12 - Special Motility Disorders Flashcards

1
Q

(Congenital Cranial Dysinnervation Disorders)

Exemples de Congenital Cranial Dysinnervation Disorders

A

Included in this group are Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, and some cases of congenital fourth nerve palsy.
In recent work, congenital Brown syndrome has been postulated to be a form of CCDD.

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2
Q

(Duane Retraction Syndrome)

V ou F : Duane retraction syndrome is a spectrum of ocular motility disorders

A

Vrai. Duane retraction syndrome is a spectrum of ocular motility disorders.

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3
Q

(Duane Retraction Syndrome)

Définir le Duane retraction syndrome?

A

Duane retraction syndrome is a spectrum of ocular motility disorders characterized by anomalous co- contraction of the medial and lateral rectus muscles on actual or attempted adduction of the involved eye or eyes; this co- contraction causes the globe to retract.

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4
Q

(Duane Retraction Syndrome)

V ou F : Horizontal eye movement are not limited in both abduction and adduction.

A

Faux. Horizontal eye movement can be limited to various degrees in both abduction and adduction.

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5
Q

(Duane Retraction Syndrome)

Causes expliquant un upshoot ou un downshoot lorsque l’oeil ADD?

A
  • An upshoot or downshoot often occurs when the affected eye is innervated to adduct; vertical slippage of a tight lateral rectus muscle by 1–2 mm, which has been demonstrated by magnetic resonance imaging (MRI) studies, is the typical cause.
  • Less commonly, anomalous vertical rectus muscle activity is responsible for upshoots and downshoots.
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6
Q

(Duane Retraction Syndrome)

2 syndromes avec atteintes systémiques associés au Duane retraction syndrome?

A

Although most affected patients have Duane retraction syndrome alone, many associated systemic defects have been noted, such as Goldenhar syndrome (hemifacial microsomia, ocular dermoids, ear anomalies, preauricular skin tags, and eyelid colobomas) and Wildervanck syndrome (sensorineural hearing loss and Klippel- Feil anomaly with fused cervical vertebrae).

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7
Q

(Duane Retraction Syndrome)

Qu’est-ce que le syndrome Goldenhar?

A

Goldenhar syndrome
* hemifacial microsomia
* ocular dermoids
* ear anomalies
* preauricular skin tags
* eyelid colobomas

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8
Q

(Duane Retraction Syndrome)

Qu’est-ce que le syndrome Wildervanck?

A

Wildervanck syndrome
* sensorineural hearing loss and Klippel- Feil anomaly with fused cervical vertebrae.

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9
Q

(Duane Retraction Syndrome)

Rx tératogène associé au Duane retraction syndrome?

A

Studies of patients with Duane retraction syndrome related to prenatal thalidomide exposure show that the under lying defect in development occurs between the fourth and sixth weeks of gestation.

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10
Q

(Duane Retraction Syndrome)

Type d’acquisition/transmission?

A

Most cases of Duane retraction syndrome are sporadic, but approximately 5%–10% show autosomal dominant inheritance.

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11
Q

(Duane Retraction Syndrome)

% de patients avec un autosomal dominant inheritance?

A

Most cases of Duane retraction syndrome are sporadic, but approximately 5%–10% show autosomal dominant inheritance.

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12
Q

(Duane Retraction Syndrome)

Prévalence H versus F?

A

A higher prevalence in females is reported in most series, and there is a predilection for the left eye.

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13
Q

(Duane Retraction Syndrome)

Prévalence OD versus OS?

A

A higher prevalence in females is reported in most series, and there is a predilection for the left eye.

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14
Q

(Duane Retraction Syndrome)

Quelles sont les anomalies innervationnelles associées au Duane retraction syndrome?

A
  • In most anatomical and imaging studies, the nucleus of the sixth cranial nerve is absent or hypoplastic and an aberrant branch of the third cranial nerve innervates the lateral rectus muscle.
  • Results of electromyographic studies have been consistent with this finding.
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15
Q

(Duane Retraction Syndrome)

Ductions forcées N ou aN dans le Duane retraction syndrome?

