Menkes Kinky Hair Disease Presenting with Pseudoperiodic Tonic Spasms during the Clinical Course

A case of Menkes kinky hair disease presenting with pseudoperiodic tonic spasms during the clinical course is described. The reported case had been treated by parenteral copper administration since 10 days of age. Although he gradually appeared to deteriorated mentally and developmentally and developed West syndrome at eight months of age, he had no convulsive seizures until four years of age. At four years of age, tonic spasms, which tended to be i.e. pseudoperiodic appeared. He had two types of tonic spasms, flexor spasms and extensor spasms. An ictal EEG also revealed different patterns, including diffuse desynchronization superimposed over the low voltage fast activities of during the flexor spasms and fast activities appeared only during extensor spasms. Both of these ictal events were dominantly in the left hemisphere on a EEG and each of the tonic spasms was easily controlled with phenytoin. The possibility must be entertained that the presented tonic spasms may have been partial seizures

Single Photon Emission Computed Tomography of Neonatal Periventricular Leukomalacia

We describe herein single photon emission computed tomography (SPECT) with 99mTc HM-PAO of a patient with neonatal cystic periventricular leukomalacia (PVL). The patient, who was a low birth weight infant of 27 weeks gestation weighing 1,290 g, had suffered from respiratory distress syndrome. Following surfactant replacement therapy, mechanical ventilation were carried out six days after birth. Serial cranial ultrasonography (US) showed periventricular high-echoic lesions followed by cyst formation at three weeks of age. Although cystic PVL was markedly observed on both cranial US and MRI, a SPECT study initially revealed no abnormal distribution of rCBF. A chronological SPECT study at nine months of age revealed decreased rCBF of 10% in the left hemisphere as compared to the contralateral side. At the time decreased rCBF was observed on SPECT, periventricular cyst formation tended to disappear on simultaneous MRI. It is known that PVL is an infarction which affects all the cellular elements of the white matter and may lead to abnormal myelination. SPECT studies may also useful to clarify the cerebral function in neonatal PVL

A Case of Congenital Cytomegalovirus Infection Presenting with Lissencephaly

We report here a case of congenital cytomegalovirus infection presenting with lissencephaly-pachygyria and the evaluation of neuroradiological studies of this case including ultrasonography, cranial computed tomography and magnetic resonance imaging. We propose that congenital cytomegalovirus infection during the early gestational period is one of the important causes of lissencephaly-pachygyria. Therefore, virological and immunological studies should be performed during the early neonatal period

Evaluation of Source Generators in Partial Seizures : Availability of Neuroradiological Images Superimposed on the Dipole Tracing

To clarify the anatomical localization of epileptic foci in childhood partial seizures, the source generators of interictal focal spikes were analyzed using a dipole tracing method and the effectiveness of a composite image diagnostic technique using neuroradiological images obtained by magnetic resonance imaging and single photon emission computed tomography was evaluated. The localization of electric source generators approximately reflects the abnormal lesions on neuroradiological images. However, the source generators tended to be located in the deep and/or peripheral parts of the abnormal regions. Even though systemic shifts in the position of optimal dipoles from their true positions is a limitation that must be taken into consideration, composite image diagnostic technique may be useful for evaluating the epileptogenic regions in partial seizures, and particularly, in children where noninvasive methods are preferable

High resolution replicas

Disclosed are improved methods for preparing high resolution replicas for electron microscopic analysis. Replicas are prepared having a resolution capability less than ten angstroms, with structures of even less than five angstroms being readily discernible. Particular aspects of the invention concern the use of a platinum/carbon evaporant to prepare extremely thin replica surfaces which allow the visualization of structures heretofore unresolvable. The replication is performed at high vacuum, on the order of 10.sup.-5 Torr or better, with continuous rotation of the sample to allow for an even distribution of the evaporant. The resultant replica surfaces are on the order of no more than 5 to 10 angstroms thick. The replica technology disclosed herein is applicable to both biological as well as non-biological samples, including tissues, biochemicals, metals and polymers and even computer chips and superconductor surfaces.Board of Regents, University of Texas Syste

Complex Partial Seizures Evolving into Periodic Spasms

A case of complex partial seizures evolving into periodic spasms is described. A six-month-old boy was referred to us because of complex partial seizures characterized by impairment of consciousness followed by adversion of the eyes and face associated with asymmetric tonic neck reflex-like postures. Interictal electroencephalography (EEG) on admission revealed multiple independent spike foci and clusters of the fast activities, which tended to be pseudoperiodic, during sleep. Ictal EEG showed irregular high voltage slow waves in the left hemisphere which gradually developed into diffuse slow waves followed by periodic sharp and/or slow waves associated with periodic spasms every two or five seconds. He had mild hemiparesis in the right upper limb. Otherwise his development of gross movement was normal. His seizures occurred frequently during the waking state, but sodium valproate was effective. In West syndrome, it is well known that epileptic seizures are characterized by a series of spasms. However, few patients with partial seizures in infancy have been reported to have periodic spasms