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Congenital Unilateral Perisylvian Syndrome: J Neurol Neurosurg Psychiatry: First Published As 10.1136/Jnnp.61.1.52 on 1 July 1996

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Congenital Unilateral Perisylvian Syndrome: J Neurol Neurosurg Psychiatry: First Published As 10.1136/Jnnp.61.1.52 on 1 July 1996 52 2Journal ofNeuroloD,, Neurostirgery, aoid Psychiatry 1996;61:52-56 Congenital unilateral perisylvian syndrome: J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.61.1.52 on 1 July 1996. Downloaded from radiological basis and clinical correlations G Sebire, B Husson, A Dusser, Y Navelet, M Tardieu, P Landrieu Abstract Over several years, we have identified in our Design-Advances in neuroimaging have centre a distinct group of six children presenting allowed correlations between radiological with unilateral perisylvian structural anomalies patterns and clinical features of brain on neuroimaging. The clinical and EEG fea- malformations. This paper reports clini- tures associated with this radiological pattern, cal, prognosis, and electroencephalo- together with a review of cases selected from graphic features of six children with a the medical literature, allowed us to define a previously unrecognised neuroimaging "congenital unilateral perisylvian syndrome". picture of unilateral widening and verti- calisation of the sylvian fossa associated with an abnormal ipsilateral perisylvian Patients and methods cortex. Six patients were studied between 1990 and Results-All children had reduced hemi- 1994. In five patients, MRI was performed at sphere size and thalamostriatal hypopla- 0-5 or 1-5 Tesla, with TI spin echo sequences sia ipsilateral to the cleft and hemiplegia. (TR from 400 to 650 ms, TE from 10 to 40 Cognitive development was mostly ms), T2 spin echo sequences (TR from 1500 impaired. Epilepsy occurred in two to 4000 ms, late TE from 70 to 120 ms) in patients and was mainly characterised by axial, sagittal, or coronal sections. Two chil- partial seizures. Studies with EEG dren underwent studies with Ti weighted showed hemispheric slowing of back- inversion recovery sequences (TR from 1500 ground activity homolateral to the peri- to 2500 ms, TE = 20 ms, TI from 600 to sylvian dysplasia. Occurrence of the 1000 ms). CT was performed in four patients. malformation among their siblings was All patients fulfilled the following radiological not found. criteria: (a) On one side, presence of a sulcus Conclusion-Similar brain malforma- with the location and shape of a sylvian fossa, tions occasionally reported in older but oversized, and extended vertically as patients confirm the clinical picture, spo- shown by the prolongation of the fissure on radic occurrence, and prognosis found, axial sections, at the top of the lateral ventricle allowing the validation of a unilateral and above; (b) absence of visible communica- perisylvian syndrome. tion between the fissure and the ventricle; (c) http://jnnp.bmj.com/ abnormal appearance of the ipsilateral perisyl- (3 Neurol Neurosurg Psychiatsy 1996;61:52-56) vian brain parenchyma. Other investigations included EEG studies and developmental screen by the Denver developmental screening Keywords: cerebral palsy; perisylvian dysplasia test. Karyotyping was performed by standard techniques. Advances in neuroimaging and especially in on September 25, 2021 by guest. Protected copyright. MRI have allowed the recognition of diffuse as Departement de Results Pediatrie: Service de well as localised disorganisation of cortical Neurologie architecture. Correlations between radiological Mean age at the time of the study was 18 G Sebire patterns and clinical features have led to better (range 9 to 30) months. Consanguinity or A Dusser such as bilateral clinical evidence of occurrence of the malfor- M Tardieu characterisation of disorders P Landrieu perisylvian syndrome,' 2"double cortex" syn- mation among other siblings were not found Service de Radiologie drome,'4 classic agyria-pachygyria, and atypi- (mean sibship: three (range one to seven chil- B Husson cal lissencephaly.' dren). Pregnancy was seriously disturbed at 15 Service d'Explorations Fonctionelles Neurologiques Hopital Table 1 Clinical aspects of uniilateral perisylvian dysplasia Bicetre, Le Kremlin Bicere, Paris, France Coginitve Seizures Y Navelet Age Motor developmnenit Skuill Sex Conltrol Other Correspondence to: Patielnt ('months) imlpairient DQ(") Speech Tvpe grozthz Dr G Sebire, Service de 1 22 F* RH* 100 Normal Normal -- Neurologie, Departement de 2 20 M* LH* 50 Delayed Spasms -3 SD Pediatrie, Hopital Bicetre, 78 3 9 F RLH 10 Delayed - Normal Death (9 months) rue du general Leclerc, 94275, Le Kremlin Bicktre Optic dysplasia France. 