Search

We investigated a five-year-old girl suffering from genetically confirmed, action-induced myoclonus-dystonia (M-D) with functional magnetic resonance imaging (MRI). We compared the activation pattern by movements of her right hand as if drawing a picture, which elicited M-D, with simple snapping movements (without overt M-D). The drawing and snapping conditions resulted in activation of a motor network including the motor cortex, the putamen, and the cerebellar hemispheres. The direct comparison of the drawing condition with snapping as control revealed specific activations within the thalamus and the dentate nucleus. An age matched healthy control did not show significant activation within the thalamus or dentate nucleus.

We report the unusual occurrence of progressive megalencephaly and dilated periventricular cystic Virchow-Robin spaces on magnetic resonance imaging in two siblings of a Turkish family. Both affected children in addition presented with psychomotor retardation. Since the index patients were of different gender and their parents were consanguineous, this constellation of findings is suggestive of an autosomal recessive trait.

Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations in the gene encoding glial fibrillary acidic protein (GFAP) have been demonstrated to be associated with AD. We used localized proton magnetic resonance spectroscopy (MRS) to assess metabolic abnormalities in grey and white matter, basal ganglia, and cerebellum of 4 patients with infantile AD and GFAP mutations. Strongly elevated concentrations of myo-inositol in conjunction with normal or increased choline-containing compounds in all regions investigated point to astrocytosis and demyelination. Neuroaxonal degeneration, as reflected by a reduction of N-acetylaspartate, was most pronounced in cerebral and cerebellar white matter. The accumulation of lactate in affected white matter is in line with infiltrating macrophages. Metabolic alterations demonstrated by in vivo proton MRS are in excellent agreement with known neuropathological features of AD.

Multiphasic disseminated encephalomyelitis (MDEM) is a rare peculiar diagnosis which is defined as acute demyelinating central nervous system disease with relapses occurring only within 4 weeks of initial manifestation. This report describes the case of a 6-year-old boy with MDEM diagnosed by clinical findings and magnetic resonance imaging. The disease had a biphasic evolution, and with a second course of high-dose corticosteroids a complete recovery without further relapse was obtained during the following 18 months. Serological evidence of streptococcal infection as specific trigger for MDEM was given. Thus this report raises the question whether an additional penicillin prophylaxis could be valuable for prevention of streptococcus-associated MDEM relapses.

The late-onset form of GM2 gangliosidosis (Tay-Sachs disease) is an autosomal-recessive disorder with progressive neurologic disease, mainly characterized by motor neuron and spinocerebellar dysfunction. The majority of patients are of Ashkenazi Jewish origin. 31Phosphorus magnetic resonance spectroscopy of the brain was performed to study the metabolic changes of a 16-year-old patient with late-onset Tay-Sachs disease who had a heterozygous Gly269-->Ser mutation in the hexosaminidase A encoding gene in compound heterozygosity with another, yet unidentified mutation. Severe changes in phosphorus metabolism with a decreased amount of phosphodiesters and membrane-bound phosphates were demonstrated, suggesting an activation of phosphodiesterases by accumulating gangliosides. The clinical findings were well related to the changes in spectroscopically determined metabolites.

Clinical presentation of a child with port-wine stain and seizures leads to the suspicion of Sturge-Weber disease (SWD). This diagnosis can be confirmed by the detection of a meningeal angiomatosis. In rare cases, early detection of meningeal pathology by ultrasound has been reported. Key findings are brain atrophy, gyriform cortical calcifications demonstrated by skull radiographs after the first year of life or earlier by cranial CT, and dys- or aplasia of the deep cerebral veins on angiography. Radionuclide imaging shows focal or diffuse tracer accumulation over the affected brain regions. MR demonstrates an abnormal appearance of the affected meninges, especially thickening and pathologically increased signal intensity after Gd-DTPA application. This, in association with the demonstration of abnormal enhancement in deep medullary veins, is the most characteristic finding. Contrast-enhanced MR allows early and non-invasive diagnosis of SWD, mainly by revealing leptomeningeal angiomatosis and abnormal venous vessels.

In one baby and 2 infants who presented with psychomotor retardation and epilepsy laminar heterotopic grey matter was demonstrated via magnetic resonance imaging. Laminar heterotopia is a rare migrational disorder with bilateral symmetric ribbons of grey matter within the centrum semiovale, separated from ventricular walls and from obviously normal-sized cortex by broad layers of white matter. The heterotopic grey matter has a signal intensity which is isointense compared with that of normal cortex irrespective of image weighting. On account of this signal behaviour differentiation against other white matter diseases is easy. The knowledge of these pathognomonic findings facilitates correct diagnosis, especially during the first and the second year of life, when signal intensities of white and grey matter differ from normal findings because of the occasionally delayed myelination process. Therefore, further diagnostic procedures can be avoided and early counseling of parents is possible.

Adrenoleucodystrophy (ALD) is an uncommon, sex-linked disease, characterised by the accumulation of very long-chain fatty acids in various tissues. There is a great predilection for young boys between the age of three and ten years. The disease ends fatally after a clinical course of several years. The clinical and MR findings of a child with typical ALD are presented. T2-weighted MR demonstrates confluent, symmetrical, hyperintense lesions of the occipital white matter bilaterally. After the application of Gd-DTPA, contrast enhancement is seen in the margins of the lesions indicating active demyelination. MR is recommended as imaging modality of choice in patients with suspected or confirmed diagnosis of adrenoleucodystrophy.

Unlabelled: Varicella-related neurological complications usually appear after the rash. Pre-eruptive neurological complications of primary varicella zoster virus infections have been rarely described. We report on a 5.5-year-old boy who developed encephalitis 4 days before the onset of a mild vesicular skin rash and 5 days after known exposure. Primary varicella zoster virus infection was confirmed serologically. Cranial magnetic resonance imaging revealed temporary inflammatory oedema in the right cerebellar peduncle.Conclusion: Neurological complications of varicella may appear up to 2.5 weeks before the onset of the exanthema. Physicians treating patients with ataxia or encephalitis should inquire about exposure to varicella zoster virus. [ABSTRACT FROM AUTHOR]