London, United Kingdom 2013 Poster Session Red Cerebrovasc Dis 2013; 35 (suppl 3)1-854 347 124 Interesting and challenging cases A novel heterozygous c.164G>C mutation in the exon 2 of the NOTCH3 gene causing CADA-SIL R. Hourez1, K. Papadopoulos2, G. Bruninx3, N. Lannoy4, Y. Sznajer5 CHU Charleroi, Charleroi, BELGIUM1, CHU Charleroi, Charleroi, BELGIUM2, CHU Charleroi, Charleroi, BELGIUM3, Centre de Génétique Humaine - UCL, Brussels, BELGIUM4, Centre de Génétique Humaine - UCL, Brussels, BELGIUM5 Background: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients caused by more than 50 distinct mutations in the NOTCH3 gene. Methods: A 57 year-old woman with past medical history of strokes, hypercholesterolemia, cigarette smoking and depression woke up with severe gait impairment. Examination showed cognitive im-pairment (MoCA 17/30), left upper limb dysmetria, bilateral pyramidal syndrome, ataxic and spastic gait, the tandem walk test was impossible to perform and the Romberg’s test demonstrated falls to the right (eyes opened and closed). Results: CT showed marked periventricular leucoencephalopathy, lacunar infarct in the pons and calcification of the globus pallidus. MRI showed an acute ischemic lesion in the posterior limb of the right internal capsule, multiple subcortical and pontine lacunar lesions, cortico-subcortical atro-phy and striking confluent patches of high-signal change on T2/Flair images throughout the white matter, especially in the anterior part of the temporal lobes and the periventricular portion of the oc-cipital lobes. Cardiac work up and lumbar puncture were unremarkable. Sequencing of the splicing sites and coding exons 2,3,4,5,6,11,12,18,19,20 and 23 of the NOTCH3 gene found a new missense mutation c.164G>C in exon 2. At the protein level, the mutation is predicted to cause the replace-ment of the 55th amino acid cysteine (TGC) by a serine (TCC): p.Cys55Ser. Genetic, clinical and radiological study of family members is ongoing. Conclusion: We report a novel c.164G>C mutation in the NOTCH3 gene of a 57 year old patient with clinical and MRI findings typical for CADASIL. Atypical basal ganglia calcification was ob-served. 125 Interesting and challenging cases Multiple lobar haemorrhages induced by systemic rtPA treatment, revealed a cerebral amy-loid angiopathy in a healthy non-previous demented patient. A. Rodríguez-Campello1, A. Gómez González2, J. Capellades3, E. Cuadrado Godia4, A. Ois5, E. Giralt6, J . Jiménez Conde7, E. Muiño8, I. Navalpotro9, J. Roquer10 Stroke Unit. IMIM-Hospital del Mar, Barcelona, SPAIN1, Stroke Unit. IMIM-Hospital del Mar, Barcelona, SPAIN2, Neuroradiology-Hospital del Mar, Barcelona, SPAIN3, Stroke Unit. IMIM-Hos-pital del Mar, Barcelona, SPAIN4, Stroke Unit. IMIM-Hospital del Mar, Barcelona, SPAIN5, Stroke Unit. IMIM-Hospital del Mar, Barcelona, SPAIN6, Stroke Unit. IMIM-Hospital del Mar, Barcelona, SPAIN7, Stroke Unit. IMIM-Hospital del Mar, Barcelona, SPAIN8, StrokezUnit. IMIM-Hospital del Mar, Barcelona, SPAIN9, Stroke Unit. IMIM-Hospital del Mar, Barcelona, SPAIN10 Background: It has been suggested that clinically silent microbleedings may be a marker of in-creased risk of intracranial haemorrhage in patients receiving thrombolytic therapy for acute isch-emic stroke, but data regarding the risk are limited because MRI is not commonly performed before thrombolysis. Large numbers of microbleeds suggest cerebral amyloid angiopathy (CAA), and may be a predisposing factor for the haemorrhagic complications after thrombolysis. CAA is not a formal contraindication to avoid thrombolytic treatment. We describe a patient without haemorrhagic stroke or cognitive symptoms who developed multiple lobar haemorrhages after intravenous thrombolytic therapy. Methods: 79 year-old man with a history of hypertension and aspirin treatment, with no previous history of cognitive impairment. He developed a sudden left hemiparesis, and was admitted 60 min-utes after the beginning of the symptoms. Initial NIHSS score was 4. The clinical diagnosis was of a right MCA acute stroke. Results: CT scan showed no ischemic or haemorrhagic lesions, and had no occlusions in CT angiog-raphy. The patient met all the criteria for rtPA treatment and 60 mg of alteplase were administered. After treatment, he presented recovery from almost every initial symptoms (NIHSS 1). Patient was monitored at the stroke unit without any neurological deterioration. A CT Scan 24 hours after rtPA showed several lobar hematomas in different territories, at both hemispheres. MRI revealed multiple acute intraparenchymal lobar hematomas with associated countless cortical and subcortical micro bleeds in T2*-weighted gradient echo sequences. After two days, the patient developed a frontal dis-order that was partially contained with quetiapine. Conclusion: Multiple lobar haemorrhagic lesions after thrombolysis are suggestive of AAC, and a study of MRI is necessary. Despite the present case, the prior existence of microbleeds cannot be considered an exclusion criterion for thrombolytic therapy.
Karger_ESC London_2013
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