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Case Reports
. 2008 Dec 1;146A(23):3100-3.
doi: 10.1002/ajmg.a.32569.

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

Despina Contopoulos-Ioannidis  1 , Athanasios Evangeliou, Henk ter Laak, Bert de Vries, Rolph Pfundt, Hans Scheffer, Jan Smeitink, Meropi Tzoufi, Alexandros Makis, Evangelos Marinos, Richard Hess, David Adams, Marjan Huizing, Eva Morava
Affiliations
Case Reports

Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency

Despina Contopoulos-Ioannidis et al. Am J Med Genet A. .
No abstract available

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Figures

Figure 1
Figure 1
A: Image of our patient with oculocutaneous albinism (white skin and hair; eyebrows with slight brown pigmentation; few melanocytic nevi). B: Platelets electron micrograph (magnification X7000), with absent dense bodies and uniform cytoplasm, without membranous inclusions in the majority of the platelets (long arrows). C: Enlarged image of platelets subpopulation corresponding to right long arrow of Fig 1A. (magnification X17000;Ultra thin sections of dehydrated platelet pellets were stained with uranyl acetate and lead citrate and observed under a Zeiss EM900 transmission electron microscope). D: Transverse muscle biopsy section from the quadriceps muscle showing 3 muscle fibers with 1 or more internal nuclei; in 1 of these fibers a splitting line can be seen. (Black bar: 50 micron. Hematoxylin-Phloxine stain). E–F: Sequencing results for tyrosinase (TYR) gene of DNA samples obtained from a normal individual (E) and our patient (F). The arrow indicates the position of the base substitution c.61C>T identified in our patient, corresponding to the p.P21S amino-acid substitution, that has been associated with OCA type 1 in Caucasians.
See this image and copyright information in PMC

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