![]() Upon arrival at the emergency room, he was intubated and mental status was stupor (Glasgow coma scale E2V2M5, temperature 37.7℃, blood pressure 110/65 mm Hg, respiration rate 25/min). Few hours before the transfer, he abruptly started vomiting and developed difficulty in breathing. One day before the transfer, he had gastrointestinal symptoms and weakness for dehydration. Here we report our experience of bilateral tonic pupils in a child with GBS, who diagnosed by pharmacological pupil test with diluted 0.125% pilocarpine and nerve conduction velocity (NCV) study.Ī 6-year-old boy was transferred to our hospital due to altered mental status after respiratory resuscitation. ![]() Prognosis depends on the proper management and anticipation of ocular and mental symptoms and disabilities.ACN Annals of Child Neurology Ann Child Neurol 2635-909X 2635-9103 Korean Child Neurology Society 10.26815/acn.2019.00150 acn-2019-00150 Letter to the editor Bilateral Tonic Pupils and Guillain-Barre Syndrome in a 6-Year-Old Boy Prognosis of Absence Epilepsy in Child Hong Shin-Hye MD 1 Byun Sung Hwan MD 2 Hong Eun Hee MD 3 Lee Young-Ho MD 1 Moon Jin-Hwa MD 1 1Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea 2Department of Pediatrics, Bundang Jaesaeng Hospital, Seongnam, Korea 3Department of Ophthalmology, Hanyang University Guri Hospital, Guri, Korea Corresponding author: Jin-Hwa Moon, MD, Division of Pediatric Neurology, Department of Pediatrics, Hanyang University Guri Hospital, Hanyang University College of Medicine, 153 Gyeongchun-ro, Guri 11923, Korea Tel: +82-3, Fax: +82-3 E-mail: 12 2019 7 11 2019 27 4 146 148 20 08 2019 25 09 2019 10 10 2019 Copyright © 2019 Korean Child Neurology Society 2019 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.īilateral tonic pupils can be a rare manifestation of Guillain-Barré syndrome (GBS). There are no reports on the natural history of the disease. Management includes regular ophthalmologic evaluation with prescription of optical aids, physical, speech and occupational therapy for muscular re-education. Although some reported families are compatible with autosomal dominant inheritance, Gillespie syndrome is more likely to be an autosomal recessive condition. ![]() Sporadic and familial cases have been observed. Differential diagnosisĭifferential diagnosis includes Marinesco-Sjögren syndrome (see this term) in which congenital cataract is present, as well as cerebellar ataxia, intellectual disability, and aniridia (see this term). In many cases, neuroimaging studies (CT scan, MRI) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy of the cerebral hemispheres, brainstem and frontal cortex. Diagnostic methodsĪ presumptive diagnosis can be made in the first months of life: on slit lamp examination, the pupil border of the iris typically shows a scalloped, 'festooned' edge with iris strands extending onto the anterior lens surface at regular intervals. One case has also been reported to be due to a de novo translocation of chromosome X and 11 t(X 11) (p22.32 p12), but with no involvement of the PAX6 gene. Some atypical cases have been linked to mutations in the PAX6 gene (11p13), encoding a transcriptional regulator expressed in ocular, cerebral, olfactory, and pancreatic tissues. The cases referred to as atypical Gillespie syndrome correspond to those showing a more complex phenotype, associating additional ocular findings and a mild dysmorphic face. Mild facial dysmorphic features may be observed such as high forehead, hypertelorism, epicanthic folds, depressed nasal bridge with anteverted nostrils, and thin upper lip. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with incoordination, intention tremor, and scanning speech. Cataract and corneal opacities are never observed. It can be accompanied with additional ocular findings such as foveal, patchy iris and/or optic nerve hypoplasia, retinal hypopigmentation, and/or pigmentary macular changes leading to reduced visual acuity. ![]() Clinical descriptionĪniridia is visible at birth as fixed dilated pupils and is associated with photobia. To date, less than 30 patients have been reported in the literature.
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