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C Navarro

Publications and source records attributed to C Navarro.

255 records · Page 15Linked to original sources

[Muscular biopsy in ceroid lipofuscinosis: 3 case reports of juvenile form].

Ceroid lipofuscinosis (CLF) is a progressive hereditary neurodegenerative disease characterised by deposits in the central nervous system and other tissues of ceroid lipopigment. Symptomatology and clinical course of the disease are heterogeneous and up to ten types have been distinguished, although the most frequent and best known are the Santavuori-Haltia infantile form, the Jansky-Bielschowsky late infantile form, the Spielmeyer-Vogt juvenile form and the Kufs adult form. We present here three cases diagnosed as having juvenile ceroid lipofuscinosis by means of muscular biopsy. Although morphological and ultrastructural findings in CLF have already been described in literature, the use of muscular biopsy as a means of diagnosis is not usual and its usefulness is not very well known. For this reason, we especially recommend this method for its simplicity and diagnostic specificity.

Adolescent↗

Isolated progressive muscle weakness with tubular aggregates.

We report 2 isolated cases of slowly progressive muscle weakness in which tubular aggregates in muscle biopsy were found as the major pathological feature. Tubular aggregates were present in both types of fibers. Electron microscopy revealed the accumulation of double-walled tubular structures in dense subsarcolemmal locations or in smaller amounts within the myofibrils, close to cytoplasmic organelles. Myopathy with tubular aggregates is believed to form a distinct clinico-pathological entity with 3 well-distinguished clinical groups. The cases reported herein would fall into the group of sporadic isolated progressive muscle weakness of which only 3 other cases have been previously described.

Adult↗