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In this study we present a patient with Canavan disease or Van Bogaert and Bertrand type of spongiform leukodystrophy, proven by brain biopsy. We performed morphological studies and biochemical assays on fresh homogenates of the grey and white matter. Quantitative neuromorphological analysis of the cortex showed normal values except for poor dendritic arborization of the inner layers. No signs of neuronal damage were observed. The Na-K-ATPase activity was increased. Pyruvate and ketone bodies oxidation rates and the activity of cytochrome-c oxidase were normal. We conclude that there is neither a primary neuronal damage nor a primary mitochondrial dysfunction in the oxidative processes despite the abnormal morphology of mitochondria in this disease.

The results of a qualitative and quantitative neuromorphological and a biochemical analysis of a brain biopsy from a 7-year-old boy with an idiopathic type of Lennox-Gastaut syndrome (LGS) are reported. A disturbance in cerebral energy metabolism as expressed by the pyruvate pathway could be ruled out. Degenerative or ischemic lesions were not found. However, while the outer layers of the cortex were morphologically normal, the neurons of the inner layers (V and VI) showed a poor dendritic arborization and a diminished number of spines, which can be considered the basis of excessive excitability which in turn may further impair brain development. Thus, the neuromorphological findings suggest a causal rather then a consequential relation to LGS.

A patient had the clinical and neuropathologic signs of Lafora's disease. Skin biopsy specimens from the midcalf area confirmed earlier findings by showing numerous periodic acid-Schiff-positive inclusion bodies in eccrine sweat gland duct cells. In our patient, however, inclusion bodies were more abundantly present in the apocrine sweat gland duct cells of the axilla skin. In brain biopsy specimens and autopsy material the same periodic acid-Schiff-positive inclusion bodies were found. From these data it can be stated that skin biopsy of the axilla is the method of first choice in confirming the diagnosis.