Samy Boucebci

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

Background Autosomal dominant (AD) central core disease (CCD) is a congenital myopathy characterised by the presence of cores in the muscle fibres which correspond to broad areas of myofibrils disorganisation, Z-line streaming and lack of mitochondria. Heterozygous mutations in the RYR1 gene were observed in the large majority of AD-CCD families; however, this gene was excluded in some of AD-CCD families. Objective To enlarge the genetic spectrum of AD-CCD demonstrating mutations in an additional gene. Patients and methods Four affected AD family members over three generations, three of whom were alive and participate in the study: the mother and two of three siblings. The symptoms began during the early childhood with mild delayed motor development. Later they developed mainly tibialis anterior weakness, hypertrophy of calves and significant weakness (amyotrophic) of quadriceps. No cardiac or ocular involvement was noted. Results The muscle biopsies sections showed a particular pattern: eccentric cores in type 1 fibres, associated with type 1 predominance. Most cores have abrupt borders. Electron microscopy confirmed the presence of both unstructured and structured cores. Exome sequencing analysis identified a novel heterozygous missense mutation p.Leu1723Pro in MYH7 segregating with the disease and affecting a conserved residue in the myosin tail domain. Conclusions We describe MYH7 as an additional causative gene for AD-CCD. These findings have important implications for diagnosis and future investigations of AD-congenital myopathies with cores, without cardiomyopathy, but presenting a particular involvement of distal and quadriceps muscles.

A Rare Cause of Stroke in Young Adults: Occlusion of the Middle Cerebral Artery by a Meningioma Postpartum

Meningioma is the most common nonglial intracranial primary tumor. It is a slowly growing tumor and presents clinically by causing seizures along with neurological or neuropsychological deficit. However, acute presentation of meningioma is possible. We are reporting a case of cerebral infarction due to a sphenoid wing meningothelial meningioma (with progesterone receptor positivity) leading to an occlusion of the middle cerebral artery (MCA) in a 30-year-old right-handed woman (1 month after childbirth). After surgery, no new neurological event occurred, and she recovered most of her neurological functions. Strokes due to meningioma are a highly rare clinical occurrence but should be given serious consideration, particularly in young patients.

Multiple simultaneous intracranial hemorrhages due to hornet stings.

The most common clinical manifestations following ymenoptera stings are local reactions; the occurrence of severe llergic reactions is less frequent [1]. Non allergic reactions intravascular thrombolysis, renal failure, rhabdomyolysis and yspnea) are rare, and strokes are particularly uncommon [2]. e are reporting on a patient with both hemorrhagic (cerebral nd subarachnoid) and ischemic strokes following multiple Asian lack hornet stings.

Impact of the global outflow angle on recanalization after endovascular treatment of middle cerebral artery bifurcation aneurysms

Background and purpose Intracranial aneurysm recanalization after endovascular treatment (EVT) remains a major problem. The goal of this study was to find new predictive factors of recanalization after EVT of middle cerebral artery (MCA) bifurcation aneurysms. Methods 96 MCA bifurcationaneurysms, ruptured or unruptured, treated by EVT between Septembre 2009 and December 2014, were retrospectively included. Clinical parameters and aneurysm characteristics were recorded. From the initial three-dimensional DSA, spatial coordinates found on parent and daughter arteries of MCA bifurcations gave four different flow angle values; inflow, outflows 1 and 2, and the global outflow angle (the sum of the two outflow angles). Inter- and intra-observer reproducibilities of three-dimensional angle value measurements were performed. Results Recanalization occurred in 25 cases (26%) and retreatment was performed in 11 cases (11%). Only 1 patient (1%) had rebleeding. Univariate analysis established the following as predictive factors of recanalization: high blood pressure (P=0.014), aneurysm height (P<0.001), aneurysm width (P<0.001), neck size (P<0.001), postoperative occlusion class (P=0.040), percentage of packing volume (P<0.001), as well as the two outflow angles (P=0.006 and 0.045), and the global outflow angle (P<0.001). Multivariate analysis revealed two independent risk factors for recanalization: the global outflow angle (OR=1.05; 95% CI 1.02 to 1.08; P<0.002) and aneurysm width (OR=0.67; 95% CI 0.46 to 0.96; P=0.031). A global outflow angle threshold <192° was found to be a risk factor for recanalization (OR=13.75; 95% CI 4.46 to 42.44), with a sensitivity of 80% and specificity of 77%. Conclusions This study emphasizes that a new parameter, the global outflow angle, can be predictive of recanalization for MCA bifurcation aneurysms treated by EVT.

A 75-year-old man with treatable progressive quadriparesis: answer

MRI showed diffuse cervical cord swelling and enlarged anterior spinal medullary veins. These abnormalities were suggestive of intracranial dural arterio-venous fistula (DAVF) with perimedullary venous drainage, confirmed by cerebral angiography. The fistula was fed by the middle meningeal artery and the left superior cerebellar artery (Fig. 1). Embolization of the middle meningeal artery using Onyx (ev3 Endovascular, Plymouth, MN, USA) unfortunately failed. Instead transarterial embolization of the left cerebellar artery was achieved using Histoacryl (TissueSeal, Ann Arbor, MI, USA). After 1 year, the patient could comfortably walk without a mobility device. MRI and brain angiography showed disappearance of the spinal cord swelling and of the DAVF (Fig. 2). Intracranial DAVF type V result from an abnormal communication between intracranial meningeal arteries and spinal perimedullary veins [1]. The arterialized spinal veins lead to congestive edema and subsequent ischemia of the spinal cord, causing myelopathy [2]. Various etiologies are postulated, including cerebral vein thrombosis, head trauma, and increased systemic thrombotic activity [3]. MRI findings are signal abnormalities of the spinal cord, enlarged perimedullary vessels, and cord enlargement [4]. An accurate diagnosis is established by cerebral angiography, and not by spinal angiography. First line of treatment is endovascular obliteration of the DAVF and the predictive factor

A 75-year-old man with treatable progressive quadriparesis: question

A75-year-oldmanwas admitted to the department of neurology with a 1 year history of progressively worsening gait disturbance and painful paresthesia of all four limbs. His past medical history included hypertension and moderate hemophilia A. Physical examination revealed spastic quadriparesis with sphincter disorder andweakness of the lower limbswhenwalking for a fewmeters. No sensory level was clearly noted. Cranial nerve examination was normal. A clinical diagnosis of cervical myelopathy was made with imaging confirmation 6 months previously but a definite cause was not found. MRI of the spine showed extensive diffuse cervical cord swelling (Fig. 1). MRI of the brain was normal. The patient had not received any corticosteroid therapy prior to imaging.