An Infant With Seizures and Blisters on the Skin

Catherine Achim, MD; Kimberly G. Yen, MD


December 17, 2012

Clinical Presentation

A 3-week-old girl was referred to the pediatric ophthalmology service by the neonatal intensive care unit. She was born full-term and had a normal birth weight.

Shortly after birth, she was admitted for investigation of seizures and was observed to have abnormal skin findings. The mother also had a history of similar skin findings at birth. We were asked to look for findings in the eye that might help with the diagnosis.

On ocular examination, the patient was blinking to light with both eyes. Horizontal versions were full. Pupils were equal and reactive to light, with no relative afferent pupillary defect. External examination showed diffuse blisters on the surface of the skin of her arms and legs (Figure 1).

Figure 1. Diffuse blisters on the patient's legs.

Examination of the anterior segment was unremarkable. On dilated fundus examination, both discs appeared normal. However, the peripheral retinas demonstrated 360° of abnormal arborization of the peripheral vessels, with small scattered intraretinal hemorrhages and possible nonvascularization in the far periphery (Figure 2). The macula in the left eye also showed a white intraretinal lesion, with a small hemorrhage above the fovea (Figure 3).

Figure 2. Retinal photograph of the far periphery, showing scattered intraretinal hemorrhages and abnormal arborization of the peripheral vessels.

Figure 3. Retinal photograph showing a white intraretinal lesion on the macula and a hemorrhage above the fovea.