Endocrine Abstracts

Introduction: Fahr syndrome is a rare entity characterized by the presence of bilateral intracranial calcifications with predilection for the basal ganglia and dentate nuclei. It is commonly associated with endocrine disorders, particularly parathyroid and Vitamin D disturbances. Herein we report a case of pseudohypoparathyroidism revealed by Fahr syndrome.

Observation: A 29-old-year male was referred to our department for symptomatic hypocalcemia. He showed a decrease in his school performances with memory and concentration impairement. Computed tomography scan of the brain revealed bilateral, symmetric basal ganglia calcifications. Ophthalmic examination showed bilateral cortical cataract.

Physical examination showed positive Chvostek and Trousseau’s signs. The rest of clinical examination was normal in particular no typical findings of Albright’s hereditary osteodystrophy were observed.

Laboratory investigations revealed severe hypocalcemia of 44 mg/l (normal range: 85-105), hyperphosphatemia of 48 mg/l (normal range: 25-45), elevated parathormone level of 218 pg/ml (normal range: 15–68.3), normal renal function, normal serum albumin and normal 25 OH Vitamin D level (46 μg/l, normal range: 30–80 μg/l). Thyroid function was normal. Urinary cyclic adenosine monophosphate level and Gsα subunit assay were not available Considering laboratory findings, the diagnosis of pseudohypoparathyroidism was established. Patient was put on substitutive therapy.

Conclusion: In the absence of chronic renal failure, the coexisting of hypocalcemia, hyperphosphatemia, elevated PTH and normal vitamin D level is consisting with the diagnosis of pseudohypoparathyroidism.