A

Although Duane retraction syndrome is considered an innervational anomaly, tight and broadly inserted medial rectus muscles and fibrotic lateral rectus muscles, with corresponding forced duction abnormalities, are often encountered during surgery.

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16
Q

(Duane Retraction Syndrome)

Classification du Duance retraction syndrome?

A
  • Type 1 refers to poor ABDuction, frequently with esotropia in primary position
  • Type 2 refers to poor ADDuction and exotropia
  • Type 3 refers to poor ABDuction and ADDuction, with esotropia, exotropia, or no primary position deviation

The spectrum of dysinnervation among cases means that classification of patients based on these categories can be arbitrary in some situations, especially in deciding between type 1 and type 3.

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17
Q

(Duane Retraction Syndrome)

% de patients avec une atteinte bilatérale?

A

Approximately 15% of cases are bilateral; the type may differ between the 2 eyes.

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18
Q

(Duane Retraction Syndrome)

V ou F : le type de Duane retraction syndrome peut différer entre les deux yeux.

A

Vrai. Approximately 15% of cases are bilateral; the type may differ between the 2 eyes.

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19
Q

(Duane Retraction Syndrome)

Qu’est-ce que le Synergistic divergence dans le Duane retraction syndrome?

A
  • Synergistic divergence is a rare and bizarre motility disturbance that is often classified as a fourth type of Duane syndrome.
  • There is usually exotropia, and when the affected eye looks in the direction that should result in adduction, it actually abducts even further— a finding colorfully described as “the ocular splits.”
  • Synergistic divergence can be unilateral or bilateral and can be due to biallelic COL25A1 mutations.
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20
Q

(Duane Retraction Syndrome)

Most comme form of Duane retraction syndrome?

A

Type 1 (with esotropia and limited abduction) is the most common form of Duane retraction syndrome, accounting for 50%–80% of cases in several series.

21
Q

(Duane Retraction Syndrome)

Comment différencier un Duane retraction syndrome (type 1) d’un sixth nerve palsy?

A
  • Observation of globe retraction on adduction obviates the need for neurologic investigation for sixth nerve palsy, from which it must be differentiated; however, retraction can be difficult to appreciate in an infant.
  • Another indicator that the condition is not sixth nerve palsy is the relatively small esotropia in primary position (usually <30 prism diopters [Δ]) in the setting of a severe abduction deficit.
  • A further point of differentiation is that even in esotropic Duane retraction syndrome, a small- angle exotropia is sometimes present on gaze to the side opposite that of the affected eye, a finding that does not occur in lateral rectus muscle paralysis.
  • Finally, examination at the slit lamp can help confirm the diagnosis in mild cases: if the vertical slit- lamp beam cast from the cornea onto the lower eyelid is disrupted by globe retraction when the eye adducts, Duane retraction syndrome is present.

DONC :
* Globe retraction on adduction
* Relatively small esotropia in primary position in the setting of a severe abduction deficit
* Small- angle exotropia is sometimes present on gaze to the side opposite that of the affected eye
* Lorsque yeux ADD, amincissement du faisceau luminaire projeté sur la cornée

22
Q

(Duane Retraction Syndrome)

Vision binoculaire chez patients atteints d’un Duane retraction syndrome?

A

In many patients with this syndrome, the eyes are properly aligned in at least 1 position of gaze, allowing the development of binocular vision.

23
Q

(Duane Retraction Syndrome)

V ouF : No surgical approach will normalize rotations.

A

Vrai. No surgical approach will normalize rotations.

24
Q

(Duane Retraction Syndrome)

Indications de chx pour un Duane retraction syndrome?

A

Surgery is reserved for cases with
* A primary position deviation
* A head turn
* A marked globe retraction
* A large upshoots or downshoots

25
Q

(Duane Retraction Syndrome)

Chx la plus fréquente pour un Duane retraction syndrome :
* Type 1?
* Type 2?
* Type 3?

