Triple A syndrome 3A (Allgrove syndrome) is a rare autosomal recessive multiorgans dysfunction characterized by alacrima, achalasia which is the absence of esophageal muscle peristalsis and lower sphincter failure to relax and adrenal insufficiency. About third of patient additional features like neurological and autonomic manifestations reported (making the syndrome 4A), the spectrum of neurological symptoms varies including gait disturbances, parkinsonism, muscle wakeness, mental retardation, peripheral sensory and motor neuropathy. Here we reported A 18 years old male, who had postnatal recurrent conjunctivitis so alacrima was diagnosed, in the sventh years he developed achalasia signs; dysphagia and regurgitation and laparscopic surgical myotomy and fundoplication were done, when he became 16 he presented to our clinic for poor appetite, weight loss,and failure to thrive.
View Article and Find Full Text PDFAutosomal dominant polycystic kidney disease (ADPKD) is a systemic disease characterized by the formation of multiple cysts in several organs. The formation of aneurysms accompanying this disease is being increasingly reported in the literature, and mutations in PKD-1 and PKD-2 are suspected in this etiology. Although the association between ADPKD and multiple coronary arteries aneurysms (CAA) was reported several times, we are presenting a case with the combination of ADPKD, multiple giant CAAs, abdominal aortic aneurysms and a suspected intracranial aneurysm, which has never been reported.
View Article and Find Full Text PDF