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Three unrelated patients, one girl, one boy, and an adult female, aged 14, 11 and 41 years, respectively, at the time of biopsy, revealed lysosomal glycogen storage, autophagic vacuoles and peculiar globular inclusions of distinct ultrastructure, which were reducing but did not appear like true "reducing bodies" as described in the congenital myopathy "reducing body myopathy". All three patients had residual activity of acid alpha-glucosidase in their muscle biopsy samples. Leukocytes in the girl showed normal acid alpha-glucosidase activity, but in the boy activity was reduced. Molecular genetic analysis of the GAA gene revealed disease-causing mutations in each patient: H568L/R672W, IVS1-13T>G/G615F, and IVS1-13T>G/IVS1-13T>G. Although only one patient with such globular inclusions has been reported up to now, the three patients described here indicate that in the late-onset type of GSD II such inclusions may not be rare.

Unlabelled: The primary issues addressed in this study were: (1) determination of the significance of the classification "good outcome" utilizing the Glasgow Outcome Scale (GOS) in children at least 1 year after brain injury; (2) detection of residual lesions of brain parenchyma in these children upon follow up MRI scans; and (3) detection of relationships between neuropsychological test performance and MRI results. Selection criteria included children 6-15 years of age at the time of testing who received an initial CT scan at the time of their head injury and who had been injured at least 12 months prior to the follow up test. Only children who did not demonstrate neurological disability at the time of follow up examination were selected. The children showed a status of "good outcome" as defined by the GOS. Neurological examination, neuropsychological tests and an MRI were done. The test results of 59 patients were compared to those of a matched control group. Children, after receiving head injuries, showed significantly poorer results with respect to cognitive, motor and fine motor skills. Of all MRI-scans 66% revealed pathological findings. Cortical lesions were detected on MRI in 14% of cases; subcortical injuries were detected in 12% and, deep white matter lesions in 31%. Furthermore, corpus callosum damage was observed in 26% of cases. Pathological MRI findings were also observed in children with mild head injuries. All of the children with normal MRI findings showed abilities comparable to those of children in the control group. Patients with cortical lesions exhibited only motor deficits, whereas motor and cognitive deficits were seen in patients with deep white matter lesions. Children with multiple lesions demonstrated test results in all variables 1 to 2 standard deviations below those of the control group., Conclusion: Children suffering a brain injury who 1 year later are classified within the "good outcome" group according to the Glasgow Outcome Scale often have significant morphological and functional brain deficits.

We describe the long-term follow up of infants after neonatal stroke of the middle cerebral artery (MCA). Stroke was diagnosed by CT scan in eight full-term neonates. Three dimensional (volume) magnetic resonance angiography (MRA) is a noninvasive technique that images the arterial vessels without contrast agents. All patients, aged from 1.5 to 8.4 years, were investigated by MRI and MRA and by neuropsychological tests. Cognitive development was investigated by intelligence tests, tests of visual perception, motor and language development. Out of the eight patients, seven had a retarded mental and motor development, and 50% of the children were treated for epilepsy. Seven patients had a spastic hemiparesis. Seven out of eight children showed major cognitive deficits. In all patients, MRI revealed clear parenchymal defects with variable distribution patterns. MRA studies showed abnormalities corresponding to the expected vascular distribution. Children with complications at delivery, with seizures, and an interruption of the main stem of MCA as demonstrated on MRA had the least favourable long-term follow up prognosis with severe cognitive delays.

Hemimegalencephaly is associated with a poor clinical course characterized by intractable seizures and severe encephalopathy. We present a case report of a girl with hemimegalencephaly. At the age of 9 month hemispherectomy was undertaken to preserve function of the other hemisphere. MRI and histologic examinations showed characteristic dysplastic malformations. Follow-up and the complications are described.

Headache, nausea, ataxia and diplopia are leading symptoms of brain tumors in children. We report of 3 children with unusual symptoms and findings. Patient 1 complained of occasional headaches. Clinical examination showed neurological deficits and uveitis. Lumbar puncture revealed a pleocytosis and the oligoclonal banding study was positive. Cranial MRI demonstrated an enlarged pons. Under treatment with cortisone a clinical improvement was seen, but no change of the abnormalities in MRI. Several weeks later a biopsy was performed, which verified an astrozytoma. The second child developed a torticollis, following an accident, and later a refractory constipation was noted. A clinical evaluation was within normal limits. Several weeks later the patient complained of bladder disturbances. Patient 3 had a lateralized tic disorder without any neurologic deficits. CT showed an infratentorial tumor above the 4th ventricle. The tic disorder vanished only after the tumor was completely resected in the second operation. The reported cases demonstrate the fact that in an individual patient a brain tumor can cause unusual symptoms and findings which do not make the diagnosis obvious.

The clinical variability of pyridoxine dependent seizures is greater than mentioned in most textbooks. The seizures can start during the first days of life, or later during the first year. Frequently they are therapy-resistant, but seizure free periods of several weeks duration can be achieved with anticonvulsants in some patients. The response to the injection of pyridoxine can be delayed. A trial with daily oral administration of pyridoxine is often more suitable than a single injection.