A
  • Unilateral type 1 Duane retraction syndrome : recession of the medial rectus muscle on the involved side
  • Type 2 Duane retraction syndrome : recession of the lateral rectus muscle on the involved side
  • Type 3 Duane retraction syndrome : patients often have straight eyes near the primary position and do not require surgical treatment for their minimal head turn or horizontal strabismus.
26
Q

(Congenital Fibrosis of the Extraocular Muscles)

Définir le CFEOM

A

Congenital fibrosis of the extraocular muscles (CFEOM), or congenital fibrosis syndrome, is a group of rare congenital disorders in which EOM restriction is present and fibrous tissue replaces these muscles.

27
Q

(Congenital Fibrosis of the Extraocular Muscles)

Type de transmission

A

Some forms have been noted to be inherited, usually as an autosomal dominant trait but occasionally in an autosomal recessive fashion.

28
Q

(Congenital Fibrosis of the Extraocular Muscles)

Est-ce qu’il y a une atteinte des noyaux des NC ou des NC eux-mêmes dans le CFEOM?

A

Both
Cases of CFEOM involve developmental defects of cranial nerve nuclei and of the nerves themselves, resulting in dysinnervation and abnormal structure of the EOMs.

29
Q

(Congenital Fibrosis of the Extraocular Muscles)

Présentation clinique

A

Depending upon the type of CFEOM, there may be various combinations of
* esotropia with limited abduction
* exotropia with limited adduction
* limited elevation with chin-up head position
* ptosis

Strabismus fixus involves the horizontal rectus muscles, usually the medial rectus muscles, causing severe esotropia.

Vertical retraction syndrome affects the superior rectus muscle and causes inability to depress the eye.

Diagnosis of CFEOM depends on finding limited voluntary motion with restriction, which is usually severe and can be confirmed with forced duction testing.

30
Q

(Congenital Fibrosis of the Extraocular Muscles)

Management du CFEOM

A
  • Surgery for CFEOM is difficult and requires release of the restricted muscles (weakening procedures).
  • Fibrosis of the adjacent tissues may be present as well.
  • A good surgical result aligns the eyes in primary position, but full ocular rotations cannot be restored and the outcome is unpredictable.
31
Q

(Möbius Syndrome)

Définir le Möbius Syndrome?

A

Möbius syndrome is a rare condition characterized by the association of both sixth and seventh nerve palsies, the latter causing masklike facies.

Patients may also manifest gaze palsies that can be attributed to abnormalities in the paramedian pontine reticular formation or the sixth cranial nerve nucleus.

32
Q

(Möbius Syndrome)

V ou F : les patients avec un Möbius Syndrome peuvent avoir des gaze plasies.

A

Vrai. Patients may also manifest gaze palsies that can be attributed to abnormalities in the paramedian pontine reticular formation or the sixth cranial nerve nucleus.

33
Q

(Möbius Syndrome)

Anomalies de quelles régions anatomiques pouvant expliquer des gaze palsies chez les patients avec Möbius Syndrome?

A

Patients may also manifest gaze palsies that can be attributed to abnormalities in the paramedian pontine reticular formation or the sixth cranial nerve nucleus.

34
Q

(Möbius Syndrome)

Manifestations extra-oculaires associées au Möbius Syndrome?

A
  • Many patients also have limb, chest, and tongue defects.
  • Some geneticists believe that Möbius syndrome is one of a family of syndromes in which hypoplastic limb anomalies may be associated with orofacial and cranial nerve defects.
  • Poland syndrome (absent pectoralis muscle) is another variant.
35
Q

(Möbius Syndrome)

Qu’est-ce que le Poland Syndrome?

A
  • Many patients also have limb, chest, and tongue defects.
  • Some geneticists believe that Möbius syndrome is one of a family of syndromes in which hypoplastic limb anomalies may be associated with orofacial and cranial nerve defects.
  • Poland syndrome (absent pectoralis muscle) is another variant.
36
Q

(Möbius Syndrome)

Patterns of ocular motility involvement associés au Möbius Syndrome? Décrire l’atteinte palpébrale parfois associée?

