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pediatrics > Cranial Syndromes and anomalies > Flashcards

Cranial Syndromes and anomalies Flashcards

1
Q

What is Apert syndrome?

A

AKA type 1 acrocephalosyndactyly.

  • Brachycephaly
  • Syndactyly
  • Maxillary hypoplasia

Predominantly skull and limb malformations. Congenital cardiac anomalies 10%. Congenital genourinary anomalies. Symphalangism.

1/800000 pregnancies. Older paternal age.

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2
Q

What malformation show *enlarged posterior fossa, *hypoplasia or agenesis of vermis and *cystic dilatation of the fourth ventricle. The fourth ventricle is also distorted and enchased by NEUROGLIAL VASCULAR membrane?

A

Dandy Walker malformation

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3
Q

Cardinal symptoms in Syringomyelia?

A
  • Bilateral UE impaired ability for pain sensation.
  • Bilateral UE impaired temperature sensation
  • Spastic paraparesis.
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4
Q

Where are arachnoidal cyst most commonly found?

A
  1. middle fossa
  2. CPA
  3. Suprasellar region
  4. posterior fossa
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5
Q

Recommendation for incidental findings of arachnoidal cysts?

A

Follow up after 6-8mo. then only if symtomatic

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6
Q

When does the few arachnoidal cysts that become symtomatic usually become symtomatic?

A

In early childhood.

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7
Q

When a suture ossifies, normal growth changes. How?

A

The growth 90 degrees to the suture terminates and instead it proceeds parallel to the suture. ( så om coronarsuturen sluter blir huvudet långsmalt )

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8
Q

What sydrome is associated to higher PATERNAL age?

A

Apert syndrome.

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9
Q

Dandy Walker malformation is often associated to something else. WHat?

A

Hcph.

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10
Q

Name 5 differential diagnostics to Dandy Walker malformation

A
  • Dandy Walker variant
  • Persistent Blakes pouch cyst
  • Retrocerebellar arachnoid cyst
    *Joubert syndrome
  • Enlarged cisterna magna
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11
Q

What is Joubert syndrome?

A

Abscence or underdevelopment of cerebellar vermis

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12
Q

What is amblyopia?

A

Poor vision in only one eye caused by abnormal visual development. The “lazy” eye often wander inwards.

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13
Q

Which tyoe of craniosynostosis might cause Amblyopia?

A

coronal

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14
Q

Name two syndromes/malformations in which vermis is underdeveloped/hypoplastic or agenesis of vermis is shown?

A
  • Joubert syndrome - unerdeveloped
  • Dandy Walker - hypoplastic or agenesis
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15
Q

Another name for enlarged cisterna magna?

A

Mega cisterna magna.

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16
Q

How does the posterior fossa look in “Mega cisterna magna”?

A

The whole posterior fossa is enlarged due to the enlarged cistern. Normal vermis, normal 4th v, no mass effect.

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17
Q

What can happen with retrocerebellar arachnoid cyst that does not occur in cisterna magna?

A

The arachnoid cyst may anteriorly displace the 4th ventricle and cerebellum, causing a significant mass effect. Vermis is intact in both situations.

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18
Q

What is a Dandy walker variant?

A

When not all of the (3) Dandy Walker criteria are fullfilled;
* Vermian hypoplasia/agenesis
* Enlarged 4th ventricle
* Enlarged posterior fossa.

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19
Q

What more is seen in Crouzons syndrome?

A

hypoplasia of the midface.

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20
Q

What more is seen in Apert syndrome?

A

Syndactyly

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21
Q

What deformity is seen by unilateral coronal craiosynostosis?

A

Anterior PLAGIOcephaly

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22
Q

What is plagiosephaly?

A

Flattened or concave forehead on the affected side and compensatory prominence of the contralateral forehead.
TYPISK TENTAFRÅGA

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23
Q

Bilateral coronal craniosynostosis is seen in Aperts syndrome. What is it called and how does it look?

A

ACROcephaly.
Broad flattened forehead.

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24
Q

How many craniophasial dysmorphic syndromes hae been described?

A

Over 50.

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25
Q

What is the most common differential diagnostic?

A

Flattened head by positioning.

26
Q

What is Apert syndrome?

A

AKA type 1 acrocephalosyndactyly.

  • Brachycephaly
  • Syndactyly
  • Maxillary hypoplasia

Predominantly skull and limb malformations. Congenital cardiac anomalies 10%. Congenital genourinary anomalies. Symphalangism.

1/800000 pregnancies. Older paternal age.

27
Q

What may be the diagnosis if you see a tetraventricular hcph and a communicating 4th ventricle and posterior fossa cyst? Vermis and medial parts of cerebellum hemispheres might also look hypoplastic.

A

That is probably a persistent Blakes pouch cyst.

28
Q

What is the treatment of a Blakes cyst (persistent)?

A

Shunting. Shunting might also change the appearance as the vermis and cerebellum hemispheres expand (if not atrophy)

29
Q

What are the two most difficult differential diagnostics regarding cysts in the 4th ventricle?

A

To differentiate between Dandy Walker, a Dandy walker variant and a persistent Blakes pouch cyst. The difference should be a tetraventricular hcph in Blakes pouch. Hcph is common in Dandy Walker too, but then there is an enlarged posterior fossa present.

