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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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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”)

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


Syndromes

Neurological

signs & symptoms

CNS

anomalies

NEURORADIOLOGY OF SYNDROMES


Syndromology Dysmorphology

David W Smith 1926-1981


Radiology of Syndromes

Hooshang Taybi 1919-2006


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


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


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


Type A involvement

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


AICARDI SYNDROME involvement

MIM ID %304050

Gene map locus: Xp22

  • callosal agenesis

  • infantile spasms

  • chorioretinal lacunae

  • female


Aicardi Syndrome involvement

Corpus callosum agenesis

in a female

*

*

  • Intracranial cysts

  • Subependymal heterotopia

  • Cortical anomalies


  • Subependymal heterotopia

  • Cortical anomalies

Aicardi Syndrome

Corpus callosum agenesis XX


23 GW female, US: CC agenesis involvement

MR: Aicardi Syndrome?


22.5 GW female, US: CC agenesis involvement

MR: Aicardi Syndrome?


SEPTOOPTIC DYSPLASIA involvement

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


De Morsier Syndrome involvement

(septo-optic dysplasia)

Septum pellucidum agenesis

Pituitary hypoplasia

Optic nerves hypoplasia

Normal chiasm & pituitary



SOD + polymicrogyria involvement

P.R.,m. 20m


SOD + polymicrogyria involvement

P.R.,m. 20m


SOD + schizencephaly involvement

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


SOD + schizencephaly involvement

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


WALKER-WARBURG SYNDROME involvement

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).


Walker-Warburg involvement


Walker-Warburg involvement

Fetal MR


ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS involvement

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


Encephalocraniocutaneous Lipomatosis involvement

Affected side

Arachnoid cyst

Lipoma

Meningeal calcifications

Ventricular dilatation

Cortical malformation


B.Suggestive involvement

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


Type B involvement

Generic Anomalies

  • Corpus callosum agenesis

  • Cerebellar hypoplasia

  • Malformations of cortical develpment

  • White matter hypoplasia

  • Microcephaly


Type B involvement

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


MILLER-DIEKER LISSENCEPHALY SYNDROME involvement

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


Miller Dieker involvement

lissencephaly


TRICHOTHIODYSTROPHY involvement

MIM ID #601675

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

  • brittle hair and nails

  • ichthyotic skin

  • physical and mental retardation

  • hypomyelination


Trichothiodystrophy involvement

Hypomyelination


Cerebellar atrophy involvement

Hypomyelination


Hypodontia involvement



C.Doubtful involvement

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


Type C involvement

Minor dysmorphic features of:

  • Corpus callosum

  • Cerebellum-brainstem

  • Cortical gyri


…But DYSMORPHIC involvement

Corpus callosum is not partly or totally absent…


Borjeson involvement

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


Kabuki make-up involvement

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.


Pallister-Killian involvement

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..


Pallister-Killian involvement


Costello involvement

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.


Costello involvement


Chromosomopathies involvement

Translocation 3y

Del 1 q


Del 1 q involvement

Translocation 3y


Normal corpus callosum development involvement

2 months

3

5

4

6

6,5

8

8,5

9,5

11

12,5

15


2 involvement

3

4

5

8

6,5

8,5

6

9,5

11

12,5

15


Genu involvement

Body

Splenium

Hystmus


Normal corpus callosum development… involvement

4 years

5

6

8

10

12

14

18


…and Syndromes involvement


Band involvement

thick to thin


short and thick involvement

humpty dumpty


Short and irregular involvement


Very frequent involvement

Minor dysmorphisms

in Syndromes


Very low specificity involvement

Different Syndromes – Same anomalies

Minor dysmorphisms

in Syndromes


Voxel based morphometry?? involvement

DTI??

Needs quantitation

“Cerebral phenotype”


Williams syndromes involvement

Marenco et al PNAS 2007;104:15117-22


Connectivity in involvement Syndromes


Morning Seminars involvement

Thursday October 7

Thank you for your attention


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