Developmental anomalies of the brain in mental retardation

Intuitively it is understood that persons with mental retardation must have 'something' different about the structure and organization of the central nervous system. In the past, defining what that something might be was usually a high cost, low yield endeavour. Recent advances in neuroimaging techniques have greatly enhanced our ability to identify structural changes in CNS development that correlate closely with the patient's neurodevelopmental abnormalities.In this article we review the most common identifiable developmental CNS anomalies seen in patients with mental retardation.We describe both overt (gross) malformations and the more recently appreciated'subtle markers of cerebral dysgenesis'.For selected conditions we also discuss recent insights into the etiologic and pathogenetic basis of the condition from many of the exciting new developments in molecular biology.

[1]  J. Bodensteiner,et al.  Macro cisterna magna: a marker for maldevelopment of the brain? , 1988, Pediatric neurology.

[2]  P. Barnes,et al.  Colpocephaly: Frequency and Associated Findings , 1988, Journal of child neurology.

[3]  W. Tatum,et al.  The open opercular sign: Diagnosis and significance , 1989, Annals of neurology.

[4]  G. Bradley Schaefer,et al.  Quantitative Morphometric Analysis of Brain Growth Using Magnetic Resonance Imaging , 1990, Journal of child neurology.

[5]  J. Bodensteiner,et al.  Wide cavum septum pellucidum: a marker of disturbed brain development. , 1990, Pediatric neurology.

[6]  J. Bodensteiner,et al.  Colpocephaly: Pitfalls in the Diagnosis of a Pathologic Entity Utilizing Neuroimaging Techniques , 1990, Journal of child neurology.

[7]  J. Bodensteiner,et al.  Hypoplastic Corpus Callosum in Ocular Albinism: Indication of a Global Disturbance of Neuronal Migration , 1990, Journal of child neurology.

[8]  J N Thompson,et al.  Age-Related Changes in the Relative Growth of the Posterior Fossa , 1991, Journal of child neurology.

[9]  J. Bodensteiner,et al.  Clinical and morphometric analysis of the hypoplastic corpus callosum. , 1991, Archives of neurology.

[10]  J. Bodensteiner,et al.  The Cavum Septi Pellucidi; A Magnetic Resonance Imaging Study of Prevalence and Clinical Associations in a Pediatric Population , 1991 .

[11]  J. Bodensteiner,et al.  The Cavum Septi Pellucidi in Term and Preterm Newborn Infants , 1992, Journal of child neurology.

[12]  L. Carmant,et al.  Developmental bilateral perisylvian dysplasia. , 1992, Pediatric neurology.

[13]  J. Bodensteiner,et al.  Evaluation of the child with idiopathic mental retardation. , 1992, Pediatric clinics of North America.

[14]  R. Kuzniecky,et al.  Congenital bilateral perisylvian syndrome: study of 31 patients , 1993, The Lancet.

[15]  D. Chitayat,et al.  Evidence for multi-site closure of the neural tube in humans. , 1993, American journal of medical genetics.

[16]  [Aspects of long-term management of children with myelomeningocele. Analysis of the last 10 years from the neuropediatric-neurosurgical viewpoint]. , 1993, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

[17]  J. Bodensteiner,et al.  Subtle Anomalies of the Septum Pellucidum and Neurodevelopmental Deficits , 1994, Developmental medicine and child neurology.

[18]  J. Bodensteiner,et al.  Cerebral dysgenesis. An overview. , 1994, Neurologic clinics.

[19]  J. Bodensteiner,et al.  Hypoplasia of the Corpus Callosum: A Study of 445 Consecutive MRI Scans , 1994, Journal of child neurology.

[20]  K. Jones,et al.  Smith's Recognizable Patterns of Human Malformation , 1996 .

[21]  A. Barkovich,et al.  Pediatric congenital bilateral perisylvian syndrome: clinical and MRI features in 12 patients. , 1997, Neuropediatrics.

[22]  M. Yamasaki,et al.  CRASH syndrome: mutations in L1CAM correlate with severity of the disease. , 1997, Neuropediatrics.

[23]  S Schwartz,et al.  Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. , 1997, American journal of medical genetics.

[24]  J. Bodensteiner,et al.  Macrocerebellum: Neuroimaging and Clinical Features of a Newly Recognized Condition , 1997, Journal of child neurology.

[25]  D. Ledbetter,et al.  Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. , 1997, Human molecular genetics.

[26]  J. Bodensteiner,et al.  Dementia Pugilistica and Cavum Septi Pellucidi: Born to Box? , 1997, Sports medicine.

[27]  R. D'Hooge,et al.  Genotype-phenotype correlation in L1 associated diseases. , 1998, Journal of medical genetics.

[28]  A. Czeizel Periconceptional folic acid containing multivitamin supplementation. , 1998, European journal of obstetrics, gynecology, and reproductive biology.

[29]  J. Bodensteiner,et al.  Does selection bias determine the prevalence of the cavum septi pellucidi? , 1998, Pediatric neurology.

[30]  J. Bodensteiner,et al.  Radiological findings in developmental delay. , 1998, Seminars in pediatric neurology.

[31]  J. Bodensteiner,et al.  Cavum Septi Pellucidi and Cavum Vergae in Normal and Developmentally Delayed Populations , 1998, Journal of child neurology.

[32]  M. Muenke,et al.  Holoprosencephaly: from Homer to Hedgehog , 1998, Clinical genetics.

[33]  Y. Berwald‐Netter,et al.  A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome , 1998, Cell.