A Síndrome de Allgrove é uma doença rara hereditária, causada por mutações no gene AAAS, que possui tríade clássica sintomas caracterizada alacrimia, acalasia e insuficiência adrenal. Além da tríade, sinais neurológicos como disfunção autonômica, microcefalia, cognitiva ou demência leve, do neurônio motor/amiotrofia outros podem ser mencionados em até 70% dos casos. Nessa perspectiva, o objetiv...

OBJECTIVE Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS). METHODS We identified 2 unrelated patients with atypical features of tongue atrophy and fasciculations in the setting of a severe neuropathy. RESULTS Both patients were confirmed to have transthyret...

Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency co...

Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation. The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called A...

BACKGROUND Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and - occasionally - autonomic instability. Mutations have been found in the AAAS gene on 12q13. CASE PRESENTATION We present the case of a 12 year-old boy with classic systemic features of triple-A syndrome and several prominent ophthalmic features,...