Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures

Authors

  • S. Kutilek Department of Paediatrics, Pardubice Hospital, Czech Republic
  • I. Plasilova Department of Paediatrics, Pardubice Hospital, Czech Republic
  • M. Talabova Department of Neurology, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic
  • M. Senkerikova Department of Genetics, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic
  • P. Solarova Department of Genetics, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic
  • E. Rondzikova Department of Paediatrics, Klatovy Hospital, Czech Republic
  • S. Stefackova Department of Neurology, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic

DOI:

https://doi.org/10.3126/kumj.v20i3.54015

Keywords:

Calcium, Convulsions, Fahr's syndrome, Hypocalcaemia, Intracerebral calcifications, Pseudohypoparathyroidism

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.

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Author Biographies

S. Kutilek, Department of Paediatrics, Pardubice Hospital, Czech Republic

Department of Paediatrics, Klatovy Hospital, Czech Republic and
Department of Paediatrics, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic.

I. Plasilova, Department of Paediatrics, Pardubice Hospital, Czech Republic

Department of Paediatrics, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic.

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Published

2022-12-31

How to Cite

Kutilek, S., Plasilova, I., Talabova, M., Senkerikova, M., Solarova, P., Rondzikova, E., & Stefackova, S. (2022). Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures. Kathmandu University Medical Journal, 20(3), 384–387. https://doi.org/10.3126/kumj.v20i3.54015

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Case Notes