SummaryWe, for the first time, used functional neuroimaging analyses for a girl with early myoclonic encephalopathy (EME). The interictal single photon emission computed tomography (SPECT) and [18F]‐fluoro‐d‐deoxyglucose positron emission tomography (FDG‐PET) at 1 month of age showed hypoperfusion and hypometabolism of bilateral basal ganglia, thalami, and the right parietooccipital cerebral cortices, showing that there is profound dysfunction of the basal ganglia and thalamus as well as cerebral cortex. On the other hand, subtraction ictal SPECT of tonic spasms clearly showed hyperperfusion of the bilateral basal ganglia, thalami, brainstem, and deep cortical layer of bilateral frontoparietal cortices. The present study suggests that functional deafferentation of the cortex from subcortical structures exists in EME, and that these imaging abnormalities may provide insight into the pathophysiology of suppression‐burst pattern in EME.

We report on two patients with congenital cytomegalovirus (CMV) infection asymptomatic at birth that was diagnosed retrospectively by polymerase chain reaction (PCR) of CMV DNA using blood stored on Guthrie cards. Neuroimaging studies showed abnormal myelination without any gray matter abnormalities. In the differential diagnosis of patients with abnormal white matter lesions and sensorineural hearing loss, one should consider congenital CMV infection. When investigating the etiology of patients with behavioral problems, migrational disorder, or white matter disease, PCR analysis of CMV DNA using blood stored on Guthrie cards might be helpful.

To clarify the pathophysiology of tonic spasms, 21 patients with West syndrome were analyzed using ictal and interictal single photon emission computed tomography (SPECT). We focused on whether ictal perfusion changes were observed in the focal cortical region. Eight of the patients studied showed definite focal cortical ictal hyperperfusion, indicating that there is a unique subset of West syndrome that can be classified as infantile localization-related epilepsy. Of those eight patients, only two showed asymmetric spasms, suggesting that seizure symptomatology in infants gives only limited information on the localization-related nature of epilepsy. Furthermore, the activation of subcortical structures by focal cortical regions might be attributable to the symmetric seizure phenomena. Thirteen patients showed a diffuse pattern in their ictal SPECTs; this probably included patients with diffuse hyperperfusion and those with no changes. The following have yet to be determined: (1) whether West syndrome is divided into subgroups based on the origin of spasms, in that some patients have the origin in the cortical hemisphere and some have the origin in structures other than the cortical hemisphere, such as the brain stem; (2) whether differences in ictal SPECT patterns reflect a unique nature of tonic spasms in West syndrome, where tonic spasms appear in clusters and the interval of each spasm is different among each patient.

We used interictal single photon emission computed tomography (SPECT) on 40 patients with West syndrome to determine whether cortical perfusion abnormalities are closely related to the development of West syndrome and whether they are correlated with the long-term seizure prognosis or the developmental outcome. Localized cortical perfusion abnormalities were seen in 24 patients (60%), while 15 patients (38%) were classified as normal. The remaining patient showed hyperperfusion of the basal ganglia bilaterally. Of 24 patients with localized perfusion abnormalities, unifocal cortical hypoperfusion was present in 11, multifocal hypoperfusion in 10, multiple cortical hypo- and hyperperfusion in one, hyperperfusion of the bilateral frontal cortices and brain stem in one, and focal hyperperfusion in the residual frontal cortex in one. For statistical analysis, we focused on 26 patients (cryptogenic; 10, symptomatic; 16), who were followed for more than 2 years after the onset of tonic spasms (mean 5.0 years). The results showed that focal cortical perfusion abnormalities were not correlated with the long-term seizure prognosis, the developmental outcome, or the response to ACTH therapy. In agreement with previous reports, the results of interictal SPECT suggested that focal cortical lesions play an important role in the development of West syndrome. However, statistical analysis showed that the existence of cortical dysfunction as defined by SPECT did not predict the seizure prognosis or the developmental outcome.

We report on a 3-year-old girl with West syndrome and with focal hypsarrhythmia. The left hemisphere of the patient was virtually completely defective and continuous hypsarrhythmia was only seen in the residual right frontal cortex, where an interictal single photon emission computed tomography (SPECT) showed hyperperfusion. Despite a focal epileptic pattern, the tonic spasms were quite symmetrical. In our patient, spasms might not require the sensorimotor cortex, but the brainstem containing the descending pathways that control spinal reflexes and other infratentorial structures seem to be essential for the occurrence of spasms. This is in accordance with the result of an ictal SPECT that showed hyperperfusion of the brainstem and cerebellum. These findings suggest that hypsarrhythmia originates from cortical lesions, while subcortical structures may be primarily responsible for the tonic spasms in this patient.

