A search of Medline at Indiana University, Bloomington, Indiana
< Record 1 of 12 in MEDLINE(R) on CD 2002/01
TITLE: Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
AUTHOR: Weller,-S; Gartner,-J
ADDRESS OF AUTHOR: Department of Pediatrics, Heinrich Heine University, Dusseldorf, Germany.
SOURCE: Hum-Mutat. 2001; 18(1): 1-12
INTERNATIONAL STANDARD SERIAL NUMBER: 1098-1004
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental retardation, spastic paraplegia, and adducted thumbs. The responsible gene, L1CAM, encodes the L1 protein which is a member of the immunoglobulin superfamily of neuronal cell adhesion molecules. The L1 protein is expressed in neurons and Schwann cells and seems to be essential for nervous system development and function. The patients' gene mutations are distributed over the functional protein domains. The exact mechanisms by which these mutations cause a loss of L1 protein function are unknown. There appears to be a relationship between the patients' clinical phenotype and the genotype. Missense mutations in extracellular domains or mutations in cytoplasmic regions cause milder phenotypes than those leading to truncation in extracellular domains or to non-detectable L1 protein. Diagnosis of patients and carriers, including prenatal testing, is based on the characteristic clinical picture and DNA mutation analyses. At present, there is no therapy for the prevention or cure of patients' neurological disabilities. Copyright 2001 Wiley-Liss, Inc.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-genetics; *Hydrocephalus-genetics; *Linkage-Genetics-genetics; *Membrane-Glycoproteins-genetics; *Mutation-genetics; *Neural-Cell-Adhesion-Molecules-genetics; *X-Chromosome-genetics
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-diagnosis; Abnormalities,-Multiple-physiopathology; Genotype-; Hydrocephalus-diagnosis; Hydrocephalus-physiopathology; Introns-genetics; Membrane-Glycoproteins-chemistry; Molecular-Sequence-Data; Neural-Cell-Adhesion-Molecules-chemistry; Phenotype-; Polymorphism-Genetics-genetics; RNA-Splice-Sites-genetics; Syndrome-
CHECKTAGS: Human
PUBLICATION TYPE: Journal-Article; Review; Review,-Academic
SUBHEADINGS: diagnosis; genetics; physiopathology; chemistry
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0
NAME OF SUBSTANCE: L1-antigen; Membrane-Glycoproteins; Neural-Cell-Adhesion-Molecules; RNA-Splice-Sites
SECONDARY SOURCE IDENTIFIER: GENBANK/M77640; GENBANK/Z29373
SUBSET: Index-Medicus
UPDATE CODE: 20011212
ACCESSION NUMBER: 21331684
RECORD FEATURES: ABSTRACT (AB)
Record 2 of 12 in MEDLINE(R) on CD 2002/01
TITLE: Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature.
AUTHOR: Capovilla,-G; Lorenzetti,-M-E; Montagnini,-A; Borgatti,-R; Piccinelli,-P; Giordano,-L; Accorsi,-P; Caudana,-R
ADDRESS OF AUTHOR: Department of Child Neuropsychiatry, C. Poma Hospital, Mantova, Italy. pippo.capovilla@libero.it
SOURCE: J-Child-Neurol. 2001 May; 16(5): 382-6
INTERNATIONAL STANDARD SERIAL NUMBER: 0883-0738
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: Seckel's syndrome is a rare form of primordial dwarfism, characterized by peculiar facial appearance. In the past, this condition was overdiagnosed, and most attention was given to the facial and skeletal features to define more precise diagnostic criteria. The presence of mental retardation and neurologic signs is one of the peculiar features of this syndrome, but only recently were rare cases of malformation of cortical development described, as documented by magnetic resonance imaging (MRI). Here, we present three new cases of Seckel's syndrome showing different malformations of cortical development (one gyral hypoplasia, one macrogyria and partial corpus callosum agenesis, and one bilateral opercular macrogyria). We hypothesize that the different types of clinical expression of our patients could be explained by different malformation of cortical development types. We think that MRI studies could be performed in malformative syndromes because of the possible correlations between type and extent of the lesion and the clinical picture of any individual case.
