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Artigalás,Osvaldo; Paskulin,Giorgio; Riegel,Mariluce; Burin,Maira; Saraiva-Pereira,Maria Luiza; Maluf,Sharbel; Kiss,Andrea; Schwartz,Ida Vanessa D.. |
A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features. |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 22q13 deletion; Apparently balanced translocation; ARSA gene; Arylsulfatase A pseudodeficiency; Metachromatic leukodystrophy. |
Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007 |
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Giugliani,Roberto; Federhen,Andressa; Muñoz Rojas,Maria Verônica; Vieira,Taiane; Artigalás,Osvaldo; Lapagesse Pinto,Louise; Azevedo,Ana Cecília; Acosta,Angelina; Bonfim,Carmen; Lourenço,Charles Marques; Chong Ae,Kim; Horovitz,Dafne; Bonfim,Denize; Norato,Denise; Marinho,Diane; Palhares,Durval; Santos,Emerson Santana; Ribeiro,Erlane; Valadares,Eugênia; Guarany,Fábio; Lucca,Gisele Rosone de; Pimentel,Helena; Souza,Isabel Neves de; Correa Neto,Jordão; Fraga,José Carlos; Goes,José Eduardo; Cabral,José Maria; Simionato,José; Llerena Jr.,Juan; Jardim,Laura; Giuliani,Liane; Silva,Luiz Carlos Santana da; Santos,Mara L.; Moreira,Maria Angela; Kerstenetzky,Marcelo; Ribeiro,Márcia; Ruas,Nicole; Barrios,Patricia; Aranda,Paulo; Honjo,Rachel; Boy,Raquel; Costa,Ronaldo; Souza,Carolina; Alcantara,Flavio F.; Avilla,Silvio Gilberto A.; Fagondes,Simone; Martins,Ana Maria. |
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mucopolisaccharidoses; Hurler syndrome; Hunter syndrome; Maroteaux-Lamy syndrome; Enzyme replacement therapy; Treatment guidelines. |
Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400001 |
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