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Phenotipic identification of neurological malformations: Neuroradiology of Syndromes

Morning Seminars Thursday October 7. Phenotipic identification of neurological malformations: Neuroradiology of Syndromes. F. Triulzi Dept. of Radiology and Neuroradiology Children’s Hospital “V. Buzzi” Milan, Italy. Syndrome (σύνδρομος - "run together”).

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Phenotipic identification of neurological malformations: Neuroradiology of Syndromes

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  1. Morning Seminars Thursday October 7 Phenotipic identification of neurological malformations: Neuroradiology of Syndromes F. Triulzi Dept. of Radiology and Neuroradiology Children’s Hospital “V. Buzzi” Milan, Italy

  2. Syndrome (σύνδρομος - "run together”) “association of several clinically recognizable features, signs, symptoms, phenomena or characteristics that often occur together “

  3. Syndromes Neurological signs & symptoms CNS anomalies NEURORADIOLOGY OF SYNDROMES

  4. Syndromology Dysmorphology David W Smith 1926-1981

  5. Radiology of Syndromes Hooshang Taybi 1919-2006

  6. http://www.ncbi.nlm.nih.gov/omim Initiated in the early 1960s by Dr. Victor A. McKusick as a catalog of mendelian traits and disorders, entitled Mendelian Inheritance in Man (MIM). RUBINSTEIN-TAYBISYNDROME; RSTS MIM ID #180849 Gene map locus: 16p13.3, 22q13 • Clinical Features • Inheritance • Cytogenetics • Diagnosis • Clinical Management • Molecular Genetics • Genotype/Phenotype Correlations • Population Genetics • Nomenclature • Animal Model • History • Clinical Synopsis • References • Contributors • Creation Date • Edit History

  7. NRX role in the diagnostic evaluation of Syndromes with CNS involvement • Highly suggestive • Can be in some rare case pathognomonic B.Suggestive But never pathognomonic C.Doubtful “Minor anomalies” D.Normal NRX studies Rule out something

  8. Highly suggestive A number of definite anomalies that can suggest a syndrome with an high level of confidence

  9. Type A Examples • Aicardi • Delleman • - De Morsier • - Frontonasal dysplasia • - Kallmann • Lhermitte-Duclos (Cowden Sy) • Walker-Warburg • FAKOMATOSIS • - NF 1 • - NF 2 • Tuberous Sclerosis • Sturge Weber • - Encephalocraniocutaneous lipomatosis

  10. AICARDI SYNDROME MIM ID %304050 Gene map locus: Xp22 • callosal agenesis • infantile spasms • chorioretinal lacunae • female

  11. Aicardi Syndrome Corpus callosum agenesis in a female * * • Intracranial cysts • Subependymal heterotopia • Cortical anomalies

  12. Intracranial cysts • Subependymal heterotopia • Cortical anomalies Aicardi Syndrome Corpus callosum agenesis XX

  13. 23 GW female, US: CC agenesis MR: Aicardi Syndrome?

  14. 22.5 GW female, US: CC agenesis MR: Aicardi Syndrome?

  15. SEPTOOPTIC DYSPLASIA DE MORSIER SYNDROME MIM ID #182230 Gene map locus: 3p21.2-p21.1 mutation in the homeobox gene HESX1 (601802). • optic nerve hypoplasia • pituitary gland hypoplasia • septum pellucidum agenesis

  16. De Morsier Syndrome (septo-optic dysplasia) Septum pellucidum agenesis Pituitary hypoplasia Optic nerves hypoplasia Normal chiasm & pituitary

  17. Pituitary dwarfs + DSO

  18. SOD + polymicrogyria P.R.,m. 20m

  19. SOD + polymicrogyria P.R.,m. 20m

  20. SOD + schizencephaly I.R.J.C.,m. 11 a

  21. SOD + schizencephaly I.R.J.C.,m. 11 a

  22. WALKER-WARBURG SYNDROME MIM ID #236670 Gene map locus: 14q24.3, 9q34.1 genes encoding protein O-mannosyltransferase-1 (POMT1; 607423) and -2 (POMT2; 607439). • hydrocephalus (H) • agyria (A), • retinal dysplasia (RD) • with or without encephalocele (+/-E).

