Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome

European Journal of Paediatric Neurology

Volumn 20, Issue 4, 2016, Pages 604-610

  Tonduti, Davide ^a,b   Orcesi, Simona ^c   Jenkinson, Emma M ^d   Dorboz, Imen ^e   Renaldo, Florence ^f,g,h   Panteghini, Celeste ^a   Rice, Gillian I ^d   Henneke, Marco ⁱ   Livingston, John H ^j   Elmaleh, Monique ^f   Burglen, Lydie ^g   Willemsen, Michèl A A P ^k   Chiapparini, Luisa ^a   Garavaglia, Barbara ^a   Rodriguez, Diana ^e,g,h   Boespflug Tanguy, Odile ^e,f   Moroni, Isabella ^a   Crow, Yanick J ^d,l,m  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h SORBONNE UNIVERSITÉ   (France)

ⁱ UNIVERSITY OF GÖTTINGEN   (Germany)

^j LEEDS GENERAL INFIRMARY   (United Kingdom)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l INSERM   (France)

^m University Sorbonne Paris Cite   (France)

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Author keywords

Aicardi Gouti res syndrome; Calcification; Interferonopathy; Leukodystrophy; RNASET2

Indexed keywords

ANTINUCLEAR ANTIBODY; THYROGLOBULIN ANTIBODY; THYROID HORMONE; THYROID PEROXIDASE ANTIBODY; THYROTROPIN; THYROXINE; RIBONUCLEASE; RNASET2 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADULT; AICARDI GOUTIERES SYNDROME; ALEXANDER DISEASE; ANEMIA; ANTICONVULSANT THERAPY; ARTICLE; BASAL GANGLION; BODY WEIGHT; BRAIN ATROPHY; CEREBELLUM ATROPHY; CEREBROSPINAL FLUID EXAMINATION; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY; FEMALE; FEVER; FOLLOW UP; FRONTAL LOBE; GENE IDENTIFICATION; GENE MUTATION; HEAD CIRCUMFERENCE; HUMAN; HYPERTRANSAMINASEMIA; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; IRRITABILITY; LEUKOENCEPHALOPATHY; MALE; MICROCEPHALY; MOTOR PERFORMANCE; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OPTIC NERVE ATROPHY; PERSONAL EXPERIENCE; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; QUADRIPLEGIA; SCHOOL CHILD; SEIZURE; SOCIAL BEHAVIOR; SOCIAL INTERACTION; SPASTIC GAIT; SPASTIC PARAPLEGIA; SPASTICITY; THYROID HORMONE BLOOD LEVEL; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL; WHITE MATTER; WORKING MEMORY; YOUNG ADULT; ADOLESCENT; BRAIN; CALCINOSIS; CASE REPORT; CYST; CYTOMEGALOVIRUS INFECTIONS; DIAGNOSTIC IMAGING; DIFFERENTIAL DIAGNOSIS; GENETICS; INFANT; MUTATION; NERVOUS SYSTEM MALFORMATION; NEUROLOGIC DISEASE; PATHOPHYSIOLOGY; PHENOTYPE; X-RAY COMPUTED TOMOGRAPHY;

ADOLESCENT; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BRAIN; CALCINOSIS; CHILD; CHILD, PRESCHOOL; CYSTS; CYTOMEGALOVIRUS INFECTIONS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE; RIBONUCLEASES; TOMOGRAPHY, X-RAY COMPUTED; TUMOR SUPPRESSOR PROTEINS; YOUNG ADULT;

EID: 84963648036     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2016.03.009     Document Type: Article

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