Table (E)T-1. Neuropathological findings of cranial nerve nuclei, according to the classification of Towfighi1, in cases of cranial nerve palsies in which congenital facial weakness is the prime feature and are classified as having Möbius syndrome.

/ Author / Affected cranial nerve nuclei / Other malformations

I: Hypoplasia of cranial nerve nuclei

/ Heubner2
Spatz and Ullrich3
Phillips et al.4
Richter5
Nardelli et al.6
Sudarshan and Goldie7
Harding and Copp8
Tran et al.9
Lengyel et al.10 / 6,7,12
3,4,6,7
6
7
All*
All*
7,12
3,7,10,12
3,5,6,7,12 / Asymmetric hypoplastic brainstem, dysplastic inferior olivary nucleus and pyramid

Hypoplastic brainstem

-
-
Hypoplastic brainstem, absent olfactory bulbs, hippocampal abnormalities, hypoplastic corpus callosum, cerebellum, absent pyramids
Unremarkable gross brain examination
Hypoplastic inferior olivary nucleus
-
Hypoplastic brainstem

II: Atrophy and active neuronal degeneration of cranial nerve nuclei

/

Marfan11

Rainy and Fowlers12
Saito et al.13 / 7
7
Not examined, (6,7)x / Malformed temporal bone, facial muscles not examined
Degeneration of facial nerve, normal facial muscles
Disappearance of facial nerve in fallopian canal, facial muscles not examined

III: Atrophy and active neuronal degeneration in the tegmentum of pons en medulla in the region of cranial nerve nuclei with focal necrosis

/

Balint14

Fényes15
Riggs16
Riggs17
Riggs17
Thakkar et al.18
Thakkar et al.18
Towfighi et al.1

Lipson et al.19

Lipson et al.19
Wilson et al.20
Wilson et al.20
Sudarshan and Goldie7
Kuhn et al.21
St.Charles et al.22
D’Cruz et al.23
(Jaradeh et al.24)
D’Cruz et al.23
D’Cruz et al.23
D’Cruz et al.23
Cortez and Kinney25
Cortez and Kinney25
Yoon et al.26
Lammens et al.27
Lammens et al.27
Tran et al.9

Peleg et al.28

Present case

/ 6,7
6,7,9,10,12
6,7,12
6,7
6,7
5,6,7,8,10,12
6,7
6,7,12
6,7,9,12
3,6,7,9,12
3,5,8 (6,7,9)x
5 (7-12)x
-,(7)x
3,4,6,7,9,12
3,4,6,7,10,12
4,5,6,7,10
6,7,10
6,(7)x,9,10,11,12
6,(7)x,9,12
6,7,12
6,7,9,10,11,12
6,7,10,12
6,7,9,10,12
6,(7)x,10,12
3,7,10,12
3-12
6,7,12 / -
-
-
-
Abnormal vascular pattern in the midline of the pontine tegmentum
Ventricular dilatation
-
Not mentioned
Not mentioned

Not mentioned

-
-
Hypoplastic brainstem, genu facial nerve involved in tegmental necrosis, ventricular dilatation
Hypoplastic brainstem and cerebellum
Hypoplastic brainstem
Hypoplastic brainstem, ventricular dilatation, capillary telangiectasia, reduced number of anterior horn cells
Hypoplastic brainstem
Dysgenesis of brainstem architecture, caudal displacement of colliculus inferior and olive inferior
-
Hypoplastic inferior olivary nucleus, tegmental necrosis

Hypoplastic brainstem and inferior olivary nucleus, tegmental necrosis

Hypoplastic brainstem and inferior olivary nucleus, capillary telangiectasia
Hypoplastic brainstem and cerebellar hemisphere, atrophic tegmentum, dysplastic inferior olivary nucleus and dentate nucleus
-
-
Gliosis and calcifications in medial inferior olive and dentate nucleus, thalamic nuclei, basal ganglia, anterior horns and lateral columns
Aberrant, thick cochlear nerve, absent abducens nerves. Intramedullary, some facial fibers joining the cochlear nerves, normal 3rd and 5th cranial nerve roots. Small abducens nuclei, small cell groups reminiscent of the facial motor nuclei. Asymmetric and hypoplastic brainstem, dysplastic, centrally situated inferior olivary nucleus and dysplastic asymmetrical pyramidal formations with absent decussating of pyramidal tracts, dysplastic medial lemnisci..

IV: Unremarkable cranial nerve nuclei

/ Neurath29
Wallis30

Pitner et al.31

/ -,(7)x
-,(3,5,6,7)x
-,(5,6,7,9,12)x / -
-
Dysplastic muscles, absent inferior olivary nucleus, hypoplastic cerebellar hemisphere

-: Not affected. *: All cranial nerve nuclei at the pontine and medullary level. x: Cranial nerve nuclei innervating the clinically affected muscles.

References

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