Candidosis endocrinopathy syndrome

ABSTRACT

Candidosis Endocrinopathy Syndrome [CES] is the combination of candidiasis, juvenile idiopathic hypoparathyroidism and Addison's disease. Other components such as keratoconjunctivitis, hypothyroidism or pernicious anemia may be present. W report a 40 years old Libyan woman who presented with repeated attacks of muscle twitching, cramps, tetany and rigidity. Also there was a history of a epileptiform seizures and mental retardation. On examination there was bilateral cataract. Oral examination revealed multiple white plaques over buccal mucosa and tongue with fissured lips and widely separated and hypoplastic teeth. There was no thyroid swelling. All 20 nails were thin, ridged, brittle and discolored. Chvostek's sign and Trousseau's sign were positive. Laboratory investigations showed low serum calcium [3.0 mg/dl] with normal serum phosphate and high alkaline phosphates [284 U/L]; serum sodium and postassium were within normal. Microscopic examination of 20 percent potassium hydroxide [KOH] preparation from oral mucosa and nails was positive for candida species. No evidence of intracranial clacification on X-ray of the skull but CT-Scan of the brain showed bilateral clacification of the basal ganglia. In conclusion, our case showed evidence of mucocutaneous candidiasis [MC], eye involvement, hypoparathyroidism, but no evidence of Addison's disease or hypothyroidism. All patients diagnosed with CES need life-long follow-up, because even though this patient didn't have all the components of the syndrome, they may appear later in life