Publication: Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures
| creativeworkseries.issn | 1812-2027 | |
| dc.contributor.author | Kutilek, S | |
| dc.contributor.author | Plasilova, I | |
| dc.contributor.author | Talabova, M | |
| dc.contributor.author | Senkerikova, M | |
| dc.contributor.author | Solarova, P | |
| dc.contributor.author | Rondzikova, E | |
| dc.contributor.author | Stefackova, S | |
| dc.date.accessioned | 2025-12-26T08:54:23Z | |
| dc.date.available | 2025-12-26T08:54:23Z | |
| dc.date.issued | 2022 | |
| dc.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 | |
| dc.description.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 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/3885 | |
| dc.language.iso | en_US | |
| dc.publisher | Kathmandu University | |
| dc.subject | Calcium | |
| dc.subject | Convulsions | |
| dc.subject | Fahr´s syndrome | |
| dc.subject | Hypocalcaemia | |
| dc.subject | Intracerebral calcifications | |
| dc.subject | Pseudohypoparathyroidism | |
| dc.title | Fahr´s Syndrome; Pseudohypoparathyroidism Type Ib Masquerading as Epileptic Seizures | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 387 | |
| oaire.citation.startPage | 384 | |
| relation.isJournalIssueOfPublication | 70955ae5-defd-4f34-89b2-a5dc24ab2d4d | |
| relation.isJournalIssueOfPublication.latestForDiscovery | 70955ae5-defd-4f34-89b2-a5dc24ab2d4d | |
| relation.isJournalOfPublication | a782b7ff-cf89-4178-ad1c-11ed89cfe1bd |