title: Complete bilateral ophthalmoplegia with unilateral facial palsy in a child with anti-GQ1b syndrome.
abstract: The classical phenotype of Miller Fisher syndrome is characterized by ophthalmoplegia, ataxia and areflexia. However, less extensive forms have been described. The authors report a 14-y-old boy with positive anti-GQ1b antibodies with unusual clinical findings. He presented with headache, double vision and vomiting for 7 d. Examination revealed complete opththalmoplegia, right lower-motor-neuron facial palsy, no limb weakness or cerebellar signs and normal fundus. CSF examination and MRI brain were normal. Electrophysiological studies showed normal limb nerve conduction studies, low CMAP amplitude of right facial nerve, abnormal blink reflex and negative repetitive-nerve-stimulation test. Anti-GQ1b antibodies were positive. The child was managed conservatively with gradual complete recovery. The patients with positive anti-GQ1b antibodies who do not demonstrate the full complement of the Miller Fisher syndrome triad have been reported previously. However, unilateral facial palsy has not been reported previously. This report further expands the phenotypic spectrum of anti-GQ1b syndrome.
authors.affiliation: Department of Ophthalmology, Hamdard Institute of Medical Sciences & Research, Hamdard University, New Delhi, India.
authors.forename: Hina
authors.initials: H
authors.lastname: Kauser
authors.forename: Puneet
authors.initials: P
authors.lastname: Jain
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
mesh_terms: D000293:Adolescent; D000906:Antibodies / Q000032:analysis; D003937:Diagnosis, Differential; D005158:Facial Paralysis / Q000175:diagnosis / Q000209:etiology; D005732:Gangliosides / Q000276:immunology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D019846:Miller Fisher Syndrome / Q000097:blood / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology; D009414:Nerve Growth Factors / Q000276:immunology; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000209:etiology; D009887:Ophthalmoscopy / Q000379:methods; D016896:Treatment Outcome
chemical_list: D000906:Antibodies; D005732:Gangliosides; D009414:Nerve Growth Factors; C039129:GQ1b ganglioside