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Lissencephaly LE JOURNAL CANADIEN DES SCIENCES NEUROLOGIQUES Lissencephaly MARGARET G. NORMAN, MAUREEN ROBERTS, J. SIROIS, L. J. M. TREMBLAY SUMMARY: The first reported case of tic heterogeneity. Lissencephaly and INTRODUCTION lissencephaly resulting from a consan- pachygyria may eventually be shown to Lissencephaly (agyria) is charac­ guinous union strengthens the supposi­ be due to different causes, some inher­ terized by a smooth brain, without tion that in some cases, it is transmitted ited, some acquired. The classical ex­ sulci or gyri. The microscopic as an autosomal recessive trait. Com­ amples of lissencephaly are different parison of this case with a sporadically morphologically from a case in which an­ anatomy of the cortex varies, some occuring case of lissencephaly, with dif­ tenatal cytomegalovirus infection had cases showing no laminae, others ferent cortical morphology, suggests produced a small smooth brain. This four laminae. Associated abnormal - that lissencephaly may be an example of suggests that antenatal viral infections ities are masses of heterotopic grey either varying gene expressivity or gene- are destructive rather than teratogenic. matter around the ventricles. Heterotopias of the inferior olivary nuclei and cerebellar roof nuclei are RESUME: Le premier cas de ment, il sera peut-etre demontre que la frequently present. Pachygyria is a lissencephalie resultant d'une union lissencephalie et la pachygyrie sont dues morphologically similar anomaly in consanguine renforcit I'hypothese qu'au a des causes differentes, certaines etant which the brain has wide simple moins dans certain cas la lissencephalie hereditaires, d'autres etant acquises. est transmise par un trait autosomal Les examples classiques de gyri. Some have regarded lissence­ recessif. La comparaison de ce cas avec lissencephalie sont differents mor- phaly and pachygyria as similar dis­ un autre cas d'occurence sporadique phologiquement d'un cas d'infection a orders, a difference of degree rather presantant des differences morphologi- cytomegalovirus du prepartum aboutis- than kind (Crome, 1956; Hanaway et ques au niveau cortical, suggere que la sant a la formation d'un petit cerveau a al, 1968). Daube and Chou (1966) lissencephalie pourrait etre un example surface lisse, suggerant que les infec­ proposed pathologic and clinical soil d'expressivitee genetique variable tions in utero sont destructrices plutot criteria for separating lissencephaly soil de genes heterogenes. Event uelle- que teratoginiques. from pachygyria. They thought that lissencephaly could be recognized clinically. Features of the "lissencephaly syndrome" include a distinctive facies, with high forehead, slight ante-version of nostrils, slight up­ ward palpebral slant, widely spaced eyes, micrognathia, and abnormal lowset ears (Dieker et al., 1969). Other abnormalities are microceph­ aly, decerebrate posture, severe motor retardation, seizures before one year of age, lack of response to the environment, failure to thrive, recurrent infection and death before two years of life. Other visceral anomalies may be present. From the Divisions of Pathology and Genetics, Eleanor M. Paterson Laboratory, Children's Hospi­ Pneumoencephalograms show en­ tal of Eastern Ontario, Ottawa, and Departments of larged ventricles (colpocephaly, per­ Pathology and Pediatrics, University of Ottawa, On­ tario; and Departments of Pathology, Sacre Coeur sistence of a fetal situation rather Hospital, Hull, Quebec and St. Andrews Hospital, than true hydrocephalus) and ab­ Midland, Ontario. sence of air over the cerebral con­ Presented in part at the joint meeting of the vexities (Daube and Chou, 1966). Pediatric Pathology Club and Pediatric Pathology Electroencephalogram (EEG) shows Society, Toronto, Ontario. September 28-30, 1975. hypsarrhythmia (Harper, 1967). Reprint requests to Dr. M. G. Norman, Children's The cause of lissencephaly has Hospital of Eastern Ontario, 401 Smyth Rd. Ottawa, Ont. KIH 8L1 Canada. been regarded as a failure of FEBRUARY 1976 - 39 Downloaded from https://www.cambridge.org/core. IP address: 170.106.202.126, on 01 Oct 2021 at 12:09:48, subject to the Cambridge Core terms of use, available at https://www.cambridge.org/core/terms. https://doi.org/10.1017/S0317167100025981 THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES brother and sister who died in in­ fancy were said to be exactly like this infant. Two first degree cousins D- -O who were also related through both parents were also said to "be the same". They were children of a con- & -a ^ sanguinous mating and all four par­ ents had one common ancestor (Fig. •a 1). Unfortunately, necropsies were D-K5 616 6TD \h 4> 6 not performed so a diagnosis of D-K3 & 6 'iwb 5u^i.6o6dn6 n .,',.H.» ' J huh oiSjj A ^microcephaly >^ |~H retarded Figure /—Case 1. Pedigree. Proband (arrow) is only case with necropsy diagnosis of lissencephaly. The other affected infants are said to have been "just the same". neuronal migration, with production cm., head circumference was 26.5 of a four-layered cortex similar to