Möbius syndrome: clinico-radiologic correlation
Tóm tắt
Möbius syndrome is characterized by abducens and facial nerve palsy. However, the presence/absence of corresponding cranial nerves on MRI was not fully evaluated. The purpose of this study was to investigate the mechanism of Möbius syndrome by associating the presence of abducens and facial nerves on MR imagings with clinical features. We retrospectively reviewed the medical records and MR imagings of nine patients with Möbius syndrome between January 2004 and October 2015. The presence/absence of abducens and facial nerves on MR imaging, as well as corresponding neuro-ophthalmologic clinical features, was investigated. Facial palsy was bilateral in six and unilateral in three patients. Abduction was limited bilaterally in five and unilaterally in four patients. The degrees of facial palsy and abduction limitation were variable, and asymmetric even in the bilateral cases. MR imaging documented bilateral absence of the abducens and facial nerves in six, absence of unilateral facial nerve and bilateral abducens nerves in one, and absence of facial and abducens nerves unilaterally on the same side in another. Both abducens and facial nerves were visualized bilaterally only in the one remaining patient. The absence of abducens and facial nerves on MR imaging was mostly correlated with the findings of facial palsy and abduction limitation in patients with Möbius syndrome. MR imaging aids in diagnosis of Möbius syndrome by documenting the absence or presence of abducens and facial nerves.
Tài liệu tham khảo
Gutowski NJ, Chilton JK (2015) The congenital cranial dysinnervation disorders. Arch Dis Child 100(7):678–681
Pedraza S, Gamez J, Rovira A et al (2000) MRI findings in Mobius syndrome: correlation with clinical features. Neurology 55(7):1058–1560
Saint-Martin C, Clapuyt P, Duprez T et al (1998) Mobius sequence and severe pons hypoplasia: a case report. Pediatr Radiol 28(12):932
Kuhn MJ, Clark HB, Morales A et al (1990) Group III Mobius syndrome: CT and MR findings. AJNR 11(5):903–904
Verzijl HT, Valk J, de Vries R et al (2005) Radiologic evidence for absence of the facial nerve in Mobius syndrome. Neurology 64(5):849–855
Huang HT, Hwang CW, Lai PH et al (2009) Möbius syndrome as a syndrome of Rhombencephalic Maldevelopment: a case report. Pediatr Neonatol 50(1):36–38
Jeon SH, Choi KD, Oh SY et al (2006) A case of Möbius syndrome with Duane's retraction syndrome. J Korean Neurol Assoc 24(2):175–177
Pandey PK, Shroff D, Kapoor S et al (2007) Bilateral incyclotorsion, absent facial nerve, and anotia: fellow travelers in Mobius sequence or oculoauriculovertebral spectrum? J AAPOS 11(3):310–312
Park C, Kim JH, Hwang JM (2012) Coexistence of Mobius syndrome and Duane's retraction syndrome. Graefes Arch Clin Exp Ophthalmol 250(11):1707–1709
Kim JH, Hwang JM (2012) Abducens nerve is present in patients with type 2 Duane's retraction syndrome. Ophthalmology 119:403–406
Yang HK, Kim JH, Hwang JM (2012) Congenital superior oblique palsy and trochlear nerve absence: a clinical and radiological study. Ophthalmology 119(1):170–178
Kim JH, Hwang JM (2005) Presence of the abducens nerve according to the type of Duane's retraction syndrome. Ophthalmology 112(1):109–113
Choi BS, Kim JH, Jung C, Hwang JM (2010) High-resolution 3D MR imaging of the trochlear nerve. AJNR 31(6):1076–1079
Kim JH, Hwang JM (2009) Magnetic resonance imaging in three patients with congenital oculomotor nerve palsy. Br J Ophthalmol 93(9):1266–1267
Kim JH, Hwang JM (2010) Absence of the trochlear nerve in patients with superior oblique hypoplasia. Ophthalmology 117(11):2208–2213
Kim JH, Hwang JM (2005) Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging. Ophthalmology 112(4):728–732
Kim JH, Hwang JM (2006) Adduction on attempted abduction: the opposite of synergistic divergence. Arch Ophthalmol 124(6):918–920