ACTA ENDOCRINOLOGICA (BUC)

Introduction. Hypoparathyroidism is a rare endocrine disorder, leading to complications affecting the kidneys, the eyes, the cerebrum (Fahr’s syndrome, epilepsy, parkinsonism, cognitive impairment), and the heart. Case report. We present the case of a 24-year old male that presented to our clinic for generalized tonicclonic seizures increasing in frequency for the last year or so. Furthermore, he was diagnosed with subcapsular cataract of both eyes and had intraocular lens implant surgery 12 years ago. CT scan performed at admission showed calcium deposits on the dentate nuclei, basal ganglia, thalamus, cerebellum and bilateral subcortical fronto-parietal white matter compatible with Fahr’s disease. The results of the laboratory tests were normal except for hypocalcemia, hyperphosphoremia and low intact parathormone (iPTH). The patient was diagnosed with primary hypoparathyroidism which led to Fahr’s syndrome. The patient was prescribed oral medication including calcium carbonate, calcidiol, magnesium orotate and levetiracetam. The follow-up after three months revealed a seizure free status and normalization of magnesium, calcium, and phosphorus levels. Conclusion. Fahr’s syndrome can be a cause of epileptic seizures and should be considered in the clinical approach to an epileptic patient, especially in children, teenagers, and young adults.

A 52-year old women was diagnosed with acromegaly 5 years ago, and transseptal transsphenoidal pituitary microsurgery has been performed. Later the patient did not come to controls and the complaints prior to operation growth of the hands and feet, headache, sweating and resistant hypertension have continued. She was referred to our clinic with the same complaints. Physical examination showed typical acromegalic features without typical Cushingoid features. Magnetic resonance imaging of the brain revealed the presence of a pituitary macroadenoma. Basal plasma levels of growth hormone (GH) and insulin-like growth factor-1 (IGF-1) levels were high. GH suppression was not observed in 75 gr oral glucose suppression test. Due to refractory hypertension and central obesity hypothalamo-pituitaryadrenal (HPA) axis was evaluated. HPA showed a lack of circadian rhythm of adrenocorticotropic hormone (ACTH) and cortisol, non-suppressibility to 1 mg overnight and classical 2 day low-dose dexamethasone, but suppressibility to high-dose (8 mg) dexamethasone. The tumour resected by transsphenodial surgery was histopathologically consistent with the diagnosis of adenoma. Immunostaining showed GH and ACTH producing cells. After surgery plasma GH and IGF-1 levels decreased to normal along with normalization of HPA axis. Hypertension disappeared without medical treatment after removal of the pituitary tumour. This is a very rare case of GH-producing pituitary adenoma causing typical acromegaly with concomitant production of ACTH causing subclinical Cushing’s disease.

Hypothyroidism is a common endocrine disease with characteristic symptoms and signs such as fatigue, weight gain, intolerance of cold, constipation, depression, mental slowdown and muscle cramps. Myopathic changes are observed in 30-80% of patients with hypothyroidism, but muscular hypertrophy with muscle stiffness has been reported in less than 10% of patients. Hoffmann’s syndrome is a specific form of the hypothyroid-associated myopathy, rarely seen. Symptoms of this syndrome include proximal muscle weakness, hypertrophies in extremities, stiffness, muscle cramps, spontaneous muscle pain; and are associated with increased muscle enzymes. These findings can be seen at any time during hypothyroidism. Hofmann’s syndrome has a very good prognosis. Its response to hormone replacement therapy is very good. Therefore, in patients with myopathylike symptoms, considering in the differential diagnosis that the myopathy may be a reflection of hypothyroidism will facilitate the diagnosis and treatment. In this case, we aimed to present together Hashimoto thyroiditis and muscular hypertrophy, which is an atypical presentation of hypothyroidism and rarely seen in the literature, namely Hoffmann’s syndrome.