Adrenoleukodystrophy X. A case report
Abstract
The adrenoleukodystrophy is a hereditary illness tied to the X-chromosome of recessive form caused by a defect in the ABCD1 gene, is a peroxisomal illness which causes accumulation in suero, the adrenal cortex and the white substance of the central system, of fatty acids of long chain. The clinic is characterized by neurological deterioration and adrenal insufficiency. Until now there has not been obtained a treatment that has been demonstrated effectively in the prevention or healing of the neurologic alterations. A patient is presented who fulfills clinical and criteria imaging of this entity.Downloads
References
Moser HW. Trastornos de los ácidos grasos de cadena muy larga. En: Behrman RE, Kiegman RM, Arvin AM. Nelson. Tratado de Pediatría. 15. ed. Madrid: McGraw-Hill; 1998. p. 453-61.
Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120:1485-1508.
Dubey P, Raymond GV, Moser AB, Kharkar S, Bezman L, Moser HW. Adrenal insuffiency inasymptomatic. Adrenoleukodystrophy patients identified by very long chain fatty acid screening. J Pediatr. 2005; 146:528-532.
Berger J, Gartner J. X-linked adrenoleucodystrophy: clinical, biochemical and pathogenetics aspects. Biochim Biophys Acta. 2006; 12:1721-32.
Cox CS, Dubey P, Raymond GV, Mahmood A, Moser AB, Moser HW. Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. Arch Neurol. 2006; 63:69-73.
Coll MJ, Palau N, Camps C, Ruiz M, Pampols T, Girós M. X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. Clin Genet. 2005; 67:418-24.
García Cuartero AB, González Vergaza A, Herranz Antolín AS, Blanco A, Sánchez Mateo SA, Carrasco M, et al. Adrenoleucodistrofia ligada al cromosoma X: diagnóstico olvidado en niños con Enfermedad de Addison idiopática. An Pediatr (Barc). 2008; 68(4):401-14.
Moser HW. Therapy of X-linked adrenoleukodystrophy. Neuro Rx. 2006; 3:246-53.
Romero C, Martínez A, Meli F, Salas E. Desmielinización en alas de mariposa: hallazgo característico de adrenoleucodistrofia en resonancia magnética. Rev Argent Radiol. 1995; 59(3):151-6.
Moser HW, Mahmood A, Raymond GV. X-linked adrenoleucodystrophy. Nat Clin Pract Neurol. 2007; 3:140-51.
Chávez Carballo E. Diet therapy in the treatment of neuropediatric disorders. Rev Neurol. 2003; 1-15; 37:267-274.
Susuki Y, Isogai K, Terramoto T. Bone marrow transplantation for the treatment of linked adrenoleukodystrophy. J Inherit Metabol Dis. 2000; 23:453-458.
Peters C, Steward CG. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marr Transpl. 2003; 31: 229-239.
Peters CH, Charnas LR, Tan Y, Shapiro EG, de For T, Grewal SS, et al. Cerebral X-linkedadrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood. 2004; 104:881-884.
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