KUMJ | VOL. 20 | NO. 3 | ISSUE 79 | JULY-SEPT. 2022
Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures
Kutilek S, Plasilova I, Talabova M, Senkerikova M, Solarova P, Rondzikova E, Stefackova S
Abstract: 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 signs of epilepsy. We present a 12year
old
boy
with
partial
seizures
and
basal
ganglia
calcifications,
initially
diagnosed
as
having Fahr´s disease and epilepsy, where severe hypocalcaemia, due to
genetically confirmed pseudohypoparathyroidism type Ib was the underlying cause.
Excellent clinical improvement was observed after calcium and vitamin D therapy.
The basal ganglia calcifications were secondary due to chronic hypocalcaemia,
therefore the appropriate diagnosis was pseudohypoparathyroidism type Ib with
Fahr´s syndrome, but not Fahr´s disease. In conclusion, the serum evaluation of
minerals, especially calcium and phosphate, should be performed in all patients
with convulsions, cramps and psychomotor retardation. This is essential in arriving
at a proper diagnosis and early initiation of appropriate treatment.
Keyword : Calcium, Convulsions, Fahr´s syndrome, Hypocalcaemia, Intracerebral calcifications, Pseudohypoparathyroidism