A

Patients with Möbius syndrome exhibit 1 of 3 patterns of ocular motility involvement, which are likely related to the severity and timing of the in utero insult:
* Orthotropia in primary position with marked deficits in abduction and adduction (40% of cases)
* Esotropia with cross- fixation and sparing of convergence (50% of cases)
* Large exotropia with absence of convergence (10% of cases)

Some patients appear to have palpebral fissure changes on adduction or vertical EOM involvement.

37
Q

(Möbius Syndrome)

Tx chirurgical?

A
  • Medial rectus muscle recession has been advocated for patients with large- angle esotropia, but caution should be exercised in the presence of a significant limitation of adduction.
  • Some surgeons have endeavored to improve abduction by performing vertical rectus muscle transposition procedures after medial rectus muscle restriction has been relieved.
38
Q

(Brown Syndrome)

Principale caractéristique clinique du Brown Syndrome?

A

Restriction of elevation in adduction

39
Q

(Brown Syndrome)

Cause/Physiopathologie du Brown Syndrome?

A

Various abnormalities of the tendon– trochlea complex

40
Q

(Brown Syndrome)

V ou F : La majorité des cas sont acquis.

A

Faux. Most cases are congenital.

41
Q

(Brown Syndrome)

Causes d’un Brown Syndrome acquis?

A

Prominent causes of the acquired form include
* Trauma in the region of the trochlea
* Iatrogenic causes such as scleral buckles and tube shunts
* Orbital tumors
* Systemic inflammatory conditions such as rheumatoid arthritis (often results in intermittent Brown syndrome, which may resolve spontaneously)

Sinusitis can also lead to Brown syndrome; thus, patients with acute- onset presentation of Brown syndrome of undetermined cause should undergo imaging of the orbits and paranasal sinuses to investigate this possibility.

42
Q

(Brown Syndrome)

% des patients avec condition bilatérale?

A

The condition is bilateral in approximately 10% of cases.

43
Q

(Brown Syndrome)

Résolution spontanée du Brown Syndrome?

A

Resolution of congenital Brown syndrome has been thought to be unusual, but a report by Dawson and colleagues describes spontaneous improvement in 75% of cases, often after many years.

44
Q

(Brown Syndrome)

Caractéristiques cliniques

A
  • Deficient elevation in adduction that improves in abduction but often not completely.
  • Positive forced duction test : restricted passive elevation in adduction (essential for the diagnosis)
  • Attempts at elevation straight upward usually cause divergence (V pattern)
  • Palpebral fissure widens and overdepression in adduction can be observed in severe cases of Brown syndrome
  • In mild Brown syndrome, no hypotropia is present in primary position.
  • Severe cases of Brown syndrome with a primary position hypotropia are often accompanied by a chin-up head position or a head turn away from the side of the affected eye
45
Q

(Brown Syndrome)

Tx pour les mild congenital Brown syndrome?

A

Observation alone is appropriate for mild congenital Brown syndrome.

46
Q

(Brown Syndrome)

Évolution/Px du Brown Syndrome lorsqu’associé à arthrite rhumatoïde ou autres mx inflammatoires systémiques?

A

When Brown syndrome is secondary to rheumatoid arthritis or other systemic inflammatory diseases, resolution may occur as systemic treatment brings the under lying disease into remission or when corticosteroids are injected near the trochlea.

47
Q

(Brown Syndrome)

Indication de chx? Types de chx?

A
  • Surgery is indicated for more severe congenital cases.
  • Superior oblique tenotomy nasal to the superior rectus muscle is definitive treatment (ES possible : iatrogenic superior oblique muscle paresis)
  • To reduce the consequences of superior oblique muscle palsy after tenotomy, some surgeons perform simultaneous ipsilateral inferior oblique muscle weakening.
  • Other current options include insertion of an inert spacer or suture between the cut ends of the superior oblique tendon, and split- tendon lengthening of the tendon.
48
Q
A