[Family impact of FXTAS diagnosis: genetic counseling for at-risk relatives]. / Conséquences familiales du diagnostic de FXTAS: le conseil génétique aux apparentés à risque.

INTRODUCTION: Fragile X associated Tremor/Ataxia Syndrome (FXTAS) is related to premutation expansions of the FMR1 gene, including 55 to 200 CGG repeats, whereas full expansions, over 200 repeats, cause Fragile X mental retardation. FXTAS is observed in about one-third of men with premutation, generally in their 1950s and over, and less commonly in women. It is characterized by action tremor, ataxia, cognitive, parkinsonism, behavioral difficulties, autonomic dysfunction and peripheral neuropathy. Brain magnetic resonance imaging (MRI) often shows symmetric increases in T2-weighted signal intensity in the middle cerebellar peduncles. The diagnosis of FXTAS in a patient raises important family issues. CASE REPORT: A 47-year-old male patient complained of an abnormal hearing sensation and dizziness for several months. Neurological examination was normal. Brain MRI showed the common signal intensity in middle cerebellar peduncles and bilateral punctual increases in T2-weighted signal intensity in the cerebral white matter. Genetic analysis showed 87CGG repeats, in favor of a possible FXTAS. At the time of diagnosis, fragile X syndrome was subsequently suspected and confirmed in his 10-month-old grandson. DISCUSSION: Due to X-linked inheritance and to the specific related mutational mechanism, the diagnosis of FXTAS in a patient raises major issues for relatives over several generations, including males and females, who should be considered as obligate or potential premutation carriers. Premutated females are not only at risk of transmitting a full mutation to their children but also of developing Fragile X related premature ovarian failure (FXPOI) that may influence their choices in family planning. CONCLUSION: The diagnosis of FXATS in a patient should induce delivery of extensive information and genetic counseling for potential carrier relatives.

[Intra-cavernous aneurysm of the internal carotid artery complicating sphenoid sinusitis]. / Anévrysme de la carotide interne intra-caverneuse compliquant une sinusite sphénoïdale.

INTRODUCTION: Mycotic or post-infectious aneurysm of the intra-cavernous portion of the internal carotid artery is uncommon. CASE REPORT: We report here the case of a patient who developed progressive left ophthalmoplegia, with left hemi-crania three weeks after a tooth extraction. The patient was febrile. Neuroradiological and microbiological analysis led to the diagnosis of sphenoidal and ethmoidal sinus infection with extension to the left cavernous sinus. An aneurysm of the intra-cavernous portion of the left internal carotid artery was also found. CONCLUSIONS: The risk of rupture for this kind of aneurysm is difficult to assess. Treatment always consists in prolonged and adapted antibiotic therapy. For certain patients neurosurgical or endovascular repair is necessary. We followed our patient for four Years without surgical intervention. The diameter of the aneurysm has remained stable.

Course of valvular strands in patients with stroke: cooperative study with transesophageal echocardiography.

BACKGROUND: Native valve strands might be related to the acute stage of thrombosis or might suggest a long-term valvular change. We aimed to estimate changes in the strands in patients with stroke through a serial transesophageal echocardiographic (TEE) study. METHODS AND RESULTS: A study was conducted among patients who were referred for TEE for stroke or cardiac pathology. Patients had TEE examinations with a 5-MHz multiplane TEE probe. Echocardiography was repeated 3 months later in patients with stroke. TEE was performed in 180 patients admitted to cardiology units and in 160 patients referred to neurology units. Among 34 patients with valvular strands, 30 were referred to neurology for stroke, whereas 4 patients were admitted to cardiology (18.8% versus 2.2%, difference 16.5%, 95% confidence interval 10% to 22.9%, P =.001). Strands were located on the mitral valve in 16 patients, the aortic valve in 6 patients, and both left heart valves in 8 patients. Among the 38 valves with strands, 17 (44. 7%) were morphologically normal, 4 (10.5%) were thickened, 7 (18.4%) were redundant, and 10 (26.3%) had both abnormalities. TEE showed other abnormalities in 16 (53.3%) patients, whereas 14 patients had only strands. Twenty-six (86.6%) patients had a second TEE study 3 months later. Strands were not found in 4 (15.4%) patients (95% confidence interval 4.3% to 34.9%). CONCLUSIONS: Valvular thickening or redundancy may predispose valves to strand formation. Native valve strands usually persist and thus reflect a chronic valvular change.

[Intramedullary tuberculoma: a case report]. / Tuberculome intramédullaire. Un cas.

A fifty-year-old Portuguese man presented with a six-month history of low back pain, which initially was mechanical and slowly became inflammatory. Secondarily, he complained of right atypical sciatalgia. He did not report any fever, loss of weight, cough nor personal or familial history of tuberculosis. General examination was normal. Neurologic examination showed weakness of the extensors of the right leg, with a symmetric increased reflexes of the lower extremities suggesting a pyramidal syndrome without Babinski's sign. Laboratory data were normal as well as chest radiographs. Dorsolumbar gadolinium enhanced MRI revealed an intramedullary ringlike enhancing mass at T12 level. Lumbar puncture showed 11 WBC/mm3 (95 p. 100 lymphocytes), a normal protein and glucose content. PCR and culture for Mycobacterium tuberculosis were negative. Within a few days, he developed meningoencephalitis with fever, CSF examination revealed then 360 WBC/mm3 (65 p. 100 lymphocytes and 17 p. 100 neutrophils), a protein content of 7 g/l and a glucose level of 1.7 mmol/l. The clinical picture was then suggestive of tuberculosis and a specific therapy with rifampin, izoniazid, pyrazinamid, ethambutol and steroids was started. Clinical improvement and a second CSF culture that revealed one month later Mycobacterium tuberculosis complex confirmed this diagnosis. Ten months later, the patient was asymptomatic with a normal MRI. To our knowledge, this is the first total recovery of an intramedullary tuberculoma on medical therapy alone, confirmed by MRI normalization. We reviewed also 19 recent cases of tuberculomas in the literature, intending a therapeutic attitude when discovering an intramedullary ringlike enhancing mass on MRI.

Gliomatosis cerebri: a rare cause of progressive headache.

A 49-year-old right-handed woman was admitted for an 8-month history of unusual headache and transient diplopia. Clinical examination and brain CT scan were normal. Two months later, symptoms of raised intracranial pressure developed and a brain CT scan showed small lateral ventricles and sulci without any abnormal contrast enhancement or tumor mass. Brain MRI with T2-weighted spin echo sequences revealed a hyperintense signal in the right temporoparietal region, whereas only a slight enlargement of this region was noted on T1 spin echo. The patient deteriorated rapidly and died with uncontrollable raised cerebrospinal fluid pressure. The diagnosis of gliomatosis cerebri was made at necropsy. Gliomatosis cerebri is a rare intracranial neoplasm of neuroepithelial origin. Spread of this tumor is particularly fast in the white matter compared with the gray matter and nuclei. Clinical symptoms are not specific. The diagnosis can be suspected by MFU showing an isointense or hypointense signal in the deep white matter on T1-weighted images, and largely a hyperitense signal on T2-weighted sequences. The diagnosis is confirmed by stereotactic biopsy or necropsy. No curative treatment is currently available. Radiotherapy can delay the rapidly fatal outcome. Our case illustrates the possible onset of this rare disease by isolated cephalgia with normal early CT scan.