Article abstract-We identified nine children with a leukoencephalopathy of similar type according to clinical and MRI findings. The patients included three affected sibling pairs. The age range was 3 to 19 years. The onset of the disease was in childhood; the course was both chronic-progressive and episodic, There were episodes of deterioration following infections and minor head traumas, and these could result in unexplained coma. In eight patients with advanced disease, MRI revealed a diffuse cerebral hemispheric leukoencephalopathy, in which increasing areas of the abnormal white matter had a signal intensity close to that of CSF on all pulse sequences. In one patient in the early stages of disease, initial MRI showed diffusely abnormal cerebral white matter, which only reached the signal characteristics of CSF at a later stage. In the patients in whom the disease was advanced, magnetic resonance spectroscopy (MRS) of the white matter showed an almost complete disappearance of all normal signals and the presence of glucose and lactate, compatible with the presence of mainly CSF and little brain tissue. Spectra of the cortex were much better preserved. However, in addition to the normal resonances, there were signals representing lactate and glucose. MRS of the white matter in the patient whose disease was at an early stage was much less abnormal. Autopsy in one patient confirmed the presence of extensive cystic degeneration of the cerebral white matter with reactive change and a preserved cortex. Typical involve ment of pontine tegmental white matter was suggested by MRI and confirmed by autopsy. The disease probably has an autosomal recessive mode of inheritance, but the basic metabolic defect is not known. NEUROLOGY 1997;48:845-855 There is a growing number of progressive encepha lopathies identified and defined by enzyme defect, gene defect, or both.1 MRI has contributed consider ably to the detection of leukoencephalopathies,2 but a significant proportion remains unclassified.3 In some cases, MRI and magnetic resonance spectroscopy (MRS) findings are sufficiently distinct to be used as criteria for a classifying diagnosis.4As part of an ongoing study of unclassified leu koencephalopathies, we identified nine patients with a distinct disorder, as defined by clinical and MRI criteria. We describe the clinical picture, metabolic investigations, and neurophysiologic studies, as well as MRI, MRS, and autopsy findings, and provide criteria for the diagnosis. Proton ^H) MRS was performed in five patients (pa tients 3, 4, 5, 7, and 9) with the standard imaging head coil. We used single-voxel spectroscopy in order to achieve a high-quality assessment of the neurochemical composi tion of white matter versus cortex. A 2 X 2 X 2 cm3 voxel was chosen in the mid-occipital area, containing mainly occipital cortex of both hemispheres and some white mat ter and CSF. Another voxel of 2 X 2 X 2 cm3 was chosen in the parieto-occipital area, containing white matter and, at most, some ventricular CSF. The spectra were acqui...

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The results of re-operation of 15 patients with spina bifida aperta are reported. The operation was necessary because of neurological deterioration with increasing motor and bladder dysfunction. In all patients a tethered cord syndrome was present (CT-myelography). The myelum was adherent to the scar of the myelomeningocele repair. At operation the myelum is released from the adherent scar and in this way untethered. The early complications were mild except for one patient with decompensation of hydrocephalus. The aim of the operation was to stop further progression. The results of the operation were satisfactory with stabilisation of motor function in four patients and improvement of motor dysfunction in ten patients. Backache or fixation, bladder dysfunction and abnormal foot shape improved in some of the patients. In our experience the operative untethering procedure was useful. Intensive neurological control of operated spina bifida aperta patients is mandatory especially in those patients who can walk.

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The results of tethered spinal cord operations in 42 patients were evaluated. Over a period of 10 years, 20 spina bifida occulta (S.B.O.) and 22 spina bifida aperta (S.B.A.) patients were operated. In the S.B.O. group 6 patients were operated when young in order to prevent neurological deterioration. With a mean follow-up of 3 years they developed no new neurological symptoms. The clinical symptoms and the age at which the neurological deterioration occurred was quite similar in the S.B.O. and S.B.A. patients. Motor dysfunction and pain in back and/or legs were the most frequent symptoms. The postoperative complication rate was low. The purpose of surgery was to stop further neurological deterioration. The operative results were slightly better in the S.B.A. group than with the S.B.O. group. In both groups of patients it was evident that operation at an older age after a long period of complaints was associated with less favourable postoperative results. The surgical treatment of a tethered spinal cord syndrome in patients with spina bifida aperta is no more risk than an operation in spina bifida occulta patients.