MAJOR MESH DESCRIPTORS: *Bone-Diseases-complications; *Brain-abnormalities; *Mental-Retardation-complications; *Microcephaly-complications
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple; Adolescence-; Child,-Preschool; Magnetic-Resonance-Imaging; Syndrome-
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; abnormalities
SUBSET: Index-Medicus
UPDATE CODE: 20011207
ACCESSION NUMBER: 21283682
RECORD FEATURES: ABSTRACT (AB)
Record 3 of 12 in MEDLINE(R) on CD 2001
TITLE: Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.
AUTHOR: Al-Gazali,-L-I; Padmanabhan,-R; Melnyk,-S; Yi,-P; Pogribny,-I-P; Pogribna,-M; Bakir,-M; Hamid,-Z-A; Abdulrazzaq,-Y; Dawodu,-A; James,-S-J
ADDRESS OF AUTHOR: Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates. algazali@hotmail.com
SOURCE: Am-J-Med-Genet. 2001 Oct 1; 103(2): 128-32
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: The association of neural tube defects (NTDs) with Down syndrome (trisomy 21) and altered folate metabolism in both mother and affected offspring provide a unique opportunity for insight into the etiologic role of folate deficiency in these congenital anomalies. We describe here the case of a male child with trisomy 21, cervical meningomyelocele, agenesis of corpus callosum, hydrocephaly, cerebellar herniation into the foramen magnum, and shallow posterior cranial fossa. Molecular analysis of the methylenetetrahydrofolate (MTHFR) gene revealed homozygosity for the mutant 677C-->T polymorphism in both the mother and child. The plasma homocysteine of the mother was highly elevated at 25.0 micromol/L and was associated with a low methionine level of 22.1 micromol/L. Her S-adenosylhomocysteine (SAH) level was three times that of reference normal women, resulting in a markedly reduced ratio of S-adenosylmethionine (SAM) to SAH and significant DNA hypomethylation in lymphocytes. The child had low plasma levels of both homocysteine and methionine and a reduced SAM/SAH ratio that was also associated with lymphocyte DNA hypomethylation. In addition, the child had a five-fold increase in cystathionine level relative to normal children, consistent with over-expression of the cystathionine beta synthase gene present on chromosome 21. We suggest that altered folate status plus homozygous mutation in the MTHFR gene in the mother could promote chromosomal instability and meiotic non-disjunction resulting in trisomy 21. Altered folate status and homozygous TT mutation in the MTHFR gene in both mother and child would be expected to increase the risk of neural tube defects. The presence of both trisomy 21 and postclosure NTD in the same child supports the need for an extended periconceptional period of maternal folate supplementation to achieve greater preventive effects for both NTD and trisomy 21. Copyright 2001 Wiley-Liss, Inc.
MAJOR MESH DESCRIPTORS: *Amine-Oxidoreductases-genetics; *Down-Syndrome-pathology; *Folic-Acid-metabolism; *Neural-Tube-Defects-pathology
MINOR MESH DESCRIPTORS: Amine-Oxidoreductases-metabolism; Amino-Acids,-Sulfur-blood; Consanguinity-; DNA-genetics; DNA-metabolism; DNA-Methylation; Down-Syndrome-enzymology; Down-Syndrome-genetics; Genotype-; Infant-; Mutation-; Neural-Tube-Defects-enzymology; Neural-Tube-Defects-genetics; Polymorphism-Genetics
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; metabolism; blood; enzymology; pathology
CAS REGISTRY NUMBER OR EC NUMBER: 0; 59-30-3; 9007-49-2; EC 1.5.; EC 1.5.1.20
NAME OF SUBSTANCE: Amino-Acids,-Sulfur; Folic-Acid; DNA; Amine-Oxidoreductases; methylene-THF-reductase-(NADPH)
SUBSET: Index-Medicus
UPDATE CODE: 20011025
ACCESSION NUMBER: 21452272
RECORD FEATURES: ABSTRACT (AB)
Record 4 of 12 in MEDLINE(R) on CD 2001
TITLE: Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].