  23. Walker-Warburg

  24. Walker-Warburg Fetal MR

  25. ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS MIM ID %613001 • profound mental retardation • early onset of seizures • unilateral temporofrontal lipomatosis • ipsilateral cerebral and leptomeningeal lipomatosis • cerebral malformation and calcification • lipomas of the skull, eye, and heart

  26. Encephalocraniocutaneous Lipomatosis Affected side Arachnoid cyst Lipoma Meningeal calcifications Ventricular dilatation Cortical malformation

  27. B.Suggestive Evidence of one or more anomalies that are mandatory to define a syndrome, but remain non specific

  28. Type B Generic Anomalies • Corpus callosum agenesis • Cerebellar hypoplasia • Malformations of cortical develpment • White matter hypoplasia • Microcephaly

  29. Type B Examples - Andermann - Atassia-teleangectasia - CHARGE - Cockayne - Ehlers-Danlos - Nevo epidermico - Fragile X - Hypomelanosis of Ito - Incontinentia pigmenti - Klippel-Trenaunay - Marinesco-Sjogren - Miller-Dieker • - Moebius • - Goldenhar • - Pallister-Hall • - PEHO • - Rendu-Osler • - Rubistein-Taybi • - Stoll-Charrow-Poznanski • Toriello-Carey • Trichothiodystrophy • - Von Hippel-Lindau • Wolfram • Wolf-Hirschorn

  30. MILLER-DIEKER LISSENCEPHALY SYNDROME MIM ID #247200 Gene map locus: 17p13.3 • lissencephaly • microcephaly • wrinkled skin over the glabella and frontal suture • prominent occiput • narrow forehead • downward slanting palpebral fissures • small nose and chin, cardiac malformations • hypoplastic male extrenal genitalia • growth retardation

  31. Miller Dieker lissencephaly

  32. TRICHOTHIODYSTROPHY MIM ID #601675 Gene map locus: 6q25.3, 2q21, • brittle hair and nails • ichthyotic skin • physical and mental retardation • hypomyelination

  33. Trichothiodystrophy Hypomyelination

  34. Cerebellar atrophy Hypomyelination

  35. Hypodontia

  36. Corpus callosum agenesis

  37. C.Doubtful Minor subtle anomalies, that can however suggest a syndrome in case of a positive clinical hystory

  38. Type C Minor dysmorphic features of: • Corpus callosum • Cerebellum-brainstem • Cortical gyri

  39. …But DYSMORPHIC Corpus callosum is not partly or totally absent…

  40. Borjeson Forssman Lehmann • severe mental defect • epilepsy • hypogonadism • hypometabolism • marked obesity • swelling of subcutaneous tissue of face • narrow palpebral fissure • large but not deformed ears MIM ID #301900 Gene map locus: Xq26.3

  41. Kabuki make-up syndrome • mental retardation • postnatal dwarfism • long palpebral fissures • broad and depressed nasal tip • large prominent earlobes • high-arched palate • scoliosis • short fifth finger • persistence of fingerpads • radiographic abnormalities of the vertebrae • recurrent otitis media in infancy MIM ID #147920 mutation in the MLL2 gene on chromosome 12q12-q14.

  42. Pallister-Killian MIM ID #601803 mosaicism for tetrasomy of chromosome 12p. • profound mental retardation • seizures • streaks of hypo- or hyper-pigmentation • prominent forehead • sparse anterior scalp hair • flat occiput, hypertelorism • short nose with anteverted nostrils • flat nasal bridge • short neck..

  43. Pallister-Killian

  44. Costello MIM ID #218040 mutations in the HRAS gene (190020) • characteristic coarse facies • short stature • distinctive hand posture and appearance • severe feeding difficulty • failure to thrive • cardiac anomalies • developmental disability.

  45. Costello

  46. Chromosomopathies Translocation 3y Del 1 q

  47. Del 1 q Translocation 3y

  48. Normal corpus callosum development 2 months 3 5 4 6 6,5 8 8,5 9,5 11 12,5 15

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