ESPE Abstracts

Keywords: Basal ganglia calcifications, hypoparathyroidism, farh's disease

Introduction: Fahr syndrome is a rare anatomical-clinical entity, defined radiologically by the presence of bilateral, symmetrical, non-arteriosclerotic triatopallidodentate calcifications. Its diagnosis is radiological, and must be distinguished from Fahr's disease, which corresponds to the presence of calcifications without abnormalities of phosphocalcic metabolism. We report two pediatric cases of Fahr syndrome.

Observations: 1st case: A 12-year-old female patient, was admitted in the emergency room for tetanic seizures, whose biological assessment revealed a severe hypocalcemia. The ECG was normal. The diagnosis of primary hypoparathyroidism was confirmed in the patient. The brain computed tomography (CT) revealed bilateral and symmetrical calcifications of the pallidum of the lenticular nuclei and the dentate nuclei, suggesting Fahr's syndrome. A clinical and biological improvement was noted after initiation of the substitutive treatment. 2nd Case: A 16-year-old female patient, consulted for generalized tonic-clonic seizures associated with cognitive impairment since the age of 14 years. A cerebral CT scan revealed bilateral and symmetrical calcifications of the lenticular and dentate nuclei, raising the suspicion of Fahr syndrome. Phosphocalcic assessment showed hypocalcemia secondary to primary hypoparathyroidism. The ECG showed a prolongation of the QT space. A clinical and biological improvement was observed after initiation of the substitutive treatment.

Discussion and Conclusion: Fahr's syndrome is a rare entity contrasting severe and varied symptoms with a simple and effective treatment. Our observations underline the importance of investigating phosphocalcic metabolism and searching for cerebral calcifications in patients with neuropsychiatric disorders in order to adopt the appropriate therapeutic approach.