Combination of olfactory hypoplasia and superior oblique palsy: a previously unreported congenital cranial dysinnervation disorder
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Congenital cranial dysinnervation disorders (CCDD) can present with various combinations of hypoplasia/aplasia of the cranial nerves (CN) such as CN III and VI , CN IV and VI , CN VI and VII , or CN VI and VIII . CN IV aplasia or hypoplasia is the major cause of congenital superior oblique palsy . Olfactory bulb hypoplasia is one of the clinical features of Kallmann syndrome or CHARGE syndrome , as well as with ocular motor apraxia [6, 7]. Herein, we found a patient with congenital superior oblique palsy and coexistent olfactory bulb hypoplasia which has not been reported previously.
A 17-month-old boy presented with torticollis since infancy. He was born full term with no significant perinatal history. He showed normal developmental milestones and did not show any abnormal systemic findings such as Klippel-Feil anomaly, radial aplasia, thenar hypoplasia, or absent thumbs.
On ophthalmologic examination, he fixed and followed well with each...
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Conflict of interest
The authors declare that they have no conflict of interest.
- 7.Yang HK, Kim JH, Hwang JM (2019) Combination of olfactory aplasia and congenital ocular motor apraxia: a previously unreported association. Neurol Sci 40:2419–2421Google Scholar