Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. 2008

Despina Contopoulos-Ioannidis, and Athanasios Evangeliou, and Henk ter Laak, and Bert de Vries, and Rolph Pfundt, and Hans Scheffer, and Jan Smeitink, and Meropi Tzoufi, and Alexandros Makis, and Evangelos Marinos, and Richard Hess, and David Adams, and Marjan Huizing, and Eva Morava
Department of Pediatrics, University of Ioannina School of Medicine, Ioannina, Greece. dcontop@cc.uoi.gr

UI MeSH Term Description Entries
D008305 Malignant Hyperthermia Rapid and excessive rise of temperature accompanied by muscular rigidity following general anesthesia. Hyperpyrexia, Malignant,Hyperthermia, Malignant,Malignant Hyperpyrexia,Anesthesia Related Hyperthermia,Hyperthermia of Anesthesia,Anesthesia Hyperthermia,Hyperthermia, Anesthesia Related,Malignant Hyperpyrexias
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D010981 Platelet Storage Pool Deficiency Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored. Storage Pool Deficiency,Acquired Storage Pool Disease,Deficiency, Platelet Storage Pool,Deficiency, Storage Pool,Familial Platelet Storage Pool Disease,Platelet Storage Pool Deficiencies,Platelet Storage Pool Disease,Storage Pool Deficiency, Platelet,Storage Pool Platelet Disease,Deficiencies, Storage Pool,Storage Pool Deficiencies
D012008 Recurrence The return of a sign, symptom, or disease after a remission. Recrudescence,Relapse,Recrudescences,Recurrences,Relapses
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012206 Rhabdomyolysis Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. Rhabdomyolyses
D016115 Albinism, Oculocutaneous Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types. Albinism, Tyrosinase-Negative,Albinism, Tyrosinase-Positive,Albinism, Yellow-Mutant,Oculocutaneous Albinism,Yellow Mutant Albinism,Albinism, Tyrosinase Negative,Albinism, Tyrosinase Positive,Albinism, Yellow Mutant,Mutant Albinism, Yellow,Mutant Albinisms, Yellow,Tyrosinase-Negative Albinism,Tyrosinase-Positive Albinism,Yellow-Mutant Albinism
D020022 Genetic Predisposition to Disease A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic

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