EPOS

European Paediatric Ophthalmological Society

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JUST ANOTHER CASE OF CEREBRAL PALSY, OR BEYOND?

Cardoso, L. 1, Torrent, T.1, Silva, R.B. 1, Garcia, P. 2, 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 2 year-old white female, first child of a non-consanguineous marriage, was sent for ophthalmological evaluation for diagnostic clarification. She had been clinically categorized as a tetraspatic variant of cerebral palsy, with moderate to severe developmental delay associated with several dysmorphic features including plagiocephaly, slight micrognathia and bilateral asymmetric ptosis.
On eye examination, she presented with an exotropia>100PD (both distance and near), anomalous head posture and horizontal nystagmus. A diagnosis of bilateral IIIrd palsy associated with a left IVth was reached. Karyotype analysis was normal. Full metabolic work-up was also unremarkable. Head MRI revealed multiple sequealae, some probably acquired in utero, others later in development, of vascular origin and affecting the basal nuclei, pons and cerebellum. We also diagnosed changes in the mitochondrial metabolism and a thrombotic genetic predisposition that might have significantly influenced this outcome.