Neuropediatrics 2018; 49(S 01): S1-S12
DOI: 10.1055/s-0038-1653922
Oral Communications
Georg Thieme Verlag KG Stuttgart · New York

Skin Biopsy in Ceroid Lipofuscinosis

A. Bernabe Gelot
1   Neuropathologie, Hôpital Trousseau, Paris, France
,
A. Scmitt
3   Plate-forme de Microscopie Électronique Institut Cochin INSERM U 1016, Paris, France
,
C. Caillaud
4   Biochimie Métabolomique et Protéomique Département de Biologie, Hôpital Necker-Enfants Malades, Paris, France
› Author Affiliations
Further Information

Publication History

Publication Date:
27 April 2018 (online)

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    Introduction: We present a retrospective study of the skin biopsies analyzed in our laboratory during the past 15 years. We compared ultrastructural and genetic data for the biopsies displaying positive ceroid lipofuscinosis (CLN) features.

    Results: We found 95 positive skin biopsies, that is, displaying either curvilinear bodies (CBV), fingerprints (FP) or GRODS.

    CVB represented the prominent population (> 50%), isolated or in association with FP and occurred respectively in CLN2 and CLN7 mutations.

    Conversely, CLN2, CLN6, and CLN7 mutations represented the most frequent mutations in our population.

    The CBV+FP lesions are the ones with the higher probability of having a CLN genetic definition, while FPs and GRODs remained poorly genetically defined.

    Conclusion: Our study highlights the essential complementarity between the morphological and the genetic approach for the CLN diagnosis elaboration, in terms of results but also the orientation of genetic analyses.


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    No conflict of interest has been declared by the author(s).