Olfactory hypoplasia and oculomotor nerve hypoplasia in a patient with Wolf-Hirschhorn syndrome
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LETTER TO THE EDITOR
Olfactory hypoplasia and oculomotor nerve hypoplasia in a patient with Wolf-Hirschhorn syndrome Hee Kyung Yang 1 & Jae Hyoung Kim 2 & Jeong-Min Hwang 1 Received: 6 November 2019 / Accepted: 7 May 2020 # Fondazione Società Italiana di Neurologia 2020
Dear Editor, Congenital cranial dysinnervation disorders (CCDDs) are a group of neurodevelopmental diseases caused by aberrant innervation of the ocular and facial musculature due to abnormal development of the cranial nerves or nuclei [1]. CCDDs can involve isolated single nerves or may affect multiple nerves [1–13]. However, combined olfactory hypoplasia and oculomotor nerve hypoplasia has not been reported. Wolf-Hirschhorn syndrome is characterized by severe growth retardation, cardiac septal defect, microcephaly, cleft lip/palate, and abnormalities of the eye, caused by partial deletion of the short arm of chromosome 4 [14]. Herein, we report a patient with Wolf-Hirschhorn syndrome who showed concurrent oculomotor nerve hypoplasia and olfactory hypoplasia.
Case report A 13-month-old girl presented with left exotropia since infancy. She was born at 40 weeks gestation weighing 2.6 kg. She showed global developmental delay and frequent vomiting. Chromosomal study revealed 2.7 Mb deletion of chromosome 4p 16.3, compatible with Wolf-Hirschhorn syndrome. Her Hee Kyung Yang and Jae Hyoung Kim contributed equally to this work. * Jeong-Min Hwang [email protected] Hee Kyung Yang [email protected] Jae Hyoung Kim [email protected] 1
Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, 166, Gumiro, Bundang-gu, Seongnam 463-707, Gyeonggi-do, Korea
2
Department of Radiology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea
parents denied any history of previous head trauma or family history of developmental delay and strabismus. On examination, she fixed and followed a 5-inch toy with each eye. She showed a left intermittent exotropia of 50 prism diopters at near using the Krimsky method. Ductions and versions showed mild limitation of adduction in both eyes (Fig. 1a). The pupils were round and isocoric in both eyes. Dilated fundus examination was unremarkable in both eyes. Cycloplegic refraction showed + 2.00 D in the right eye and + 1.75 D in the left eye. 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 MRI system. Coronal T2-weighted images were obtained with 1.0-mm thickness for the orbit, and olfactory bulb and tract. Oculomotor nerves were bilaterally smaller (1.2 mm in their diameter) than the acoustic nerves (1.4 mm) (Fig. 1b, c), which suggests mild hypoplasia according to a previous study [2]. The right olfactory bulb and tract were well identified, but the left was absent (Fig. 1d, e). All extraocular muscles (Fig. 1d, e) as well as the trochlear, trigeminal, a
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