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Four neonatal deaths in one family were due to X-linked myotubular myopathy. The characteristic alterations in muscle, described in three cases, are marked fiber hypotrophy, size variability, and the presence of internal nuclei or pale areas. The diagnosis can be verified only by obtaining a careful genetic history. Previous occurrence of male neonatal… (More)
A case is reported in which psammoma bodies were present in a cervico-vaginal smear. No malignancy was found upon hysterectomy. Both this case and a review of the literature emphasize the non-specificity of psammoma bodies in the diagnosis of malignancies.
SUMMARY This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this… (More)