|
 
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| CASE REPORT |
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| Year : 2023 | Volume
: 3
| Issue : 2 | Page : 468-471 |
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A new association of olfactory hypoplasia and limited elevation
Hee Kyung Yang1, Jae Hyoung Kim2, Jeong-Min Hwang1
1 Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea
2 Department of Radiology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea
| Date of Submission | 10-Jun-2022 |
| Date of Acceptance | 20-Mar-2023 |
| Date of Web Publication | 28-Apr-2023 |
Correspondence Address:
Jeong-Min Hwang
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 166, Gumiro, Bundang-gu, Seongnam, Gyeonggi-do 463-707
Korea
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ijo.IJO_1380_22
Congenital cranial dysinnervation disorders (CCDDs) as a group of neurodevelopmental diseases could present with various combinations of the affected cranial nerves. Olfactory aplasia or hypoplasia has been reported with other cranial nerves affected. Herein, we present an unreported association of olfactory aplasia and limited elevation in two patients who did not have other ocular motor nerve aplasia or hypoplasia on magnetic resonance (MR) imaging. We present two patients—an 11-month-old boy and a 9-year-old boy who showed limited elevation and were found to have olfactory aplasia. In conclusion, aplasia of the olfactory bulb may be associated with strabismus with some degree of ophthalmoplegia, thus should be carefully examined with various clinical manifestations.
Keywords: Congenital cranial dysinnervation disorders, limited elevation, olfactory aplasia, olfactory hypoplasia, ophthalmoplegia
How to cite this article:
Yang HK, Kim JH, Hwang JM. A new association of olfactory hypoplasia and limited elevation. Indian J Ophthalmol Case Rep 2023;3:468-71 |
Hee Kyung Yang, Jae Hyoung Kim; The two authors should be considered equivalent first authors
Congenital cranial dysinnervation disorders (CCDDs) as a group of neurodevelopmental diseases could present with various combinations of the affected cranial nerves.[1],[2],[3],[4],[5],[6],[7] Olfactory aplasia or hypoplasia has been reported with other cranial nerves affected.[5],[6],[7] Herein, we present an unreported association of olfactory aplasia and limited elevation in two patients who did not have other ocular motor nerve aplasia or hypoplasia on magnetic resonance (MR) imaging.
| Case Reports | |  |
Case 1. A 9-year-old boy presented with an intermittent elevation of the right eye for 1 year. He was born full-term with no significant perinatal history. He showed normal developmental milestones and did not show any abnormal systemic findings. His parents denied any history of previous head trauma or a family history of developmental delay and strabismus.
On examination, his uncorrected visual acuities were 20/20 in both eyes (OU). He showed an intermittent exotropia of 14 prism diopters (PD) and 6 PD of left hypotropia at distance and near in the primary position. Ductions and versions showed mild limitation of elevation in the left eye [Figure 1]a. The pupils were round and isocoric OU. Dilated fundus examination was unremarkable OU.
High-resolution axial T2-weighted images were obtained with 0.25 mm thickness for the trochlear nerve, and 1.4 mm thickness for the oculomotor, trigeminal, abducens, facial, and acoustic nerves in the basal cistern using a 3-tesla system. Coronal T2-weighted images were obtained with 1.0 mm thickness for the orbit, covering the olfactory bulb and tract. The right olfactory bulb and tract were well identified, but the left was absent [Figure 1]b. All extraocular muscles [Figure 1]b as well as the oculomotor, trochlear, trigeminal, abducens, facial, and acoustic nerves [Figure 1]c, [Figure 1]d, [Figure 1]e, [Figure 1]f, [Figure 1]g were normal in size. | Figure 1: (a) Ocular versions demonstrating limited elevation of the left eye. (b) On coronal T2-weighted image, the right olfactory bulb (arrow) is well identified in the olfactory fossa, but the left is absent. All extraocular muscles are normal in size. (c-g) High-resolution axial T2-weighted images show normal-sized oculomotor (arrows in c), trochlear (arrows in d and e), trigeminal (arrows in f), abducens (double arrows in g), facial (black arrows in g), and acoustic nerves (white arrows in g).
