Véronique Quenardelle

Stroke Mimics in a Stroke Care Pathway Based on MRI Screening.

Background: Since the use of tissue plasminogen activator for acute ischemic stroke (IS), stroke care pathways have been developed for patients with suspicion of acute stroke. The aim of this prospective observational study was to analyze the stroke mimic (SM) characteristics in patients who were part of our stroke care pathway. Methods: All consecutive patients admitted in the code stroke within a 1-year period were prospectively enrolled in this study. Patients with a sudden onset of neurological focal deficit in a time window less than 4H30 as indicated for intravenous thrombolysis, had been accepted in the pathway by a neurologist who was directly contactable by the prehospital emergency medical service 24 h per day. Patients arrived directly on the MRI site without passing by the emergency department. A clinical neurological evaluation and a brain MRI with tri-dimensional time-of-flight magnetic resonance angiography were performed. The FAST score was calculated a posteriori. The final discharge diagnosis was concluded either immediately after both neurological examination and cerebrovascular neuroimaging or after other relevant investigations. We classified the discharge diagnosis into neurovascular diseases (NVDs) and into SM. Results: There were 1,361 consecutive patients admitted for suspicion of acute stroke. Sixty-two percent (n = 840) had an NVD including IS (n = 529), transient ischemic attacks (n = 236), intracranial hemorrhages (n = 68), cerebral venous thrombosis (n = 3) and neurovascular medullar pathologies (n = 4). SM represented 38% of cases (n = 521) and the most frequent discharge diagnosis was defined as headaches (18.6%), psychological disorders (16.7%), peripheral vertigo (11.9%) and epilepsy (10.6%). The comparison between the characteristics of the NVD and those of the SM groups showed some significant differences: in the SM group, women were more represented, patients were younger and the NIHSS was lower than in the NVD group. All cardiovascular risk factors were more represented in the NVD group. Concerning the symptoms, motor deficit, speech disturbances, homonymous lateral hemianopia and head and gaze deviation were more represented in the NVD group, whereas vertigo, non-systematized visual trouble, headache, confusion, weakness, neuropsychological symptoms, seizure and chest pain were significantly more frequent in the SM group. The negative predictive value of the FAST score was 64% and the positive predictive value was 76%. Conclusions: A rate of SM up to 38% of the code stroke system confirms the difficulty to distinguish clinically a stroke from another diagnosis. In this study, using cerebral MRI in first intention was of special interest in patients with acute neurological symptoms to differentiate an NVD from an SM.

Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts

Pompe disease is a rare metabolic affection caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase encoded by the GAA gene and responsible for the degradation of lysosomal glycogen [1]. Late-onset Pompe disease (LOPD) develops in adults and is usually limited to myopathy [1]. Cardio-cerebrovascular manifestations have been described in addition to myopathy in LOPD, including heart rythm alterations, left ventricular hypertrophy, and cerebral and aortic dilated arteriopathy [2–4]. Here, we describe for the first time a patient with Pompe disease who presented with a pure vascular phenotype of the disease. A 52-year-old male caucasian patient with no past medical or family history presented with an episode of acute left abdominal pain in 2008. Abdominal magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) demonstrated a left kidney infarct, and bilateral dilative renal and iliac arteriopathy without aortic involvement (Fig. 1). Electrocardiography (EKG) and echocardiography were normal, and treatment with aspirin 160 mg/day was introduced. In 2011, he presented with another episode of acute left abdominal pain, and abdominal MRI demonstrated an enlargement of the previously known left kidney infarct. EKG and echocardiography were normal, and aspirin treatment was replaced with an oral anticoagulant, i.e. fluindione. In 2012, the patient presented with an episode of transitory aphasia. Brain MRI revealed an acute ischemic stroke in the territory of the left middle cerebral artery, and neck MRA showed bilateral dilative carotid and vertebral arteriopathy (Fig. 1). EKG and echocardiography were normal, and treatment with fluindione was maintained. Marfan syndrome, Ehlers– Danlos syndrome and Fabry disease were excluded, and Pompe disease was considered despite the patient presenting with no sign of myopathy, i.e. normal motor examination and normal creatine kinase (CK) levels, echocardiography, pulmonary function tests, and muscle biopsy. Muscle biopsy was processed with standard methods for histology, histochemistry, and electron microscopy, including periodic acid-Schiff (PAS) staining. Motor examination included manual muscle testing, timed tests (time to climb 4 steps, to rise from a chair, and to walk 10 m), motor function measurement (MFM scale), and the 6-min walking test. Acid alpha-glucosidase deficiency was found in blood lymphocytes, cultured skin fibroblasts and skeletal muscle, and the patient was a compound heterozygote for 1 previously reported pathogenic variation in intron 1 of the GAA gene (c.-32-13T[G), and 1 newly described pathogenic variation in exon 6 of the GAA gene (p.V350M, c.1048G[A) (Table 1). Two years follow-up showed no additional cerebral or kidney infarcts with oral anticoagulation. As the patient presented with no myopathy, cardiomyopathy and respiratory insufficiency, enzyme replacement therapy was not considered [5]. This is the first description of a patient with Pompe disease presenting with a generalized dilative arteriopathy V. Quenardelle (&) M. Bataillard V. Wolff A. Echaniz-Laguna Departement de Neurologie, Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, 67098 Strasbourg, France e-mail: veronique.quenardelle@chru-strasbourg.fr

Characteristics and Prognosis of Ischemic Stroke in Young Cannabis Users Compared With Non-Cannabis Users.

