EPOS

European Paediatric Ophthalmological Society

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MOEBIUS-LIKE SYNDROME OR ANOTHER DIAGNOSTIC CHALLENGE?

Torrent, T.1, Garcia, P. 2, Diogo, L. 2, Cardoso, L. 1, Murta, J.N. 1, Silva, E. 1

1. Dept. of Pediatric Ophthalmology, University of Coimbra, Portugal. 2. Dept of Metabolic Diseases, Neurology and Development, Children's Hospital of Coimbra, Portugal.

A 5 month-old white female, second child of a nonconsanguineous marriage, was sent for ophthalmological evaluation for diagnostic clarification. The clinical picture included axial hypotony with hypertonic lower limbs, moderate to severe developmental delay associated with several dysmorphic features: plagiocephaly, micrognathia, bilateral asymmetric ptosis, asymmetric lid fissures, malformed left ear and a mask-like facies.
On eye examination, she presented a bilateral III palsy associated to a left IVth. Anterior segments were unremarkable and fundus examination only revealed mild retinal vessel tortuosity. Cardiac ultrasound revealed the presence of a ventricle septal defect with a LV to RV gradient. Karyotype and brain MRI were both normal. Full metabolic work-up was also unremarkable.