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CLINICAL and DIAGNOSTIC FEATURES in Lissencephaly TYPE I

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CLINICAL and DIAGNOSTIC FEATURES in Lissencephaly TYPE I CLINICAL AND DIAGNOSTIC FEATURES IN liSSENCEPHALY TYPE I (Klinische en diagnostische kenmerken van lissencephaly type I) Proefschrift ter verkrijging van de graad van doctor aan de Erasmus Universiteit Rotterdam op gezag van de rector magnificus Prof. Dr. CJ. Rijnvos en volgens het besluit van het college van dekanen. De openbare verdediging zal plaatsvinden op woensdag 16 januari 1991 om 13.45 uur Johanna Frederika de Rijk-van Andel geboren te Rotterdam v.0'\lersite1t& ~...("'"'-!) ()Ji>UKKE~) 1990 Department of Neurology University Hospital Dijkzigt, Rotterdam Promotor: Prof.Dr. A. Staal Co-promotor: Dr. W.F.M. Arts Overige !eden promotiecommissie: Prof.Dr. P.G. Barth Prof.Dr. M.F. Niermeyer Prof.Dr. A.C. van Huffelen The End It is time for me to go, mother; I am going. When in the paling darkness ofthe lonely dawn you stretch out your arms for your baby in the bed, I shall say, "Baby is not there!" - mother I am going. I shall become a delicate draught of air and caress you; and I shall be ripples in the water when you bathe, and kiss you and kiss you again. In the gusty night when the rain patters on the leaves you will hear my whisper in your bed, and my laughter will flash with the lightning through the open window into your room. If you lie awake, thinking of your baby till late into the night, I shall sing to you from the stars, "Sleep mother, sleep." On the straying moonbeams I shall steal over your bed, and lie upon your bosom while you sleep. I shall become a dream, and through the little opening ofyour eyelids I shall slip into the depths ofyour sleep; and when you wake up and look round startled, like a twinkling firefly I shall flit out into the darkness. When, on the great festival ofpuja, the neighbours' children come and play about the house, I shall melt into the music of the flute and throb in your heart all day. Dear auntie will come with puja-presents and will ask, "Where is your baby, sister?" Mother you will tell her softly, "He is in the pupils ofmy eyes, he is in my body and in my soul." Rabindranath Tagore [113] This thesis was kindly supported by: Dr. Eduward Hoelen Stichting Ariens Kappers Fonds Het Wetenschappelijk Fonds Westeinde Ziekenhuis Den Haag Cover Design: Frank Gerhard de Rijk Desk Top Publishing: Betty Mast Naskah promosi ini dipersembahkan kepada yang percinta Frank (Ibu Sri Wahju) CONTENTS GENERAL INTRODUCTION . 1 Chapter 1.......................................................... 3 A SURVEY OF LISSENCEPHALY DEFIN1TIONS................................................ 3 DEVELOPMENT OF THE BRAIN . 3 PATHOLOGY OF NEURONAL MIGRATION . 4 CLASSIFICATION AND CLIN1CAL SIGNS . 6 GENETIC STUDIES . 8 EPIDEMIOLOGY . 8 Chapter 2 . 11 EPIDEMIOLOGY OF LISSENCEPHALY TYPE I INTRODUCTION . 11 MATERIAL AND METHODS . 11 Data collection . 11 Diagnosis . 12 Data analysis . 12 Clinical characteristics . 12 Family histories . 12 RESULTS ................................................... 13 Prevalence . 13 Determinants in space . 13 Survival . 13 Predictors of prognosis . 13 Family histories . 13 DISCUSSION . 14 Chapter 3 . 15 DIAGNOSTIC FEATURES AND CLINICAL SIGNS IN 21 PATIENTS WITH LISSENCEPHALY TYPE I INTRODUCTION . 15 Histology . 15 Gross brain morphology . 16 Somatic and facial dysmorphology . 16 Cytogenetics . 16 Present study . 16 PATIENTS AND METHODS .................................... 17 Case reports . 17 RESULTS ................................................... 20 DISCUSSION . 22 Pregnancy . 23 Facial dysmorphisms ..................· . 23 Distinction between ILS and MDS . 