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Lissencephaly

Lissencephaly, which literally means smooth brain, is a rare brain formation disorder characterized by the lack of normal convolutions (folds) in the brain. It is caused by defective neuronal migration, the process in which nerve cells move from their place of origin to their permanent location. It is a form of cephalic disorder. more...

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The surface of a normal brain is formed by a complex series of folds and grooves. The folds are called gyri or convolutions, and the grooves are called sulci. In children with lissencephaly, the normal convolutions are absent or only partly formed, making the surface of the brain smooth. Terms such as 'agyria' (no gyri) or 'pachygyria' (broad gyri) are used to describe the appearance of the surface of the brain

Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, and severe psychomotor retardation. Anomalies of the hands, fingers, or toes, muscle spasms, and seizures may also occur.

Lissencephaly may be diagnosed at or soon after birth. Diagnosis may be confirmed by ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI).

Lissencephaly may be caused by intrauterine viral infections or viral infections in the fetus during the first trimester, insufficient blood supply to the baby's brain early in pregnancy, or a genetic disorder. There are a number of genetic causes of lissencephaly, but the two most well documented are - X-linked and chromosome 17-linked. Genetic counseling and genetic testing, such as amniocentesis, is usually offered during a pregnancy if lissencephaly is detected. The recurrence risk depends on the underlying cause.

The spectrum of lissencephaly is only now becoming more defined as neuroimaging and genetics has provided more insights into migration disorders. There are around 20 different types of lissencephaly which make up the spectrum. Other causes which have not yet been identified are likely as well.

Lissencephaly may be associated with other diseases including isolated lissencephaly sequence, Miller-Dieker syndrome, and Walker-Warburg syndrome.

Treatment for those with lissencephaly is symptomatic and depends on the severity and locations of the brain malformations. Supportive care may be needed to help with comfort and nursing needs. Seizures may be controlled with medication and hydrocephalus may require shunting. If feeding becomes difficult, a gastrostomy tube may be considered.

The prognosis for children with lissencephaly varies depending on the degree of brain malformation. Many individuals show no significant development beyond a 3- to 5-month-old level. Some may have near-normal development and intelligence. Many will die before the age of 2, but with modern medications and care, children can live into their teens. Respiratory problems are the most common causes of death.

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Population based, prospective study of the care of women with epilepsy in pregnancy
From British Medical Journal, 9/16/00 by Susan D Fairgrieve

This prospective, population based study in the former Northern health region was designed to establish the proportion of pregnant women with a history of epilepsy; doctors supervising their care; effectiveness of preconceptional counselling and control of epilepsy; and use of medication and pregnancy outcomes.

Subjects, methods, and results

The project had approval from regional ethics committees. Pregnant women with epilepsy were recruited to the study, predominantly by community midwives. Women who consented were interviewed by using a standard questionnaire. Hospital notes were reviewed after the women had given birth. General practice and hospital notes were checked in one area to confirm the women's response regarding preconceptional advice. Between 1 January 1997 and 31 December 1998, 400 notifications of pregnancies to women with epilepsy were received (the total number of livebirths, stillbirths, and medical terminations for this period was 65 478, giving a proportion of all pregnancies to women with epilepsy of 6.1/1000).

Three hundred women were interviewed, 60 did not consent to interview, contact was unsuccessful for 36, and 4 were notified retrospectively. Epilepsy management was undertaken by general practitioners in 182/300 (61%) women; 214/300 (71%) reported ongoing seizures; and 53/252 (21%) women taking antiepileptic drugs reported no seizures for [is greater than] 2 years. A history of epilepsy was reported by 48 women who no longer took antiepileptic drugs. Of the remaining 252, 210 (83.3%) were on monotherapy, most often carbamazepine (52%) and sodium valproate (35%). The diagnosis of epilepsy was questionable in 16/300 (5%) women. Incomplete compliance with medication was reported by 157/252 (62.3%) women.

Only 113/300 (38%) women recalled receiving preconceptional counselling. However, review of the notes of 25 women who denied having received advice showed that 8 (32%) had been counselled. Less than 50% (88/199) planned their pregnancies and 27/111 reported oral contraceptive failure. Only 32 (11%) took folate appropriately.

Of the 359/400 known pregnancy outcomes there were 330 live births (three sets of twins); two medical terminations, two stillbirths, 22 miscarriages, and five terminations.

