EPOS

European Paediatric Ophthalmological Society

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A case of Moebius-Poland sequence: where did it start?

Xavier Ana ¹, Brito Cristina ¹, Jorge ¹, Nepomuceno Jos ¹, Mesquita Jos ^1
1Hospital de Dona Estef

Moebius sequence is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The etiology of these abnormalities remain controversial, however, recent evidence suggests these defects result from a vascular insult early in pregnancy. Congenital total horizontal gaze deficits are rare. The aim is to report a case of Moebius-Poland sequence and interpret the constellation of ophthalmologic and clinical findings presented and radiological abnormalities detected with magnetic resonance imaging and propose a possible etiological mechanism. A boy, twelve years old, exhibited a profound horizontal gaze anomaly with an A-pattern, absence of abduction and horizontal versions, limited adduction, total failure of horizontal saccades, abnormal lacrimation and bilateral epicanthus. Cranial nerve impairments included paralysis of the abducens, facial and hypoglossal nerves. In addition there was microdactyly, syndactyly and hypotrophic right hand, aplasia of the right pectoralis major, mammary gland and nipple. The patient underwent ophthalmologic, neurological, genetic-clinic, otorhinolaryngologic examinations and magnetic resonance imaging was performed. We propose our patient's brain stem abnormalities may be the result of an unknown vascular insult that affected a zone of vascular vulnerability of the fetal brain stem.