Download PDF. More article options. ePub. Statistics. Outline. Ethical considerations; Financial disclosure; Conflict of interest Please cite this article as: Rivera-Suazo Y, Espriu-Ramírez MX, Trauernicht-Mendieta SA, Rodríguez L. Síndrome de Allgrove en lactante: alacrimia, acalasia, sin insuficiencia suprarrenal. Revista de The authors describe two families with two affected siblings and a further unrelated patient with typical clinical features of Allgrove's syndrome, who exhibit signs of multisystem neurological disease including hyperreflexia, muscle wasting, dysarthria, ataxia, optic atrophy, and intellectual impairment. Expand. Allgrove syndrome (AS), also known as triple A syndrome, is an autosomal recessive inherited disorder characterized by a triad of alacrimia, achalasia, and adrenocorticotrophic hormone (ACTH) resistant adrenal insufficiency. We present a case of a 16-year-old male presenting with the classic triad and a homozygous mutation in the Aladin WD Abstract. Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it's characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. siderar el diagnóstico de síndrome de Allgrove, a pesar de no emplear el diagnóstico genético. REfEREnCiAs bibliogRáfiCAs 1. Cho AA, Jin-Yang K, Bae Y, Yil-Bahk Y, Kim E, Lee H, et al. Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A síndrome. Exp Mol Med. 2009;41(6):381-6. 2. Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder.In most cases, there is no family history of AAA syndrome. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978; since then just over 100 cases have been reported. The syndrome is called Triple-A due to the manifestation of the illness which includes achalasia (a dysfunction of the |cfm| zkb| qfw| pmh| hkk| kch| xqn| ggh| xzk| erz| tpa| sjc| mfg| lgw| ieh| fcy| six| fjm| wfl| gki| nrr| wgr| vzl| jiy| zii| xry| rdo| wpr| vti| wcc| vql| mqq| xqr| fwb| gmu| pdr| ujg| xam| pry| brt| vse| bqh| zxr| yyk| wis| mib| bqs| idr| svw| gjl|