AUTHOR: Zannolli,-R; Mostardini,-R; Pucci,-L; Sorrentino,-L; Biagioli,-M; Perotti,-R; Guarna,-M; Hadjistilianou,-T; Zerega,-G; Pierluigi,-M; Franco,-B; D'Ambrosio,-A; Morgese,-G
ADDRESS OF AUTHOR: Department of Pediatrics, University of Siena, Italy. zannolli@unisi.it
SOURCE: Am-J-Med-Genet. 2001 Jul 22; 102(1): 29-35
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region. Copyright 2001 Wiley-Liss, Inc.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple-genetics; *Corpus-Callosum-abnormalities; *Cysts-pathology; *Eye-Abnormalities-pathology; *Skin-Abnormalities-pathology; *Translocation-Genetics
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-pathology; Chromosome-Banding; Chromosomes,-Human,-Pair-14-genetics; Chromosomes,-Human,-Pair-5-genetics; Cytogenetic-Analysis; Diagnosis,-Differential; In-Situ-Hybridization,-Fluorescence; Infant-; Karyotyping-; Mutation-; Skin-pathology; Skin-ultrastructure
CHECKTAGS: Case-Report; Female; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; pathology; abnormalities; ultrastructure
SUBSET: Index-Medicus
UPDATE CODE: 20011119
ACCESSION NUMBER: 21362907
RECORD FEATURES: ABSTRACT (AB)
Record 5 of 12 in MEDLINE(R) on CD 2001
TITLE: [Corpus callosum agenesis]
AUTHOR: Ishikiriyama,-S
ADDRESS OF AUTHOR: Division of Medical Genetics, Chiba Children's Hospital.
SOURCE: Ryoikibetsu-Shokogun-Shirizu. 2001; (33): 493-5
PUBLICATION YEAR: 2001
LANGUAGE: Japanese; Non-English
COUNTRY OF PUBLICATION: Japan
MAJOR MESH DESCRIPTORS: *Corpus-Callosum-abnormalities
PUBLICATION TYPE: Journal-Article; Review; Review,-Tutorial
SUBHEADINGS: abnormalities
SUBSET: Index-Medicus
UPDATE CODE: 20011004
ACCESSION NUMBER: 21355760
Record 6 of 12 in MEDLINE(R) on CD 2001
TITLE: Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.
AUTHOR: Thauvin-Robinet,-C; Rousseau,-T; Durand,-C; Laurent,-N; Maingueneau,-C; Faivre,-L; Sagot,-P; Nivelon-Chevallier,-A
ADDRESS OF AUTHOR: Centre de Genetique, Hopital d'Enfants, Dijon, France. christelthauvin@hotmail.com
SOURCE: Prenat-Diagn. 2001 Jun; 21(6): 466-70
INTERNATIONAL STANDARD SERIAL NUMBER: 0197-3851
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: England
ABSTRACT: Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly.
MAJOR MESH DESCRIPTORS: *Brain-abnormalities; *Genetic-Counseling; *Orofaciodigital-Syndromes-ultrasonography; *Ultrasonography,-Prenatal
MINOR MESH DESCRIPTORS: Brain-embryology; Brain-pathology; Magnetic-Resonance-Imaging; Orofaciodigital-Syndromes-genetics; Orofaciodigital-Syndromes-pathology; Pedigree-; Pregnancy-Trimester,-Third
CHECKTAGS: Case-Report; Female; Human; Pregnancy
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; embryology; pathology; genetics; ultrasonography
SUBSET: Index-Medicus
UPDATE CODE: 20010913
ACCESSION NUMBER: 21332242
RECORD FEATURES: ABSTRACT (AB)
Record 7 of 12 in MEDLINE(R) on CD 2001
TITLE: Congenital hereditary endothelial dystrophy and band keratopathy in an infant with corpus callosum agenesis.
AUTHOR: Akhtar,-S; Bron,-A-J; Meek,-K-M; Bennett,-K
ADDRESS OF AUTHOR: Department of Optometry and Vision Science, University of Wales Cardiff, Cardiff, United Kingdom.
