Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor-beta gene (THRB, GLU457LYS) treated with methimazole.

A 15-year-old girl presented with hyperactivity and behavior disorders. She had tachycardia and no goiter. Thyroid hormones were high and TSH normal. A novel mutation GLU457LYS in THRB gene was observed. Methimazole and propranolol improved clinical symptoms but increased TSH level.

Brain atypical teratoid rhabdoid tumor in an adult with long-term survival: Case report and review of literature.

Atypical teratoid/rhabdoid tumor (AT/RT) represents a rare malignant embryonic tumor of infant and early childhood. Its prognosis remains dismal despite aggressive multimodal treatment. We report the case of a 24-year-old male who was diagnosed with left parietal AT/RT after total resection and who is still in good health and recurrence free 4 years after surgery and adjuvant chemotherapy and radiotherapy.

Rasmussen's Encephalitis: A Report of a Tunisian Pediatric Case and Literature Review.

Rasmussen's encephalitis (RE) is a rare progressive inflammatory disease of the central nervous system. It is characterized by unilateral hemispheric atrophy, pharmacoresistant focal seizures, and progressive neurological deficit. The exact etiopathogenesis still remains unknown. Brain imaging plays an important role in diagnosis and follow-up. Fluctuation of lesions in brain imaging was reported in few cases. Herein, we report an additional pediatric case of Rasmussen encephalitis with fluctuating changes in brain MRI.

Gestational pituitary apoplexy: Case series and review of the literature.

Pituitary apoplexy is an uncommon but potentially life-threatening emergency due to abrupt ischemic infarction or hemorrhage of the pituitary tumor. In many instances, pituitary apoplexy is the initial presentation in patients who were not previously diagnosed to have pituitary adenomas. Variety of precipitating factors have been linked to the occurrence of pituitary apoplexy, which include pregnancy. However, pituitary apoplexy related to pregnancy is limited to isolated case reports and very small case series. The main symptom is headache of sudden onset associated with visual disturbances, signs of meningeal irritation, and/or endocrine dysfunction. In the context of pregnancy the diagnosis of pituitary apoplexy can be challenging and confused with other complex conditions such as pre-eclampsia. Magnetic resonance imaging is the most sensitive sequence to confirm the diagnosis by revealing a pituitary tumor with hemorrhagic and/or necrotic components. Corticotropic deficiency with adrenal insufficiency is a potentially life-threatening disorder for both mother and the fetus if left untreated. The choice between conservative management with dopamine agonists and glucocorticoid, this "wait and see approach" and trans-sphenoidal resection depend on the severity of neuro-ophtalmic signs and the gestational week. In this article, we present three cases of pituitary apoplexy related to pregnancy. Pituitary apoplexy occurred in the third trimester in the three cases. It was the first presentation of an unknown pituitary adenoma in two cases, and complicated a preexisting macroprolactinoma in the other case. All three cases of our patients had sudden onset of severe headache and deterioration of the visual field in two cases. The pituitary MRI performed in our patients was the essential tool confirming the diagnosis of pituitary apoplexy. In all the patients was prompt replacement of deficient hormones especially glucocorticoids with close surveillance. The trans-sphenoidal resection was indicated in two pregnant women; as the first choice treatment in one case presenting with papillary edema, and as the second line after the deterioration of the visual field in one case. In the lack of guidelines of management pituitary apoplexy in case of pregnancy, we review the existing literature with pertinent clinical presentation, radiological findings, management and maternal/fetal outcomes of this rare pathology. The aim is to provide a rational framework for therapeutic management of pituitary apoplexy during pregnancy.

Pituitary tuberculosis presented with pituitary coma.

BACKGROUND: Pituitary tuberculosis is very rare. Its diagnosis is difficult unless a bacteriological or histological evidence of tuberculosis. OBSERVATION: We report the case of a 54 years old woman who presented with a pituitary coma that occurred two weeks after the initiation of antituberculous therapy for cervical lymph node tuberculosis. Resonance magnetic imaging showed a pseudotumoral aspect of the pituitary gland. She had hormonal replacement and anti-tuberculous therapy. Outcome was favourable with the normalization of both the pituitary function and the pituitary volume. However, an acute hypopituitarism happened eight months after the withdrawal of antituberculous, which were taken during 12 months. The re initiation of anti tuberculous therapy and its extension to two years leaded to a prolonged remission. CONCLUSION: the three-phase outcome confirms the tuberculous origin of the hypophysitis in our patient.

Pituitary MRI characteristics in 297 acromegaly patients based on T2-weighted sequences.

Responses of GH-secreting adenomas to multimodal management of acromegaly vary widely between patients. Understanding the behavioral patterns of GH-secreting adenomas by identifying factors predictive of their evolution is a research priority. The aim of this study was to clarify the relationship between the T2-weighted adenoma signal on diagnostic magnetic resonance imaging (MRI) in acromegaly and clinical and biological features at diagnosis. An international, multicenter, retrospective analysis was performed using a large population of 297 acromegalic patients recently diagnosed with available diagnostic MRI evaluations. The study was conducted at ten endocrine tertiary referral centers. Clinical and biochemical characteristics, and MRI signal findings were evaluated. T2-hypointense adenomas represented 52.9% of the series, were smaller than their T2-hyperintense and isointense counterparts (P<0.0001), were associated with higher IGF1 levels (P=0.0001), invaded the cavernous sinus less frequently (P=0.0002), and rarely caused optic chiasm compression (P<0.0001). Acromegalic men tended to be younger at diagnosis than women (P=0.067) and presented higher IGF1 values (P=0.01). Although in total, adenomas had a predominantly inferior extension in 45.8% of cases, in men this was more frequent (P<0.0001), whereas in women optic chiasm compression of macroadenomas occurred more often (P=0.0067). Most adenomas (45.1%) measured between 11 and 20 mm in maximal diameter and bigger adenomas were diagnosed at younger ages (P=0.0001). The T2-weighted signal differentiates GH-secreting adenomas into subgroups with particular behaviors. This raises the question of whether the T2-weighted signal could represent a factor in the classification of acromegalic patients in future studies.