24 Age ..................................................... 24 Retardation ..................,· . , . 24 Epilepsy . 25 Unclassified forms of type I lissencephaly . 26 Chapter 4 . 27 EEG AND EVOKED POTENTIALS IN A SERIES OF 21 PATIENTS WITH LISSENCEPHALY TYPE I INTRODUCTION . 27 MATERIAL AND METHODS ..........• . 28 Patients .........................· . 28 Acquisition and analysis of BEG's and Evoked Potentials . 29 RESULTS ................................................... 30 DISCUSSION . 32 Chapter 5 . 35 NEUROIMAGING IN LISSENCEPHALY TYPE I INTRODUCTION . 35 MATERIAL AND METHODS . 36 Data collection of patients . 36 Measurements . 37 RESULTS ................................................... 39 DISCUSSION . 40 Chapter 6 . 41 STUDIES WITH DNA-MARKERS IN PATIENTS WITH LISSENCEPHALY TYPE I AND OTHER CORTICAL DYSPLASIAS INTRODUCTION . 41 MATERIAL AND METHODS . 42 Clinical data . 42 Methods.................................................. 43 Contents RESULTS ................................................... 43 DISCUSSION . 44 Chapter 7 . 47 CLINICAL AND CHROMOSOME STUDIES IN THREE PATIENTS WITH THE SMITH-MAGENIS SYNDROME INTRODUCTION . 47 CASE REPORTS .............................................. 47 DISCUSSION . 50 GENERAL DISCUSSION . 53 SUMMARY ........................................................ 55 SAMENVATIING . 57 REFERENCES ...................................................... 61 ACKNOWLEDGEMENTS . 69 LIST OF PUBLICATIONS . 71 CURRICULUM VITAE . 73 GENERAL INTRODUCTION The incentive to start this study in 1986 were two patients with lissencephaly, observed during my training as a neurologist. Such an exceptional occasion prompted an attempt to collect a large group of patients with lissencephaly type I, a rare congenital disorder, in order to increase our knowledge about epidemiology, clinical signs, neurophysiological and neuro-imaging characteristics, and genetic aspects. Thanks to the cooperation of many colleagues in departments of childneurology in the Netherlands, it became possible to collect the patients described in this thesis. In Chapter 1 a survey of the present knowledge concerning lissencephaly is given. The differences between lissencephaly type I and type II are explained. This thesis concerns the type I only. Chapter 2 deals about the epidemiology of lissencephaly and is probably the first study about the prevalence at birth and the survival rate of lissencephaly type I. The clinical details of the patients studied are presented in Chapter 3. The diagnostic methods in lissencephaly type I are explored in Chapter 4 (neurophysiology) and in Chapter 5 (neuroimaging). A special type of lissencephaly type I, the Miller-Dieker syndrome, has recently become related to a deletion of the short arm of chromosome 17. In Chapter 6 the details of cytogenetical and DNA-studies are described. Chapter 7 reports three patients with the Smith-Magenis syndrome, which is also characterized by a deletion of a part of the short arm of chromosome 17. 1 Chapter 1 A SURVEY OF LISSENCEPHALY DEFINITIONS The word 'lissencephaly' is a description derived from normal embryologic development, where 'lissos' means smooth and 'encephalon' means brain. In small lower animals the lissencephalic, smooth brain without sulci, is the normal state.[89] Gyrencephaly, the presence of sulci, is characteristic for larger animals, including humans. It is peculiar to name a serious developmental disorder of the human brain after the normal state of lower animals. Some authors use the term lissencephaly for both agyria (meaning no gyri), pachygyria (meaning few gyri) as well as for polymicrogyria (meaning very small gyri). Agyria and pachygyria differ in degree only. Polymicrogyria, in which an.
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