SOURCE: Cornea. 2001 Jul; 20(5): 547-52
INTERNATIONAL STANDARD SERIAL NUMBER: 0277-3740
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: PURPOSE: To report the features of a syndrome of endothelial failure and band-shaped keratopathy in an infant with corpus callosum agenesis. METHODS: The clinical and histopathologic features of an infant presenting with bilateral corneal clouding and corpus callosum agenesis are reported. The patient underwent bilateral penetrating keratoplasty at ages 28 months and 4 years. Light and electron microscopy were used to characterize the structural changes. RESULTS: The epithelium was thin and degenerate. Bowman's membrane contained spherical aggregates that were present also within a connective tissue pannus. The midstroma was normal, but there were floral and rope-like aggregations of collagen in the pre-Descemet's membrane region. Under electron microscopy, the spherules formed target-shaped lesions with a central focus of alternating electron-dense and lucent material. Numerous microfilaments in the pannus and anterior stroma labeled with fibrillin-1 antibody. Microfilaments within fibroblasts were stained with vimentin antibody. Posteriorly, the endothelium was mainly absent and Descemet's membrane showed a fetal layer and a posterior collagenous layer. CONCLUSION: Corneal appearances in this patient were in keeping with those of congenital hereditary endothelial corneal dystrophy. However, there was no family history and neither parent showed a clinical endothelial abnormality. The presence of fetal, banded material in Descemet's membrane suggested that endothelial loss began at or near the time of birth. The band keratopathy was regarded as a secondary change. The association with corpus callosum agenesis does not appear to have been described previously.
MAJOR MESH DESCRIPTORS: *Corneal-Dystrophies,-Hereditary-pathology; *Corpus-Callosum-abnormalities; *Endothelium,-Corneal-pathology
MINOR MESH DESCRIPTORS: Corneal-Dystrophies,-Hereditary-metabolism; Corneal-Dystrophies,-Hereditary-surgery; Corpus-Callosum-radiography; Endothelium,-Corneal-metabolism; Infant-; Keratoplasty,-Penetrating; Microfilament-Proteins-metabolism; Microscopy,-Immunoelectron; Neoplasm-Proteins-metabolism; Tomography,-X-Ray-Computed; Vimentin-metabolism
CHECKTAGS: Case-Report; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: metabolism; pathology; surgery; abnormalities; radiography
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 148710-76-3
NAME OF SUBSTANCE: Microfilament-Proteins; Neoplasm-Proteins; Vimentin; fibrillin; betaIG-H3-protein
SUBSET: Index-Medicus
UPDATE CODE: 20010823
ACCESSION NUMBER: 21305899
RECORD FEATURES: ABSTRACT (AB)
Record 8 of 12 in MEDLINE(R) on CD 2001
TITLE: Ressonancia Magnetica fetal.
[Fetal magnetic resonance]
AUTHOR: Vilela,-P; Duarte,-J; Goulao,-A
ADDRESS OF AUTHOR: Servico de Neurorradiologia, Hospital Garcia de Orta, Almada Centro de Ressonancia Magnetica de Caselas, Lisboa.
SOURCE: Acta-Med-Port. 2001 Jan-Feb; 14(1): 77-81
INTERNATIONAL STANDARD SERIAL NUMBER: 0870-399X
PUBLICATION YEAR: 2001
LANGUAGE: Portuguese; Non-English
COUNTRY OF PUBLICATION: Portugal
ABSTRACT: The increasing use of magnetic resonance imaging (MRI) in fetal evaluation is due to its excellent structural and morphological resolution. We report nine fetal MRI examinations and discuss some of the technical issues related to this technique. METHODS: We report nine fetal MRI done in the MRI Center in Caselas, Portugal, between January 1999 and March 2000. The fetal ages ranged from 24 and 33 weeks of gestation. RESULTS: The MRI diagnoses were: one normal case, two normal variants, two hydrocephalus due to intraventricular hemorrhage, one corpus callosum agenesis, one corpus callosum hypoplasia, one case with white matter encephaloclastic lesions and one case of torcular and superior sagittal sinus dilatation. In one case the MRI confirmed the ultrasonography (US) diagnosis, in two cases the MRI depicted the etiology of the pathologies found with US, in three cases there was a suspicion of pathology with US but the MRI was normal or had normal variants, and in three cases the MRI diagnoses were different from those made by US. CONCLUSIONS: MRI has the highest sensitivity for fetal imaging and should be used if the US is insufficient to establish the diagnosis.
MAJOR MESH DESCRIPTORS: *Fetal-Diseases-pathology; *Magnetic-Resonance-Imaging; *Prenatal-Diagnosis
MINOR MESH DESCRIPTORS: Retrospective-Studies
CHECKTAGS: English-Abstract; Female; Human; Pregnancy
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: pathology
SUBSET: Index-Medicus
UPDATE CODE: 20010712
ACCESSION NUMBER: 21220410
RECORD FEATURES: ABSTRACT (AB)
Record 9 of 12 in MEDLINE(R) on CD 2001
TITLE: Congenital CMV with callosal lipoma and agenesis.
