Endocrine Abstracts

Introduction: Fahr syndrome (FS) is a neuropsiquiatric condition due to progressive basal ganglia calcification. Although physiopathology is not completely understood, it may be secondary to infectious, metabolic and genetic diseases.

Case report: A 65-year-old male Caucasian was referred to the outpatient endocrine department because of hypocalcaemia. No perioral paresthesia or tingling of the fingers and toes were noticed. He complained of longstanding hand tremor and since one year ago apathy and gait instability were evident. Past medical history revealed High Blood Pressure under treatment. He also referred previous use of anti-convulsivant medication since he was 15 because of diagnosed epilepsy. Drugs were suspended at 20th with no further seizures. No previous cervical surgery or irradiation were done. Her death mother was also diagnosed of epilepsy. Besides slow and rigid movement, physical examination was otherwise normal, with negative Chvosteck and Trouseau. Deafness, visual field defects or dismorphisms were absent. Analytic evaluation confirmed albumin-corrected hypocalcemia, hyperphosphatemia, normal serum magnesium, hypoparathyroidism with sufficient 25OH-vitamin D levels. Slight ferropenia and chronic renal disease grade 2 were diagnosed. Besides Hashimoto thyroiditis, no other endocrinopathy was evident. Ecocardiogram evidenced left auricular dilatation and reduced global systolic function. Cystic renal disease and slight cystic calcifications were documented on kidneys ultrasound and cervical ultrasound evidenced multinodular goiter. Bone densitometry of femur and lumbar spine was normal. craneoencephalic TC identified bilateral simetric parenquimatous calcifications, both supra and infratentorial, with extensive involvement of basal ganglia. I¹²³-SestaMIBI scintigaphy did not fixate in cervical imaging. Anti-NALP5 antibody was negative, as well as CASR activating mutation.

Discussion and conclusion: Parathyroid hormone and calcium abnormalities are the most common metabolic disorders associated to FS. We describe a patient diagnosed of idiopathic hypoparathyroidism. Basal ganglia calcifications support a long-standing hypocalcemia, and chronic ion disturbance may have contributed to the absence of usual muscular complaints.