Pseudohypoparathyroidism Debuting with Epilepsy: a Case Report
Author: Vlahov J.1, Tumbaleva M.1, Tsolova E.2, Popova S.3, Gergeltcheva V.2, Borissova A.-M.1
Abstracts:
Pseudohypoparathyroidism (PHP) and its related disorders, progressive osseous heteroplasia (POH) and acrodysostosis, are rare diseases occurring in 0,34 to 1,1 of 100,000 people1 . The underlying cause is target tissue resistance to parathyroid hormone (PTH) action which is mediated by a Gs α-subunit activating the adenylyl cyclase pathway2 . Often, the disorder is accompanied by resistance to other hormones with Gs α-coupled receptors, such as TSH, LH, FSH, GHRH, and calcitonin3. PHP manifests with the biochemical constellation of hypoparathyroidism (hypocalcaemia, hyperphosphatemia) and an elevated PTH4 . In some of the forms of PHP there are characteristic bone deformities (Albright hereditary osteodystrophy, AHO), including short stature, short bones due to early epiphyseal closure, stocky build, facies lunata, early-onset obesity, brachydactyly, disrupted dental development, subcutaneous and ectopic ossifications. Interestingly, there are cases manifesting with AHO but without PTH resistance (pseudopseudohypoparathyroidism, PPHP)2-4. Typically, ectopic calcifications occur in the CNS, more specifically in the basal ganglia and epiphysis (Fahr syndrome)4 . We present you a case of a 49-year-old female patient with a history of longstanding cephalalgy without intracranial hypertension. In addition to cognitive impairment and executive dysfunction, she presented with paroxysms resembling partial epileptic seizures. From the laboratory work-up in the Clinic of Endocrinology the patient demonstrated hypocalcemia (1,4 – 1,8 mmol/l), hyperphosphatemia (1,9 – 2,2 mmol/l), elevated PTH levels, 437 (15 – 65) pg/ml, with normal alkaline phosphatase, 140 (30 – 150) IU/l and intact glomerular filtration rate, 79 ml/min/1,73m2 . The treatment included oral calcium, cholecalciferol and calcitriol, improving the hypocalcaemia and hyperphosphatemia. The patient was evaluated in the Clinic of Neurology with a head CT-scan unveiling multiple intracranial calcifications in both cerebral hemispheres, as well as in both hemispheres of the cerebellum, i.e., Fahr syndrome. Treatment was started with Carbamazepine for overcoming the disorientation episodes, as well as the cephalalgy, and, for neuroprotection, Cytisin was added.