[Neuroradiological pattern of peripartum cerebro vascular disease medicating transfer to determine care unit]. / Aspects neuroradiologiques de la pathologie vasculaire cérébrale du peripartum nécessitant un transfert en milieu de réanimation.

BACKGROUND: Pregnancy and puerperium are considered a period of a high risk of stroke responsible in a part of the morbidity and mortality in women. Imaging is the pivotal tool to diagnostics and care. AIM: To investigate the clinical and imaging features cerebrovascular complications during pregnancy and in post partum period. METHODS: We report a retrospective analysis of forty four patients (November 2002 - October 2010) admitted in the intensive car department of the national institute of neurology for cerebro-vascular complications during pregnancy and in post partum period. RESULTS: Cerebro-vascular imaging modalities included cerebral computed tomography (CCT) with and without contrast in 94% of cases, magnetic resonance imaging (MRI) in 30.6% of cases completed by venous angiography MRI in 27.2% of cases and angiography MRI of Willis polygon in 11.3% of cases and by cerebral angiography in 13.6% of cases. Posterior reversible encephalopathy syndrome (PRES) is diagnosed in 61.4 % of cases followed by meningo-cerebral haemorrhage (MCH) in 29.5% and finally cerebral venous thrombosis (CVT) and arterial ischemia in 4.5% of cases each one. The cerebro-vascular complications are revelled in 86.3 % of the cases during the postpartum and were associated with the eclampsia or preeclampsia in 90.9 % of the cases (n=40). CCT showed typical lesions of PRES in 23 patients. It confirms the presence of hematoma in the 13 patients with MCH and find hypodense lesion in one case with ischemic stroke. CCT show direct (delta sign) and indirect signs of CVT. MRI confirms the diagnostic of PRES, when done (11 of 12 cases) and show cortical sub cortical hyper signal on T2 and FLAIR and hypo signal on T1 sequences. MRI was normal in one case. It shows hemorrhagic lesion in the 2 cases of MCH, thrombosis in the cases of CVT and ischemic lesion in the cases of ischemic stroke. CCT and MRI done within 48 hours from admission were decisive for early diagnostic and for fast and adequate care. CONCLUSION: Early recognition of stroke in peri partum by cerebral imaging is of paramount importance for prompt diagnosis and treatment to improve maternal morbidity and mortality.

Hypocalcaemia due to hypoparathyroidism in ß-thalassemia major. A study of a new case.

AIM: To report a new case of hypoparathyroidism in a child with ß-thalassemia major CASE: We report a case of a 17-year-old Tunisian girl with transfusion-dependent thalassemia major presented with paresthesia and pubertal delay. Laboratory investigations showed hypocalcaemia and hyperphosphatemia. Parathyroid hormone level was low (2 ng/l, normal range: 12-72 ng/l) than expected for the degree of hypocalcaemia. Serum ferritin concentration was 1770ng/ml. The patient was started on oral daily calcium supplementation, Alfa calciferol and intensive iron chelation therapy. Follow-up after 6 and 12 months revealed normal Calcium and ECG showed QT interval within normal range. CONCLUSION: Investigating calcium homeostasis at regular intervals and early management of any abnormality can preclude the occurrence of complications.

[Intradiploic hematoma: report of two cases and review of literature]. / L'hématome intradiploïque. Deux nouveaux cas et revue de la littérature.

Diploic hematoma is an uncommon lesion which develops generally after minor head trauma. Only seven cases have been published so far and we are reporting two new cases of diploic hematoma in infancy. The diagnosis was made by computerized tomography and confirmed by histology. Diploic hematoma should be considered as part of the differential diagnosis in case of with a diploic lesion.

[Cerebellar liponeurocytoma. Case report]. / Le liponeurocytome cerebelleux: a propos d'une observation.

The cerebellar liponeurocytoma is a rarely and recently described tumour. It may be distinguished on the basis of neuroimaging findings that demonstrate the areas of fat density. Complete surgical removal with postoperative radiation therapy is recommended. It has a relatively more favourable prognosis. We report the case of a 38-year-old woman without particular pathological antecedent with a few months history of headache and dizziness, aggravated since 2 days by signs of increased intracranial pressure and cerebellar dysfunction. The Computerized Tomography practiced in emergency showed a subtentorial space occupying mass, heterogeneous, exhibiting the attenuation values of fatty tissue, with hydrocephalus upstream. The patient has been operated. The histopathological and immunohistochemical studies concluded to a cerebellar liponeurocytoma.

[Imaging diagnosis of an unilateral painful ophtalmoplegia]. / Diagnostic radiologique d'une ophtalmoplegie douloureuse unilaterale.

The ophtalmoplegia may be due to several lesions and the diagnosis is made by imaging modalities. We report the case of a giant aneurysm of the wright intracavernous internal carotid artery revealed by painful ophtalmoplegia with subarachnoid haemorrhage. The diagnosis was made by magnetic resonance imaging and angiography.

[Radiation-induced intracerebral cavernous angioma]. / Le cavernome cérébral radio-induit. A propos d'un cas.

Recently, there have been several case reports of cavernous angiomas appearing after radiation to the brain, typically in children. The time interval between irradiation and the detection of the cavernous angioma varied from three to nine years and the doses from 24 to 60 grays. We report the appearance of a cavernous malformation in a young girl 3 years after radiation therapy for a brain tumor.