Male, age 1, with abnormal white matter of the brain (leukodystrophy), global developmental delay, abnormal brain electrical activity, and eye abnormalities (visual impairment, optic atrophy, esotropia)
Jun 09, 2021
The participant was born at 37 weeks by spontaneous vaginal delivery. He failed his newborn hearing screen twice but passed a third screen at 5 weeks of age. Following his birth, the participant had a weak cry, was not visually tracking, and did not wake up well. He was admitted to the hospital at 3.5 months for episodes of head shaking, leg stiffening, eyes roving, and fever. Brain imaging showed extensive abnormal white matter (leukodystrophy). There was also elevated brain lactate identified by magnetic resonance spectroscopy (MRS). On neurologic exam, the participant did not track, had poor suck, weak cry, low muscle tone (hypotonia), and brisk deep tendon reflexes.
Since this hospitalization, the participant has been doing better with improved tracking and head control. He has not shown signs of regression. He was recently found to have damage to the optic nerve (optic atrophy) associated with visual impairment.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