4 14 M RH 50 Delayed Normal Cedex, 5 14 M LH 100 Normal Partial + Normal Optic dysplasia Received 7 August 1995 6 30 F LH 75 Delayed Normal and in revised form 7 February 1996 *Age at last examination. Accepted 7 February 1996 H = Hemiplegia; L = left; R = right; DQ = developmental quotient. Congenital unilateral perisylvian syndrome: radiological basis and clinical correlations 53 Figure 1 EEG recorded in J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.61.1.52 on 1 July 1996. Downloaded from patient 5 (1 year old) Fp2 C4 shows assymetry of background rhythm, slower on the right side. Spike C4 02 v W\r waves are detected in the 'A right occipital region. Calibration: 1 s, 50,uV. Fp2 T4 T4 02 Fpl C3 C301 Fpl T3 __ T3 01 ' ~- i 1 1-.L. L LI weeks for patient 1 by a car crash causing mul- ipsilateral to the dysplasia (patients 2, 4, and tiple fractures of the legs in the mother. 5, fig 1) or bilateral (patient 3). Pregnancy was normal in the other patients. In patient 3, a chromosome study showed Table 1 summarises the clinical features of 46 XX inv 9 (p11; ql3). the six patients. All the children had hemiplegia Table 2 and figs 2 and 3 show neuroradio- with pyramidal symptoms contralateral to the logical features. The dysplasic sylvian fossa brain defect. Among the three patients older was enlarged, appearing as a deep cleft than 16 months, two had acquired the ability directed toward the lateral ventricle, laterally to walk. Bilateral motor anomalies were opened and vertically extended in the opercular detected only in patient 3, who had a cerebellar region. On axial sections the fissure was hemispheric and vermian hypoplasia in addi- shaped either as a straight line or as a Y, thus tion to perisylvian dysplasia. Cognitive devel- showing partial operculation. All patients, opment was impaired in most patients (four except patient 3, presented with a normal http://jnnp.bmj.com/ patients with a development quotient < 75). structure of the inferior part of the sylvian Two children (patients 3 and 5) were blind fossa. The grey matter surrounding the sylvian with a pallor of both optic discs. Patient 5 also fossa was characterised either by a thick cortical presented a right optic hypoplasia with the ribbon lacking interdigitations between grey disc a quarter of the normal size. Non-neuro- and white matter (patients 1, 2, 4, 5, and 6) or logical associated malformation was detected by a thin cortex with excessive folding of small in patient 1 (heart malformation: ventricular convoluted gyri (patient 3). In all patients the septal defect). hemisphere ipsilateral to the cleft was smaller on September 25, 2021 by guest. Protected copyright. Epileptic seizures occurred in two patients than the contralateral hemisphere (termed (table 1), in whom EEG showed active bursts hemispheric hypoplasia in table 2). All of spikes, spike waves, and slow waves pre- patients had thalamostriatal hypoplasia. The dominantly over central or occipital areas extent of striatal hypoplasia was variable, homolateral to the dysplasia; Studies with restricted to the putamen in patient 1, moder- EEG in other patients mostly showed hemi- ate in patients 4 and 6, and severe in patients 2, spheric slowing of the background activity 3, and 5 (figs 2 and 3). The brain anomalies Table 2 Radiological aspects of unilateral perisylvian dysplasia Ipsilateral anomalies Patient Perisylvian Hemispheric Basal ganglia Ventricular Contralateral No Location macrogyria hypoplasia hypoplasia widening anomalies Otherfeatures 1 L + + + + - SA 2 R + + + + - - 3 R + + + + - Calcifications, Cerebellar hypoplasia 4 L + + + + - - 5 R + + + - - CCA, SA 6 R + + + + - SA CCA = corpus callosum agenesis; L = left; R = right; SA = septal agenesis. 545Sbire, Husson, Dusser, Navelet, Tardieu, Landrieu J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.61.1.52 on 1 July 1996. Downloaded from :.- ... .... ... i.. .0n.. ::-%, A Figure 2 MRI ofpatient 5 (3 months old). (A) Coronal section shows enlargement and lack of operculation of the right sylvian fossa which is surrounded by an abnormally thick cortex. The right hemisphere has a reduced size. The septum pellucidum is not visible. The striatum and thalamus are hypoplasic on the right side. The left temporal horn is enlarged with a hypoplasic, vertically oriented hippocampus (T2 spin echo weighted image with inversed contrast improving the anatomical analysis and accounting for the unusual dark aspect of CSF and white matter; TR = 4000 ins, TE = 90 ins). (B) and (C) Sagittal sections compare the normal aspect of the left sylvian fissure (B) with the verticalised and extended aspect of the right sylvian fissure (C) (Tl spin echo weighted images). were unilateral, except in patient 5, who had enlargement of the left temporal horn with a maldeveloped, vertically oriented hippocam- pus (fig 2A). -i5.V.. 4i .- .'. I hl": 1114I ib http://jnnp.bmj.com/ on September 25, 2021 by guest. Protected copyright. Discussion The six patients displayed a congenital disor- der characterised radiologically by a recognis- able unilateral dysplasia of the sylvian region, and clinically by early hemiplegia,
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