Brain imaging using ¹²³I-IMPS PECT may reveal functional abnormalitiesa s well as organic lesions.¹²³I-IMPS PECT has introduceda new era for the useful applicationo f nuclearm edicinet o the investigation of pediatricn eurologicadl iseases.

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The clinical features and findings in biopsied sural nerves of 3 cases of Dejerine-Sottas disease were re-ported. All cases had delayed motor milestones from slight to moderate degrees. One case had swallowing and respiratory difficulties in the neonatal period. All cases had the Gowers sign. Two cases had ataxic gait without evidence of cerebellar signs. Superficial sensation was normal but deep sensation (especially of position) was imparied in lower extremities. Deep tendon reflexes were absent. Motor nerve conductionveloc-ity was severe delayed or could not be evoked. Histological examination of the sural nerve revealed a reduced density of both myelinated and unmyelinated fibers. Most characteristic finding was that hypomyelination was observed without myelin breakdown and axonal degeneration. Collagen pockets and denevated Schwann cell bands were not observed. Onion-bulbs were formed of different structures such as concentric whorls of Schwann cell processes and concentric lamellae of two parallel layers of the basement membrane in each case. It was suggested that these findings in the peripheral nerve might have reflected a defect in the Schwann cell function.

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To clarifyt he pathophysiologyo f sleep apnea and sudden death in severelyh andicappedc hildren, c linical, electrophysiologicaaln d radiologicali nvestigationsin cludingt he followinge xaminationsw ere carried out on 22 cases of the severely handicapped (12 males and 10 females) ranging from 3 to 15 years of age; EEG examinations including polygraphic all-night sleep EEG, ABR, MV, SSEP, electrically elicited blink reflex, and CT. In this study, the cases were classified into two groups ; those with more than 30 apneas over 10 seconds' duration during 7 hours' sleep (apnea group) and those with less than 30 apneas (control group). Two of 22 cases were classified into the apnea group. Both of them had mainly central apneas, and showed various findings suggesting the brain stem dysfunction. Decreases of both respiration and pulse rates were observed in both 2 apnea cases, but none of 19 control cases. Among 21 cases with REM sleep, REM density was less than 10 % in 8 cases. Decreased REM density was observed in both 2 apnea cases, one of which showed the lowest density of 2.8%. With ABR, 14 of 20 control cases showed normal responses and other 3 cases showed a delayed latency of the wave I, while one of apnea cases showed the disappearance of wave V and the other showed no response. The latter apnea case with no response in ABR was suggested to have the brain stem dysfunctionf rom the findings of abnormalityi n SSEP, MV, and electricallye licited blink reflex without otological abnormality in both ears. Electrically elicited blink reflex was abnormal in both 2 apnea cases, but in only 3 among 18 control cases. These findings suggested the specific brain stem lesions in the cases with frequent apneas.

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Electron microscopic observations on lymphocytes and skin tissues of 29 patients affected by neuronal ceroid-lipofuscinosis (NCL) revealedt he followingr esults.
In atypicalc ases with an intermediatec linicals pectrum betweenl ate infantilea nd juvenile NCL, characteristic lipopigmentsw ere observedi n lymphocytess howingf ingerprintp rofiles without vacuolation.T hese lipopigments were much different from those of late infantile and juvenile NCL. Clinical and morphological findings in these cases were consistent with those of early juvenile NCL proposed by Lake and Cavanagh.
Although EM findings of skin and lymphocytes were useful for the diagnosis, the former was not useful for subclassificationo f NCL.
On the other hand, lymphocyte ultrastructures correlate well with the subtypes of NCL ; granular matrix marks infantile NCL, curvilinear profiles marks late infantile NCL, fingerprint profiles without vacuolation marks early juvenile NCL and fingerprintp rofilesw ith vacuolationm arks juvenile NCL.

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A fifteen-month-old girl was admitted with recurrent vomiting, irritability and acute left hemiplegia. She then became somnolent, and showed hyperammonemia and liver dysfunction. Cranial CT scanning revealed widespread low density area of the right cerebral hemisphere and the right-to-left shift of the midline with brain edema. Reye syndrome was suspected by microvesicular fat-droplet deposition of the liver biopsy speci-men. But the results of her serum amino acid analysis and protein-loading test showed that she had ornithine transcarbamylase (OTC) deficiency. The etiology of hemiplegia remained to be proved in spite of cerebral angiography. Usually neurological symptoms of OTC defeciency are non-specific. There has been no such a report that the patient with OTC deficiency developed acute hemiplegia and showed widespread low density area of the cerebral hemisphere as in our case. This paper emphasizes the variability of neurological features of OTC deficiency.

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Recently, we experienced a case of holoprosencephaly with Dandy-Walker's cyst which was diagnosed accurately in utero at 30 weeks' gestational age by MRI. This case had been diagnosed as a fetal hydrocephalus at 29 weeks' gestational age by ultrasound. Holoprosencephaly is caused by failure of the development of the entire prosencephaly and it is associated with malformation of the telencephalon. MRI was thought to be more useful than ultrasound or whole body CT for evaluation of the hydrocephalic state in utero.

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A 12-year-old right-handed girl was reported, who suffered from renal failure and nephrotic syndrome in December 1983. She had right hemiconvulsion in April 1984. The CT scan showed low density in the left posterior subcortical white matter and the EEG demonstrated spike & wave complexes over the left parieto-occipital regions. Subsequently, she developed visual and auditory hallucinations, automatism, and higher cortical dysfunctions.
In December 1986, we evaluated her clinically and by various methods to clarify the extent of the lesions. Neurological and neuropsychological findings included Barre's sign, extinction phenomenon by double simultaneous stimulations on the right side, constructional apraxia, ideomotor apraxia, and simultanagnosia. Photic driving by single flash stimulation was seen in the left temporo-parieto-occipital regions. The SEP showed normal up to P24, but asymmetry was evident with absent N32 on the left side. The X-ray CT was normal, but MRI showed lesions in the left parieto-occipital subcortical white matter. IMP-SPECT demonstrated decreased regional cerebral blood flow in the left temporo-parieto-occipital area, which was larger than that seen in MRI.
These results seemed to explain the relationship between clinical findings and the brain lesions more clealy than before.

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[in Japanese]

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[in Japanese]

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[in Japanese]

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