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

Oculocutaneous albinism type 1; platelet storage-pool deficiency; Hermansky-Pudlak syndrome;recurrent rhabdomyolysis; malignant hyperthermia syndromeOculocutaneous albinism (OCA) comprises a group of autosomal recessive disorders with aclinical spectrum that ranges from the most severe OCA type 1A (OCA1A, OMIM 203100),with a complete lack of melanin production throughout life, to milder forms (OCA1B,OMIM 606952; OCA2, OMIM 203200; OCA3, OMIM 203290; and OCA4, OMIM606574) [Gronskov, 2007]. At least four human genes are implicated; TYR, P, TYRP1andMATP. There are also syndromic forms of OCA, among which is Hermansky-Pudlaksyndrome (HPS, OMIM 203300), an autosomal recessive disease characterized by OCA,bleeding tendency due to platelet storage-pool deficiency, and variable manifestations due tolysosomal ceroid lipofuscinosis in multiple organs. [Wei, 2006; Huizing and Gahl, 2002;Gahl et al., 1998; Li et al., 2003]. The clinical manifestations of different HPS types arevariable and at least 8 human types have been described associated with mutations in 4ubiquitously expressed protein complexes genes; adaptor protein-3 (AP-3) and biogenesis oflysosome-related organelles complex 1 through -3 (BLOC-1,-2 and -3) [Dell’Angelica,2004].Here we present a patient with oculocutaneous albinism type 1, recurrent rhabdomyolysisand bleeding diathesis. Our patient (Fig. 1A) was a 14.5 year old girl from Corfu island(Greece), born at term to healthy, nonconsanguineous parents. She had oculocutaneousalbinism, horizontal nystagmus, photophobia and severely decreased visual acuity. Her