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Table 38-1 Classi cation of congenital neurologic disorders I Neurologic disorders associated with craniospinal deformities A Enlarged head (see also Table 38-2) 1 Hydrocephalus 2 Hydranencephaly 3 Macrocephaly B Craniostenoses 1 Turricephaly 2 Scaphocephaly 3 Brachycephaly C Disturbances of neuronal formation and migration 1 Anencephaly 2 Lissencephaly, holoprosencephaly, and gyral malformations D Microcephaly 1 Primary (vera) 2 Secondary to cerebral disease E Combinations of cerebral, cranial, and other anomalies 1 Syndactylic craniocerebral anomalies 2 Other craniofacial anomalies 3 Oculoencephalic defects 4 Oculoauriculocephalic anomalies 5 Dwar sm 6 Dermatocephalic anomalies F Rachischisis 1 Cephalic and spinal meningocele, meningoencephalocele, Dandy-Walker syndrome, meningomyelocele 2 Chiari malformation 3 Platybasia and cervical-spinal anomalies (Chap 45) G Chromosomal abnormalities II The phakomatoses (see Table 38-4) A Tuberous sclerosis B Neuro bromatosis C Cutaneous angiomatosis with CNS abnormalities III Restricted developmental abnormalities of the nervous system A Focal cortical dysgenesis B Mobius syndrome C Congenital apraxia of gaze D Other restricted congenital abnormalities (Horner syndrome, unilateral ptosis, anisocoria, etc) IV Congenital abnormalities of motor function (cerebral palsy) A Subependymal (matrix) hemorrhage B Cerebral spastic diplegia C Infantile hemiplegia, double hemiplegia, and quadriplegia D Congenital extrapyramidal disorders (double athetosis; erythroblastosis fetalis and kernicterus) E Congenital ataxias F The accid paralyses V Prenatal and paranatal infections A Rubella B Cytomegalic inclusion disease C Congenital neurosyphilis D HIV infection and AIDS E Toxoplasmosis F Other viral and bacterial infections VI Epilepsies of infancy and childhood VII Mental retardation
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A textbook on principles of neurology is not the place in which to present a detailed account of all the hereditary and congenital developmental abnormalities that might affect the nervous system For such details, the interested reader should refer to several excellent monographs Three that the authors recommend are Brett s Pediatric Neurology, Berg s Principles of Child Neurology, and Lyon and Evrard s Neuropediatrie These are supplemented by special atlases of congenital malformations mentioned further on In this chapter we sketch only the major groups and discuss in detail a few of the more common disease entities The classi cation in Table 38-1 adheres to a grouping in accordance with the main presenting abnormality or abnormalities Represented here are the common problems that lead families to seek consultation with the pediatric neurologist: (1) structural defects of the cranium, spine, and limbs, and of eyes, nose, ears, jaws, and skin; (2) disturbed motor function taking the form of retarded development or abnormal movements; (3) epilepsy; and (4) mental retardation The following discussion focuses on each of these clinical states
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A majority of the disorders in this group are due to a genetic error, including those with a speci c chromosomal abnormality, or to some unknown factor One has only to walk through an institution
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for the mentally retarded to appreciate the remarkable number and diversity of physical dis gurements that attend abnormalities of the nervous system Smith, in the third edition of his monograph on the patterns of human malformations, listed 345 distinctive syndromes; in the fourth edition (edited by K L Jones, 1988), many new ones were added Indeed, a normal-appearing and severely retarded individual stands out in such a crowd and will frequently be found to have an inherited metabolic defect or birth injury The intimate relationship between the growth and development of the cranium and that of the brain deserves comment In embryonic life the most rapidly growing parts of the neural tube induce special changes in and at the same time are in uenced by the overlying mesoderm (a process known as induction); hence abnormalities in the formation of skull, orbits, nose, and spine are regularly associated with anomalies of the brain and spinal cord During early fetal life the cranial bones and vertebral arches enclose and protect the developing brain and spinal cord; throughout the period of rapid brain growth, as pressure is exerted on the inner table of the skull, the latter accommodates to the increasing size of the brain This adaptation is facilitated by the membranous fontanels, which remain open until maximal brain growth has been attained; only then do they ossify (close) In addition, stature is controlled by the nervous system, as shown by the fact that a majority of mentally retarded individuals are also stunted physically to a varying degree Thus disorders of craniovertebral development assume importance not merely be-
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