The seizure of less than three months of age consulting for the first time in Primary Care for possible alteration in vision not detected so far; parents report that "fear the left eye toward inside and with that godfather".
This is a full term newborn, single daughter, with controlled pregnancy without incidents and normal vaginal delivery, who presents from birth extensive segmental lesions at the thoracic level, extending half of the ipsilateral hemangioma of the upper back to the right limb.
The patient was assessed by the Pathophysiology Department using Doppler ultrasound, which confirmed extensive capillary leak. Magnetic resonance imaging (MRI) of the limb was requested and followed up in an outpatient clinic.
In the examination, apart from the hemangiomas described and lymphedema in the right hand, he notes that he does not fix the gaze nor continues with it, he presents an intermittent convergent strabismus in the left eye, which is very striking.
Right eye examination is normal, as well as bilateral red reflex.
It is not associated with malformations or other neurological disorders and the rest of the exploration by organs and apparatus is anodyne.
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It is derived for imaging study and follow-up by Ophthalmology and Neurology.
Cranial MRI shows severe hypoplasia of the optic pathway (affective dysplasia in the left side), cerebellar dysplasia and cortical development (dysplasia and heterotopias).
The rest of the studies performed to date are normal hemangiomas of the thorax (heart tracing, cardiological study, array-CGH and angio-MR), so it is possible to suspect possible segmental ocular anomalies of PHACE(S)
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Currently she is three years old, and despite the visual deficit her psychomotor development is normal.
It maintains a multidisciplinary follow-up due to Neuroattention, Early Ophthalmology, the National Organization of Ciegos (ONCE), Coloedema and Pulsed Therapy Unit in Spain; and