We evaluated the ictal and interictal single photon emission computed tomography (SPECT) of 9 patients with West syndrome (WS). In this group, we noted two clear patterns of cortical hyperperfusion and subcortical hyperperfusion in the ictal SPECT. Both patterns were different from the previously documented ictal patterns for complex partial seizures (CPS) or secondarily generalized seizures. Our results suggest that the tonic spasms of WS do not always have a single neurophysiological basis; e.g., patients with hemihypsarrhythmia and focal hypsarrhythmia did not show ictal hyperperfusion of the lesion with hypsarrhythmia. These findings indicate that the origin of hypsarrhythmia as an EEG feature and the origin of tonic spasms may be different in such patients. In particular, hypsarrhythmia appears to originate from cortical lesions, whereas the subcortical structures may be primarily responsible for the tonic spasms. Our report is the first published study of ictal SPECT in patients with WS.

OBJECTIVE:MR and CT findings in two patients of Tay-Sachs disease are reported. MATERIALS AND METHODS:In two patients of Tay-Sachs disease, MR and CT studies were conducted in the early phase (11 and 10 months of age, respectively) and one was followed-up with MR in the late phase at the age of 5 years and 8 months. Six MR studies on this disease (including 3 other cases documented in the literature) were reviewed and correlated with the pathological phases of this disease. RESULTS:MRI findings drastically changed during the phases of disease process in one case. In the early phase, T2-weighted MR images demonstrated hyperintensity in both basal ganglia and thalamus. MR images obtained in the late phase demonstrated markedly advanced brain atrophy and diffuse white matter lesions, which were hyperintense on the T2-weighted images. T1-weighted images exhibited hyperintensity in the basal ganglia, thalamus, and along the cortical layer of the cerebrum, which appeared to by hypointense on T2-weighted images. CONCLUSION:MR was apparently superior to CT in clearly delineating lesions of this disease. These abnormal signal intensities in the late phase may reflect the pathological findings, marked accumulation of GM2 ganglioside in the basal ganglia and thalamus and along the cerebral gray matter.

Summary: Seventeen infants (7 boys and 10 girls) with visual abnormalities (such as poor tracking and following and nystagmoid eye movement) and occipital slow activities with irregular polyspikes on EEG were studied. Two thirds of the children showed development of West syndrome with hypsarrhythmia on follow‐up EEG. In 1 child, hypsarrhythmia was evident on the follow‐up EEG, but no clinical seizures occurred. Because most of the children in our series developed West syndrome, patients with visual abnormalities associated with occipital EEG discharges in early infancy may be at high risk for West syndrome. Occipital abnormalities in early infancy may relate to the occurrence of West syndrome.

Psychiatry and Clinical NeurosciencesVolume 46, Issue 2 p. 484-486 Electroencephalogram and Clinical Neurophysiology: Event Related Potentials Evoked by Pure Tone and Linguistic Stimulation in Epileptic Children Kimiya Kon M.D., Kimiya Kon M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorMayumi Nagai M.D., Mayumi Nagai M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorYasushi Yoshihara M.D., Yasushi Yoshihara M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorRitsuko Takahashi M.D., Ritsuko Takahashi M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorTsuneo Yagi M.D., Tsuneo Yagi M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorKoichiro Ike M.D., Koichiro Ike M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorKazuhiro Haginoya M.D., Kazuhiro Haginoya M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorKazuie Iinuma M.D., Kazuie Iinuma M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this author Kimiya Kon M.D., Kimiya Kon M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorMayumi Nagai M.D., Mayumi Nagai M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorYasushi Yoshihara M.D., Yasushi Yoshihara M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorRitsuko Takahashi M.D., Ritsuko Takahashi M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorTsuneo Yagi M.D., Tsuneo Yagi M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorKoichiro Ike M.D., Koichiro Ike M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorKazuhiro Haginoya M.D., Kazuhiro Haginoya M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this authorKazuie Iinuma M.D., Kazuie Iinuma M.D. Department of Pediatrics, Tohoku University School of Medicine, SendaiSearch for more papers by this author First published: June 1992 https://doi.org/10.1111/j.1440-1819.1992.tb00909.xAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume46, Issue2June 1992Pages 484-486 RelatedInformation