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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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slide1
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

slide2
Syndrome (σύνδρομος - "run together”)

“association of several clinically recognizable features, signs, symptoms, phenomena or characteristics that often occur together “

slide3
Syndromes

Neurological

signs & symptoms

CNS

anomalies

NEURORADIOLOGY OF SYNDROMES

slide4
Syndromology Dysmorphology

David W Smith 1926-1981

slide5
Radiology of Syndromes

Hooshang Taybi 1919-2006

slide6
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
slide7
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

slide8
Highly suggestive

A number of definite anomalies that can suggest a syndrome with an high level of confidence

slide9
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
slide10
AICARDI SYNDROME

MIM ID %304050

Gene map locus: Xp22

  • callosal agenesis
  • infantile spasms
  • chorioretinal lacunae
  • female
slide11
Aicardi Syndrome

Corpus callosum agenesis

in a female

*

*

  • Intracranial cysts
  • Subependymal heterotopia
  • Cortical anomalies
slide12
Intracranial cysts
  • Subependymal heterotopia
  • Cortical anomalies

Aicardi Syndrome

Corpus callosum agenesis XX

slide13
23 GW female, US: CC agenesis

MR: Aicardi Syndrome?

slide14
22.5 GW female, US: CC agenesis

MR: Aicardi Syndrome?

slide15
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
slide16
De Morsier Syndrome

(septo-optic dysplasia)

Septum pellucidum agenesis

Pituitary hypoplasia

Optic nerves hypoplasia

Normal chiasm & pituitary

slide20
SOD + schizencephaly

I.R.J.C.,m. 11 a

slide21
SOD + schizencephaly

I.R.J.C.,m. 11 a

slide22
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).
slide25
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
slide26
Encephalocraniocutaneous Lipomatosis

Affected side

Arachnoid cyst

Lipoma

Meningeal calcifications

Ventricular dilatation

Cortical malformation

slide27
B.Suggestive

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

slide28
Type B

Generic Anomalies

  • Corpus callosum agenesis
  • Cerebellar hypoplasia
  • Malformations of cortical develpment
  • White matter hypoplasia
  • Microcephaly
slide29
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
slide30
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
slide31
Miller Dieker

lissencephaly

slide32
TRICHOTHIODYSTROPHY

MIM ID #601675

Gene map locus: 6q25.3, 2q21,

  • brittle hair and nails
  • ichthyotic skin
  • physical and mental retardation
  • hypomyelination
slide33
Trichothiodystrophy

Hypomyelination

slide34
Cerebellar atrophy

Hypomyelination

slide38
C.Doubtful

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

slide39
Type C

Minor dysmorphic features of:

  • Corpus callosum
  • Cerebellum-brainstem
  • Cortical gyri
slide40
…But DYSMORPHIC

Corpus callosum is not partly or totally absent…

slide41
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

slide42
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.

slide43
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..
slide45
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.
slide47
Chromosomopathies

Translocation 3y

Del 1 q

slide48
Del 1 q

Translocation 3y

slide50
Normal corpus callosum development

2 months

3

5

4

6

6,5

8

8,5

9,5

11

12,5

15

slide51
2

3

4

5

8

6,5

8,5

6

9,5

11

12,5

15

slide52
Genu

Body

Splenium

Hystmus

slide55
Band

thick to thin

slide56
short and thick

humpty dumpty

slide58
Very frequent

Minor dysmorphisms

in Syndromes

slide59
Very low specificity

Different Syndromes – Same anomalies

Minor dysmorphisms

in Syndromes

slide60
Voxel based morphometry??

DTI??

Needs quantitation

“Cerebral phenotype”

slide61
Williams syndromes

Marenco et al PNAS 2007;104:15117-22

slide63
Morning Seminars

Thursday October 7

Thank you for your attention

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