Stroke is considered as a leading cause of disability worldwide. Less than 15% of all ischemic stroke (IS) occurs in young adults, but the consequences in this age group are of great concern because of the longer expected survival relative to older patients [(1)][1]. The recent increased incidence

Foramen magnum dural arteriovenous fistula presenting with epilepsy.

Intracranial dural arteriovenous fistulas (dAVFs) with perimedullary drainage represent a rare subtype of intracranial dAVF. Patients usually experience slowly progressive ascending myelopathy and/or lower brainstem signs. We present a case of foramen magnum dural arteriovenous fistula with an atypical clinical presentation. The patient initially presented with a generalised tonic-clonic seizure and no signs of myelopathy, followed one month later by rapidly progressive tetraplegia and respiratory insufficiency. The venous drainage of the fistula was directed both to the left temporal lobe and to the perimedullary veins (type III + V), causing venous congestion and oedema in these areas and explaining this unusual combination of symptoms. Rotational angiography and overlays with magnetic resonance imaging volumes were helpful in delineating the complex anatomy of the fistula. After endovascular embolisation, there was complete remission of venous congestion on imaging and significant clinical improvement. To our knowledge, this is the first report of a craniocervical junction fistula presenting with epilepsy.

Subacute parkinsonism as a complication of Lyme disease

Lyme disease is a tickborne multisystemic bacterial infection due to Borrelia Burgdorferi (BB). Diagnostic criteria for neuroborreliosis are controversial but cerebrospinal fluid (CSF) analysis which demonstrates lymphocytic meningitis, positive ELISA BB serology, and positive anti-BB antibody index (AI) [defined by ratio of (ELISA titer in CSF/ELISA titer in serum) to (total IgG in CSF/total IgG in serum)] in a patient with no past history of neuroborreliosis allow, in most of the cases, the diagnosis [1], which will be supported by rapid improvement with doxycycline, ampicilline, or in neurological complications, ceftriaxone [2]. Parkinsonism has been reported in a few patients with a positive BB serology, but the relationship between BB infection and parkinsonism remains doubtful [3]. Herein, we report two patients who developed reversible subacute parkinsonism due to Lyme basal ganglia ischemic or inflammatory lesions. A 63-year-old woman developed severe walking disorders deteriorating rapidly over 6 months. Clinical examination revealed lower limbs weakness, increased reflexes, bilateral extensor plantar, and dysuria, as well as a left akineto-hypertonic syndrome (UPDRSIII 27/108) and a bilateral peripheral facial palsy. Brain MRI identified several high signal intensities on T2-weighted (T2WI) and FLAIR images in the pons, and the periventricular and subcortical white matter, consistent with vascular demyelination. Similar lesions were observed in the right lenticular nucleus and the bilateral posterior limb of the internal capsules, rather consistent with chronic infarcts (Fig. 1a, b). Spinal cord MRI showed intramedullary high signal on T2WI at the T5/T6 level (Fig. 1c), without enhancement on post-gadolinium T1-weighted images. CSF study found 17 lymphocytes/mm, 1.33 g protein/l, a 0.35 g glucose/l, and an intrathecal anti-BB antibodies synthesis with an AI at 8 (normal\2). Lyme blood serology (IgG 1160 U/ml; IgM 20 U/ml) and Western Blot (22, 41, 60, 83 kDa bands) were positive. Complete blood count, C-reactive protein, vitamins B9B12, angiotensin-converting enzyme, and ANCA levels were normal. Blood Syphilis serology and CSF BK cultures were negative. DaTscan showed a presynaptic dopaminergic denervation on the right striatum (striatum/ occipital right ratio = 2.0 and striatum/occipital left ratio = 2.7; normal [2.5). Although the patient did not reported tick bite or erythema migrans, the diagnostic of neuroborreliosis was considered very likely and she received intravenously 2 g of ceftriaxone per day for 21 days. Nevertheless, clinical improvement was weak. Follow-up brain MRI 1 month later showed new high signal intensities on T2-weighted and FLAIR images on the head of the right caudate and the anterior part of the right lenticular nuclei. These lesions demonstrated high signal intensity on diffusion-weighted images (DWI) with low ADC values, and contrast enhancement on postgadolinium T1-weighted images. These signal abnormalities were consistent with subacute infarction (Fig. 1d). Additional intramedullary high signal intensities were observed on T2-WI at C4, T3–T4, T5–T6, T7–T8, and T9, with enhancement on post-contrast T1-weighted imaging, consistent with subacute inflammatory lesions (Fig. 1e, f). Ceftriaxone treatment was extended by 21 days, & Christine Tranchant christine.tranchant@chru-strasbourg.fr