RESUMO
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 ALADIN [Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder]. This report relates to two sisters, aged 8 and 12 years, who had vomiting, muscle weakness, alacrimia, excessive fatigue and dysphagia. Abdominal sonography, esophago-gastroduodenoscopy, barium swallow, esophageal manometry, CT scan abdomen and brain, biochemical profiles, as well as neurologic and ophthalmic evaluations were consistent with Allgrove's syndrome. Management consisted of pneumatic balloon dilatation for achalasia and initiation of cortisone therapy with successful resolution of dysphagia and other symptoms
RESUMO
Objective: to determine the frequency of musculoskeletal manifestations in diabetic patients and to examine the possible predictors for its development
Material and Methods: we performed a cross sectional study from 1 April 2013 to 31 June 2013 to evaluate the musculoskeletal manifestations in diabetic patients at Diabetic Management Center of Services Hospital Lahore, Pakistan. Base line variables were examined to determine the association of musculoskeletal manifestations. Analysis was carried out using Statistical package for Social Sciences [SPSS version 20]
Results: 100 patients were included; 34% had musculoskeletal manifestations. Of these 34 patients 29 [85%] were type 2 DM. The most common manifestations were adhesive capsulitis [n=13], carpal tunnel syndrome [n=12] and muscle atrophy [n=9]. A significant association was found between gender [p=0.041], overweight [p=0.021] and neuropathy
Conclusion: musculoskeletal manifestations are recognized in diabetic patients. Physicians should consider examining the particular regions in the joints of shoulders and hands during their routine visits