3 siblings with symmetrical calcifications in the strio-pallido-dentate system are described. Parathyroid function was normal and there were no signs of central or peripheral myelinopathy. This is the 9th family reported with autosomal recessive idiopathic strio-pallido-dentate calcinosis and the first to be investigated by computerized tomography (CT). CT scans appeared to be superior to plain skull radiograms to assess the localization and the extent of the calcifications in vivo. The calcifications were the least extensive in the youngest and the most extensive in the eldest. It is suggested that the calcifying process is a progressive disorder. It seems to start in the dentate nuclei and pons, and subsequently extends to the basal ganglia and to the radiation of the corpus callosum.
SUMMARY fl-glucuronidase deficiency is an extremely rare disorder which is known to have a considerable phenotypic variation. A survey of the clinical findings in 19 previously reported patients with mucopolysaccharidosis VII is presented together with the results of clinical and biochemical studies in two further patients. Because a similar clinical picture is present in a heterozygotic sister it is doubted whether all signs and symptoms can be attributed to the P-glucuronidase deficiency.The probability of a concomitant disorder is discussed. Diagnosis was made both by demonstration of the deficiency in plasma and leucocytes, and by means of hair root analysis. The phenotypic variation and the fact that increased levels of glycosaminoglycans were not found in the urine of the two patients lead to the suggestion that in certain cases a correct diagnosis may be missed if the fl-glucuronidase activity in plasma and leucocytes is not determined and only routine urine investigation is performed as a screening for a mucopolysaccharidosis. Hair root analysis may be a useful method to measure the,-glucuronidase activity.
A. Involvement of sural nerve in neuronal ceroid-lipofuscinoses. Neuropadiatrie Band 3:98-110(1973). Findings in sural nerve biopsies in two patients with neuronal ceroid lipofuscinosis are described. In Schwann-cells and in smooth muscle cells of vessels curvilinear-and fingerprintmaterial were demonstrated. The report discusses the significance of these findings. The clinical findings were in agreement with a diagnosis of late infantile and juvenile type respectively. Ultrastructurally there were signs of transitions between the two types of inclusion. The place of sural nerve biopsy in the range of diagnostic procedures in progressive neurological diseases in discussed.Batten's disease ceroid-lipofuscinoses curvilinear bodies fingerprintmaterial sural nerve biopsy
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