AUTHOR: Mehta,-N-M; Hartnoll,-G
ADDRESS OF AUTHOR: Northwick Park Hospital, London, United Kingdom.
SOURCE: Pediatr-Neurol. 2001 Mar; 24(3): 222-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0887-8994
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: An infant with symptomatic congenital Cytomegalovirus infection is reported. After the detection of abnormalities on cranial ultrasound scanning, magnetic resonance imaging of the brain revealed a complete absence of corpus callosum with a midline anterior tubulonodular lipoma. A proposed causative link between early in utero Cytomegalovirus infection and lipoma with agenesis of corpus callosum is discussed.
MAJOR MESH DESCRIPTORS: *Brain-Neoplasms-pathology; *Corpus-Callosum-abnormalities; *Corpus-Callosum-pathology; *Cytomegalovirus-Infections-congenital; *Lipoma-pathology
MINOR MESH DESCRIPTORS: Brain-Neoplasms-complications; Cytomegalovirus-Infections-complications; Hearing-physiology; Infant,-Newborn; Lipoma-complications; Magnetic-Resonance-Imaging
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: complications; pathology; abnormalities; congenital; physiology
SUBSET: Index-Medicus
UPDATE CODE: 20010823
ACCESSION NUMBER: 21197789
RECORD FEATURES: ABSTRACT (AB)
Record 10 of 12 in MEDLINE(R) on CD 2001
TITLE: Corpus callosum agenesis.
AUTHOR: Chacko,-A; Koul,-R; Sankhla,-D-K
ADDRESS OF AUTHOR: Division of Pediatric Neurology, Deparment of Child Health, Sultan Qaboos University Hospital, PO Box 35, Postal Code 123, Sultanate of Oman.
SOURCE: Saudi-Med-J. 2001 Jan; 22(1): 22-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0379-5284
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: Saudi-Arabia
ABSTRACT: OBJECTIVE: The objectives are to analyse corpus callosum agenesis in children with various neurological problems in a hospital set-up, and to study the neurological and systemic abnormalities associated with this condition. METHODS: The children with various neurological problems who underwent computerized tomography brain from January 1993 to December 1997, and were found to have corpus callosum agenesis, formed the subjects of this study. These children were examined for any syndromic association, congenital infections or metabolic defects. RESULTS: Out of 2164 children who underwent computerized tomography brain, 22 had corpus callosum agenesis (1%). Most cases were not syndromic and 64% were males. Epileptic disorders were noted in about one third of cases. CONCLUSION: Corpus callosum agenesis is an important anomaly in children with neurodevelopment handicaps, usually detected by neuroradiology.
MAJOR MESH DESCRIPTORS: *Corpus-Callosum-abnormalities
MINOR MESH DESCRIPTORS: Child-; Child,-Preschool; Corpus-Callosum-radiography; Infant,-Newborn; Tomography,-X-Ray-Computed
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; radiography
SUBSET: Index-Medicus
UPDATE CODE: 20010607
ACCESSION NUMBER: 21155722
RECORD FEATURES: ABSTRACT (AB)
Record 11 of 12 in MEDLINE(R) on CD 2001
TITLE: [A case of central nervous system anomalies (agenesis of corpus callosum, colpocephaly, hydrocephalus, congenital dermal sinus) associated with congenital heart disease(double-outlet right ventricle, complete endocardial cushion defect, atrial septal defect, pulmonary arterial stenosis, patent ductus arteriosus)]
AUTHOR: Oyama,-H; Numaguchi,-A; Sakurai,-H; Ichihara,-K; Ikeda,-A; Matsushima,-M; Maeda,-M; Inoue,-S; Iizuka,-H; Endoh,-O; Shibuya,-M
ADDRESS OF AUTHOR: Department of Neurosurgery, Chukyo Hospital, 1-1-10 Sanjo, Minami-ku, Nagoya 457-8510, Japan.