30
Q

It is possible to look for positioning of the choroid plexus of the fourth ventricle when differentiating between arachnoidal cyst, Blakes pouch and Dandy walker/dandy walker variant.
What differs in the Choroid plexus?

A
  • Choroid plexus of the fourth ventricle does not exist in Dandy Walker malformations.
  • The position of the Choroid plexus is normal in case of an arachnoidal cysts.
  • The Choroid plexus is DISPLACED in a Blakes pouch cyst.
31
Q

Where is the fourth ventricle choroid plexus situated in a Dandy Walker malformation?

A

It does not exist.

32
Q

Does a mega cisterna magna communicate with the ventricles?

A

Yes, and if needed that can be shown with a iodine instillation via an EVD. NB obs some arachnoidal cysts do also communicate w the ventricles.

33
Q

How common is hcph in Dandy walker malformation?

A

70-90%

34
Q

Where is the choroid plexus of the 4th ventricle normally situated?

A
35
Q

What other CNS abnormalities are associated to Dandy Walker malformation?

A
  • CC agenesis 17%
  • hcph 70-90%
  • Occipital enphalocele 7%

+ Most have enlarged posterior fossa with elevation of torcular herophilli.
OTHERS: heterotopias, spina bifida, syringomyelia, microcephaly, dermoid cysts, porencephaly, Klippel-Feil deformity.

36
Q

What is PHASES syndrome?

A
37
Q

What important non- neuro deformities might be associated to Dandy Walker deformities and important to remember in case of surgery?

A
  • Facial abnormalities (many kinds eg cleft palpate)
  • Ocular deformities
    CARDIOVASCULAR deformities*
38
Q

What is Klippel-Feil deformity?

A
39
Q

How common is corpus callosum agenesis on radiological examinations?

A

1:2000-3000

40
Q

From what structure does Corpus Callosum form?

A

From the genu of splenium.

41
Q

What is the normal part missing in agenesis of CC?

A

A posterior segment of CC missing.

42
Q

What does abscence of anterior CC with precence of some posterior CCindicate?

A

Some form of holoproencephaly.

43
Q

Agenesis of CC is associated to A NUMBER of neuropathologic findings. Name a few.

A
  • Porencephaly
  • Microgyria
  • Lipomas (interhemispheric or CC)
  • Arhinencephaly
  • optic atrophy
  • Colobomas
  • Hypoplasia of the limbic system
  • Bundles of Probst
  • Loss of horizontal orientation of cingulate gyrus
  • Schizencephaly
  • Total or partial absence of anterior and hippocampal comissures
  • Hcph
  • Cyst in CC region
  • Spina Bifida w/W/O myelomeningocele
  • Abscence of septum pellucidum
44
Q

What is Aicardi syndrome?

A
  • Agenesis of CC
  • Seizures
  • Retardation
  • Patches of retinal pigmentation
45
Q

Is disconnection syndrome common in congenital CC defects?

A

NO, that is usually from aquired CC defects.

46
Q

Name the three most common presentations where CC is found with clinical significance - usually its only incidental.

A
  • Hcph
  • Microcephaly
  • Precocious puberty

(Seizures are rare and dissconnection syndorme usually associated to aquired)

47
Q

Etiologies in abscence of septum pellucidum

A
  • Holoproencephaly
  • Schizencephaly
  • Agenesis of CC
  • Chiari type 2
  • Basal encephalocele
  • Porencephaly/hydranencephaly
  • Due to necrosis from severe hcph
  • Septo-optic dysplasia
48
Q

Why are intracranial lipomas brought up in the “anomalies” chapter of greenberg?

A

They are “FELT to be” of maldevelopmental origin.

49
Q

Incidence of lipomas in autopsies?

A

8:10.000

50
Q

Where are lipomas usually found intracranially?

A

Near the midsagittal plane.
Particularly over CC and often associated to agenesis of CC.

51
Q

Other locations where IC lipomas may be found than CC?

A
  • CP angle
  • cerebellar vermis
  • tuber cinerum
  • quadrigeminal plate
52
Q

What is a hypothalamic hamartoma?

A

A non-neoplastic congenital malformation.

53
Q

Where are hypothalamic hamartomas usually situated?

A

At tuber cinerum

54
Q

How does hypothalamic hamartomas usually present?

A
  • Precocious puberty
  • Seizures
  • Developmental delay
  • Aggressive behavoiur/rage attacks.
55
Q

Hypothalamic hamartomas are associated with a very special form of seizures. What is it called?

A

Gelastic seizures.

56
Q

How are gelastic seizures usually presenting?

A

Brief unprovoked laughter.

57
Q

Why does hypothalamic hamartoma patients get precocious puberty?

A

Due to GnRH release from hamartoma cells.
This is the most common tumouros change to cause precocious puberty.

58
Q

Where is tuber cinerum situated?

A

In the floor of the third ventricle, between the infundibular stak and the mammillary bodies.

59
Q

Apert syndrome and Crouzon syndrome are similar. WHat differs?

A

In apert syndrome, cleft palpate, complex syndactyli and mental retardation is seen, whereas all this is normal in Crouzon.

60
Q
A

pediatrics (9 decks)

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