Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.

Type 1 autoimmune polyglandular syndrome (APS1) is a rare hereditary disease affecting nearly 600 patients worldwide. The first of its cardinal manifestations, chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease, presents in childhood. Additional nonclassical landmarks of APS1 continue to develop as late as the fifth decade of life. Two thirds of patients develop the full triad before 25 years of age. Only 20% of patients develop the entire triad simultaneously. Addison's disease is rarely reported as the first manifestation. According to APS1 classifications, restricted criteria for a single cardinal component, although elements of suspicion are not sufficient to diagnose APS1. This case report is peculiar as hypoadrenalism was the first and only manifestation of APS1 for nearly 3 decades since its diagnosis. Theoretically, exceptions from the protocol of APS1 diagnostic criteria would be recognized as acceptable for diagnosis in the future, when similar case reports of only 1 component of APS1 appear.

Diabetic neuropathic cachexia: a case report.

INTRODUCTION: We report a case of the rare entity of diabetic neuropathic cachexia, in order to remind clinicians that these cases still exist. CASE PRESENTATION: A 71-year-old Moslem Arab man with type 2 diabetes along with diabetic neuropathic cachexia complicated by a hyperfunctioning autonomous thyroid nodule, and undiagnosed acromegaly came under our care. We report the unique challenges as to what are the priorities to consider in the course of investigation and treatment. This case emphasizes the fast recovery from this remediable disorder, with antineuropathic medication and exogenous insulin to serve as an anabolic hormone on top of its hypoglycemic effect. Shared pathophysiologic aspects of diabetic neuropathic cachexia, cancerous etiologies and acute phase response are discussed. CONCLUSIONS: Diabetic neuropathic cachexia is an integral differential diagnosis, whenever an intense neuropathic pain dominates patient complaints, accompanied with anorexia, weight loss as well as mood and sleep disturbances. This is an original case report of interest to internists, endocrinologists, diabetologists and pain clinic practitioners. Raising the suspicion of diabetic neuropathic cachexia early and concomitant to weight loss investigation, might curtail suffering and prompt early recovery from a severe illness that has a good prognosis.