May 14, 2020
At birth, the participant was noticed to have folded ears (overfolding of the superior helices) and eye abnormalities (retinal coloboma, microphthalmia, strabismus). At 3 months, she began to experience seizures (infantile spasms). Although a ketogenic diet helped the participant become seizure-free for 5 years, the seizures (generalized tonic-clonic, generalized myoclonic, focal seizures) returned. She is currently having a couple per week on average. Brain abnormalities have been noted on MRI and a neurology exam at 1 year showed stiff and tight limbs (spasticity). Some of her other symptoms include feeding difficulties, curvature of the spine (scoliosis, kyphoscoliosis), and abnormal position of the intestines (intestinal malrotation).
If this participant sounds like you or someone you know, please contact us!
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