Fahr's Syndrome: Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures

Abstrakt

Hypocalcaemia of various origin can be manifested by paresthesia, muscle cramps, muscle weakness, syncope, convulsions and even severe psychomotor retardation. Such symptoms can be initially considered as sings of epilepsy.

We present a 12-year old boy with partial seizures and basal ganglia calcifications, initially diagnosed as having Fahr's disease and epilepsy, where severe hypocalcemia, due to genetically confirmed pseudohypoparathyroidism type Ib was the underlying cause.

Klíčová slova

• calcium
• convulsions
• Fahr's syndrome
• hypocalcemia
• intracerebral calcifications
• pseudohypoparathyroidism