cm. On admission he was obviously that of a 50-100 mm. foetus (Hana- microcephalic with a small forehead, way et al., 1968). It has been sug­ and almost closed anterior fon­ gested that factors intrinsic or ex­ tanels. His eyes were wideset, his trinsic to the neurons could cause jaw small and receding. There was such a failure of migration (see questionable pallor of the optic Hanaway et al., 1968 and Stewart et nerves. Chorioretinitis was absent. al., 1975 for an historical account of His pupils were small and fixed. The these suggestions). bridge of the nose was flattened and Our paper reports two cases of lis­ the right side of the mouth was sencephaly, one occurring in a con- twitching. Moro and grasp reflexes sanguinous union, strengthening the were absent, the sucking reflex evidence for autosomal recessive weak. A short chordee was present. transmission. These two cases are The little fingers were in-curved. In­ compared with a third, in which a vestigations for cytomegalic inclu­ small smooth brain resulted from an­ sion disease and rubella were nega­ tenatal cytomegalovirus (CMV) in­ tive. Chromosomes were normal fection. This brain is quite different 46XY. Dermatoglyphics showed from lissencephaly. whorls on nine fingertips and a bilateral atd angle of 60°. Case No. I While in hospital the infant had This male infant was the fifth born continual twitching of the ex­ to a 31-year-old mother. Gestation tremities and occasional convul­ lasted 36 weeks; the Apgar at birth sions. He was placed on diphenylhy- was unrecorded; the infant cried dantoin and phenobarbitol which spontaneously before a minute and failed to control these seizures. He required no resuscitation. Birth fed poorly and required gavaging. weight was 2460 grams. The infant He was discharged and died at home was transferred at birth for investig­ at two months of age. ation of microcephaly and convul­ The parents are first cousins. The sions. Crown-heel length was 51 proband was the fifth child. An older 40 - FEBRUARY 1976 Lissencephaly Downloaded from https://www.cambridge.org/core. IP address: 170.106.202.126, on 01 Oct 2021 at 12:09:48, subject to the Cambridge Core terms of use, available at https://www.cambridge.org/core/terms. https://doi.org/10.1017/S0317167100025981 LE JOURNAL CANADIEN DES SCIENCES NEUROLOGIQUES Figure 2—Case 1. Coronal sections of cerebral hemispheres. Figure 5—Case 2. Hemisphere section. Note paucity of myelin JL in centrum semiovale (Luxol fast blue — cresyl violet). lissencephaly could not be made in could not be differentiated from the The fourth was cellular. The third these four other children. The living as yet unmyelinated centrum semi­ and fourth layers together were retarded cousin's dermatoglyphics ovale and it was impossible to dis­ about as thick as the molecular also showed ten whorls. cern the internal architecture of the layer. Occasional large pyramidal Necropsy showed the immediate central nuclei. The ventricles were neurons were present in the third cause of death was broncho­ slightly enlarged. Horizontal sec­ and fourth layers. There was pneumonia. There was an increased tions of the brainstem and cerebel­ neuronal loss and gliosis in the number of obolescent glomeruli in lum showed poor myelination. hippocampal end plate and Somer's the kidney. The brain weighed 98 Microscopic examination showed sector, attributed to seizures. grams (normal for age 516 grams). abnormal cortex. It had four layers. The unmyelinated white matter The thickened leptomeninges con­ The first corresponded to a normal under the cortex contained many tained tortuous, congested vessels. molecular layer. Next there was a myelination glia and occasional large It was difficult to strip the lep- superficial broad cellular band which heterotopic neurons. A Luxol fast tomenings from the underlying was two to three times the width of blue (LFB) stain showed slight brain. The underlying hemisphere the molecular layer. In this layer myelination of the centrum was smooth without gyri or sulci. most of the neurons were small, but semiovale with more myelin in the There was a smooth depression in large pyramidal neurons were scat­ region of the internal capsule. the region of the insula. Coronal sec­ tered through it at all levels, includ­ Myelination in the hemisphere was tions of the cerebral hemispheres ing superficially (Fig. 3). Most of the consistent with age. again showed the smooth outer sur­ large pyramidal neurons were in this The basal ganglia and thalamus face of the brain (Fig. 2). The cortex layer. The third layer was cell poor. were normal. Large round masses of Norman et al FEBRUARY 1976 - 41 Downloaded from https://www.cambridge.org/core. IP address: 170.106.202.126, on 01 Oct 2021 at 12:09:48, subject to the Cambridge Core terms of use, available at https://www.cambridge.org/core/terms. https://doi.org/10.1017/S0317167100025981 THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES heterotopic grey matter lay under cles and olivary fleece were poorly left. During deep sleep, bilateral the ventricular surface.
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