Publication: Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures
Date
2022
Journal Title
Journal ISSN
Volume Title
Publisher
Kathmandu University
Abstract
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 12-
year 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.
KEY WORDS
Calcium, Convulsions, Fahr´s syndrome, Hypocalcaemia, Intracerebral calcifications,
Pseudohypoparathyroidism
Description
Kutilek S,1-3 Plasilova I,1,3 Talabova M,4 Senkerikova M,5 Solarova P,5 Rondzikova E,2 Stefackova S4
Department of Paediatrics
Pardubice Hospital, Czech Republic
2Department of Paediatrics
Klatovy Hospital, Czech Republic
3Departments of Paediatrics
4Departments of Neurology and
5Departments of Genetics
Hradec Kralove Faculty Hospital and Medical Faculty
Charles University, Czech Republic
Keywords
Calcium, Convulsions, Fahr´s syndrome, Hypocalcaemia, Intracerebral calcifications, Pseudohypoparathyroidism