Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman
Pseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the Neurological Unit for recurrent episodes of loss of consciousness and seizures. Glycemia and ECG were normal, while hypocalcemia was noted. Clini...
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Wiley
2019-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2019/8456239 |
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| author | Patrizia Del Monte Carla Micaela Cuttica Alessandro Marugo Luca Foppiani Daniela Audenino Tomasz Tadeusz Godowicz Francesca Marta Elli Giovanna Mantovani Emilio Di Maria |
| author_facet | Patrizia Del Monte Carla Micaela Cuttica Alessandro Marugo Luca Foppiani Daniela Audenino Tomasz Tadeusz Godowicz Francesca Marta Elli Giovanna Mantovani Emilio Di Maria |
| author_sort | Patrizia Del Monte |
| collection | DOAJ |
| description | Pseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the Neurological Unit for recurrent episodes of loss of consciousness and seizures. Glycemia and ECG were normal, while hypocalcemia was noted. Clinical history revealed carpo-pedal spasm since the age of 30 years, cognitive impairment, hypothyroidism since early adulthood, and menopause at 30 years. She was taking oral calcium and cholecalciferol for chronic hypocalcemia. Physical features suggested Albright’s osteodystrophy. Blood calcium was confirmed low, with increased parathyroid hormone, moderate 25OH-vitamin D deficiency, and normal creatinine. Brain CT scan revealed calcifications of the basal ganglia, cortical and subcortical white matter, and cerebellum. Therapy was switched to oral calcitriol, with normalization of calcium levels; levetiracetam was started and no further seizures occurred. The clinical diagnosis of PHP1A was confirmed by molecular analysis, which demonstrated the heterozygous c.568_571del mutation of the GNAS gene. Our report illustrates the natural history of a patient with PHP1A, which went undiagnosed until the age of 64 years, with multi-hormonal resistance and clinical sequelae evolving throughout life, and underlines the importance of diagnosing this rare disease, which has a great impact on patients and their family life. |
| format | Article |
| id | doaj-art-c2231c0440ec4eda838b57bcfb9abf1d |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-c2231c0440ec4eda838b57bcfb9abf1d2025-02-03T00:59:17ZengWileyCase Reports in Endocrinology2090-65012090-651X2019-01-01201910.1155/2019/84562398456239Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old WomanPatrizia Del Monte0Carla Micaela Cuttica1Alessandro Marugo2Luca Foppiani3Daniela Audenino4Tomasz Tadeusz Godowicz5Francesca Marta Elli6Giovanna Mantovani7Emilio Di Maria8Endocrine Unit, Galliera Hospital, Genoa, ItalyEndocrine Unit, Galliera Hospital, Genoa, ItalyEndocrine Unit, Galliera Hospital, Genoa, ItalyInternal Medicine Unit, Galliera Hospital, Genoa, ItalyNeurology Unit, Galliera Hospital, Genoa, ItalyNeurosurgery Unit, Galliera Hospital, Genoa, ItalyFondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyFondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of Health Sciences, University of Genoa; Medical Genetics Unit, Galliera Hospital, Genoa, ItalyPseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the Neurological Unit for recurrent episodes of loss of consciousness and seizures. Glycemia and ECG were normal, while hypocalcemia was noted. Clinical history revealed carpo-pedal spasm since the age of 30 years, cognitive impairment, hypothyroidism since early adulthood, and menopause at 30 years. She was taking oral calcium and cholecalciferol for chronic hypocalcemia. Physical features suggested Albright’s osteodystrophy. Blood calcium was confirmed low, with increased parathyroid hormone, moderate 25OH-vitamin D deficiency, and normal creatinine. Brain CT scan revealed calcifications of the basal ganglia, cortical and subcortical white matter, and cerebellum. Therapy was switched to oral calcitriol, with normalization of calcium levels; levetiracetam was started and no further seizures occurred. The clinical diagnosis of PHP1A was confirmed by molecular analysis, which demonstrated the heterozygous c.568_571del mutation of the GNAS gene. Our report illustrates the natural history of a patient with PHP1A, which went undiagnosed until the age of 64 years, with multi-hormonal resistance and clinical sequelae evolving throughout life, and underlines the importance of diagnosing this rare disease, which has a great impact on patients and their family life.http://dx.doi.org/10.1155/2019/8456239 |
| spellingShingle | Patrizia Del Monte Carla Micaela Cuttica Alessandro Marugo Luca Foppiani Daniela Audenino Tomasz Tadeusz Godowicz Francesca Marta Elli Giovanna Mantovani Emilio Di Maria Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman Case Reports in Endocrinology |
| title | Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman |
| title_full | Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman |
| title_fullStr | Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman |
| title_full_unstemmed | Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman |
| title_short | Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman |
| title_sort | unrecognized pseudohypoparathyroidism type 1a as a cause of hypocalcemia and seizures in a 64 year old woman |
| url | http://dx.doi.org/10.1155/2019/8456239 |
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