ACTA ENDOCRINOLOGICA (BUC)

Meningiomas are the most common benign tumors of the brain, accounting for about 15 to 20% of all primary brain tumors. They are more common in females than in males and are most likely found in the sixth and seventh decades. Meningiomas arise from leptomeninges. Even the hyperostosis of the overlying skull occurs in 15-20% of cases and most of them have the tendency to calcify. The biological one can find hypercalcemia in a patient with cerebral meningioma, only if it associates other diseases like hyperparathyroidism. Between January 2000 and December 2006, in the Department of Pituitary and Neuroendocrine Pathology of the “C.I.Parhon” Institute of Endocrinology, Bucharest there have been admitted 29 patients with primary hyperparathyroidism, 7 males and 22 females. From the 22 women with primary hyperparathyroidism, 3 cases presented multiple endocrine neoplasia type I and 19 sporadic primary hyperparathyroidism. In the same period of time we found in 3 of these cases the association between sporadic primary hyperparathyroidism and cerebral meningiomas. We present the cases of three female patients of 56, 55, respectively 58 years old, diagnosed with primary hyperparathyroidism during the follow-up for nontoxic goiter. Two of them were known with cerebral meningiomas, unsuccessfully surgically approached, while the third one was newly diagnosed with meningioma, based on neuroimaging. There are a couple of studies regarding the association between cerebral meningiomas and the multiple endocrine neoplasia type 1 (MEN 1), but we found in the literature only three cases of both cerebral meningioma and sporadic primary hyperparathyroidism. Clinicians should be aware of the possible association between cerebral meningiomas and primary hyperparathyroidism.

Turner syndrome is one of the genetic disorders studied on their association with celiac disease. We present a 27 year old female with an association of Turner syndrome and celiac disease. Gluten intolerance presenting with atypical extraintestinal symptoms (recurrent aphthous stomatitis, iron-deficient anemia, short-stature) was confirmed by intestinal biopsy showing flat small bowel mucosa (Marsh IIIc lesion) and a peripheral lymphocyte karyotype analysis revealed a Turner syndrome determined by isochromosome 46,X,i (Xq) structural abnormality. Our patient fits perfect into this variant of Turner’s Syndrome presenting at least one autoimmune disorder (celiac disease) and hearing loss. Her clinical, biological and immunological disturbances caused by two irreversible disorders have a poor outcome in the absence of gluten-free diet associated with adequate endocrinologic treatment and need sustained long-term follow - up for a good quality of life.

Anaplastic thyroid carcinoma (ATC) is the most aggressive type of thyroid\r\ndedifferentiation. Rarely, ATC associates rhabdoid characteristics and only few cases have been\r\npresented to date. We present a case of a thyroid papillary carcinoma which shifted to an\r\naggressive anaplastic form with rhabdoid dedifferentiation and concomitant leukemic reaction\r\nwith eosinophilia. A 76 years old man with a long standing history of a thyroid nodule, noticed\r\nwithin months a rapid growth of the nodule associating marked compression phenomena with\r\nleft deviation of the trachea and esophagus and mild dysphonia. Palliative surgery was\r\nperformed, but the evolution was unfortunate with further health deterioration (fatigue, dyspnea,\r\ndysphagia, loss of appetite and weight loss). Laboratory tests proved leukocytosis with\r\nneutrophilia and left deviation of leukocytes formula, with major eosinophilia. The pathology\r\nshowed a thyroid papillary carcinoma with anaplastic changes. By immunohistochemistry,\r\nit was confirmed the thyroid origin of the tumor (thyreoglobulin positive areas) but also the\r\nepithelial nature of the undifferentiated areas (positive areas for cytokeratin and epithelial\r\nmembrane antigen). Moreover, in the anaplastic areas, rhabdoid differentiation was\r\nidentified by positive coloration against vimentin, protein S100 and desmin. The tumor was\r\naggressive by its anaplastic transformation, confirmed by a high proliferation index (Ki67:\r\n40% positive). The computed tomography was concordant with the phenotype predicted by\r\nhistological description showing a malignant thyroid tumor, invading cervical and mediastinal\r\nareas with secondary lung disseminations. Unfortunately, the outcome was fatal even though\r\nadditional treatment methods have been tried: radiotherapy and chemotherapy. The\r\nparticularities of this case reside in the very rare dedifferentiation of a papillary thyroid\r\ncarcinoma towards an anaplastic thyroid carcinoma harboring the rhabdoid phenotype and\r\nalso its association with eosinophilia.

