Human herpes virus type-6 is associated with central nervous system infections in children in Sudan,

We report the case of an asymptomatic 2-month-old infant with 6-pyruvoyltetrahydropterin synthetase deficiency detected through a neonatal phenylketonuria screening program. MR imaging revealed symmetrical lesions in the central tegmental tract with reduced diffusion, which resolved after treatment. A possible explanation for these lesions is intramyelinic edema resulting from brain insults in utero.

Medullary streaks are linear structures on MRI crossing the white matter of the brain, which can be observed in aging brain or patients with moyamoya disease.1 The increases in medullary streak diameter that accompany advancing age coincide with, and are thought to represent, age-related enlargement of fluid-filled perivascular spaces that have been shown by histology to accompany senile brain atrophy.2 On the other hand, medullary streaks in moyamoya disease are speculatively considered to represent compensatorily dilated medullary vessels rather than the perivascular spaces.1 In this report, we demonstrate contrast enhancement of the medullary streaks in two patients with severe chronic cerebral ischemia (advanced moyamoya disease and progeria syndrome), which supports this hypothesis. We also propose that the medullary streaks and the ivy sign (leptomeningeal enhancement on postcontrast T1-weighted images or hyperintensity on fluid-attenuated inversion recovery [FLAIR] images)3 in ischemic …

Objective: To assess alterations in brain metabolites of patients with Pelizaeus–Merzbacher disease (PMD) with the proteolipid protein gene 1 (PLP1) duplications using quantitative proton MRS. Methods: Five unrelated male Japanese patients with PMD with PLP1 duplications were analyzed using automated proton brain examination with the point resolved spectroscopy technique (repetition and echo time of 5,000 and 30 msec). Localized spectra in the posterior portion of the centrum semiovale were acquired, and absolute metabolite concentrations were calculated using the LCModel. Results: Absolute concentrations of N-acetylaspartate (NAA), creatine (Cr), and myoinositol (MI) were increased by 16% (p < 0.01), 43% (p < 0.001), and 31% (p < 0.01) in patients with PMD as compared with age-matched controls. There was no statistical difference in choline concentration. Conclusion: The increased concentration of NAA, which could not be detected by previous relative quantitation methods, suggests two possibilities: axonal involvement secondary to dysmyelination, or increased cell population of oligodendrocyte progenitors. Elevated Cr and MI concentrations may reflect the reactive astrocytic gliosis. Our study thus emphasizes the importance of absolute quantitation of metabolites to investigate the disease mechanism of the dysmyelinating disorders of the CNS.

OBJECTIVE:To assess alterations in brain metabolites in patients with late-onset ornithine transcarbamylase deficiency (OTCD).METHODS:Six unrelated, asymptomatic Japanese late-onset OTCD patients were analyzed by proton MRS ((1)HMRS) using a point-resolved spectroscopy technique (repetition and echo times, 5000 and 30 ms). Localized spectra for the centrum semiovale were acquired and absolute metabolite concentrations were calculated using an LCModel.RESULTS:Compared with age-matched controls, N-acetylaspartate and creatine concentrations were normal in all patients. The glutamine (Gln) plus glutamate concentration was increased in four patients, which progressed in proportion to the clinical stage. myo-inositol (mI) could not be detected in five symptomatic patients. A decreased choline (Cho) concentration was detected in two clinically severe patients. (1)HMRS after liver transplantation in one patient revealed the normalization of all metabolites.CONCLUSION:These findings suggest progression of neurochemical events in OTCD, i.e., mI depletion and Gln accumulation followed by Cho depletion, which is reverse of that in hepatic encephalopathy, i.e., Cho depletion followed by mI depletion and Gln accumulation.

We reported four children cases with reversible posterior leukoencephalopathy syndrome (RPLS). Magnetic resonance imaging (MRI) of the brain demonstrated reversible multiple cortical and subcortical lesions predominant in the occipital region. All patients presented with neurological symptoms associated with hypertension, such as headache, seizures and visual disturbances, which were successfully treated with antihypertensive therapy. Although RPLS is rare in childhood, characteristic lesions on MRI in the hypertensive children should be recognized as manifestations of RPLS. Subsequent clinical management should focus on the treatment of the hypertension and/or its underlying causes.

We report here clinical and MRI findings of four children with idiopathic intracranial hypertension (IIH). Their chief complaint was headache. Three patients had papilloedema, and the other one showed the highest cerebrospinal fluid pressure (106 cm H2O) without papilloedema. In two cases, the symptoms disappeared after repeated lumbar punctures. At admission, MRI demonstrated empty sella in all the four cases. Regarding the optic nerves, there were more than two of the following three findings: distension of the perioptic subarachnoid space, vertical tortuosity and elongation of the optic nerve, and flattening of the posterior aspect of the globe. Follow-up MRI showed normalization of sella turtica and/or optic nerve findings in two of the three cases examined. MRI focusing on the optic nerves and pituitary gland may provide important clues for the diagnosis of IIH, especially those without papilloedema.

We retrospectively studied 18 patients with West syndrome treated with ACTH according to Fukuyama's method. ACTH was given daily for the first 2 weeks, once every other day for the 3rd and 4th weeks, twice for the 5th and 6th weeks, and once a week for the 7th and 8th weeks. The patients were classified into two groups; group 1 (n = 9), in which Fukuyama's method was competed by a total of 27 injections; and group 2 (n = 9), in which Fukuyama's method was discontinued due to its adverse effects. In group 2, the duration of ACTH therapy was 15 days on average, and shorter than that in group 1. Between the two groups, there was no significant difference in the control rate of clinical seizures, and in the duration of therapy to attain seizure control (6 to 8 days on average). These results suggest that the tapering period is unnecessary after the cessation of spasms.

A 7-year-old boy with acute encephalitis was proved to have Coxiella burnetii infection. Cerebrospinal fluid but not serum had elevated values of interleukins 1-beta and 6, but not of tumor necrosis factor.

We examined photoparoxysmal responses (PPRs) elicited by half-field visual stimulation with deep-red flicker light to determine the neurophysiological features of photosensitive epilepsy (PSE). EEG revealed two types of PPRs. One had the focal spike in the occipital region and the other in the temporo-occipital region at the contralateral hemisphere. The equivalent current dipoles of these types were located at the occipital cortex and the inferior temporal (IT) cortex, respectively. These cortices comprise one of the main pathways in the visual system, and they play important roles in color discrimination. Thus, we propose that the visual system, especially the occipital cortex and the IT cortex, might be involved in the generator mechanism of PSE.