Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.

INTRODUCTION: Leukoencephalopathy with calcifications and cysts (LCC) is a rare autosomal recessive cerebral angiomatous-like microangiopathy characterized by diffuse and asymmetric white-matter lesions associated with multiple calcifications and cysts. The disease is caused by SNORD118 mutations. The entire clinical spectrum of LCC is not yet fully determined. MATERIAL AND METHODS: To define the clinical spectrum of LCC, we analyzed data from recently diagnosed cases and from the litterature. Both clinical and imaging features from our five LCC cases harboring compound heterozygous SNORD118 mutations were presented and all cases reported in the litterature reviewed. RESULTS: Ninety-two LCC cases including our five patients were identified. Consanguinity was rare (4%), and 97% of cases were symptomatic. Mean age of first clinical manifestations was 16.1±16.1 years (range 1 month-71 years) and was earlier in men (10.3±14.3 years) than in women (20.2±22.8 years) (P=0.02). The main inaugural symptoms were seizures (36%; mean age at onset: 5.2±9.5 years) and progressive neurological symptoms including ataxia, dystonia and spasticity (26%; 27.8±23.6 years). Intracranial hypertension was less frequently observed (14%), mostly in adults (mean age 31.5±13.2 years). Ischemic or hemorrhagic strokes were inaugural symptoms in two adults (2%). During follow-up, most patients developed progressive extrapyramidal, cerebellar and pyramidal signs (83%), cognitive decline (56%), seizures (37%), intracranial hypertension (30%) or stroke (2%). CONCLUSION: In LCC, the clinical spectrum is largely heterogeneous and the course of the disease appears highly variable in contrast to other hereditary cerebral small vessel diseases.

Thrombolysis in Stroke Patients with Isolated Aphasia.

BACKGROUND: Data about evolution of aphasia following stroke are rare and controversial especially following fibrinolysis. The aim of this study was to describe the early clinical patterns of isolated aphasia in consecutive stroke patients with or without thrombolysis. METHODS: Clinical and radiological data of consecutive stroke patients were routinely entered in prospective registry. Patients were considered aphasic when NIHSS (National Institutes of Health Stroke Scale) item 9 >0. 'Isolated aphasia' was defined by aphasic patients without motor limb deficit. We created a 'composite language score' obtained by summing the NIHSS items 1b, 1c and 9, which reflects language-processing ability. Recovery of functions was evaluated as measured by global NIHSS, composite language score and language screening test (LAST) at baseline, H24 and day 7 (D7). 'Mild deficit' was defined as global NIHSS <5. RESULTS: A total of 100 consecutive patients met study criteria for isolated aphasia. Twenty-five underwent thrombolysis and 75 did not. There was no difference between the 2 groups concerning demographic characteristics, involved territories and presence of arterial occlusion, initial median NIHSS, composite language and LAST scores at entrance. Evolution was significantly better in thrombolysed patient for the 3 testings: NIHSS, composite language score and LAST at D7 (respective p = 0.0002; p = 0.01 and p = 0.004). Similar results were found when we focused on the subgroups of patients with initial 'mild' deficits (p = 0.01; p = 0.0003 and p = 0.007). No symptomatic hemorrhagic transformation occurred following thrombolysis. CONCLUSION: These data strongly suggest that thrombolysis is safe and effective in patients with 'isolated aphasia,' even if the global NIHSS score is <5.

Significance of acute multiple infarcts in multiple cerebral circulations on initial diffusion weighted imaging in stroke patients.

OBJECTIVES: We attempted to assess the frequency, clinical and neuroradiological features of concomitant Acute Multiple Infarcts in Multiple Cerebral Circulations (AMIMCC) and to classify their causes. SUBJECTS AND METHODS: Consecutive patients treated for MR DWI-confirmed infarcts were included in this cohort. We retrospectively analyzed all patients with AMIMCC of our prospective database, studying clinical and radiological features. Causes of stroke were classified using TOAST and ASCO system (atherosclerosis, small vessel disease, cardiac source, other causes). RESULTS: Eighty AMIMCC were identified out of 824 consecutive patients with MR DWI-confirmed infarcts (9.7%). Compared with single infarct patients, AMIMCC patients presented similar age and risk factors. Only 24 AMIMCC patients (30%) presented symptoms suggesting multiple lesions before MRI. Cardiac origin existed in 39 of 80 patients (49%) including atrial fibrillation in 25 patients. Other sources of AMIMCC were hematologic diseases or coagulopathies such as intravascular coagulation in relation with cancer (n = 6; 7,5%) and vasculitis or systemic disorders (n = 5;6,5%). AMIMCC also appeared to originate from unilateral carotid diseases or intracranial stenosis, mostly atheromatous, in association with anatomic variations(n = 9;11%). In 21 patients, no cause was identified despite extensive investigations (26%). According to TOAST classification, 62% had a definite source for infarcts, 67% according to ASCO grade 1 classification. MRI data did not permit to orientate etiological explorations according to DWI appearance, associated leucoaraiosis or previous infarcts on FLAIR or microbleeding on gradient-echo sequences. CONCLUSIONS: AMIMCC are not rare and mostly need MRI to be detected. Multiple and various etiologies are implicated, including cardioembolic diseases in half of them, but also hematologic disorders and angeitis.

Chronic paroxysmal hemicrania in a patient with a macroprolactinoma.

We report a patient with headaches meeting the criteria of chronic paroxysmal hemicrania, as defined by the International Headache Society classification. Headaches were fully responsive to indomethacin during the first 3 months of treatment but recurred when daily doses were lowered. Investigations revealed a macroprolactinoma. Headaches stopped after cabergoline treatment. This report further suggests that patients with paroxysmal hemicrania should be investigated for pituitary abnormalities.

Headache as the only neurological sign of cerebral venous thrombosis: a series of 17 cases.

BACKGROUND: Headache is the most frequent symptom in cerebral venous thrombosis (CVT), and usually the first. However, it has rarely been reported as the only symptom of CVT. OBJECTIVES: To study the characteristics of patients in whom headache was the only presentation of CVT in the absence of intracranial hypertension, subarachnoid haemorrhage (SAH), meningitis, or other intracranial lesion. METHODS: From a prospective study of 123 consecutive patients with CVT only those with isolated headache and normal brain computed tomography (CT) scan and cerebrospinal fluid (CSF) examination were included in the present study. All patients underwent an extensive systematic aetiological work-up and were given intravenous heparin followed by oral anticoagulants. A detailed description of the headache was obtained. RESULTS: Headache was only sign of CVT in 17 patients. The lateral sinus was the most frequently involved sinus (n = 15). Onset of headache was progressive in 11, acute in 3, and thunderclap in 3 patients. Once established, the headache was continuous in 15, diffuse in four and unilateral in 13, usually ipsilateral to the occluded lateral sinus. No specific risk factor or cause was found. All had a favourable evolution. CONCLUSION: The pathogenesis of isolated headache in CVT in the absence of intracranial hypertension, SAH, meningitis or intracerebral lesion is unknown but may involve changes in the walls of the occluded sinus. Hence MRI/MRV should be used to look for signs of CVT in all patients with recent headache (progressive or thunderclap) even when the CT scan and CSF examination are normal.