The obstetric complication rate and mode of delivery were similar to that of the background population except for an excess of premature deliveries (8.2%).[1] One woman drowned in the bath while pregnant and another died five months post partum after a seizure, a death rate of 1 in 200. (No abnormal outcomes from the remaining 41/400 pregnancies were notified to the regional maternity survey office.) Vitamin K was given as recommended to 87/244 (36%) babies. Malformations were more common in babies born to mothers with epilepsy (20/400 (5%; 95% confidence interval, 3.1% to 7.6%) than in the background population (2.4%; 2.32% to 2.46%; odds ratio 2.15 (1.30 to 3.37), P=0.0037) (table).[2] Four affected infants were among 48 born to women not taking drugs (8%, P=0.055). The malformation rate in babies born to treated women was 16/352 (4.55%, P=0.024).[2]

(*) Mother has insulin dependent diabetes mellitus in addition to epilepsy.

([dagger]) This child, a boy, has X-linked lissencephaly, and his mother has subcortical band heterotopia on MRI manifesting clinically as epilepsy.

Comment

The study shows that guidelines in the literature for the management of women with epilepsy are not being followed.[3 4] Most women with epilepsy in our region are supervised by their general practitioner, control of seizures is poor, compliance with medication is variable, and methods of preconceptional counselling are ineffective. Less than 50% of these pregnancies are planned, partly because of oral contraceptive failure. The malformation rate in their infants is double that of the background population, and not all malformations are attributable to antiepileptic drugs.[2] Most published guidelines are targeted at neurologists,[3 4] thereby failing to improve management of women under the care of their general practitioner. Considerable expansion of epilepsy services in primary and secondary care is needed if the guideline recommendations[3 4] are to be achieved.[5]

Contributors: SDF, MJ, and SAL were the lead investigators and wrote the paper. PJ, KW, TLM, and JB contributed to the design of the study and the collection of data and commented on drafts of the paper. DW carried out statistical analysis and commented on drafts of the paper. SDF, MJ, and SAL will act as guarantors for the paper.

Funding: SDF and PJ were funded for two years by Wellbeing and for one year by the Purchasers Clinical Auditors Group (of health authorities in the former Northern region).

Competing interests: MJ has given educational lectures for Janssen Cilag, GlaxoWellcome, and Sanofi Winthrop. SDF gave an educational lecture for Janssen Cilag, JB has given four lectures for GlaxoWellcome, GlaxoWellcome and Parke-Davies have funded MJ to attend four epilepsy conferences in four years. MJ has contributed to a clinical trial for Novonordisk. GlaxoWellcome, Sanofi Winthrop, and Parke-Davies have contributed 26 500 [pounds sterling] for equipment and a salary for a nurse to set up an epilepsy service coordinated by MJ. Sanofi Winthrop has contributed 2100 [pounds sterling] to pay for equipment for a related study coordinated by SAL. MJ has contributed to one advisory panel for Novartis. GlaxoWellcome was a donor, through its charitable arm, to the matching funds for the millennium landmark, Centre for Life, which includes the Institute of Human Genetics.

[1] Regional Maternity Survey Office. The Northern Perinatal Mortality Survey Annual Report--1995. Newcastle upon Tyne: Regional Maternity Survey Office.

[2] Regional Maternity Survey Office. Northern Regional Congenital Abnormality Survey (NorCAS) report 1991-1995. Newcastle upon Tyne: Regional Maternity Survey Office.

[3] Wiebe S. Managing women with epilepsy. BMJ 2000;320:3-4.

[4] Wallace H, Shorvon SD, Hopkins A. O'Donoghue M. Adults with poorly controlled epilepsy. London: Royal College of Physicians, 1997.

[5] Ridsdale L, Robins D, Cryer C, Williams H. Feasibility and effects of nurse run clinics for patients with epilepsy in general practice: randomised controlled trial. BMJ 1997;314:120-2.

(Accepted 28 March 2000)

Department of Human Genetics, Royal Victoria Infirmary, Newcastle upon Tyne NE2 4AA

Susan D Fairgrieve genetic nurse specialist

Patricia Jonas research midwife

Tara L Montgomery specialist registrar in clinical genetics

John Burn professor of clinical genetics

Sally A Lynch consultant clinical geneticist Department of Neurology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP

Margaret Jackson consultant neurologist

Kathleen White specialist registrar in neurology

Department of Statistics, University of Newcastle upon Tyne NE1 7RU

David Walshaw lecturer in medical statistics

Correspondence to: S Fairgrieve JohnBurn@newcastle.ac.uk

BMJ 2000;321:674-5

COPYRIGHT 2000 British Medical Association
COPYRIGHT 2000 Gale Group

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