SOURCE: No-To-Shinkei. 2001 Feb; 53(2): 179-84
INTERNATIONAL STANDARD SERIAL NUMBER: 0006-8969
PUBLICATION YEAR: 2001
LANGUAGE: Japanese; Non-English
COUNTRY OF PUBLICATION: Japan
ABSTRACT: A case of central nervous system anomalies(agenesis of corpus callosum, colpocephaly, hydrocephalus, congenital dermal sinus) associated with congenital heart disease(double-outlet right ventricle, complete endocardial cushion defect, atrial septal defect, pulmonary arterial stenosis, patent ductus arteriosus) is reported. Female patient had been already diagnosed as hydrocephalus during pregnancy and ventricular drainage was performed soon after the delivery. Prostaglandin E 1 was also applied for heart disease, but saturation of O2 decreased to 80% on arterial blood gas analysis. Blalock-Taussig operation and ligation of ductus arteriosus was done 41 days after the delivery and ventricle-peritoneal shunt was also made for the progressive hydrocephalus on the same day. Chromosome analysis showed no abnormality. The genesis of this complicated brain and heart anomaly is discussed from the viewpoint of neural crest cell abnormality.
MAJOR MESH DESCRIPTORS: *Abnormalities,-Multiple; *Central-Nervous-System-abnormalities; *Heart-Defects,-Congenital-complications
MINOR MESH DESCRIPTORS: Cerebral-Ventricles-abnormalities; Constriction,-Pathologic; Corpus-Callosum-abnormalities; Double-Outlet-Right-Ventricle-complications; Ductus-Arteriosus,-Patent-complications; Endocardial-Cushion-Defects-complications; Heart-Septal-Defects,-Atrial-complications; Hydrocephalus-complications; Infant,-Newborn; Pulmonary-Artery-pathology; Spina-Bifida-Occulta
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: abnormalities; complications; pathology
SUBSET: Index-Medicus
UPDATE CODE: 20010521
ACCESSION NUMBER: 21166642
RECORD FEATURES: ABSTRACT (AB)
Record 12 of 12 in MEDLINE(R) on CD 2001
TITLE: Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.
AUTHOR: Plauchu,-H; Encha-Razavi,-F; Hermier,-M; Attia-Sobol,-J; Vitrey,-D; Verloes,-A
ADDRESS OF AUTHOR: Service de Genetique Clinique des Hospices Civils de Lyon, Hotel-Dieu 69228 Lyon Cedex 02, France. henri.plauchu@chu-lyon.fr
SOURCE: Am-J-Med-Genet. 2001 Feb 15; 99(1): 14-20
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 2001
LANGUAGE: English
COUNTRY OF PUBLICATION: United-States
ABSTRACT: We report on two new cases of syndromic lissencephaly in two consanguineous sibs, with skeletal abnormality, born to young, healthy, second cousin parents with healthy children. In Case 1, fetal ultrasound screening at 32 weeks of gestation showed microcephaly, skin infiltration and equinovarus feet. MRI disclosed cerebral agyria, hypoplastic cerebral mantle and posterior agenesis of the corpus callosum. The propositus, a boy, died soon after birth at term. In Case 2, fetal ultrasound study performed at 16 weeks of gestation disclosed skin infiltration. MRI at 22 weeks of gestation showed microcephaly with agenesis of corpus callosum and cerebellar hypoplasia. Pregnancy was terminated at 22 weeks of gestation. The fetus had normal 46, XY karyotype and similar anomalies found in the index case, with cranio-facial edema and arthrogryposis. X-ray films showed epiphyseal stippling of cervical vertebrae, feet and sacrum. Metacarpal bones were shortened with hypoplastic distal phalanges. Neuropathological findings were concordant with the pattern described in type III lissencephaly: an agyric brain with hypoplastic brain stem and cerebellum, severe neuronal loss of the cortical plate, matrix zone, basal ganglia, brainstem nuclei and spinal cord with axonal swelling and microcalcification. This entity seems to be a new syndromic lissencephaly type III, because of epiphyseal calcifications and metacarpophalangeal bone dysplasia. Copyright Wiley-Liss. Inc.
MAJOR MESH DESCRIPTORS: *Brain-abnormalities; *Epiphyses-pathology; *Skin-pathology
MINOR MESH DESCRIPTORS: Abnormalities,-Multiple-genetics; Abnormalities,-Multiple-pathology; Consanguinity-; Fatal-Outcome; Genes,-Recessive; Infant,-Newborn; Syndrome-
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: Journal-Article
SUBHEADINGS: genetics; pathology; abnormalities
SUBSET: Index-Medicus
UPDATE CODE: 20010531
ACCESSION NUMBER: 21090675
RECORD FEATURES: ABSTRACT (AB)