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Fahr ́s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures
S. Kutilek, I. Plasilova, M. Talabova, M. Senkerikova, P. Solarova, E. Rondzikova, S. Stefackova
Language English Country Nepal
Document type Case Reports, Journal Article
NLK
Free Medical Journals
from 2003
Open Journal Systems (OJS)
from 2003
Medline Complete (EBSCOhost)
from 2010-04-01
PubMed
37042384
Knihovny.cz E-resources
- MeSH
- Child MeSH
- Epilepsy * complications MeSH
- Hypocalcemia * complications MeSH
- Humans MeSH
- Pseudohypoparathyroidism * complications diagnosis MeSH
- Calcium therapeutic use MeSH
- Seizures etiology MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
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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- $a Kutilek, S $u Department of Paediatrics, Pardubice Hospital, Czech Republic. and Department of Paediatrics, Klatovy Hospital, Czech Republic. and Departments of Paediatrics, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic
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- $a 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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- $a Plasilova, I $u Department of Paediatrics, Pardubice Hospital, Czech Republic and Departments of Paediatrics, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic
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- $a Talabova, M $u Departments of Neurology, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic
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- $a Senkerikova, M $u Departments of Genetics, Hradec Kralove Faculty Hospital and Medical Faculty, Charles University, Czech Republic
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- $a Rondzikova, E $u Department of Paediatrics, Klatovy Hospital, Czech Republic
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