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We present the case of severe hypocalcaemia in a 5 weeks old baby, secondary to pre and postnatal vitamin D deficiency. The symptomatic hypocalcaemia led to several life threatening episodes of seizures. Following initial calcium gluconate infusion, multiple phospho-calcic deposits in the soft tissue and cerebral tissue were observed. A multifactorial etiology of calcinosis cutis was suggested by the association between infusion of high and repeated doses of calcium gluconate in a severely hypocalcaemic baby, with a low 25- hydroxyvitamin D3 level, associated to a renal and bone relative resistance to the high level of PTH. The aim of this report is to raise pediatric health care professionals awareness on the relatively rare entity known as calcinosis cutis.

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We present a 6 months male infant with persistent hyperinsulinemic hypoglycemia of infancy (PHHI)- the former nesidioblastosis. The main presenting symptoms were recurrent episodes of hypoglycemic seizures (persistent hypoglycemic status of 30 mg/dL serum glucose) high requirements of i.v. glucose for maintaining euglycemic status. The main diagnostic markers were: high insulin to glucose ratio,negative urinary ketones, normal growth hormone level, normal cortisol level during hypoglycemia, no visible pathological masses on abdominal and cranial MRI . As a medical treatment we used Octreotid and we needed several adjustments of the dose to maintain euglycemic status, between 4 ?g/kg/day s.c. and 10 ?g/kg/day s.c. Our goal were to prevent the neurological damage and the minimum compromise in the fragile equilibrium of advantages and disadvantages of the treatment in order to maintain the best outcome we could get. Our patient is in his second year of treatment with no severe hypoglycemia during the last 12 months and with good neurological and physical development. The long term outcome is difficult to be predicted.

We report a case of anaplastic thyroid carcinoma mimicking acute thyroiditis with skin necrosis. A 82 years woman, with no significant previous medical disorders, was admitted with a few weeks history of a painful rapidly enlarging neck mass associated with hoarseness, dysphagia to solids, dyspnea and a general state deterioration. Physical exam was significant for a left-anterior lateral neck tumor of about 7 cm. The mass was tender, firm, nonpulsatile and nonfluctuant; it was fixed to the underlying cervical tissues. Antero-cervical skin tissues were swollen, hyperemic, presenting necrosis with penetrating tendency, severe neck pain and tenderness, associated with fever, suggesting an acute thyroiditis. The thyroid function was normal (TSH = 0.81 mUI/L, TT3 = 62 ng/dL, TT4= 8.77 ug/dL) as well as antithyroid peroxidase antibody (0.5 UI/mL), while thyreoglobulin was high (384 ng/mL). Thyroid scintigram revealed a cold nodule. Thyroid ultrasound revealed a giant left thyroid mass with necrosis, lymph nodes involvement and displacement of trachea. Fine needle aspiration confirmed the clinical suspicion features of anaplastic thyroid cancer: mitoses, anisocytosis and marked anisokaryosis with enlarged nuclei. Computed tomography confirmed a voluminous mass involving the thyroid, with calcifications, necrosis with multiple latero-cervical lymph nodes, compressing right carotid artery and internal jugular vein; it was detected also a pulmonary metastasis (right medium pulmonary lobe). The patient was diagnosed on having a thyroid carcinoma of the anaplastic type, TNM stage IVc. Surgery was performed through cervical approach without sternotomy, by total thyroidectomy and resection of proximal cervical structures involved by the tumor mass. After surgery, the patient was started on levothyroxine 100 μg/ day and scheduled for cervical radiotherapy, but the tumor relapsed in several weeks. Local disease can be controlled with radiotherapy either alone or in combination with chemotherapy.