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Case 2. An 11-month-old boy presented with esotropia and intermittent elevation of the left eye since 3 months of age. He was born at 37 weeks gestation weighing 3.2 kg. He showed delayed developmental milestones, hearing defects, and left facial palsy. His parents denied any history of previous head trauma or a family history of developmental delay and strabismus.
On examination, he fixed and followed a 5-inch toy OU. He showed an esotropia of 18 PD at near in the primary position. Ductions and versions showed limitation of elevation in the right eye [Figure 2]a. The pupils were round and isocoric OU. Dilated fundus examination was unremarkable OU. | Figure 2: (a) Ocular versions demonstrating limited elevation of the right eye. (b) On coronal T2-weighted image, the right and left olfactory bulbs are absent in the olfactory fossa (arrows). (c) On coronal T2-weighted image, all extraocular muscles are normal in size. (d-g) High-resolution axial T2-weighted images show normal-sized oculomotor (arrows in d), trochlear (arrows in e), trigeminal (arrows in f), abducens (double arrows in g), facial (black arrows in g), and acoustic nerves (white arrows in g).
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High-resolution axial T2-weighted images for the cranial nerves and coronal T2-weighted images for the orbit, olfactory bulb, and tract were obtained as in Case 1. Both olfactory bulbs and tracts were absent [Figure 2]b. All extraocular muscles [Figure 2]c as well as the oculomotor, trochlear, trigeminal, abducens, facial, and acoustic nerves [Figure 2]d, [Figure 2]e, [Figure 2]f, [Figure 2]g were normal in size.
| Discussion | | |
In this report, two cases showed unilateral limited elevation with exotropia (case 1) or esotropia (case 2). Both showed only olfactory hypoplasia, with normal oculomotor, trochlear, and abducens nerves on high-resolution MR images. Unlike the previous reports of olfactory hypoplasia associated with ocular motor apraxia, partial oculomotor nerve palsy, superior oblique palsy, and Wolf–Hirschhorn syndrome,[5],[6],[7] these two patients only showed unilateral limited elevation without any other affected cranial nerves. Therefore, these findings of the two cases suggest that a patient with olfactory aplasia could present with strabismus and some degree of ophthalmoplegia even with normal appearance of the oculomotor, trochlear, and abducens nerves on MR images. In addition, CCDDs may not be isolated and present with any combination of functional abnormalities of the cranial nerves without definite morphological abnormalities on MR images.
| Conclusion | | |
Aplasia of the olfactory bulb may be associated with strabismus and some degree of ophthalmoplegia, thus should be carefully examined with various clinical manifestations.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Kim JH, Hwang JM. Imaging of cranial nerves III, IV, VI in congenital cranial dysinnervation disorders. Korean J Ophthalmol 2017;31:183-93.  |
| 2. | Kim JH, Hwang JM. Hypoplastic oculomotor nerve and absent abducens nerve in congenital fibrosis syndrome and synergistic divergence with magnetic resonance imaging. Ophthalmology 2005;112:728-32. |
| 3. | Kim JH, Kim SK, Hwang JM. Combined bilateral absence of trochlear and abducens nerve. Neurol Sci 2014;35:1457-9. |
| 4. | Yang HK, Kim JH, Hwang JM. Absent cochlear and abducens nerves in a patient with Duane retraction syndrome. Neurol Sci 2019;40:643-4. |
| 5. | Yang HK, Kim JH, Hwang JM. Combination of olfactory aplasia and congenital ocular motor apraxia: A previously unreported association. Neurol Sci 2019;40:2419-21. |
| 6. | Yang HK, Kim JH, Hwang JM.Combination of olfactory hypoplasia and superior oblique palsy: A previously unreported congenital cranial dysinnervation disorder. Neurol Sci 2020;41:975-6. |
| 7. | Yang HK, Kim JH, Hwang JM. Olfactory hypoplasia and oculomotor nerve hypoplasia in a patient with Wolf-Hirschhorn syndrome. Neurol Sci 2020;41:2993-5. |
[Figure 1], [Figure 2]
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