Background: Fahr syndrome is a rare degenerative disease, characterized by the presence of calcification of the basal ganglia.Autosomal recessive or dominant, variable penetrance.
Usually asymptomatic in the first 2 decades, the disease typically manifests itself either at 30 years of age by the appearance of neuropsychiatric disorders, or at age 60 by progressive dementia with extrapyramidal syndrome.
Case presentation: we report the case of a 9-year-old child left with a history of generalized epileptic seizure disorder under treatment then the 45th day of life, orient for hypocalcemia associate with a Fahr syndrome discovered as a result of walking disorder with claudication of the lower limb, the clinical examination finds a child with mental retardation without staturoponderal delay, dental hypoplasia, signs of hypocalcemia: paresthesia, cramp, Chvostek's sign and trousseau's signs present. Neurological examination showed an aphasic child with extrapyramidal syndrome.
The biological examinations showed significant hypocalcemia and hyperphosphoremia. The serum parathyroid hormone level was very low. Cerebral computed tomography revealed bilateral calcifications of the basal ganglia.
The diagnosis of hypoparathyroidism caused Fahr syndrome was retained. Initiated treatment included calcium 2 g/d and vitamin D3 (one alpha).
Conclusion: our observation underlines the value of investigating in children the existence of abnormalities of the phosphocalcic metabolism with Pth assay in subjects carrying cerebral calcifications, and particularly in patients with Fahr syndrome.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology